Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Herc2'

47017

Institutional Source

Beutler Lab

Gene Symbol

Herc2

Ensembl Gene

ENSMUSG00000030451

Gene Name

HECT and RLD domain containing E3 ubiquitin protein ligase 2

Synonyms

D7H15F32S1, D7H15F37S1, D15F32S1h, rjs, jdf2

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55699944-55881548 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 55834117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 3107 (C3107*)

Ref Sequence

ENSEMBL: ENSMUSP00000145997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076226] [ENSMUST00000164095] [ENSMUST00000205303]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000076226
AA Change: C3107*

SMART Domains

Protein: ENSMUSP00000075579
Gene: ENSMUSG00000030451
AA Change: C3107*

Domain	Start	End	E-Value	Type
low complexity region	73	87	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	304	317	N/A	INTRINSIC
Pfam:RCC1	514	567	7.6e-16	PFAM
Pfam:RCC1_2	554	583	6e-9	PFAM
Pfam:RCC1	570	615	7.1e-17	PFAM
Pfam:RCC1_2	606	637	6.9e-8	PFAM
Pfam:RCC1	624	673	7.2e-15	PFAM
Pfam:RCC1	676	725	3.3e-18	PFAM
Pfam:RCC1_2	712	740	1.6e-9	PFAM
low complexity region	854	866	N/A	INTRINSIC
low complexity region	902	913	N/A	INTRINSIC
coiled coil region	950	977	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
Cyt-b5	1211	1284	1.08e-1	SMART
low complexity region	1310	1316	N/A	INTRINSIC
low complexity region	1440	1446	N/A	INTRINSIC
low complexity region	1545	1563	N/A	INTRINSIC
coiled coil region	1651	1674	N/A	INTRINSIC
Pfam:MIB_HERC2	1871	1933	5.8e-29	PFAM
low complexity region	1939	1952	N/A	INTRINSIC
low complexity region	2211	2222	N/A	INTRINSIC
low complexity region	2381	2388	N/A	INTRINSIC
low complexity region	2402	2416	N/A	INTRINSIC
low complexity region	2521	2540	N/A	INTRINSIC
Pfam:Cul7	2555	2633	2.6e-43	PFAM
ZnF_ZZ	2703	2747	5.39e-11	SMART
APC10	2780	2933	5.1e-41	SMART
TECPR	2978	3019	7.59e0	SMART
Pfam:RCC1_2	3048	3079	9.2e-8	PFAM
Pfam:RCC1	3066	3115	3.7e-17	PFAM
Pfam:RCC1_2	3102	3131	3.9e-11	PFAM
Pfam:RCC1	3118	3162	1.9e-15	PFAM
Pfam:RCC1	3172	3221	9.6e-15	PFAM
Pfam:RCC1_2	3208	3236	2.2e-7	PFAM
TECPR	3241	3284	1.32e2	SMART
low complexity region	3357	3365	N/A	INTRINSIC
low complexity region	3430	3447	N/A	INTRINSIC
low complexity region	3480	3495	N/A	INTRINSIC
low complexity region	3755	3771	N/A	INTRINSIC
TECPR	3972	4012	2.41e1	SMART
Pfam:RCC1_2	4041	4072	5.1e-8	PFAM
Pfam:RCC1	4059	4108	1.5e-16	PFAM
Pfam:RCC1	4111	4155	7.9e-16	PFAM
TECPR	4184	4225	8.42e1	SMART
Pfam:RCC1_2	4253	4282	4.3e-10	PFAM
Pfam:RCC1	4269	4318	1.2e-17	PFAM
Blast:HECTc	4340	4425	6e-18	BLAST
HECTc	4455	4801	1.37e-62	SMART
low complexity region	4808	4828	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000164095
AA Change: C3107*

SMART Domains

Protein: ENSMUSP00000131573
Gene: ENSMUSG00000030451
AA Change: C3107*

Domain	Start	End	E-Value	Type
low complexity region	73	87	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	304	317	N/A	INTRINSIC
Pfam:RCC1	514	567	2.9e-15	PFAM
Pfam:RCC1_2	554	583	1.6e-8	PFAM
Pfam:RCC1	570	615	2.3e-16	PFAM
Pfam:RCC1	624	673	1.2e-14	PFAM
Pfam:RCC1_2	660	689	2.1e-7	PFAM
Pfam:RCC1	676	725	9.8e-18	PFAM
Pfam:RCC1_2	712	740	1.1e-9	PFAM
low complexity region	854	866	N/A	INTRINSIC
low complexity region	902	913	N/A	INTRINSIC
coiled coil region	950	977	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
Cyt-b5	1211	1284	1.08e-1	SMART
low complexity region	1310	1316	N/A	INTRINSIC
low complexity region	1440	1446	N/A	INTRINSIC
low complexity region	1545	1563	N/A	INTRINSIC
coiled coil region	1651	1674	N/A	INTRINSIC
Pfam:MIB_HERC2	1871	1931	9.3e-25	PFAM
low complexity region	1939	1952	N/A	INTRINSIC
low complexity region	2211	2222	N/A	INTRINSIC
low complexity region	2381	2388	N/A	INTRINSIC
low complexity region	2402	2416	N/A	INTRINSIC
low complexity region	2521	2540	N/A	INTRINSIC
Pfam:Cul7	2555	2632	1.4e-39	PFAM
ZnF_ZZ	2703	2747	5.39e-11	SMART
APC10	2780	2933	5.1e-41	SMART
TECPR	2978	3019	7.59e0	SMART
Pfam:RCC1_2	3048	3079	1.6e-7	PFAM
Pfam:RCC1	3066	3115	7.1e-16	PFAM
Pfam:RCC1_2	3102	3131	7.1e-11	PFAM
Pfam:RCC1	3118	3163	1.2e-14	PFAM
Pfam:RCC1	3172	3221	4.7e-15	PFAM
TECPR	3241	3284	1.32e2	SMART
low complexity region	3357	3365	N/A	INTRINSIC
low complexity region	3430	3447	N/A	INTRINSIC
low complexity region	3480	3495	N/A	INTRINSIC
low complexity region	3755	3771	N/A	INTRINSIC
TECPR	3972	4012	2.41e1	SMART
Pfam:RCC1_2	4041	4072	1.2e-7	PFAM
Pfam:RCC1	4059	4108	9.6e-15	PFAM
Pfam:RCC1	4111	4156	5.6e-15	PFAM
TECPR	4184	4225	8.42e1	SMART
Pfam:RCC1_2	4253	4282	7.3e-10	PFAM
Pfam:RCC1	4269	4318	1.6e-16	PFAM
Blast:HECTc	4340	4425	6e-18	BLAST
HECTc	4455	4801	1.37e-62	SMART
low complexity region	4808	4828	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000205303
AA Change: C3107*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		probably null	Het

Other mutations in Herc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Herc2	APN	7	55,774,047 (GRCm39)	missense	probably damaging	1.00
IGL00529:Herc2	APN	7	55,807,501 (GRCm39)	missense	probably benign
IGL00548:Herc2	APN	7	55,856,313 (GRCm39)	missense	probably benign	0.20
IGL00970:Herc2	APN	7	55,830,812 (GRCm39)	splice site	probably benign
IGL01141:Herc2	APN	7	55,862,589 (GRCm39)	missense	possibly damaging	0.47
IGL01147:Herc2	APN	7	55,806,697 (GRCm39)	missense	probably benign	0.43
IGL01150:Herc2	APN	7	55,830,881 (GRCm39)	missense	probably damaging	1.00
IGL01519:Herc2	APN	7	55,753,698 (GRCm39)	missense	probably damaging	1.00
IGL01576:Herc2	APN	7	55,876,409 (GRCm39)	critical splice donor site	probably null
IGL01626:Herc2	APN	7	55,734,890 (GRCm39)	missense	probably benign	0.02
IGL01658:Herc2	APN	7	55,809,200 (GRCm39)	missense	probably damaging	1.00
IGL01707:Herc2	APN	7	55,814,935 (GRCm39)	missense	probably damaging	1.00
IGL01727:Herc2	APN	7	55,787,554 (GRCm39)	missense	probably damaging	1.00
IGL01935:Herc2	APN	7	55,803,541 (GRCm39)	missense	probably benign
IGL01969:Herc2	APN	7	55,835,579 (GRCm39)	splice site	probably benign
IGL02074:Herc2	APN	7	55,737,192 (GRCm39)	splice site	probably benign
IGL02261:Herc2	APN	7	55,856,492 (GRCm39)	missense	probably damaging	0.99
IGL02339:Herc2	APN	7	55,771,470 (GRCm39)	missense	probably benign	0.01
IGL02353:Herc2	APN	7	55,764,560 (GRCm39)	missense	probably damaging	1.00
IGL02360:Herc2	APN	7	55,764,560 (GRCm39)	missense	probably damaging	1.00
IGL02409:Herc2	APN	7	55,870,217 (GRCm39)	splice site	probably null
IGL02528:Herc2	APN	7	55,758,641 (GRCm39)	splice site	probably benign
IGL02571:Herc2	APN	7	55,803,134 (GRCm39)	missense	probably damaging	1.00
IGL02578:Herc2	APN	7	55,756,283 (GRCm39)	splice site	probably null
IGL02661:Herc2	APN	7	55,762,821 (GRCm39)	missense	probably damaging	1.00
IGL02664:Herc2	APN	7	55,785,426 (GRCm39)	nonsense	probably null
IGL02675:Herc2	APN	7	55,813,849 (GRCm39)	missense	probably damaging	0.99
IGL02689:Herc2	APN	7	55,815,031 (GRCm39)	splice site	probably benign
IGL02710:Herc2	APN	7	55,787,562 (GRCm39)	missense	possibly damaging	0.95
IGL02750:Herc2	APN	7	55,854,127 (GRCm39)	splice site	probably benign
IGL02754:Herc2	APN	7	55,747,246 (GRCm39)	missense	probably damaging	1.00
IGL03029:Herc2	APN	7	55,818,715 (GRCm39)	missense	probably damaging	1.00
IGL03039:Herc2	APN	7	55,818,769 (GRCm39)	splice site	probably benign
IGL03082:Herc2	APN	7	55,835,671 (GRCm39)	missense	probably benign	0.19
IGL03090:Herc2	APN	7	55,854,221 (GRCm39)	missense	probably damaging	0.96
IGL03154:Herc2	APN	7	55,851,907 (GRCm39)	missense	probably damaging	1.00
IGL03165:Herc2	APN	7	55,841,660 (GRCm39)	missense	probably damaging	1.00
IGL03201:Herc2	APN	7	55,869,516 (GRCm39)	missense	probably damaging	1.00
IGL03234:Herc2	APN	7	55,753,610 (GRCm39)	missense	probably damaging	1.00
IGL03293:Herc2	APN	7	55,804,878 (GRCm39)	missense	probably benign	0.43
IGL03331:Herc2	APN	7	55,785,015 (GRCm39)	splice site	probably benign
IGL03340:Herc2	APN	7	55,740,668 (GRCm39)	missense	possibly damaging	0.51
IGL03409:Herc2	APN	7	55,878,317 (GRCm39)	missense	probably damaging	1.00
alarmed	UTSW	7	55,879,410 (GRCm39)	missense	possibly damaging	0.92
hyper	UTSW	7	55,809,165 (GRCm39)	missense	probably damaging	1.00
R0798_herc2_487	UTSW	7	55,785,431 (GRCm39)	critical splice donor site	probably null
R1370_Herc2_948	UTSW	7	55,818,621 (GRCm39)	missense	probably benign	0.01
R2030_Herc2_144	UTSW	7	55,834,121 (GRCm39)	missense	probably damaging	0.99
uptight	UTSW	7	55,762,958 (GRCm39)	missense	probably damaging	1.00
I0000:Herc2	UTSW	7	55,786,477 (GRCm39)	splice site	probably benign
PIT1430001:Herc2	UTSW	7	55,876,702 (GRCm39)	missense	probably damaging	1.00
R0009:Herc2	UTSW	7	55,857,560 (GRCm39)	missense	probably benign	0.03
R0009:Herc2	UTSW	7	55,857,560 (GRCm39)	missense	probably benign	0.03
R0058:Herc2	UTSW	7	55,820,231 (GRCm39)	missense	possibly damaging	0.93
R0114:Herc2	UTSW	7	55,803,522 (GRCm39)	splice site	probably benign
R0117:Herc2	UTSW	7	55,863,359 (GRCm39)	splice site	probably benign
R0141:Herc2	UTSW	7	55,771,309 (GRCm39)	missense	probably benign	0.17
R0266:Herc2	UTSW	7	55,856,326 (GRCm39)	missense	probably damaging	1.00
R0401:Herc2	UTSW	7	55,807,480 (GRCm39)	missense	probably damaging	0.99
R0403:Herc2	UTSW	7	55,809,165 (GRCm39)	missense	probably damaging	1.00
R0437:Herc2	UTSW	7	55,869,563 (GRCm39)	nonsense	probably null
R0491:Herc2	UTSW	7	55,772,114 (GRCm39)	missense	possibly damaging	0.54
R0580:Herc2	UTSW	7	55,788,539 (GRCm39)	missense	probably damaging	1.00
R0650:Herc2	UTSW	7	55,762,958 (GRCm39)	missense	probably damaging	1.00
R0744:Herc2	UTSW	7	55,855,784 (GRCm39)	splice site	probably benign
R0798:Herc2	UTSW	7	55,785,431 (GRCm39)	critical splice donor site	probably null
R0842:Herc2	UTSW	7	55,771,453 (GRCm39)	missense	probably benign
R0849:Herc2	UTSW	7	55,856,326 (GRCm39)	missense	probably damaging	1.00
R0850:Herc2	UTSW	7	55,854,231 (GRCm39)	missense	probably benign	0.09
R0926:Herc2	UTSW	7	55,782,296 (GRCm39)	missense	possibly damaging	0.67
R1146:Herc2	UTSW	7	55,796,444 (GRCm39)	missense	probably benign
R1146:Herc2	UTSW	7	55,796,444 (GRCm39)	missense	probably benign
R1292:Herc2	UTSW	7	55,846,951 (GRCm39)	missense	probably benign	0.05
R1370:Herc2	UTSW	7	55,818,621 (GRCm39)	missense	probably benign	0.01
R1443:Herc2	UTSW	7	55,854,481 (GRCm39)	missense	possibly damaging	0.69
R1445:Herc2	UTSW	7	55,818,744 (GRCm39)	missense	probably damaging	1.00
R1541:Herc2	UTSW	7	55,785,405 (GRCm39)	missense	probably damaging	1.00
R1550:Herc2	UTSW	7	55,785,406 (GRCm39)	missense	probably damaging	1.00
R1551:Herc2	UTSW	7	55,796,417 (GRCm39)	missense	probably benign	0.01
R1633:Herc2	UTSW	7	55,879,117 (GRCm39)	missense	probably null	1.00
R1635:Herc2	UTSW	7	55,786,415 (GRCm39)	missense	probably benign	0.00
R1659:Herc2	UTSW	7	55,784,853 (GRCm39)	missense	probably benign	0.00
R1682:Herc2	UTSW	7	55,738,148 (GRCm39)	missense	possibly damaging	0.87
R1697:Herc2	UTSW	7	55,803,653 (GRCm39)	missense	probably benign	0.43
R1748:Herc2	UTSW	7	55,798,571 (GRCm39)	critical splice donor site	probably null
R1802:Herc2	UTSW	7	55,834,080 (GRCm39)	missense	probably damaging	1.00
R1835:Herc2	UTSW	7	55,856,513 (GRCm39)	nonsense	probably null
R1836:Herc2	UTSW	7	55,804,853 (GRCm39)	nonsense	probably null
R1872:Herc2	UTSW	7	55,807,257 (GRCm39)	missense	probably benign	0.18
R1889:Herc2	UTSW	7	55,839,561 (GRCm39)	missense	possibly damaging	0.60
R1906:Herc2	UTSW	7	55,764,612 (GRCm39)	missense	probably benign	0.01
R2004:Herc2	UTSW	7	55,787,607 (GRCm39)	missense	probably damaging	1.00
R2030:Herc2	UTSW	7	55,834,121 (GRCm39)	missense	probably damaging	0.99
R2037:Herc2	UTSW	7	55,855,709 (GRCm39)	missense	probably damaging	1.00
R2059:Herc2	UTSW	7	55,813,645 (GRCm39)	missense	probably damaging	1.00
R2068:Herc2	UTSW	7	55,782,245 (GRCm39)	missense	probably damaging	1.00
R2072:Herc2	UTSW	7	55,876,712 (GRCm39)	missense	probably damaging	1.00
R2085:Herc2	UTSW	7	55,862,713 (GRCm39)	missense	possibly damaging	0.94
R2115:Herc2	UTSW	7	55,835,576 (GRCm39)	splice site	probably benign
R2160:Herc2	UTSW	7	55,862,670 (GRCm39)	missense	probably benign	0.00
R2173:Herc2	UTSW	7	55,835,699 (GRCm39)	missense	probably benign	0.27
R2221:Herc2	UTSW	7	55,818,766 (GRCm39)	critical splice donor site	probably null
R2280:Herc2	UTSW	7	55,787,019 (GRCm39)	missense	possibly damaging	0.79
R3078:Herc2	UTSW	7	55,786,991 (GRCm39)	missense	probably benign
R3104:Herc2	UTSW	7	55,785,103 (GRCm39)	missense	probably benign	0.23
R3177:Herc2	UTSW	7	55,803,176 (GRCm39)	missense	probably benign	0.00
R3277:Herc2	UTSW	7	55,803,176 (GRCm39)	missense	probably benign	0.00
R3766:Herc2	UTSW	7	55,813,572 (GRCm39)	missense	probably damaging	1.00
R3770:Herc2	UTSW	7	55,814,755 (GRCm39)	missense	probably benign
R3807:Herc2	UTSW	7	55,857,557 (GRCm39)	missense	probably damaging	1.00
R3912:Herc2	UTSW	7	55,748,185 (GRCm39)	missense	probably damaging	0.98
R4004:Herc2	UTSW	7	55,756,213 (GRCm39)	missense	possibly damaging	0.53
R4039:Herc2	UTSW	7	55,806,159 (GRCm39)	missense	probably damaging	0.98
R4190:Herc2	UTSW	7	55,772,196 (GRCm39)	missense	probably benign	0.03
R4225:Herc2	UTSW	7	55,814,735 (GRCm39)	missense	probably damaging	1.00
R4334:Herc2	UTSW	7	55,876,402 (GRCm39)	missense	probably damaging	1.00
R4405:Herc2	UTSW	7	55,820,225 (GRCm39)	missense	probably damaging	1.00
R4448:Herc2	UTSW	7	55,877,640 (GRCm39)	missense	probably damaging	1.00
R4450:Herc2	UTSW	7	55,877,640 (GRCm39)	missense	probably damaging	1.00
R4565:Herc2	UTSW	7	55,803,586 (GRCm39)	missense	possibly damaging	0.71
R4667:Herc2	UTSW	7	55,781,001 (GRCm39)	missense	probably damaging	1.00
R4747:Herc2	UTSW	7	55,756,141 (GRCm39)	missense	possibly damaging	0.80
R4762:Herc2	UTSW	7	55,820,388 (GRCm39)	missense	probably benign	0.19
R4829:Herc2	UTSW	7	55,756,240 (GRCm39)	missense	probably benign	0.39
R4832:Herc2	UTSW	7	55,748,165 (GRCm39)	nonsense	probably null
R4895:Herc2	UTSW	7	55,872,734 (GRCm39)	missense	probably damaging	1.00
R4904:Herc2	UTSW	7	55,807,234 (GRCm39)	missense	probably damaging	0.99
R4908:Herc2	UTSW	7	55,827,660 (GRCm39)	missense	probably benign	0.01
R4911:Herc2	UTSW	7	55,877,640 (GRCm39)	missense	probably damaging	1.00
R4921:Herc2	UTSW	7	55,879,438 (GRCm39)	missense	probably benign	0.04
R4939:Herc2	UTSW	7	55,856,484 (GRCm39)	missense	probably damaging	1.00
R5155:Herc2	UTSW	7	55,877,574 (GRCm39)	missense	possibly damaging	0.85
R5184:Herc2	UTSW	7	55,772,099 (GRCm39)	missense	probably damaging	1.00
R5269:Herc2	UTSW	7	55,818,618 (GRCm39)	nonsense	probably null
R5306:Herc2	UTSW	7	55,834,709 (GRCm39)	missense	probably damaging	1.00
R5314:Herc2	UTSW	7	55,869,534 (GRCm39)	missense	probably damaging	0.99
R5369:Herc2	UTSW	7	55,832,448 (GRCm39)	missense	probably damaging	1.00
R5418:Herc2	UTSW	7	55,787,313 (GRCm39)	missense	probably damaging	1.00
R5420:Herc2	UTSW	7	55,853,578 (GRCm39)	missense	probably damaging	0.96
R5463:Herc2	UTSW	7	55,844,010 (GRCm39)	missense	probably damaging	1.00
R5510:Herc2	UTSW	7	55,856,519 (GRCm39)	missense	probably damaging	1.00
R5634:Herc2	UTSW	7	55,856,531 (GRCm39)	missense	probably damaging	1.00
R5638:Herc2	UTSW	7	55,854,164 (GRCm39)	missense	probably benign	0.01
R5690:Herc2	UTSW	7	55,807,453 (GRCm39)	missense	probably benign
R5762:Herc2	UTSW	7	55,846,938 (GRCm39)	missense	possibly damaging	0.68
R5807:Herc2	UTSW	7	55,880,667 (GRCm39)	missense	probably damaging	0.99
R5878:Herc2	UTSW	7	55,773,996 (GRCm39)	missense	probably benign
R6036:Herc2	UTSW	7	55,717,801 (GRCm39)	missense	probably benign	0.01
R6036:Herc2	UTSW	7	55,717,801 (GRCm39)	missense	probably benign	0.01
R6083:Herc2	UTSW	7	55,878,253 (GRCm39)	missense	probably benign	0.00
R6192:Herc2	UTSW	7	55,857,510 (GRCm39)	missense	probably damaging	1.00
R6193:Herc2	UTSW	7	55,806,649 (GRCm39)	missense	probably damaging	0.98
R6261:Herc2	UTSW	7	55,846,820 (GRCm39)	nonsense	probably null
R6267:Herc2	UTSW	7	55,802,914 (GRCm39)	nonsense	probably null
R6267:Herc2	UTSW	7	55,854,466 (GRCm39)	missense	possibly damaging	0.51
R6298:Herc2	UTSW	7	55,841,013 (GRCm39)	missense	probably benign
R6299:Herc2	UTSW	7	55,784,803 (GRCm39)	missense	possibly damaging	0.47
R6326:Herc2	UTSW	7	55,872,682 (GRCm39)	missense	probably damaging	0.98
R6347:Herc2	UTSW	7	55,844,151 (GRCm39)	critical splice donor site	probably null
R6394:Herc2	UTSW	7	55,865,729 (GRCm39)	missense	probably damaging	1.00
R6500:Herc2	UTSW	7	55,796,393 (GRCm39)	nonsense	probably null
R6526:Herc2	UTSW	7	55,807,078 (GRCm39)	missense	probably damaging	0.99
R6592:Herc2	UTSW	7	55,857,438 (GRCm39)	critical splice acceptor site	probably null
R6619:Herc2	UTSW	7	55,717,840 (GRCm39)	nonsense	probably null
R6719:Herc2	UTSW	7	55,862,574 (GRCm39)	missense	probably damaging	1.00
R6750:Herc2	UTSW	7	55,747,195 (GRCm39)	missense	probably damaging	1.00
R6807:Herc2	UTSW	7	55,814,670 (GRCm39)	missense	probably damaging	1.00
R6811:Herc2	UTSW	7	55,763,181 (GRCm39)	nonsense	probably null
R6837:Herc2	UTSW	7	55,839,589 (GRCm39)	missense	possibly damaging	0.89
R6838:Herc2	UTSW	7	55,758,526 (GRCm39)	missense	probably damaging	1.00
R6902:Herc2	UTSW	7	55,785,234 (GRCm39)	missense	probably benign	0.37
R6983:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R6985:Herc2	UTSW	7	55,782,228 (GRCm39)	missense	probably damaging	1.00
R6985:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R6986:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R6987:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R7113:Herc2	UTSW	7	55,853,597 (GRCm39)	missense	probably damaging	0.99
R7173:Herc2	UTSW	7	55,853,575 (GRCm39)	missense	probably damaging	1.00
R7202:Herc2	UTSW	7	55,781,034 (GRCm39)	missense	probably damaging	0.99
R7205:Herc2	UTSW	7	55,832,388 (GRCm39)	missense	probably damaging	1.00
R7236:Herc2	UTSW	7	55,734,828 (GRCm39)	missense	probably benign	0.29
R7297:Herc2	UTSW	7	55,786,406 (GRCm39)	missense	probably benign	0.00
R7358:Herc2	UTSW	7	55,832,423 (GRCm39)	missense	possibly damaging	0.48
R7438:Herc2	UTSW	7	55,753,466 (GRCm39)	splice site	probably null
R7537:Herc2	UTSW	7	55,869,527 (GRCm39)	nonsense	probably null
R7578:Herc2	UTSW	7	55,784,548 (GRCm39)	missense	probably benign	0.07
R7614:Herc2	UTSW	7	55,803,023 (GRCm39)	nonsense	probably null
R7638:Herc2	UTSW	7	55,807,186 (GRCm39)	missense	probably benign	0.26
R7638:Herc2	UTSW	7	55,870,273 (GRCm39)	missense	probably damaging	1.00
R7646:Herc2	UTSW	7	55,784,361 (GRCm39)	missense	probably benign
R7663:Herc2	UTSW	7	55,786,433 (GRCm39)	missense	probably benign
R7665:Herc2	UTSW	7	55,802,903 (GRCm39)	missense	probably damaging	1.00
R7691:Herc2	UTSW	7	55,841,593 (GRCm39)	missense	probably benign
R7733:Herc2	UTSW	7	55,838,412 (GRCm39)	missense	probably damaging	0.99
R7767:Herc2	UTSW	7	55,878,275 (GRCm39)	missense	probably benign	0.39
R7802:Herc2	UTSW	7	55,813,838 (GRCm39)	missense	probably damaging	1.00
R7847:Herc2	UTSW	7	55,807,308 (GRCm39)	critical splice donor site	probably null
R7956:Herc2	UTSW	7	55,763,148 (GRCm39)	missense	probably damaging	0.97
R7985:Herc2	UTSW	7	55,814,992 (GRCm39)	missense	probably benign
R8003:Herc2	UTSW	7	55,818,652 (GRCm39)	missense	possibly damaging	0.94
R8045:Herc2	UTSW	7	55,834,648 (GRCm39)	missense	probably damaging	1.00
R8085:Herc2	UTSW	7	55,879,427 (GRCm39)	missense	probably benign	0.01
R8134:Herc2	UTSW	7	55,734,884 (GRCm39)	missense	probably benign	0.10
R8259:Herc2	UTSW	7	55,855,638 (GRCm39)	missense	probably damaging	0.99
R8286:Herc2	UTSW	7	55,879,410 (GRCm39)	missense	possibly damaging	0.92
R8304:Herc2	UTSW	7	55,809,186 (GRCm39)	missense	probably damaging	1.00
R8321:Herc2	UTSW	7	55,879,096 (GRCm39)	missense	possibly damaging	0.84
R8332:Herc2	UTSW	7	55,796,343 (GRCm39)	missense	probably damaging	1.00
R8432:Herc2	UTSW	7	55,804,860 (GRCm39)	missense	probably benign	0.14
R8516:Herc2	UTSW	7	55,856,318 (GRCm39)	missense	probably benign	0.05
R8676:Herc2	UTSW	7	55,838,361 (GRCm39)	missense	probably damaging	1.00
R8738:Herc2	UTSW	7	55,798,402 (GRCm39)	missense	possibly damaging	0.78
R8742:Herc2	UTSW	7	55,744,143 (GRCm39)	missense	probably benign	0.12
R8796:Herc2	UTSW	7	55,785,123 (GRCm39)	missense	probably benign	0.01
R8825:Herc2	UTSW	7	55,700,626 (GRCm39)	start codon destroyed	probably null	0.01
R8826:Herc2	UTSW	7	55,756,144 (GRCm39)	missense	probably benign	0.12
R8842:Herc2	UTSW	7	55,738,059 (GRCm39)	missense	probably damaging	0.99
R9103:Herc2	UTSW	7	55,784,803 (GRCm39)	missense	possibly damaging	0.47
R9124:Herc2	UTSW	7	55,834,056 (GRCm39)	missense	probably damaging	1.00
R9134:Herc2	UTSW	7	55,832,177 (GRCm39)	missense	probably damaging	0.99
R9168:Herc2	UTSW	7	55,802,208 (GRCm39)	missense	probably damaging	0.99
R9173:Herc2	UTSW	7	55,856,350 (GRCm39)	missense	probably damaging	0.97
R9238:Herc2	UTSW	7	55,813,508 (GRCm39)	missense	probably damaging	0.98
R9249:Herc2	UTSW	7	55,762,890 (GRCm39)	missense	probably damaging	1.00
R9344:Herc2	UTSW	7	55,772,112 (GRCm39)	missense	probably benign	0.07
R9432:Herc2	UTSW	7	55,780,932 (GRCm39)	missense	probably damaging	1.00
R9472:Herc2	UTSW	7	55,813,843 (GRCm39)	missense	probably damaging	1.00
R9513:Herc2	UTSW	7	55,762,848 (GRCm39)	missense	probably damaging	1.00
R9579:Herc2	UTSW	7	55,758,500 (GRCm39)	missense	probably damaging	0.99
R9596:Herc2	UTSW	7	55,834,595 (GRCm39)	missense
R9664:Herc2	UTSW	7	55,820,338 (GRCm39)	missense	possibly damaging	0.90
R9760:Herc2	UTSW	7	55,813,659 (GRCm39)	critical splice donor site	probably null
R9781:Herc2	UTSW	7	55,750,096 (GRCm39)	missense	possibly damaging	0.53
RF024:Herc2	UTSW	7	55,876,273 (GRCm39)	missense	probably damaging	1.00
X0011:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
X0023:Herc2	UTSW	7	55,740,666 (GRCm39)	missense	possibly damaging	0.73
X0057:Herc2	UTSW	7	55,879,438 (GRCm39)	missense	probably benign	0.04
X0064:Herc2	UTSW	7	55,841,006 (GRCm39)	missense	probably benign
X0064:Herc2	UTSW	7	55,840,959 (GRCm39)	missense	probably benign	0.01
Z1088:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
Z1088:Herc2	UTSW	7	55,737,089 (GRCm39)	missense	probably benign	0.00
Z1088:Herc2	UTSW	7	55,876,337 (GRCm39)	missense	probably damaging	1.00
Z1088:Herc2	UTSW	7	55,865,180 (GRCm39)	missense	probably damaging	1.00
Z1088:Herc2	UTSW	7	55,865,129 (GRCm39)	missense	possibly damaging	0.86
Z1176:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
Z1176:Herc2	UTSW	7	55,747,281 (GRCm39)	missense	possibly damaging	0.48
Z1176:Herc2	UTSW	7	55,782,246 (GRCm39)	missense	probably damaging	1.00
Z1177:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
Z1177:Herc2	UTSW	7	55,771,337 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TGATGGGAAACTTGGACACTTCAGC -3'
(R):5'- ACGCAACCTGGATTACTCGGTGAC -3'

Sequencing Primer
(F):5'- CTTGGACACTTCAGCAGAATG -3'
(R):5'- TCGGTGACCAAGAAGGACTTTTAC -3'

Posted On

2013-06-12