Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Herc2'

192329

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

039730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55699944-55881548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55803653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 2229 (F2229L)

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 benign
Transcript: ENSMUST00000076226
AA Change: F2229L

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075579
Gene: ENSMUSG00000030451
AA Change: F2229L

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 benign
Transcript: ENSMUST00000164095
AA Change: F2229L

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131573
Gene: ENSMUSG00000030451
AA Change: F2229L

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 benign
Transcript: ENSMUST00000205303
AA Change: F2229L

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206101

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,928 (GRCm39)	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Aldh2	A	G	5: 121,716,404 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Iqsec1	A	T	6: 90,786,752 (GRCm39)	Y7*	probably null	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Klk1b1	T	A	7: 43,619,750 (GRCm39)	M103K	probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or1j17	C	T	2: 36,578,259 (GRCm39)	L82F	probably damaging	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het
Zfp82	T	C	7: 29,756,779 (GRCm39)	D37G	probably benign	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
R0499:Herc2	UTSW	7	55,834,117 (GRCm39)	nonsense	probably null
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
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'- GCTCTGTCACACAAAGCTATGCCG -3'
(R):5'- TGTCACAAGCCAGTTTCACCCC -3'

Sequencing Primer
(F):5'- TTCAAGCCTGGGACAGTG -3'
(R):5'- AGCCAGTTTCACCCCTAATACTATG -3'

Posted On

2014-05-14