Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Herc2'

42469

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

038689-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R0491 (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 55772114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1098 (C1098S)

Ref Sequence

ENSEMBL: ENSMUSP00000145997 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076226
AA Change: C1098S

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075579
Gene: ENSMUSG00000030451
AA Change: C1098S

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

possibly damaging
Transcript: ENSMUST00000164095
AA Change: C1098S

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131573
Gene: ENSMUSG00000030451
AA Change: C1098S

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

possibly damaging
Transcript: ENSMUST00000205303
AA Change: C1098S

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1703

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	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
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
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'- GCGCTTTCAACGCCTGCTCA -3'
(R):5'- GGATACACCATAGCTTTTACCAGTCTCCT -3'

Sequencing Primer
(F):5'- actcacagaggtcagaagagg -3'
(R):5'- AGCTTTTACCAGTCTCCTAAAATAAG -3'

Posted On

2013-05-23