Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Herc1'

193753

Institutional Source

Beutler Lab

Gene Symbol

Herc1

Ensembl Gene

ENSMUSG00000038664

Gene Name

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

Synonyms

tbl, D130015N03Rik, 2810449H11Rik

MMRRC Submission

039785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66350450-66508775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66469010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 3371 (C3371G)

Ref Sequence

ENSEMBL: ENSMUSP00000044801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042824]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042824
AA Change: C3371G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044801
Gene: ENSMUSG00000038664
AA Change: C3371G

Domain	Start	End	E-Value	Type
low complexity region	79	90	N/A	INTRINSIC
low complexity region	136	147	N/A	INTRINSIC
Pfam:RCC1	476	526	5.4e-15	PFAM
Pfam:RCC1_2	513	542	1.3e-9	PFAM
Pfam:RCC1	529	576	5.5e-16	PFAM
Pfam:RCC1	579	629	1.5e-10	PFAM
Pfam:RCC1	632	680	3.6e-9	PFAM
Pfam:RCC1_2	667	696	2.2e-11	PFAM
Pfam:RCC1	683	733	1.2e-14	PFAM
low complexity region	787	807	N/A	INTRINSIC
low complexity region	852	864	N/A	INTRINSIC
low complexity region	1014	1025	N/A	INTRINSIC
low complexity region	1080	1100	N/A	INTRINSIC
low complexity region	1348	1378	N/A	INTRINSIC
low complexity region	1659	1676	N/A	INTRINSIC
low complexity region	1865	1874	N/A	INTRINSIC
low complexity region	2002	2030	N/A	INTRINSIC
SPRY	2067	2188	1.8e-30	SMART
coiled coil region	2251	2280	N/A	INTRINSIC
low complexity region	2410	2423	N/A	INTRINSIC
low complexity region	2613	2629	N/A	INTRINSIC
low complexity region	2633	2648	N/A	INTRINSIC
low complexity region	2650	2667	N/A	INTRINSIC
low complexity region	2736	2749	N/A	INTRINSIC
low complexity region	2882	2896	N/A	INTRINSIC
low complexity region	2924	2935	N/A	INTRINSIC
low complexity region	2971	2987	N/A	INTRINSIC
low complexity region	3045	3051	N/A	INTRINSIC
low complexity region	3168	3186	N/A	INTRINSIC
low complexity region	3191	3213	N/A	INTRINSIC
low complexity region	3364	3379	N/A	INTRINSIC
WD40	3415	3454	1.68e-6	SMART
WD40	3570	3608	3.68e1	SMART
WD40	3613	3652	4.3e-1	SMART
WD40	3657	3702	3.17e-2	SMART
WD40	3734	3773	8.29e-6	SMART
low complexity region	3950	3964	N/A	INTRINSIC
Pfam:RCC1_2	4079	4111	7.3e-9	PFAM
Pfam:RCC1	4098	4147	3.4e-16	PFAM
Pfam:RCC1_2	4134	4163	1.8e-7	PFAM
Pfam:RCC1	4150	4199	7.2e-16	PFAM
Pfam:RCC1	4204	4252	6.1e-12	PFAM
Pfam:RCC1	4255	4304	2.4e-7	PFAM
Pfam:RCC1_2	4291	4320	5.8e-12	PFAM
Pfam:RCC1	4307	4356	8.9e-16	PFAM
Blast:HECTc	4389	4423	2e-11	BLAST
HECTc	4497	4846	8.2e-148	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124969

Predicted Effect

probably benign
Transcript: ENSMUST00000135159

SMART Domains

Protein: ENSMUSP00000119991
Gene: ENSMUSG00000038664

Domain	Start	End	E-Value	Type
low complexity region	118	134	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	241	254	N/A	INTRINSIC
low complexity region	387	401	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	469	485	N/A	INTRINSIC
low complexity region	543	549	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716 (GRCm38)	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372 (GRCm38)	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352 (GRCm38)	S306G	probably damaging	Het
Adamts8	T	G	9: 30,954,614 (GRCm38)	I486S	probably benign	Het
Adgrg5	T	C	8: 94,942,052 (GRCm38)	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135 (GRCm38)	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241 (GRCm38)		probably null	Het
Arhgap31	A	G	16: 38,601,612 (GRCm38)	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833 (GRCm38)	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,302,354 (GRCm38)	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561 (GRCm38)	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499 (GRCm38)	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688 (GRCm38)	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857 (GRCm38)	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937 (GRCm38)	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981 (GRCm38)	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815 (GRCm38)	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986 (GRCm38)	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773 (GRCm38)		probably benign	Het
Cpb1	G	T	3: 20,266,241 (GRCm38)	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100 (GRCm38)	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872 (GRCm38)	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120 (GRCm38)	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685 (GRCm38)	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425 (GRCm38)	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432 (GRCm38)		probably null	Het
Dlx6	C	T	6: 6,863,665 (GRCm38)	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335 (GRCm38)	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342 (GRCm38)	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429 (GRCm38)	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,192,940 (GRCm38)	S13T	probably benign	Het
Ercc6	T	C	14: 32,576,999 (GRCm38)	V1448A	probably benign	Het
Esp24	A	G	17: 39,040,002 (GRCm38)	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461 (GRCm38)	M338K	probably benign	Het
Fbxl9	A	T	8: 105,313,192 (GRCm38)	V517E	probably damaging	Het
Fgfbp1	A	C	5: 43,979,923 (GRCm38)	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616 (GRCm38)	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578 (GRCm38)	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267 (GRCm38)	C61G	probably damaging	Het
Hmcn1	C	T	1: 150,586,468 (GRCm38)	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635 (GRCm38)	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860 (GRCm38)	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734 (GRCm38)	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797 (GRCm38)	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482 (GRCm38)		probably benign	Het
Kng1	A	T	16: 23,079,119 (GRCm38)	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489 (GRCm38)	Q1746L	possibly damaging	Het
Lrrc63	A	T	14: 75,086,344 (GRCm38)		probably null	Het
Mad2l1	T	A	6: 66,539,813 (GRCm38)	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680 (GRCm38)	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363 (GRCm38)	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881 (GRCm38)	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810 (GRCm38)	D244G	probably null	Het
Mstn	A	G	1: 53,066,558 (GRCm38)	Y353C	probably damaging	Het
Mx1	T	A	16: 97,454,158 (GRCm38)	N232Y	probably damaging	Het
Mycs	T	C	X: 5,468,103 (GRCm38)	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870 (GRCm38)	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412 (GRCm38)	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419 (GRCm38)	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979 (GRCm38)	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640 (GRCm38)		probably null	Het
Or1l4	A	G	2: 37,201,427 (GRCm38)	Y62C	probably damaging	Het
Or51g2	T	C	7: 102,973,056 (GRCm38)	N312S	probably benign	Het
Or5aq6	T	C	2: 87,093,227 (GRCm38)	T57A	probably damaging	Het
Or5w18	T	A	2: 87,802,762 (GRCm38)	F124L	probably benign	Het
Or9s14	G	A	1: 92,608,400 (GRCm38)	V188M	probably benign	Het
Pcdh17	A	T	14: 84,477,654 (GRCm38)	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225 (GRCm38)	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671 (GRCm38)	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691 (GRCm38)	C84*	probably null	Het
Pex1	A	T	5: 3,630,044 (GRCm38)	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317 (GRCm38)	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905 (GRCm38)	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,342,631 (GRCm38)	K489E	probably damaging	Het
Prob1	T	C	18: 35,653,252 (GRCm38)	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336 (GRCm38)	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791 (GRCm38)	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817 (GRCm38)		probably null	Het
Rnaset2b	G	A	17: 6,981,107 (GRCm38)		probably null	Het
S1pr1	A	G	3: 115,711,938 (GRCm38)	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195 (GRCm38)	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391 (GRCm38)	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948 (GRCm38)	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202 (GRCm38)	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268 (GRCm38)	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822 (GRCm38)	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621 (GRCm38)	M491T	probably benign	Het
Tars1	G	A	15: 11,394,243 (GRCm38)	Q103*	probably null	Het
Tmem132d	C	A	5: 127,789,855 (GRCm38)	E660D	probably benign	Het
Ttn	T	C	2: 76,812,972 (GRCm38)	E13201G	probably damaging	Het
Ttn	T	A	2: 76,752,261 (GRCm38)	M22763L	probably benign	Het
Ttn	T	C	2: 76,745,043 (GRCm38)	T16842A	probably damaging	Het
Ubp1	A	T	9: 113,955,969 (GRCm38)	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559 (GRCm38)	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197 (GRCm38)	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245 (GRCm38)	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820 (GRCm38)	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744 (GRCm38)	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247 (GRCm38)	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164 (GRCm38)	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105 (GRCm38)	W287R	probably benign	Het

Other mutations in Herc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Herc1	APN	9	66,483,966 (GRCm38)	missense	probably benign	0.02
IGL00159:Herc1	APN	9	66,437,682 (GRCm38)	missense	possibly damaging	0.94
IGL00486:Herc1	APN	9	66,476,120 (GRCm38)	missense	probably benign
IGL00717:Herc1	APN	9	66,485,002 (GRCm38)	missense	probably damaging	1.00
IGL00766:Herc1	APN	9	66,450,741 (GRCm38)	missense	probably damaging	1.00
IGL00776:Herc1	APN	9	66,421,038 (GRCm38)	missense	probably benign
IGL00987:Herc1	APN	9	66,408,052 (GRCm38)	missense	probably benign	0.07
IGL01090:Herc1	APN	9	66,469,175 (GRCm38)	nonsense	probably null
IGL01098:Herc1	APN	9	66,461,922 (GRCm38)	critical splice donor site	probably null
IGL01106:Herc1	APN	9	66,476,438 (GRCm38)	splice site	probably benign
IGL01120:Herc1	APN	9	66,428,880 (GRCm38)	missense	probably benign
IGL01359:Herc1	APN	9	66,439,268 (GRCm38)	missense	probably benign	0.01
IGL01360:Herc1	APN	9	66,483,699 (GRCm38)	missense	probably benign
IGL01364:Herc1	APN	9	66,399,361 (GRCm38)	missense	probably benign	0.00
IGL01470:Herc1	APN	9	66,497,636 (GRCm38)	missense	possibly damaging	0.94
IGL01670:Herc1	APN	9	66,487,060 (GRCm38)	missense	probably damaging	1.00
IGL01825:Herc1	APN	9	66,399,807 (GRCm38)	missense	probably benign	0.00
IGL01903:Herc1	APN	9	66,386,872 (GRCm38)	nonsense	probably null
IGL01988:Herc1	APN	9	66,488,075 (GRCm38)	splice site	probably benign
IGL02074:Herc1	APN	9	66,450,983 (GRCm38)	missense	probably benign
IGL02089:Herc1	APN	9	66,480,869 (GRCm38)	missense	probably damaging	1.00
IGL02177:Herc1	APN	9	66,434,511 (GRCm38)	missense	probably benign
IGL02300:Herc1	APN	9	66,476,363 (GRCm38)	missense	probably benign	0.01
IGL02304:Herc1	APN	9	66,476,414 (GRCm38)	missense	probably benign	0.06
IGL02369:Herc1	APN	9	66,492,011 (GRCm38)	nonsense	probably null
IGL02445:Herc1	APN	9	66,433,482 (GRCm38)	missense	possibly damaging	0.95
IGL02447:Herc1	APN	9	66,497,328 (GRCm38)	missense	possibly damaging	0.59
IGL02549:Herc1	APN	9	66,399,901 (GRCm38)	missense	probably damaging	0.98
IGL02571:Herc1	APN	9	66,434,605 (GRCm38)	splice site	probably benign
IGL02709:Herc1	APN	9	66,497,680 (GRCm38)	missense	probably damaging	0.97
IGL02717:Herc1	APN	9	66,371,921 (GRCm38)	nonsense	probably null
IGL02726:Herc1	APN	9	66,441,988 (GRCm38)	missense	probably benign	0.37
IGL02733:Herc1	APN	9	66,450,992 (GRCm38)	missense	probably benign
IGL02963:Herc1	APN	9	66,388,823 (GRCm38)	missense	probably damaging	0.99
IGL03101:Herc1	APN	9	66,487,997 (GRCm38)	missense	probably benign
IGL03193:Herc1	APN	9	66,402,680 (GRCm38)	missense	probably benign
IGL03203:Herc1	APN	9	66,388,900 (GRCm38)	critical splice donor site	probably null
IGL03216:Herc1	APN	9	66,478,946 (GRCm38)	missense	probably benign	0.06
IGL03282:Herc1	APN	9	66,451,459 (GRCm38)	missense	probably benign	0.05
IGL03295:Herc1	APN	9	66,396,703 (GRCm38)	missense	possibly damaging	0.56
cradle	UTSW	9	66,483,866 (GRCm38)	splice site	probably null
miracles	UTSW	9	66,462,837 (GRCm38)	nonsense	probably null
newton	UTSW	9	66,467,803 (GRCm38)	missense	probably damaging	1.00
R0907_Herc1_362	UTSW	9	66,433,428 (GRCm38)	missense	possibly damaging	0.94
R4427_Herc1_231	UTSW	9	66,496,005 (GRCm38)	missense	probably damaging	1.00
R5026_Herc1_363	UTSW	9	66,486,126 (GRCm38)	missense	probably benign	0.03
stables	UTSW	9	66,479,453 (GRCm38)	missense	probably benign	0.13
strangle	UTSW	9	66,501,188 (GRCm38)	frame shift	probably null
IGL03134:Herc1	UTSW	9	66,434,063 (GRCm38)	critical splice acceptor site	probably benign
PIT4243001:Herc1	UTSW	9	66,372,207 (GRCm38)	missense	probably benign	0.00
PIT4486001:Herc1	UTSW	9	66,372,389 (GRCm38)	missense	probably damaging	1.00
PIT4696001:Herc1	UTSW	9	66,479,009 (GRCm38)	missense	probably damaging	1.00
R0044:Herc1	UTSW	9	66,448,175 (GRCm38)	missense	probably benign	0.04
R0044:Herc1	UTSW	9	66,448,175 (GRCm38)	missense	probably benign	0.04
R0052:Herc1	UTSW	9	66,400,156 (GRCm38)	missense	probably damaging	0.99
R0114:Herc1	UTSW	9	66,461,846 (GRCm38)	missense	probably damaging	0.99
R0129:Herc1	UTSW	9	66,448,075 (GRCm38)	missense	probably damaging	1.00
R0131:Herc1	UTSW	9	66,480,910 (GRCm38)	missense	probably benign	0.00
R0131:Herc1	UTSW	9	66,480,910 (GRCm38)	missense	probably benign	0.00
R0132:Herc1	UTSW	9	66,480,910 (GRCm38)	missense	probably benign	0.00
R0158:Herc1	UTSW	9	66,495,921 (GRCm38)	nonsense	probably null
R0333:Herc1	UTSW	9	66,464,699 (GRCm38)	splice site	probably null
R0384:Herc1	UTSW	9	66,481,050 (GRCm38)	splice site	probably benign
R0419:Herc1	UTSW	9	66,446,074 (GRCm38)	splice site	probably benign
R0453:Herc1	UTSW	9	66,399,772 (GRCm38)	missense	probably benign	0.20
R0458:Herc1	UTSW	9	66,476,381 (GRCm38)	missense	probably benign	0.12
R0490:Herc1	UTSW	9	66,484,999 (GRCm38)	missense	probably damaging	1.00
R0506:Herc1	UTSW	9	66,448,159 (GRCm38)	missense	probably damaging	0.99
R0513:Herc1	UTSW	9	66,445,645 (GRCm38)	missense	possibly damaging	0.96
R0628:Herc1	UTSW	9	66,450,881 (GRCm38)	missense	probably benign	0.35
R0666:Herc1	UTSW	9	66,484,888 (GRCm38)	splice site	probably benign
R0674:Herc1	UTSW	9	66,501,192 (GRCm38)	missense	probably damaging	0.99
R0682:Herc1	UTSW	9	66,481,981 (GRCm38)	missense	possibly damaging	0.95
R0690:Herc1	UTSW	9	66,386,838 (GRCm38)	nonsense	probably null
R0701:Herc1	UTSW	9	66,487,950 (GRCm38)	missense	probably damaging	1.00
R0766:Herc1	UTSW	9	66,504,840 (GRCm38)	missense	probably damaging	1.00
R0850:Herc1	UTSW	9	66,466,670 (GRCm38)	missense	probably damaging	1.00
R0907:Herc1	UTSW	9	66,433,428 (GRCm38)	missense	possibly damaging	0.94
R0972:Herc1	UTSW	9	66,372,145 (GRCm38)	missense	probably damaging	1.00
R0976:Herc1	UTSW	9	66,439,878 (GRCm38)	missense	possibly damaging	0.74
R1027:Herc1	UTSW	9	66,455,968 (GRCm38)	missense	probably benign
R1200:Herc1	UTSW	9	66,486,124 (GRCm38)	missense	probably damaging	1.00
R1226:Herc1	UTSW	9	66,416,263 (GRCm38)	missense	probably benign	0.00
R1364:Herc1	UTSW	9	66,400,093 (GRCm38)	missense	probably damaging	1.00
R1395:Herc1	UTSW	9	66,439,181 (GRCm38)	missense	probably benign	0.13
R1432:Herc1	UTSW	9	66,465,469 (GRCm38)	missense	probably benign	0.13
R1440:Herc1	UTSW	9	66,467,803 (GRCm38)	missense	probably damaging	1.00
R1476:Herc1	UTSW	9	66,508,266 (GRCm38)	missense	probably damaging	1.00
R1590:Herc1	UTSW	9	66,491,953 (GRCm38)	splice site	probably benign
R1634:Herc1	UTSW	9	66,473,538 (GRCm38)	missense	possibly damaging	0.51
R1700:Herc1	UTSW	9	66,450,678 (GRCm38)	splice site	probably null
R1753:Herc1	UTSW	9	66,502,084 (GRCm38)	critical splice donor site	probably null
R1796:Herc1	UTSW	9	66,388,856 (GRCm38)	nonsense	probably null
R1830:Herc1	UTSW	9	66,497,599 (GRCm38)	missense	possibly damaging	0.95
R1855:Herc1	UTSW	9	66,391,426 (GRCm38)	missense	possibly damaging	0.95
R1866:Herc1	UTSW	9	66,450,791 (GRCm38)	missense	probably damaging	1.00
R1894:Herc1	UTSW	9	66,479,461 (GRCm38)	missense	probably damaging	1.00
R1918:Herc1	UTSW	9	66,476,126 (GRCm38)	splice site	probably null
R1999:Herc1	UTSW	9	66,486,078 (GRCm38)	missense	probably benign	0.07
R2034:Herc1	UTSW	9	66,441,972 (GRCm38)	missense	probably benign	0.01
R2138:Herc1	UTSW	9	66,470,307 (GRCm38)	missense	possibly damaging	0.94
R2186:Herc1	UTSW	9	66,439,901 (GRCm38)	missense	probably benign	0.45
R2192:Herc1	UTSW	9	66,465,406 (GRCm38)	missense	probably damaging	0.99
R2312:Herc1	UTSW	9	66,508,281 (GRCm38)	nonsense	probably null
R2338:Herc1	UTSW	9	66,428,969 (GRCm38)	missense	possibly damaging	0.69
R3035:Herc1	UTSW	9	66,483,935 (GRCm38)	missense	possibly damaging	0.89
R3732:Herc1	UTSW	9	66,445,640 (GRCm38)	missense	probably damaging	1.00
R3732:Herc1	UTSW	9	66,445,640 (GRCm38)	missense	probably damaging	1.00
R3733:Herc1	UTSW	9	66,445,640 (GRCm38)	missense	probably damaging	1.00
R3917:Herc1	UTSW	9	66,434,466 (GRCm38)	missense	possibly damaging	0.94
R3953:Herc1	UTSW	9	66,433,793 (GRCm38)	nonsense	probably null
R4073:Herc1	UTSW	9	66,418,492 (GRCm38)	missense	probably benign	0.12
R4075:Herc1	UTSW	9	66,418,492 (GRCm38)	missense	probably benign	0.12
R4241:Herc1	UTSW	9	66,448,348 (GRCm38)	frame shift	probably null
R4260:Herc1	UTSW	9	66,448,348 (GRCm38)	frame shift	probably null
R4261:Herc1	UTSW	9	66,448,348 (GRCm38)	frame shift	probably null
R4300:Herc1	UTSW	9	66,489,406 (GRCm38)	missense	probably damaging	1.00
R4398:Herc1	UTSW	9	66,479,453 (GRCm38)	missense	probably benign	0.13
R4426:Herc1	UTSW	9	66,496,005 (GRCm38)	missense	probably damaging	1.00
R4427:Herc1	UTSW	9	66,496,005 (GRCm38)	missense	probably damaging	1.00
R4590:Herc1	UTSW	9	66,437,664 (GRCm38)	missense	probably damaging	0.97
R4630:Herc1	UTSW	9	66,433,714 (GRCm38)	splice site	probably null
R4656:Herc1	UTSW	9	66,394,711 (GRCm38)	missense	probably damaging	0.97
R4658:Herc1	UTSW	9	66,479,491 (GRCm38)	missense	possibly damaging	0.50
R4663:Herc1	UTSW	9	66,433,378 (GRCm38)	missense	probably damaging	0.98
R4675:Herc1	UTSW	9	66,391,458 (GRCm38)	missense	probably damaging	1.00
R4678:Herc1	UTSW	9	66,416,269 (GRCm38)	missense	probably benign	0.00
R4754:Herc1	UTSW	9	66,501,206 (GRCm38)	missense	probably benign	0.00
R4766:Herc1	UTSW	9	66,441,929 (GRCm38)	missense	probably benign	0.00
R4792:Herc1	UTSW	9	66,495,984 (GRCm38)	missense	possibly damaging	0.67
R4828:Herc1	UTSW	9	66,497,343 (GRCm38)	splice site	probably null
R4832:Herc1	UTSW	9	66,495,971 (GRCm38)	missense	probably benign	0.11
R4879:Herc1	UTSW	9	66,462,837 (GRCm38)	nonsense	probably null
R4948:Herc1	UTSW	9	66,484,902 (GRCm38)	missense	probably benign
R5021:Herc1	UTSW	9	66,470,326 (GRCm38)	missense	possibly damaging	0.48
R5022:Herc1	UTSW	9	66,470,326 (GRCm38)	missense	possibly damaging	0.48
R5023:Herc1	UTSW	9	66,470,326 (GRCm38)	missense	possibly damaging	0.48
R5024:Herc1	UTSW	9	66,470,326 (GRCm38)	missense	possibly damaging	0.48
R5025:Herc1	UTSW	9	66,470,326 (GRCm38)	missense	possibly damaging	0.48
R5026:Herc1	UTSW	9	66,486,126 (GRCm38)	missense	probably benign	0.03
R5027:Herc1	UTSW	9	66,473,529 (GRCm38)	missense	probably benign	0.01
R5027:Herc1	UTSW	9	66,504,618 (GRCm38)	missense	probably damaging	0.98
R5038:Herc1	UTSW	9	66,476,460 (GRCm38)	intron	probably benign
R5041:Herc1	UTSW	9	66,429,045 (GRCm38)	missense	possibly damaging	0.86
R5053:Herc1	UTSW	9	66,470,326 (GRCm38)	missense	possibly damaging	0.48
R5137:Herc1	UTSW	9	66,448,223 (GRCm38)	missense	probably benign
R5197:Herc1	UTSW	9	66,448,504 (GRCm38)	missense	probably damaging	0.99
R5207:Herc1	UTSW	9	66,399,869 (GRCm38)	nonsense	probably null
R5247:Herc1	UTSW	9	66,434,551 (GRCm38)	missense	probably benign	0.01
R5267:Herc1	UTSW	9	66,461,809 (GRCm38)	missense	probably damaging	1.00
R5274:Herc1	UTSW	9	66,399,409 (GRCm38)	missense	probably benign
R5375:Herc1	UTSW	9	66,467,887 (GRCm38)	missense	probably damaging	0.99
R5401:Herc1	UTSW	9	66,502,056 (GRCm38)	missense	probably damaging	1.00
R5560:Herc1	UTSW	9	66,451,119 (GRCm38)	missense	probably benign	0.02
R5566:Herc1	UTSW	9	66,465,537 (GRCm38)	missense	possibly damaging	0.95
R5577:Herc1	UTSW	9	66,481,981 (GRCm38)	missense	probably damaging	0.99
R5596:Herc1	UTSW	9	66,434,063 (GRCm38)	critical splice acceptor site	probably benign
R5665:Herc1	UTSW	9	66,465,435 (GRCm38)	missense	probably damaging	1.00
R5744:Herc1	UTSW	9	66,508,193 (GRCm38)	missense	probably damaging	1.00
R5802:Herc1	UTSW	9	66,462,878 (GRCm38)	missense	probably damaging	1.00
R5822:Herc1	UTSW	9	66,445,612 (GRCm38)	missense	probably benign	0.00
R5954:Herc1	UTSW	9	66,451,492 (GRCm38)	splice site	probably benign
R5977:Herc1	UTSW	9	66,433,322 (GRCm38)	missense	possibly damaging	0.77
R6022:Herc1	UTSW	9	66,483,685 (GRCm38)	missense	probably damaging	1.00
R6043:Herc1	UTSW	9	66,408,154 (GRCm38)	missense	probably benign
R6046:Herc1	UTSW	9	66,445,549 (GRCm38)	missense	probably damaging	0.99
R6089:Herc1	UTSW	9	66,445,532 (GRCm38)	missense	probably damaging	1.00
R6123:Herc1	UTSW	9	66,497,250 (GRCm38)	missense	probably damaging	0.97
R6155:Herc1	UTSW	9	66,433,423 (GRCm38)	missense	possibly damaging	0.95
R6190:Herc1	UTSW	9	66,376,381 (GRCm38)	missense	possibly damaging	0.56
R6220:Herc1	UTSW	9	66,433,788 (GRCm38)	missense	probably damaging	1.00
R6265:Herc1	UTSW	9	66,372,016 (GRCm38)	missense	probably benign	0.05
R6348:Herc1	UTSW	9	66,487,976 (GRCm38)	missense	possibly damaging	0.77
R6362:Herc1	UTSW	9	66,471,908 (GRCm38)	missense	probably damaging	1.00
R6394:Herc1	UTSW	9	66,395,059 (GRCm38)	missense	probably damaging	0.99
R6434:Herc1	UTSW	9	66,486,182 (GRCm38)	missense	probably damaging	0.99
R6483:Herc1	UTSW	9	66,448,529 (GRCm38)	missense	possibly damaging	0.64
R6607:Herc1	UTSW	9	66,418,567 (GRCm38)	missense	probably benign	0.02
R6633:Herc1	UTSW	9	66,439,252 (GRCm38)	nonsense	probably null
R6634:Herc1	UTSW	9	66,437,744 (GRCm38)	missense	probably benign
R6693:Herc1	UTSW	9	66,478,976 (GRCm38)	missense	probably damaging	0.99
R6695:Herc1	UTSW	9	66,483,866 (GRCm38)	splice site	probably null
R6748:Herc1	UTSW	9	66,501,188 (GRCm38)	frame shift	probably null
R6750:Herc1	UTSW	9	66,501,188 (GRCm38)	frame shift	probably null
R6751:Herc1	UTSW	9	66,501,188 (GRCm38)	frame shift	probably null
R6774:Herc1	UTSW	9	66,501,188 (GRCm38)	frame shift	probably null
R6785:Herc1	UTSW	9	66,501,188 (GRCm38)	frame shift	probably null
R6786:Herc1	UTSW	9	66,501,188 (GRCm38)	frame shift	probably null
R6856:Herc1	UTSW	9	66,397,898 (GRCm38)	missense	probably benign	0.05
R6966:Herc1	UTSW	9	66,411,065 (GRCm38)	missense	probably benign	0.07
R7020:Herc1	UTSW	9	66,486,078 (GRCm38)	missense	probably benign	0.07
R7109:Herc1	UTSW	9	66,481,889 (GRCm38)	missense	probably benign	0.03
R7122:Herc1	UTSW	9	66,399,774 (GRCm38)	missense	possibly damaging	0.69
R7209:Herc1	UTSW	9	66,385,032 (GRCm38)	missense	possibly damaging	0.95
R7222:Herc1	UTSW	9	66,467,499 (GRCm38)	missense	probably damaging	0.98
R7303:Herc1	UTSW	9	66,450,816 (GRCm38)	missense	possibly damaging	0.93
R7305:Herc1	UTSW	9	66,461,868 (GRCm38)	missense
R7438:Herc1	UTSW	9	66,394,756 (GRCm38)	missense	probably benign	0.00
R7535:Herc1	UTSW	9	66,474,853 (GRCm38)	missense	probably damaging	1.00
R7585:Herc1	UTSW	9	66,445,547 (GRCm38)	missense	probably damaging	1.00
R7603:Herc1	UTSW	9	66,451,383 (GRCm38)	nonsense	probably null
R7670:Herc1	UTSW	9	66,416,347 (GRCm38)	missense	probably damaging	0.99
R7705:Herc1	UTSW	9	66,439,834 (GRCm38)	missense	possibly damaging	0.86
R7723:Herc1	UTSW	9	66,371,876 (GRCm38)	missense	probably benign	0.24
R7730:Herc1	UTSW	9	66,493,190 (GRCm38)	small deletion	probably benign
R7880:Herc1	UTSW	9	66,508,224 (GRCm38)	missense	probably damaging	0.99
R7958:Herc1	UTSW	9	66,486,193 (GRCm38)	missense	probably damaging	1.00
R7976:Herc1	UTSW	9	66,434,270 (GRCm38)	missense	possibly damaging	0.94
R8006:Herc1	UTSW	9	66,445,560 (GRCm38)	nonsense	probably null
R8084:Herc1	UTSW	9	66,475,935 (GRCm38)	missense	probably benign	0.45
R8094:Herc1	UTSW	9	66,493,180 (GRCm38)	missense	probably damaging	0.98
R8099:Herc1	UTSW	9	66,372,140 (GRCm38)	missense	probably damaging	1.00
R8151:Herc1	UTSW	9	66,433,791 (GRCm38)	missense	probably damaging	0.98
R8159:Herc1	UTSW	9	66,461,721 (GRCm38)	missense	probably null
R8190:Herc1	UTSW	9	66,418,451 (GRCm38)	missense	probably benign	0.00
R8213:Herc1	UTSW	9	66,450,888 (GRCm38)	missense	probably damaging	0.99
R8230:Herc1	UTSW	9	66,470,316 (GRCm38)	missense	probably damaging	0.99
R8265:Herc1	UTSW	9	66,386,704 (GRCm38)	nonsense	probably null
R8270:Herc1	UTSW	9	66,487,950 (GRCm38)	missense	probably damaging	1.00
R8353:Herc1	UTSW	9	66,508,289 (GRCm38)	missense	possibly damaging	0.88
R8423:Herc1	UTSW	9	66,508,160 (GRCm38)	missense	probably damaging	0.99
R8506:Herc1	UTSW	9	66,473,581 (GRCm38)	missense	possibly damaging	0.52
R8523:Herc1	UTSW	9	66,450,942 (GRCm38)	missense	probably benign
R8530:Herc1	UTSW	9	66,418,628 (GRCm38)	missense	probably benign
R8545:Herc1	UTSW	9	66,371,975 (GRCm38)	nonsense	probably null
R8682:Herc1	UTSW	9	66,462,848 (GRCm38)	missense
R8720:Herc1	UTSW	9	66,481,823 (GRCm38)	missense	probably benign	0.38
R8792:Herc1	UTSW	9	66,465,486 (GRCm38)	missense	probably damaging	1.00
R8915:Herc1	UTSW	9	66,411,174 (GRCm38)	missense	probably damaging	1.00
R8964:Herc1	UTSW	9	66,445,590 (GRCm38)	missense	probably damaging	1.00
R9056:Herc1	UTSW	9	66,473,500 (GRCm38)	missense	probably benign	0.10
R9158:Herc1	UTSW	9	66,469,118 (GRCm38)	missense	probably benign	0.00
R9167:Herc1	UTSW	9	66,504,618 (GRCm38)	missense	possibly damaging	0.75
R9192:Herc1	UTSW	9	66,414,131 (GRCm38)	missense	probably benign	0.35
R9252:Herc1	UTSW	9	66,402,552 (GRCm38)	missense	probably damaging	1.00
R9260:Herc1	UTSW	9	66,418,409 (GRCm38)	nonsense	probably null
R9261:Herc1	UTSW	9	66,504,847 (GRCm38)	missense	probably damaging	0.98
R9430:Herc1	UTSW	9	66,418,503 (GRCm38)	nonsense	probably null
R9519:Herc1	UTSW	9	66,400,074 (GRCm38)	missense	probably damaging	0.97
R9563:Herc1	UTSW	9	66,386,911 (GRCm38)	critical splice donor site	probably null
R9589:Herc1	UTSW	9	66,465,558 (GRCm38)	missense	possibly damaging	0.95
R9600:Herc1	UTSW	9	66,397,312 (GRCm38)	missense	possibly damaging	0.95
R9659:Herc1	UTSW	9	66,399,903 (GRCm38)	missense	probably benign	0.03
R9740:Herc1	UTSW	9	66,448,514 (GRCm38)	missense	probably damaging	1.00
R9774:Herc1	UTSW	9	66,464,750 (GRCm38)	missense	probably null
R9781:Herc1	UTSW	9	66,372,722 (GRCm38)	missense	probably benign
R9788:Herc1	UTSW	9	66,399,903 (GRCm38)	missense	probably benign	0.03
RF023:Herc1	UTSW	9	66,458,334 (GRCm38)	missense
X0011:Herc1	UTSW	9	66,400,159 (GRCm38)	missense	probably benign	0.28
X0067:Herc1	UTSW	9	66,448,524 (GRCm38)	missense	probably benign	0.03
Z1176:Herc1	UTSW	9	66,434,576 (GRCm38)	missense	probably benign
Z1177:Herc1	UTSW	9	66,471,911 (GRCm38)	missense	probably damaging	0.99
Z1177:Herc1	UTSW	9	66,458,425 (GRCm38)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGTATTTCCAGTCCTTAGGTCAACG -3'
(R):5'- GGTGAGCCTCCAACTTGATAAAAGAGC -3'

Sequencing Primer
(F):5'- CCTTAGGTCAACGACTGTTTATTG -3'
(R):5'- CCAACTTGATAAAAGAGCATTTTCTG -3'

Posted On

2014-05-23