Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Herc1'

48016

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

038707-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66350450-66508775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66445645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 2138 (V2138M)

Ref Sequence

ENSEMBL: ENSMUSP00000044801 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042824
AA Change: V2138M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044801
Gene: ENSMUSG00000038664
AA Change: V2138M

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: ENSMUST00000140487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186450

Meta Mutation Damage Score

0.1110

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,469,659 (GRCm38)	T146A	probably benign	Het
4930452B06Rik	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
5830473C10Rik	A	T	5: 90,577,927 (GRCm38)	T333S	probably benign	Het
6720489N17Rik	A	C	13: 62,605,215 (GRCm38)	V99G	possibly damaging	Het
Abcg4	A	G	9: 44,281,687 (GRCm38)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,080,124 (GRCm38)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,519,519 (GRCm38)	D368E	probably benign	Het
Anapc15	T	C	7: 101,898,540 (GRCm38)		probably benign	Het
Aox4	A	G	1: 58,217,519 (GRCm38)	R67G	probably benign	Het
Aox4	A	G	1: 58,247,300 (GRCm38)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,765 (GRCm38)	S755T	probably benign	Het
Atm	A	G	9: 53,503,948 (GRCm38)	V881A	probably benign	Het
Cd163l1	C	A	7: 140,224,960 (GRCm38)	C625*	probably null	Het
Cdkal1	C	T	13: 29,625,965 (GRCm38)		probably benign	Het
Cfap61	C	A	2: 146,035,295 (GRCm38)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,785,977 (GRCm38)		probably benign	Het
Chrna1	C	A	2: 73,568,082 (GRCm38)		probably benign	Het
Chst10	A	G	1: 38,865,763 (GRCm38)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,760,562 (GRCm38)		probably null	Het
Cryzl1	G	T	16: 91,699,287 (GRCm38)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,576,547 (GRCm38)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,898,091 (GRCm38)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm38)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,200,308 (GRCm38)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,654,928 (GRCm38)		probably benign	Het
Dag1	G	A	9: 108,208,485 (GRCm38)	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,656,495 (GRCm38)	L33P	probably benign	Het
Dlc1	C	T	8: 36,584,010 (GRCm38)	G856R	probably damaging	Het
Dst	T	A	1: 34,219,531 (GRCm38)		probably benign	Het
Dtl	A	T	1: 191,569,707 (GRCm38)	Y79*	probably null	Het
Egfr	T	G	11: 16,872,855 (GRCm38)	L406R	probably damaging	Het
Elp3	A	T	14: 65,563,246 (GRCm38)		probably null	Het
Fbxw19	C	A	9: 109,481,553 (GRCm38)		probably null	Het
Frs2	T	C	10: 117,074,665 (GRCm38)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,361,880 (GRCm38)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,448,725 (GRCm38)		probably benign	Het
Gm4787	A	T	12: 81,378,312 (GRCm38)	N357K	probably benign	Het
Gm9956	G	T	10: 56,745,195 (GRCm38)			Het
Gsg1l	C	T	7: 126,020,623 (GRCm38)		probably null	Het
Htr2a	T	C	14: 74,706,324 (GRCm38)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,035 (GRCm38)	S255L	probably damaging	Het
Ispd	A	T	12: 36,390,468 (GRCm38)	H125L	probably damaging	Het
Krt78	T	C	15: 101,950,949 (GRCm38)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,729 (GRCm38)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,325,168 (GRCm38)	N53K	probably damaging	Het
Lsr	G	C	7: 30,958,338 (GRCm38)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,932,212 (GRCm38)		probably null	Het
Mill1	T	A	7: 18,264,877 (GRCm38)	Y337*	probably null	Het
Mlxipl	A	T	5: 135,137,263 (GRCm38)	Q833L	probably benign	Het
Mon2	C	T	10: 123,038,610 (GRCm38)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,841,733 (GRCm38)	M180L	probably benign	Het
Myo18a	A	T	11: 77,811,594 (GRCm38)		probably benign	Het
Myo1c	T	G	11: 75,665,831 (GRCm38)		probably null	Het
Myo1g	T	C	11: 6,510,203 (GRCm38)	T782A	probably benign	Het
Ncapd3	A	G	9: 27,064,105 (GRCm38)		probably benign	Het
Neb	T	C	2: 52,308,687 (GRCm38)	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,195,185 (GRCm38)		probably benign	Het
Nf2	T	C	11: 4,791,185 (GRCm38)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,603,846 (GRCm38)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,084,159 (GRCm38)	D699N	probably damaging	Het
Nrbp2	C	T	15: 76,088,976 (GRCm38)	A45T	probably benign	Het
Obscn	A	G	11: 59,061,522 (GRCm38)	V3907A	possibly damaging	Het
Olfr11	A	T	13: 21,638,949 (GRCm38)	D191E	probably benign	Het
Olfr1371	T	C	11: 52,213,749 (GRCm38)	Q80R	possibly damaging	Het
Olfr145	A	T	9: 37,898,055 (GRCm38)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,282,606 (GRCm38)	T290I	probably damaging	Het
Pbx4	T	C	8: 69,864,879 (GRCm38)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,080,574 (GRCm38)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,461,511 (GRCm38)	S778P	probably damaging	Het
Pld6	T	C	11: 59,785,221 (GRCm38)	I141M	probably damaging	Het
Polq	T	A	16: 37,094,502 (GRCm38)	V2508E	probably damaging	Het
Prkca	C	G	11: 108,014,376 (GRCm38)	D179H	possibly damaging	Het
Pspn	T	C	17: 56,999,720 (GRCm38)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,503,746 (GRCm38)	T846I	probably benign	Het
Reg3g	A	C	6: 78,467,844 (GRCm38)	Y50*	probably null	Het
Rev3l	C	T	10: 39,828,143 (GRCm38)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,912,991 (GRCm38)	Q611*	probably null	Het
Scgb1b20	G	A	7: 33,373,314 (GRCm38)		probably null	Het
Sfxn5	T	C	6: 85,269,973 (GRCm38)		probably benign	Het
Sh3tc1	T	A	5: 35,700,307 (GRCm38)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,194,565 (GRCm38)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,576,169 (GRCm38)		probably benign	Het
Slc8a2	A	C	7: 16,157,339 (GRCm38)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,997,184 (GRCm38)		noncoding transcript	Het
Smurf2	T	A	11: 106,836,105 (GRCm38)	T453S	probably benign	Het
Spag16	A	G	1: 70,493,768 (GRCm38)		probably benign	Het
Spindoc	G	A	19: 7,374,144 (GRCm38)	T205I	probably benign	Het
Stab1	T	C	14: 31,148,945 (GRCm38)	I1316V	probably benign	Het
Stox2	T	C	8: 47,193,865 (GRCm38)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,684,481 (GRCm38)	T93P	probably benign	Het
Tenm4	T	C	7: 96,895,623 (GRCm38)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,960,461 (GRCm38)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,053,529 (GRCm38)	H698L	probably benign	Het
Trim33	A	G	3: 103,310,384 (GRCm38)	D215G	probably damaging	Het
Ttc3	T	A	16: 94,426,212 (GRCm38)	I727N	probably damaging	Het
Ttn	T	A	2: 76,943,325 (GRCm38)	K2271N	probably damaging	Het
Ubr2	T	A	17: 46,986,779 (GRCm38)	K223*	probably null	Het
Ubr4	A	G	4: 139,416,875 (GRCm38)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,003,412 (GRCm38)		probably benign	Het
Ulk4	T	A	9: 121,152,325 (GRCm38)	H880L	probably benign	Het
Unc80	G	A	1: 66,622,474 (GRCm38)	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,957,667 (GRCm38)	L60Q	unknown	Het
Usf2	A	T	7: 30,954,736 (GRCm38)		probably benign	Het
Usp21	T	A	1: 171,283,014 (GRCm38)		probably benign	Het
Usp21	T	A	1: 171,283,012 (GRCm38)		probably benign	Het
Vmn2r118	T	A	17: 55,610,970 (GRCm38)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,073,729 (GRCm38)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 86,228,779 (GRCm38)	G470V	probably benign	Het
Vps13c	A	C	9: 67,930,735 (GRCm38)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm38)	L119F	probably damaging	Het
Wdfy3	T	A	5: 101,890,789 (GRCm38)	S2012C	probably damaging	Het
Zfp142	A	G	1: 74,571,555 (GRCm38)	V924A	probably damaging	Het
Zfp217	C	T	2: 170,115,462 (GRCm38)	A539T	probably benign	Het
Zfp235	T	C	7: 24,142,219 (GRCm38)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,889,987 (GRCm38)	V650I	probably benign	Het
Zfp82	A	T	7: 30,056,840 (GRCm38)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,823,264 (GRCm38)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,244,484 (GRCm38)	D2116N	probably damaging	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
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
R1753:Herc1	UTSW	9	66,469,010 (GRCm38)	missense	probably damaging	1.00
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'- CATGTGTTGGAGTCTCTCGCTGG -3'
(R):5'- GCTGCATCCACATCTTCAAAGGCTA -3'

Sequencing Primer
(F):5'- GGCCAGTACATGATTTTAATCACCG -3'
(R):5'- AACAGGTTTCAGTACCTCTCC -3'

Posted On

2013-06-12