Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Herc1'

389261

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

042613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66350450-66508775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66470326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 3458 (K3458M)

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: K3458M

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044801
Gene: ENSMUSG00000038664
AA Change: K3458M

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

Meta Mutation Damage Score

0.0965

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570 (GRCm38)		probably null	Het
Abca15	T	C	7: 120,346,096 (GRCm38)	I465T	probably damaging	Het
Abca3	C	T	17: 24,374,300 (GRCm38)	R224C	probably damaging	Het
Abcb4	T	A	5: 8,909,054 (GRCm38)		probably null	Het
Acan	T	C	7: 79,092,808 (GRCm38)		probably null	Het
Aebp2	G	A	6: 140,637,730 (GRCm38)	R109Q	possibly damaging	Het
Agfg2	A	T	5: 137,660,160 (GRCm38)		probably null	Het
Ankib1	T	A	5: 3,734,011 (GRCm38)	I322F	possibly damaging	Het
AW551984	A	T	9: 39,597,965 (GRCm38)	N293K	probably benign	Het
BC028528	T	A	3: 95,888,823 (GRCm38)		probably benign	Het
Bicc1	A	G	10: 70,947,883 (GRCm38)	S393P	possibly damaging	Het
Birc6	A	G	17: 74,692,332 (GRCm38)	Y4656C	probably damaging	Het
Bmp3	A	G	5: 98,872,824 (GRCm38)	R369G	probably damaging	Het
C1d	T	A	11: 17,266,674 (GRCm38)	N135K	probably benign	Het
Ccdc148	G	A	2: 58,827,632 (GRCm38)	A453V	probably damaging	Het
Cd163	C	T	6: 124,325,288 (GRCm38)	T937I	probably damaging	Het
Celf2	C	T	2: 6,607,847 (GRCm38)		probably benign	Het
Chga	T	C	12: 102,562,837 (GRCm38)	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,200,956 (GRCm38)	S77C	probably null	Het
Crim1	T	C	17: 78,280,129 (GRCm38)	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,217,633 (GRCm38)	S116T	probably damaging	Het
Dlg5	T	C	14: 24,136,622 (GRCm38)	E1847G	probably damaging	Het
Dmxl1	T	A	18: 49,895,127 (GRCm38)	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,373,741 (GRCm38)	L355Q	probably damaging	Het
Eif1ad15	T	C	12: 88,321,301 (GRCm38)	I61V	probably benign	Het
Eif1ad16	A	T	12: 88,018,711 (GRCm38)	S21T	unknown	Het
Exd2	T	A	12: 80,496,790 (GRCm38)	N582K	probably damaging	Het
Fbln1	G	A	15: 85,237,626 (GRCm38)	S316N	probably damaging	Het
Fchsd1	A	G	18: 37,964,810 (GRCm38)	I340T	possibly damaging	Het
Fn1	T	C	1: 71,624,179 (GRCm38)	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,979,429 (GRCm38)	I2031V	probably benign	Het
Gm10803	A	C	2: 93,564,172 (GRCm38)	L96F	probably damaging	Het
Gm14569	T	C	X: 36,430,817 (GRCm38)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351 (GRCm38)		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535 (GRCm38)		noncoding transcript	Het
Gm5420	A	T	10: 21,691,727 (GRCm38)		noncoding transcript	Het
Gm7104	A	T	12: 88,285,759 (GRCm38)		noncoding transcript	Het
Gp2	A	G	7: 119,449,114 (GRCm38)	I427T	probably damaging	Het
Gpc4	G	A	X: 52,074,563 (GRCm38)	R148C	probably damaging	Het
Gpr142	A	C	11: 114,804,388 (GRCm38)	S60R	probably benign	Het
Helz2	T	C	2: 181,240,569 (GRCm38)	R144G	probably benign	Het
Hnf4g	G	T	3: 3,644,587 (GRCm38)	A144S	probably damaging	Het
Irs2	A	C	8: 10,987,012 (GRCm38)	*1322G	probably null	Het
Keg1	A	G	19: 12,719,157 (GRCm38)	N288S	probably damaging	Het
Kif19a	G	A	11: 114,767,227 (GRCm38)	M37I	probably benign	Het
Klhl1	G	A	14: 96,136,706 (GRCm38)	P635S	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,944,839 (GRCm38)	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630 (GRCm38)	Y215*	probably null	Het
Mdga2	C	T	12: 66,470,760 (GRCm38)	C100Y	possibly damaging	Het
Mthfd1	T	G	12: 76,294,374 (GRCm38)	V480G	probably damaging	Het
Mthfd1	T	A	12: 76,301,328 (GRCm38)	M582K	probably damaging	Het
Myh7b	G	C	2: 155,632,373 (GRCm38)	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,756,980 (GRCm38)	Y239H	probably damaging	Het
Nat8	G	A	6: 85,830,857 (GRCm38)	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,898,660 (GRCm38)	A161S	probably benign	Het
Nexmif	A	T	X: 104,087,350 (GRCm38)	N320K	probably damaging	Het
Or10h1	T	C	17: 33,199,777 (GRCm38)	F239S	probably damaging	Het
Or2m12	A	T	16: 19,286,059 (GRCm38)	V228D	probably damaging	Het
Or2r3	A	T	6: 42,471,287 (GRCm38)	V297E	possibly damaging	Het
Or4c111	A	G	2: 89,014,043 (GRCm38)	V7A	probably damaging	Het
Or4c122	C	T	2: 89,249,417 (GRCm38)	M92I	probably benign	Het
Or4k15	T	C	14: 50,127,012 (GRCm38)	V145A	possibly damaging	Het
Or52e2	G	A	7: 103,155,735 (GRCm38)	P4L	probably benign	Het
Or6c69c	T	C	10: 130,074,593 (GRCm38)	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,450,170 (GRCm38)	N776K	probably benign	Het
Pip5k1c	G	A	10: 81,310,889 (GRCm38)		probably null	Het
Plk4	G	A	3: 40,802,077 (GRCm38)		probably null	Het
Prmt8	A	G	6: 127,711,163 (GRCm38)	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 34,883,599 (GRCm38)		probably benign	Het
Ptpn21	G	A	12: 98,679,407 (GRCm38)	R1091C	probably damaging	Het
Pwwp2b	C	T	7: 139,255,578 (GRCm38)	P312S	possibly damaging	Het
Rad21	A	T	15: 51,966,706 (GRCm38)	I503K	probably benign	Het
Rai14	A	G	15: 10,574,506 (GRCm38)	S789P	probably damaging	Het
Rbm26	C	T	14: 105,144,252 (GRCm38)	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016 (GRCm38)		probably benign	Het
Ros1	A	G	10: 52,124,075 (GRCm38)	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,584,956 (GRCm38)	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,651,712 (GRCm38)	W281R	probably damaging	Het
Slc8a3	A	G	12: 81,199,558 (GRCm38)	V900A	probably damaging	Het
Spats2l	G	T	1: 57,879,556 (GRCm38)	V30L	probably damaging	Het
Spg21	A	G	9: 65,475,949 (GRCm38)	D139G	probably damaging	Het
Sun3	T	C	11: 9,038,314 (GRCm38)	T3A	probably damaging	Het
Tep1	A	G	14: 50,828,999 (GRCm38)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,907,241 (GRCm38)	G327E	probably damaging	Het
Timd5	T	A	11: 46,528,532 (GRCm38)	D58E	probably damaging	Het
Timm21	C	A	18: 84,949,414 (GRCm38)	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,742,065 (GRCm38)	N386K	probably benign	Het
Trappc10	G	T	10: 78,217,160 (GRCm38)	F260L	possibly damaging	Het
Trgv1	T	A	13: 19,340,231 (GRCm38)	S42T	probably benign	Het
Trmt112	T	C	19: 6,910,753 (GRCm38)	V91A	probably benign	Het
Ucp2	A	T	7: 100,498,372 (GRCm38)	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 21,012,320 (GRCm38)	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,611,387 (GRCm38)		probably null	Het
Vmn2r105	T	A	17: 20,208,414 (GRCm38)	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,411,159 (GRCm38)	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,386,548 (GRCm38)	L601P	probably damaging	Het
Vps16	A	G	2: 130,439,452 (GRCm38)	S235G	probably benign	Het
Wap	T	C	11: 6,637,339 (GRCm38)		probably benign	Het
Wdr11	A	G	7: 129,624,711 (GRCm38)	I744M	probably benign	Het
Xiap	T	C	X: 42,094,465 (GRCm38)	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380 (GRCm38)	T385A	probably benign	Het
Zfp524	A	T	7: 5,018,417 (GRCm38)	I315F	probably benign	Het
Zfp62	T	A	11: 49,215,729 (GRCm38)	S216T	probably damaging	Het
Znfx1	T	C	2: 167,039,826 (GRCm38)	Y217C	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
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
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
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'- GATTGAGCCTAGTAATCTAATGGC -3'
(R):5'- ACCATGGAAAGGTAAATGTGCATTC -3'

Sequencing Primer
(F):5'- CTCAAAATTTGGCTTGGC -3'
(R):5'- TGGAAAGGTAAATGTGCATTCTGTAG -3'

Posted On

2016-06-06