Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Herc1'

208738

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

039889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66350450-66508775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66450791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 2385 (G2385S)

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: G2385S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044801
Gene: ENSMUSG00000038664
AA Change: G2385S

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186450

Coding Region Coverage

1x: 97.4%
3x: 96.8%
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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,892,831	E9V	probably benign	Het
Armc8	T	A	9: 99,536,280	T32S	probably benign	Het
Atr	T	A	9: 95,870,605		probably null	Het
Blm	A	G	7: 80,494,114	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,969,214	F51L	probably damaging	Het
Cdcp2	A	G	4: 107,107,000	N349S	probably damaging	Het
Cfap57	G	A	4: 118,599,927	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,878,481	L173P	probably damaging	Het
Cpb1	C	G	3: 20,263,756	M201I	probably benign	Het
Dgcr8	A	T	16: 18,258,314	N2K	probably damaging	Het
Dnah3	A	T	7: 119,928,856		probably null	Het
Dnah6	T	A	6: 73,100,088	Q2398L	probably benign	Het
Dpep2	A	T	8: 105,989,448		probably null	Het
E430018J23Rik	A	G	7: 127,393,331	W36R	probably damaging	Het
Eif2ak4	C	A	2: 118,472,661	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,851,914	V496A	probably damaging	Het
Fam174a	A	C	1: 95,313,895	S27R	probably benign	Het
Fat2	T	A	11: 55,292,014	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,645,823	D188E	possibly damaging	Het
Focad	A	G	4: 88,407,165	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,186,398	Q661K	probably benign	Het
Gck	T	C	11: 5,903,253	Y289C	probably benign	Het
Gm156	A	G	6: 129,775,380		probably null	Het
Gm16181	T	A	17: 35,223,937		probably benign	Het
Igfn1	T	C	1: 135,974,868		probably null	Het
Il12b	T	C	11: 44,408,526	W141R	probably damaging	Het
Itga6	T	A	2: 71,834,070	S517T	probably benign	Het
Kank1	A	G	19: 25,411,449	S801G	probably benign	Het
Lctl	A	G	9: 64,131,721	D205G	probably damaging	Het
Lhx3	A	C	2: 26,203,974	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,497,138	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,747,849	E505D	probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map6	A	G	7: 99,315,876	S291G	probably damaging	Het
Mapk7	A	G	11: 61,489,413	F671L	probably benign	Het
Mau2	A	G	8: 70,031,492	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,828,515	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Mical1	C	A	10: 41,485,470	P797Q	probably benign	Het
Mnx1	G	A	5: 29,474,045	R347C	unknown	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,327,716	C560*	probably null	Het
Npat	T	A	9: 53,563,116	L736H	probably damaging	Het
Nup155	T	A	15: 8,115,526	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,326,821	F45L	probably benign	Het
Obscn	T	C	11: 59,060,915	D4370G	probably benign	Het
Olfr1000	T	A	2: 85,608,844	H22L	probably benign	Het
Olfr1047	A	C	2: 86,228,728	M81R	probably damaging	Het
Olfr1252	T	C	2: 89,721,206	K302E	probably benign	Het
Olfr1260	T	C	2: 89,978,327	L183S	probably damaging	Het
Olfr1425	A	G	19: 12,073,819	V271A	probably benign	Het
Olfr1532-ps1	A	G	7: 106,915,066	I289M	probably damaging	Het
Olfr658	A	G	7: 104,644,797	S190P	probably benign	Het
Pcx	T	C	19: 4,621,221	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,152,716	S589R	probably benign	Het
Plcb1	T	C	2: 135,344,173	F687L	probably benign	Het
Plk5	G	T	10: 80,360,569		probably null	Het
Pnpla2	T	A	7: 141,455,416	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,262,431	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,190,773		probably null	Het
Prom2	T	C	2: 127,536,594	D460G	probably damaging	Het
Pros1	A	G	16: 62,928,135	H657R	possibly damaging	Het
Prune2	A	G	19: 17,123,492	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,478,935	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,112,529	E858D	probably benign	Het
Rbm48	T	C	5: 3,595,997	Y69C	probably damaging	Het
Rgs12	T	A	5: 34,965,674	I267N	probably damaging	Het
Rpusd2	G	T	2: 119,035,247	A142S	probably benign	Het
Rspo2	A	T	15: 43,075,936	W153R	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Serinc5	T	A	13: 92,706,263	M407K	probably damaging	Het
Slain2	T	C	5: 72,957,322	S299P	probably damaging	Het
Slc17a4	A	G	13: 23,900,545	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,791,349	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,711,141	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,359,968	F91L	probably damaging	Het
Spag5	C	A	11: 78,304,455	T196K	possibly damaging	Het
Susd2	G	T	10: 75,639,732	A326D	probably damaging	Het
Syna	G	T	5: 134,559,915	A60D	probably damaging	Het
Tchh	A	T	3: 93,447,760	E1502D	unknown	Het
Tecta	T	C	9: 42,392,024	H104R	probably damaging	Het
Tmed1	T	C	9: 21,509,091	D102G	probably damaging	Het
Trip12	T	C	1: 84,745,060	D128G	probably damaging	Het
Uroc1	A	G	6: 90,361,524	M656V	probably benign	Het
Usp47	T	A	7: 112,101,870	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,762,770	K115*	probably null	Het
Vmn2r19	G	T	6: 123,331,638		probably null	Het
Vmn2r86	A	T	10: 130,446,386	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,472,572	I599N	possibly damaging	Het
Vwf	A	G	6: 125,667,529	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,136,906	C22S	probably benign	Het
Zc3h7a	A	G	16: 11,147,304	I655T	possibly damaging	Het

Other mutations in Herc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Herc1	APN	9	66483966	missense	probably benign	0.02
IGL00159:Herc1	APN	9	66437682	missense	possibly damaging	0.94
IGL00486:Herc1	APN	9	66476120	missense	probably benign
IGL00717:Herc1	APN	9	66485002	missense	probably damaging	1.00
IGL00766:Herc1	APN	9	66450741	missense	probably damaging	1.00
IGL00776:Herc1	APN	9	66421038	missense	probably benign
IGL00987:Herc1	APN	9	66408052	missense	probably benign	0.07
IGL01090:Herc1	APN	9	66469175	nonsense	probably null
IGL01098:Herc1	APN	9	66461922	critical splice donor site	probably null
IGL01106:Herc1	APN	9	66476438	splice site	probably benign
IGL01120:Herc1	APN	9	66428880	missense	probably benign
IGL01359:Herc1	APN	9	66439268	missense	probably benign	0.01
IGL01360:Herc1	APN	9	66483699	missense	probably benign
IGL01364:Herc1	APN	9	66399361	missense	probably benign	0.00
IGL01470:Herc1	APN	9	66497636	missense	possibly damaging	0.94
IGL01670:Herc1	APN	9	66487060	missense	probably damaging	1.00
IGL01825:Herc1	APN	9	66399807	missense	probably benign	0.00
IGL01903:Herc1	APN	9	66386872	nonsense	probably null
IGL01988:Herc1	APN	9	66488075	splice site	probably benign
IGL02074:Herc1	APN	9	66450983	missense	probably benign
IGL02089:Herc1	APN	9	66480869	missense	probably damaging	1.00
IGL02177:Herc1	APN	9	66434511	missense	probably benign
IGL02300:Herc1	APN	9	66476363	missense	probably benign	0.01
IGL02304:Herc1	APN	9	66476414	missense	probably benign	0.06
IGL02369:Herc1	APN	9	66492011	nonsense	probably null
IGL02445:Herc1	APN	9	66433482	missense	possibly damaging	0.95
IGL02447:Herc1	APN	9	66497328	missense	possibly damaging	0.59
IGL02549:Herc1	APN	9	66399901	missense	probably damaging	0.98
IGL02571:Herc1	APN	9	66434605	splice site	probably benign
IGL02709:Herc1	APN	9	66497680	missense	probably damaging	0.97
IGL02717:Herc1	APN	9	66371921	nonsense	probably null
IGL02726:Herc1	APN	9	66441988	missense	probably benign	0.37
IGL02733:Herc1	APN	9	66450992	missense	probably benign
IGL02963:Herc1	APN	9	66388823	missense	probably damaging	0.99
IGL03101:Herc1	APN	9	66487997	missense	probably benign
IGL03193:Herc1	APN	9	66402680	missense	probably benign
IGL03203:Herc1	APN	9	66388900	critical splice donor site	probably null
IGL03216:Herc1	APN	9	66478946	missense	probably benign	0.06
IGL03282:Herc1	APN	9	66451459	missense	probably benign	0.05
IGL03295:Herc1	APN	9	66396703	missense	possibly damaging	0.56
cradle	UTSW	9	66483866	splice site	probably null
miracles	UTSW	9	66462837	nonsense	probably null
newton	UTSW	9	66467803	missense	probably damaging	1.00
R0907_Herc1_362	UTSW	9	66433428	missense	possibly damaging	0.94
R4427_Herc1_231	UTSW	9	66496005	missense	probably damaging	1.00
R5026_Herc1_363	UTSW	9	66486126	missense	probably benign	0.03
stables	UTSW	9	66479453	missense	probably benign	0.13
strangle	UTSW	9	66501188	frame shift	probably null
IGL03134:Herc1	UTSW	9	66434063	critical splice acceptor site	probably benign
PIT4243001:Herc1	UTSW	9	66372207	missense	probably benign	0.00
PIT4486001:Herc1	UTSW	9	66372389	missense	probably damaging	1.00
PIT4696001:Herc1	UTSW	9	66479009	missense	probably damaging	1.00
R0044:Herc1	UTSW	9	66448175	missense	probably benign	0.04
R0044:Herc1	UTSW	9	66448175	missense	probably benign	0.04
R0052:Herc1	UTSW	9	66400156	missense	probably damaging	0.99
R0114:Herc1	UTSW	9	66461846	missense	probably damaging	0.99
R0129:Herc1	UTSW	9	66448075	missense	probably damaging	1.00
R0131:Herc1	UTSW	9	66480910	missense	probably benign	0.00
R0131:Herc1	UTSW	9	66480910	missense	probably benign	0.00
R0132:Herc1	UTSW	9	66480910	missense	probably benign	0.00
R0158:Herc1	UTSW	9	66495921	nonsense	probably null
R0333:Herc1	UTSW	9	66464699	splice site	probably null
R0384:Herc1	UTSW	9	66481050	splice site	probably benign
R0419:Herc1	UTSW	9	66446074	splice site	probably benign
R0453:Herc1	UTSW	9	66399772	missense	probably benign	0.20
R0458:Herc1	UTSW	9	66476381	missense	probably benign	0.12
R0490:Herc1	UTSW	9	66484999	missense	probably damaging	1.00
R0506:Herc1	UTSW	9	66448159	missense	probably damaging	0.99
R0513:Herc1	UTSW	9	66445645	missense	possibly damaging	0.96
R0628:Herc1	UTSW	9	66450881	missense	probably benign	0.35
R0666:Herc1	UTSW	9	66484888	splice site	probably benign
R0674:Herc1	UTSW	9	66501192	missense	probably damaging	0.99
R0682:Herc1	UTSW	9	66481981	missense	possibly damaging	0.95
R0690:Herc1	UTSW	9	66386838	nonsense	probably null
R0701:Herc1	UTSW	9	66487950	missense	probably damaging	1.00
R0766:Herc1	UTSW	9	66504840	missense	probably damaging	1.00
R0850:Herc1	UTSW	9	66466670	missense	probably damaging	1.00
R0907:Herc1	UTSW	9	66433428	missense	possibly damaging	0.94
R0972:Herc1	UTSW	9	66372145	missense	probably damaging	1.00
R0976:Herc1	UTSW	9	66439878	missense	possibly damaging	0.74
R1027:Herc1	UTSW	9	66455968	missense	probably benign
R1200:Herc1	UTSW	9	66486124	missense	probably damaging	1.00
R1226:Herc1	UTSW	9	66416263	missense	probably benign	0.00
R1364:Herc1	UTSW	9	66400093	missense	probably damaging	1.00
R1395:Herc1	UTSW	9	66439181	missense	probably benign	0.13
R1432:Herc1	UTSW	9	66465469	missense	probably benign	0.13
R1440:Herc1	UTSW	9	66467803	missense	probably damaging	1.00
R1476:Herc1	UTSW	9	66508266	missense	probably damaging	1.00
R1590:Herc1	UTSW	9	66491953	splice site	probably benign
R1634:Herc1	UTSW	9	66473538	missense	possibly damaging	0.51
R1700:Herc1	UTSW	9	66450678	splice site	probably null
R1753:Herc1	UTSW	9	66469010	missense	probably damaging	1.00
R1753:Herc1	UTSW	9	66502084	critical splice donor site	probably null
R1796:Herc1	UTSW	9	66388856	nonsense	probably null
R1830:Herc1	UTSW	9	66497599	missense	possibly damaging	0.95
R1855:Herc1	UTSW	9	66391426	missense	possibly damaging	0.95
R1894:Herc1	UTSW	9	66479461	missense	probably damaging	1.00
R1918:Herc1	UTSW	9	66476126	splice site	probably null
R1999:Herc1	UTSW	9	66486078	missense	probably benign	0.07
R2034:Herc1	UTSW	9	66441972	missense	probably benign	0.01
R2138:Herc1	UTSW	9	66470307	missense	possibly damaging	0.94
R2186:Herc1	UTSW	9	66439901	missense	probably benign	0.45
R2192:Herc1	UTSW	9	66465406	missense	probably damaging	0.99
R2312:Herc1	UTSW	9	66508281	nonsense	probably null
R2338:Herc1	UTSW	9	66428969	missense	possibly damaging	0.69
R3035:Herc1	UTSW	9	66483935	missense	possibly damaging	0.89
R3732:Herc1	UTSW	9	66445640	missense	probably damaging	1.00
R3732:Herc1	UTSW	9	66445640	missense	probably damaging	1.00
R3733:Herc1	UTSW	9	66445640	missense	probably damaging	1.00
R3917:Herc1	UTSW	9	66434466	missense	possibly damaging	0.94
R3953:Herc1	UTSW	9	66433793	nonsense	probably null
R4073:Herc1	UTSW	9	66418492	missense	probably benign	0.12
R4075:Herc1	UTSW	9	66418492	missense	probably benign	0.12
R4241:Herc1	UTSW	9	66448348	frame shift	probably null
R4260:Herc1	UTSW	9	66448348	frame shift	probably null
R4261:Herc1	UTSW	9	66448348	frame shift	probably null
R4300:Herc1	UTSW	9	66489406	missense	probably damaging	1.00
R4398:Herc1	UTSW	9	66479453	missense	probably benign	0.13
R4426:Herc1	UTSW	9	66496005	missense	probably damaging	1.00
R4427:Herc1	UTSW	9	66496005	missense	probably damaging	1.00
R4590:Herc1	UTSW	9	66437664	missense	probably damaging	0.97
R4630:Herc1	UTSW	9	66433714	splice site	probably null
R4656:Herc1	UTSW	9	66394711	missense	probably damaging	0.97
R4658:Herc1	UTSW	9	66479491	missense	possibly damaging	0.50
R4663:Herc1	UTSW	9	66433378	missense	probably damaging	0.98
R4675:Herc1	UTSW	9	66391458	missense	probably damaging	1.00
R4678:Herc1	UTSW	9	66416269	missense	probably benign	0.00
R4754:Herc1	UTSW	9	66501206	missense	probably benign	0.00
R4766:Herc1	UTSW	9	66441929	missense	probably benign	0.00
R4792:Herc1	UTSW	9	66495984	missense	possibly damaging	0.67
R4828:Herc1	UTSW	9	66497343	splice site	probably null
R4832:Herc1	UTSW	9	66495971	missense	probably benign	0.11
R4879:Herc1	UTSW	9	66462837	nonsense	probably null
R4948:Herc1	UTSW	9	66484902	missense	probably benign
R5021:Herc1	UTSW	9	66470326	missense	possibly damaging	0.48
R5022:Herc1	UTSW	9	66470326	missense	possibly damaging	0.48
R5023:Herc1	UTSW	9	66470326	missense	possibly damaging	0.48
R5024:Herc1	UTSW	9	66470326	missense	possibly damaging	0.48
R5025:Herc1	UTSW	9	66470326	missense	possibly damaging	0.48
R5026:Herc1	UTSW	9	66486126	missense	probably benign	0.03
R5027:Herc1	UTSW	9	66473529	missense	probably benign	0.01
R5027:Herc1	UTSW	9	66504618	missense	probably damaging	0.98
R5038:Herc1	UTSW	9	66476460	intron	probably benign
R5041:Herc1	UTSW	9	66429045	missense	possibly damaging	0.86
R5053:Herc1	UTSW	9	66470326	missense	possibly damaging	0.48
R5137:Herc1	UTSW	9	66448223	missense	probably benign
R5197:Herc1	UTSW	9	66448504	missense	probably damaging	0.99
R5207:Herc1	UTSW	9	66399869	nonsense	probably null
R5247:Herc1	UTSW	9	66434551	missense	probably benign	0.01
R5267:Herc1	UTSW	9	66461809	missense	probably damaging	1.00
R5274:Herc1	UTSW	9	66399409	missense	probably benign
R5375:Herc1	UTSW	9	66467887	missense	probably damaging	0.99
R5401:Herc1	UTSW	9	66502056	missense	probably damaging	1.00
R5560:Herc1	UTSW	9	66451119	missense	probably benign	0.02
R5566:Herc1	UTSW	9	66465537	missense	possibly damaging	0.95
R5577:Herc1	UTSW	9	66481981	missense	probably damaging	0.99
R5596:Herc1	UTSW	9	66434063	critical splice acceptor site	probably benign
R5665:Herc1	UTSW	9	66465435	missense	probably damaging	1.00
R5744:Herc1	UTSW	9	66508193	missense	probably damaging	1.00
R5802:Herc1	UTSW	9	66462878	missense	probably damaging	1.00
R5822:Herc1	UTSW	9	66445612	missense	probably benign	0.00
R5954:Herc1	UTSW	9	66451492	splice site	probably benign
R5977:Herc1	UTSW	9	66433322	missense	possibly damaging	0.77
R6022:Herc1	UTSW	9	66483685	missense	probably damaging	1.00
R6043:Herc1	UTSW	9	66408154	missense	probably benign
R6046:Herc1	UTSW	9	66445549	missense	probably damaging	0.99
R6089:Herc1	UTSW	9	66445532	missense	probably damaging	1.00
R6123:Herc1	UTSW	9	66497250	missense	probably damaging	0.97
R6155:Herc1	UTSW	9	66433423	missense	possibly damaging	0.95
R6190:Herc1	UTSW	9	66376381	missense	possibly damaging	0.56
R6220:Herc1	UTSW	9	66433788	missense	probably damaging	1.00
R6265:Herc1	UTSW	9	66372016	missense	probably benign	0.05
R6348:Herc1	UTSW	9	66487976	missense	possibly damaging	0.77
R6362:Herc1	UTSW	9	66471908	missense	probably damaging	1.00
R6394:Herc1	UTSW	9	66395059	missense	probably damaging	0.99
R6434:Herc1	UTSW	9	66486182	missense	probably damaging	0.99
R6483:Herc1	UTSW	9	66448529	missense	possibly damaging	0.64
R6607:Herc1	UTSW	9	66418567	missense	probably benign	0.02
R6633:Herc1	UTSW	9	66439252	nonsense	probably null
R6634:Herc1	UTSW	9	66437744	missense	probably benign
R6693:Herc1	UTSW	9	66478976	missense	probably damaging	0.99
R6695:Herc1	UTSW	9	66483866	splice site	probably null
R6748:Herc1	UTSW	9	66501188	frame shift	probably null
R6750:Herc1	UTSW	9	66501188	frame shift	probably null
R6751:Herc1	UTSW	9	66501188	frame shift	probably null
R6774:Herc1	UTSW	9	66501188	frame shift	probably null
R6785:Herc1	UTSW	9	66501188	frame shift	probably null
R6786:Herc1	UTSW	9	66501188	frame shift	probably null
R6856:Herc1	UTSW	9	66397898	missense	probably benign	0.05
R6966:Herc1	UTSW	9	66411065	missense	probably benign	0.07
R7020:Herc1	UTSW	9	66486078	missense	probably benign	0.07
R7109:Herc1	UTSW	9	66481889	missense	probably benign	0.03
R7122:Herc1	UTSW	9	66399774	missense	possibly damaging	0.69
R7209:Herc1	UTSW	9	66385032	missense	possibly damaging	0.95
R7222:Herc1	UTSW	9	66467499	missense	probably damaging	0.98
R7303:Herc1	UTSW	9	66450816	missense	possibly damaging	0.93
R7305:Herc1	UTSW	9	66461868	missense
R7438:Herc1	UTSW	9	66394756	missense	probably benign	0.00
R7535:Herc1	UTSW	9	66474853	missense	probably damaging	1.00
R7585:Herc1	UTSW	9	66445547	missense	probably damaging	1.00
R7603:Herc1	UTSW	9	66451383	nonsense	probably null
R7670:Herc1	UTSW	9	66416347	missense	probably damaging	0.99
R7705:Herc1	UTSW	9	66439834	missense	possibly damaging	0.86
R7723:Herc1	UTSW	9	66371876	missense	probably benign	0.24
R7730:Herc1	UTSW	9	66493190	small deletion	probably benign
R7880:Herc1	UTSW	9	66508224	missense	probably damaging	0.99
R7958:Herc1	UTSW	9	66486193	missense	probably damaging	1.00
R7976:Herc1	UTSW	9	66434270	missense	possibly damaging	0.94
R8006:Herc1	UTSW	9	66445560	nonsense	probably null
R8084:Herc1	UTSW	9	66475935	missense	probably benign	0.45
R8094:Herc1	UTSW	9	66493180	missense	probably damaging	0.98
R8099:Herc1	UTSW	9	66372140	missense	probably damaging	1.00
R8151:Herc1	UTSW	9	66433791	missense	probably damaging	0.98
R8159:Herc1	UTSW	9	66461721	missense	probably null
R8190:Herc1	UTSW	9	66418451	missense	probably benign	0.00
R8213:Herc1	UTSW	9	66450888	missense	probably damaging	0.99
R8230:Herc1	UTSW	9	66470316	missense	probably damaging	0.99
R8265:Herc1	UTSW	9	66386704	nonsense	probably null
R8270:Herc1	UTSW	9	66487950	missense	probably damaging	1.00
R8353:Herc1	UTSW	9	66508289	missense	possibly damaging	0.88
R8423:Herc1	UTSW	9	66508160	missense	probably damaging	0.99
R8506:Herc1	UTSW	9	66473581	missense	possibly damaging	0.52
R8523:Herc1	UTSW	9	66450942	missense	probably benign
R8530:Herc1	UTSW	9	66418628	missense	probably benign
R8545:Herc1	UTSW	9	66371975	nonsense	probably null
R8682:Herc1	UTSW	9	66462848	missense
R8720:Herc1	UTSW	9	66481823	missense	probably benign	0.38
R8792:Herc1	UTSW	9	66465486	missense	probably damaging	1.00
R8915:Herc1	UTSW	9	66411174	missense	probably damaging	1.00
R8964:Herc1	UTSW	9	66445590	missense	probably damaging	1.00
R9056:Herc1	UTSW	9	66473500	missense	probably benign	0.10
R9158:Herc1	UTSW	9	66469118	missense	probably benign	0.00
R9167:Herc1	UTSW	9	66504618	missense	possibly damaging	0.75
R9192:Herc1	UTSW	9	66414131	missense	probably benign	0.35
R9252:Herc1	UTSW	9	66402552	missense	probably damaging	1.00
R9260:Herc1	UTSW	9	66418409	nonsense	probably null
R9261:Herc1	UTSW	9	66504847	missense	probably damaging	0.98
R9430:Herc1	UTSW	9	66418503	nonsense	probably null
R9519:Herc1	UTSW	9	66400074	missense	probably damaging	0.97
R9563:Herc1	UTSW	9	66386911	critical splice donor site	probably null
R9589:Herc1	UTSW	9	66465558	missense	possibly damaging	0.95
R9600:Herc1	UTSW	9	66397312	missense	possibly damaging	0.95
R9659:Herc1	UTSW	9	66399903	missense	probably benign	0.03
R9740:Herc1	UTSW	9	66448514	missense	probably damaging	1.00
R9774:Herc1	UTSW	9	66464750	missense	probably null
R9781:Herc1	UTSW	9	66372722	missense	probably benign
R9788:Herc1	UTSW	9	66399903	missense	probably benign	0.03
RF023:Herc1	UTSW	9	66458334	missense
X0011:Herc1	UTSW	9	66400159	missense	probably benign	0.28
X0067:Herc1	UTSW	9	66448524	missense	probably benign	0.03
Z1176:Herc1	UTSW	9	66434576	missense	probably benign
Z1177:Herc1	UTSW	9	66458425	missense	probably null
Z1177:Herc1	UTSW	9	66471911	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCATCACATGTCTAGTTCCTC -3'
(R):5'- ACCCTGTTCGCACATCTAAAATG -3'

Sequencing Primer
(F):5'- TCTCAACATTGTGTTCATGATGTG -3'
(R):5'- CCTGTTCGCACATCTAAAATGGATTC -3'

Posted On

2014-06-30