Mutagenetix > Incidental Mutations

Incidental Mutation 'R1440:Herc1'

160943

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

039495-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1440 (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 66467803 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 3303 (D3303V)

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: D3303V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044801
Gene: ENSMUSG00000038664
AA Change: D3303V

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

Meta Mutation Damage Score

0.7608

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.7%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	G	12: 72,881,421	N512T	possibly damaging	Het
Aadacl2	A	T	3: 60,024,892	H276L	probably damaging	Het
Adam12	G	A	7: 133,931,814	T445M	probably benign	Het
Ash2l	A	T	8: 25,827,378	F290L	probably benign	Het
Asxl3	C	T	18: 22,525,224	P2097L	probably benign	Het
Atmin	A	G	8: 116,957,376	I592V	probably damaging	Het
Atxn2	T	C	5: 121,803,082		probably null	Het
BC004004	T	C	17: 29,296,691		probably null	Het
Cacna1e	T	C	1: 154,561,806	N328S	possibly damaging	Het
Cacna2d1	A	T	5: 16,355,495	K765I	probably damaging	Het
Cc2d1a	A	G	8: 84,133,975		probably null	Het
Ccdc28b	A	G	4: 129,620,615	V198A	probably benign	Het
Ces1b	G	T	8: 93,068,108	R288S	probably damaging	Het
Cfap100	T	G	6: 90,412,184	T198P	probably benign	Het
Clint1	T	C	11: 45,890,783	S227P	probably damaging	Het
Cntn5	C	A	9: 10,145,339	C122F	probably damaging	Het
Col3a1	A	G	1: 45,343,312		probably null	Het
Cyp4a10	A	C	4: 115,529,449	D431A	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,550,734		probably null	Het
Dlc1	A	T	8: 36,593,463		probably benign	Het
Dlgap2	T	C	8: 14,727,060	S102P	probably benign	Het
Dnah7b	G	A	1: 46,078,593		probably benign	Het
Dock10	A	C	1: 80,549,136	S1124A	probably benign	Het
Dscam	C	T	16: 96,819,951	R519H	probably damaging	Het
Efcab3	A	T	11: 105,108,755		probably benign	Het
Evi2a	G	T	11: 79,527,270	N171K	probably damaging	Het
Fbxl15	T	C	19: 46,330,245	L286P	probably damaging	Het
Fpr1	T	A	17: 17,877,263	I155F	probably benign	Het
Gcat	C	T	15: 79,033,994	A84V	probably null	Het
Gls	A	G	1: 52,191,134	F473L	possibly damaging	Het
Gnat1	T	C	9: 107,676,965	D169G	probably damaging	Het
Grm3	A	C	5: 9,589,958	M29R	probably benign	Het
Ibsp	G	A	5: 104,310,539	G314D	unknown	Het
Lgr6	C	A	1: 134,987,472	A513S	probably damaging	Het
Lrmp	C	T	6: 145,174,511	T484M	possibly damaging	Het
Lrriq4	T	A	3: 30,650,761	C313S	probably damaging	Het
March10	G	T	11: 105,390,583	T292K	probably damaging	Het
Mcoln2	C	A	3: 146,190,382	Y6*	probably null	Het
Mup4	A	G	4: 59,958,076	I164T	probably damaging	Het
Myo1b	T	C	1: 51,778,558		probably benign	Het
Ncam1	A	G	9: 49,544,800	I506T	probably damaging	Het
Notch1	A	T	2: 26,480,964		probably benign	Het
Nr4a3	A	T	4: 48,051,777	Q177L	probably benign	Het
Nsun4	A	G	4: 116,052,950	S138P	possibly damaging	Het
Olfr11	G	T	13: 21,639,390	N44K	probably benign	Het
Olfr403	A	G	11: 74,195,679	M59V	probably damaging	Het
Olfr716	A	T	7: 107,148,198	N294I	probably damaging	Het
Olfr729	T	C	14: 50,148,358	N172S	probably damaging	Het
Pagr1a	A	T	7: 127,016,297		probably benign	Het
Pcdhb2	A	T	18: 37,296,290	I82L	probably benign	Het
Pds5b	A	T	5: 150,754,417	N500I	probably damaging	Het
Pik3r6	A	T	11: 68,531,445	E223D	possibly damaging	Het
Pkhd1l1	A	T	15: 44,540,988		probably benign	Het
Prex1	T	C	2: 166,580,463	D1204G	probably damaging	Het
Prickle1	C	T	15: 93,505,074	E244K	possibly damaging	Het
Ptprd	A	T	4: 76,084,552	V211E	probably damaging	Het
Rad51d	G	A	11: 82,890,353	R23*	probably null	Het
Rapgef6	G	A	11: 54,626,708	G262R	probably damaging	Het
Reln	A	G	5: 22,128,602		probably benign	Het
Rev1	T	C	1: 38,088,205	T325A	probably damaging	Het
Rnd3	T	A	2: 51,132,506	I175L	probably benign	Het
Rp1	C	A	1: 4,347,396	L1164F	probably damaging	Het
S100a7a	T	C	3: 90,655,635	V43A	probably benign	Het
Scaper	A	C	9: 55,602,918	Y1104*	probably null	Het
Scn2a	T	A	2: 65,764,594	V1929D	probably benign	Het
Scn3a	T	C	2: 65,529,441	N141S	possibly damaging	Het
Slc12a7	T	G	13: 73,801,008	L718R	probably damaging	Het
Slc15a2	T	C	16: 36,784,643		probably benign	Het
Slc35b3	G	A	13: 38,954,134	Q100*	probably null	Het
Slc9a5	T	A	8: 105,355,153	V170E	possibly damaging	Het
Snx5	T	G	2: 144,254,811	K278T	possibly damaging	Het
Sorbs2	T	C	8: 45,789,963		probably benign	Het
Stab1	C	T	14: 31,151,690	W1008*	probably null	Het
Stab2	C	T	10: 86,861,367		probably null	Het
Tacc3	A	G	5: 33,667,977	E377G	probably benign	Het
Tango6	T	C	8: 106,689,039	L164P	probably damaging	Het
Tbc1d12	T	A	19: 38,914,352	S570T	possibly damaging	Het
Thbs1	T	C	2: 118,114,355	F217L	probably damaging	Het
Tmbim6	T	A	15: 99,402,123	V40E	probably damaging	Het
Tmigd1	A	T	11: 76,910,160	N158Y	probably damaging	Het
Top3b	C	T	16: 16,892,777	R824*	probably null	Het
Tram1l1	A	T	3: 124,321,931	K247*	probably null	Het
Tsc2	T	C	17: 24,614,392	Y686C	probably damaging	Het
Tsga10	T	C	1: 37,819,599	Q218R	probably damaging	Het
Uba6	G	T	5: 86,140,423	A439D	probably damaging	Het
Ubn1	C	A	16: 5,077,294	P735T	probably damaging	Het
Usp40	A	G	1: 87,982,086	S549P	probably benign	Het
Utp20	T	C	10: 88,819,339	T176A	probably benign	Het
Utp4	T	G	8: 106,898,053		probably benign	Het
Xpo5	C	T	17: 46,207,927		probably benign	Het
Zfp979	A	T	4: 147,614,036	I72K	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
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
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
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
R1866:Herc1	UTSW	9	66450791	missense	probably damaging	1.00
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	not run
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'- CGTTCACGAGGTGGACACAGTAAG -3'
(R):5'- ATCATAGTTAGGTCTCAGTTTGGCCCC -3'

Sequencing Primer
(F):5'- TCCAAGTGCTGCAAAGCTG -3'
(R):5'- GCCCCTTTGTCTGCCAATAATG -3'

Posted On

2014-03-14