Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Htt'

352344

Institutional Source

Beutler Lab

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

Hdh, huntingtin, HD, IT15, htt, C430023I11Rik

MMRRC Submission

041915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34919084-35069878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35063476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2918 (D2918G)

Ref Sequence

ENSEMBL: ENSMUSP00000078945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080036]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080036
AA Change: D2918G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: D2918G

Domain	Start	End	E-Value	Type
low complexity region	18	65	N/A	INTRINSIC
SCOP:d1qgra_	92	370	1e-12	SMART
low complexity region	371	388	N/A	INTRINSIC
low complexity region	432	453	N/A	INTRINSIC
low complexity region	1150	1161	N/A	INTRINSIC
low complexity region	1423	1441	N/A	INTRINSIC
Pfam:DUF3652	1494	1534	9.3e-20	PFAM
low complexity region	1812	1822	N/A	INTRINSIC
Blast:GAF	1866	2040	1e-104	BLAST
low complexity region	2461	2472	N/A	INTRINSIC
low complexity region	2611	2621	N/A	INTRINSIC
low complexity region	2622	2635	N/A	INTRINSIC
low complexity region	2857	2872	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201636

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
PHENOTYPE: Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	probably damaging	Het

Other mutations in Htt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Htt	APN	5	34,956,752 (GRCm39)	missense	probably benign	0.00
IGL00233:Htt	APN	5	35,053,370 (GRCm39)	splice site	probably null
IGL00559:Htt	APN	5	35,006,448 (GRCm39)	splice site	probably benign
IGL00765:Htt	APN	5	35,034,769 (GRCm39)	splice site	probably benign
IGL00950:Htt	APN	5	35,048,785 (GRCm39)	missense	probably benign
IGL00953:Htt	APN	5	34,976,021 (GRCm39)	missense	probably benign	0.04
IGL00957:Htt	APN	5	34,964,068 (GRCm39)	missense	probably benign
IGL01314:Htt	APN	5	35,036,200 (GRCm39)	missense	probably benign
IGL01412:Htt	APN	5	35,055,916 (GRCm39)	missense	probably damaging	0.98
IGL01510:Htt	APN	5	35,064,856 (GRCm39)	missense	probably damaging	1.00
IGL01617:Htt	APN	5	35,034,099 (GRCm39)	missense	possibly damaging	0.67
IGL01893:Htt	APN	5	35,034,174 (GRCm39)	missense	probably damaging	1.00
IGL01914:Htt	APN	5	34,987,053 (GRCm39)	missense	probably benign
IGL01994:Htt	APN	5	34,989,948 (GRCm39)	missense	possibly damaging	0.83
IGL02102:Htt	APN	5	35,048,825 (GRCm39)	splice site	probably benign
IGL02381:Htt	APN	5	34,987,104 (GRCm39)	missense	probably benign	0.03
IGL02529:Htt	APN	5	34,976,387 (GRCm39)	splice site	probably benign
IGL02678:Htt	APN	5	35,057,246 (GRCm39)	missense	probably damaging	1.00
IGL02707:Htt	APN	5	34,987,225 (GRCm39)	critical splice donor site	probably null
IGL02731:Htt	APN	5	34,961,137 (GRCm39)	missense	probably benign	0.41
IGL02931:Htt	APN	5	35,034,097 (GRCm39)	missense	probably damaging	1.00
IGL03167:Htt	APN	5	34,976,330 (GRCm39)	missense	probably damaging	0.98
IGL03343:Htt	APN	5	34,983,385 (GRCm39)	missense	probably benign
IGL03344:Htt	APN	5	35,037,172 (GRCm39)	missense	probably benign	0.39
IGL03344:Htt	APN	5	35,064,810 (GRCm39)	missense	probably benign	0.02
IGL03366:Htt	APN	5	35,064,924 (GRCm39)	missense	probably damaging	1.00
IGL03410:Htt	APN	5	34,956,789 (GRCm39)	missense	probably damaging	0.99
Chalk	UTSW	5	35,064,430 (GRCm39)	missense	possibly damaging	0.86
IGL02796:Htt	UTSW	5	35,034,826 (GRCm39)	missense	probably benign	0.43
PIT4377001:Htt	UTSW	5	35,033,309 (GRCm39)	missense	probably benign	0.10
R0013:Htt	UTSW	5	34,977,448 (GRCm39)	missense	probably benign	0.25
R0049:Htt	UTSW	5	35,066,006 (GRCm39)	missense	probably damaging	0.97
R0049:Htt	UTSW	5	35,066,006 (GRCm39)	missense	probably damaging	0.97
R0056:Htt	UTSW	5	34,983,422 (GRCm39)	splice site	probably benign
R0207:Htt	UTSW	5	35,054,252 (GRCm39)	missense	probably benign	0.11
R0329:Htt	UTSW	5	34,974,478 (GRCm39)	splice site	probably benign
R0494:Htt	UTSW	5	34,979,188 (GRCm39)	missense	possibly damaging	0.73
R0548:Htt	UTSW	5	35,028,090 (GRCm39)	missense	probably damaging	1.00
R0601:Htt	UTSW	5	35,003,347 (GRCm39)	missense	probably benign	0.08
R0799:Htt	UTSW	5	34,975,097 (GRCm39)	missense	probably benign	0.00
R0947:Htt	UTSW	5	35,056,268 (GRCm39)	missense	probably damaging	1.00
R1053:Htt	UTSW	5	35,008,561 (GRCm39)	critical splice acceptor site	probably null
R1147:Htt	UTSW	5	35,008,596 (GRCm39)	missense	probably damaging	0.98
R1147:Htt	UTSW	5	35,008,596 (GRCm39)	missense	probably damaging	0.98
R1478:Htt	UTSW	5	34,961,171 (GRCm39)	missense	probably damaging	0.99
R1573:Htt	UTSW	5	35,021,718 (GRCm39)	splice site	probably benign
R1677:Htt	UTSW	5	34,985,918 (GRCm39)	missense	probably damaging	1.00
R1792:Htt	UTSW	5	35,064,543 (GRCm39)	missense	probably damaging	1.00
R1816:Htt	UTSW	5	34,961,084 (GRCm39)	missense	probably benign	0.01
R1833:Htt	UTSW	5	35,063,092 (GRCm39)	splice site	probably benign
R1837:Htt	UTSW	5	34,976,367 (GRCm39)	missense	probably benign	0.00
R1846:Htt	UTSW	5	35,006,288 (GRCm39)	missense	probably damaging	0.98
R1875:Htt	UTSW	5	34,951,456 (GRCm39)	missense	probably benign	0.05
R1899:Htt	UTSW	5	35,064,429 (GRCm39)	missense	probably benign	0.01
R2013:Htt	UTSW	5	35,010,215 (GRCm39)	missense	probably damaging	0.99
R2062:Htt	UTSW	5	34,983,326 (GRCm39)	missense	probably benign	0.00
R2064:Htt	UTSW	5	34,983,326 (GRCm39)	missense	probably benign	0.00
R2067:Htt	UTSW	5	34,983,326 (GRCm39)	missense	probably benign	0.00
R2068:Htt	UTSW	5	34,983,326 (GRCm39)	missense	probably benign	0.00
R2131:Htt	UTSW	5	35,034,453 (GRCm39)	missense	possibly damaging	0.50
R2162:Htt	UTSW	5	34,979,062 (GRCm39)	missense	probably benign	0.44
R2169:Htt	UTSW	5	35,034,819 (GRCm39)	missense	probably benign	0.08
R2345:Htt	UTSW	5	34,983,348 (GRCm39)	missense	possibly damaging	0.80
R2433:Htt	UTSW	5	35,064,885 (GRCm39)	missense	possibly damaging	0.65
R3027:Htt	UTSW	5	34,977,439 (GRCm39)	missense	possibly damaging	0.85
R3123:Htt	UTSW	5	34,961,875 (GRCm39)	missense	probably benign
R3125:Htt	UTSW	5	34,961,875 (GRCm39)	missense	probably benign
R3717:Htt	UTSW	5	34,968,866 (GRCm39)	splice site	probably benign
R3758:Htt	UTSW	5	35,053,314 (GRCm39)	missense	probably damaging	0.97
R3805:Htt	UTSW	5	35,034,548 (GRCm39)	splice site	probably null
R3833:Htt	UTSW	5	34,979,062 (GRCm39)	missense	probably benign	0.44
R4066:Htt	UTSW	5	35,036,191 (GRCm39)	missense	probably benign
R4272:Htt	UTSW	5	35,006,413 (GRCm39)	missense	possibly damaging	0.96
R4625:Htt	UTSW	5	34,987,129 (GRCm39)	missense	probably damaging	0.99
R4634:Htt	UTSW	5	35,033,292 (GRCm39)	missense	probably benign	0.06
R4679:Htt	UTSW	5	34,977,424 (GRCm39)	missense	probably benign
R4684:Htt	UTSW	5	35,010,109 (GRCm39)	missense	probably damaging	1.00
R4832:Htt	UTSW	5	34,982,184 (GRCm39)	missense	probably benign	0.01
R4833:Htt	UTSW	5	35,009,569 (GRCm39)	missense	probably damaging	0.98
R4973:Htt	UTSW	5	34,970,367 (GRCm39)	missense	probably damaging	0.99
R5095:Htt	UTSW	5	34,981,739 (GRCm39)	missense	possibly damaging	0.89
R5132:Htt	UTSW	5	35,063,023 (GRCm39)	missense	possibly damaging	0.89
R5351:Htt	UTSW	5	34,961,177 (GRCm39)	missense	probably damaging	0.99
R5361:Htt	UTSW	5	35,064,928 (GRCm39)	missense	possibly damaging	0.47
R5399:Htt	UTSW	5	35,034,495 (GRCm39)	missense	probably damaging	0.98
R5462:Htt	UTSW	5	35,042,851 (GRCm39)	nonsense	probably null
R5552:Htt	UTSW	5	34,979,118 (GRCm39)	missense	probably benign
R5566:Htt	UTSW	5	35,006,419 (GRCm39)	missense	probably damaging	1.00
R5595:Htt	UTSW	5	35,062,741 (GRCm39)	missense	probably damaging	0.96
R5617:Htt	UTSW	5	35,028,150 (GRCm39)	missense	possibly damaging	0.77
R5835:Htt	UTSW	5	34,970,534 (GRCm39)	missense	probably benign	0.16
R5891:Htt	UTSW	5	35,028,167 (GRCm39)	missense	possibly damaging	0.62
R6158:Htt	UTSW	5	35,064,430 (GRCm39)	missense	possibly damaging	0.86
R6159:Htt	UTSW	5	34,962,020 (GRCm39)	missense	probably benign	0.08
R6169:Htt	UTSW	5	35,064,817 (GRCm39)	missense	probably damaging	1.00
R6242:Htt	UTSW	5	35,003,356 (GRCm39)	missense	probably damaging	1.00
R6274:Htt	UTSW	5	35,009,431 (GRCm39)	missense	possibly damaging	0.81
R6280:Htt	UTSW	5	35,028,103 (GRCm39)	missense	probably benign	0.00
R6294:Htt	UTSW	5	34,979,170 (GRCm39)	missense	probably benign
R6331:Htt	UTSW	5	35,053,231 (GRCm39)	missense	possibly damaging	0.89
R6448:Htt	UTSW	5	35,033,336 (GRCm39)	missense	probably benign	0.05
R6474:Htt	UTSW	5	34,982,239 (GRCm39)	missense	probably benign	0.06
R6592:Htt	UTSW	5	35,034,388 (GRCm39)	missense	possibly damaging	0.92
R6818:Htt	UTSW	5	34,940,111 (GRCm39)	missense	probably damaging	0.99
R6830:Htt	UTSW	5	34,991,670 (GRCm39)	missense	possibly damaging	0.82
R6920:Htt	UTSW	5	35,034,444 (GRCm39)	missense	probably null	1.00
R6962:Htt	UTSW	5	35,057,115 (GRCm39)	critical splice acceptor site	probably null
R7057:Htt	UTSW	5	34,979,067 (GRCm39)	missense	probably null	0.05
R7144:Htt	UTSW	5	35,003,350 (GRCm39)	missense	probably damaging	1.00
R7166:Htt	UTSW	5	35,010,238 (GRCm39)	missense	probably benign	0.42
R7329:Htt	UTSW	5	34,987,099 (GRCm39)	missense	probably benign	0.03
R7378:Htt	UTSW	5	34,961,143 (GRCm39)	missense	probably benign	0.04
R7418:Htt	UTSW	5	34,947,697 (GRCm39)	missense	possibly damaging	0.55
R7495:Htt	UTSW	5	34,968,821 (GRCm39)	missense	probably benign	0.00
R7554:Htt	UTSW	5	35,022,084 (GRCm39)	missense	probably damaging	0.97
R7575:Htt	UTSW	5	35,062,987 (GRCm39)	missense	probably damaging	1.00
R7763:Htt	UTSW	5	35,009,534 (GRCm39)	missense	probably damaging	1.00
R7782:Htt	UTSW	5	35,040,336 (GRCm39)	missense	probably benign	0.03
R7850:Htt	UTSW	5	35,009,631 (GRCm39)	splice site	probably null
R7870:Htt	UTSW	5	35,055,891 (GRCm39)	missense	possibly damaging	0.77
R7871:Htt	UTSW	5	35,021,993 (GRCm39)	missense	probably benign	0.00
R7879:Htt	UTSW	5	34,981,252 (GRCm39)	missense	probably benign
R7992:Htt	UTSW	5	34,987,225 (GRCm39)	critical splice donor site	probably null
R8058:Htt	UTSW	5	34,977,444 (GRCm39)	missense	probably benign
R8168:Htt	UTSW	5	35,040,300 (GRCm39)	missense	probably benign	0.00
R8188:Htt	UTSW	5	34,919,287 (GRCm39)	missense	probably benign	0.03
R8262:Htt	UTSW	5	35,053,304 (GRCm39)	missense	probably benign
R8343:Htt	UTSW	5	35,063,068 (GRCm39)	missense	probably damaging	1.00
R8353:Htt	UTSW	5	35,034,499 (GRCm39)	missense	possibly damaging	0.49
R8769:Htt	UTSW	5	34,977,633 (GRCm39)	missense	probably benign	0.05
R8808:Htt	UTSW	5	35,046,791 (GRCm39)	missense	probably benign	0.10
R8825:Htt	UTSW	5	34,983,304 (GRCm39)	missense	probably benign	0.24
R8843:Htt	UTSW	5	35,046,809 (GRCm39)	missense	possibly damaging	0.92
R8856:Htt	UTSW	5	35,060,675 (GRCm39)	missense	probably benign	0.44
R8882:Htt	UTSW	5	34,979,061 (GRCm39)	missense	probably benign
R8898:Htt	UTSW	5	34,976,376 (GRCm39)	missense	probably benign	0.01
R8964:Htt	UTSW	5	35,062,720 (GRCm39)	missense	probably benign	0.09
R8987:Htt	UTSW	5	34,977,368 (GRCm39)	missense	probably benign	0.18
R8991:Htt	UTSW	5	35,063,062 (GRCm39)	missense	probably damaging	1.00
R9005:Htt	UTSW	5	34,975,095 (GRCm39)	missense	possibly damaging	0.92
R9019:Htt	UTSW	5	35,023,920 (GRCm39)	missense	probably damaging	1.00
R9057:Htt	UTSW	5	35,009,454 (GRCm39)	missense	possibly damaging	0.86
R9157:Htt	UTSW	5	34,987,171 (GRCm39)	missense	probably null	0.89
R9205:Htt	UTSW	5	34,976,367 (GRCm39)	missense	probably benign	0.00
R9223:Htt	UTSW	5	35,062,692 (GRCm39)	missense	probably benign	0.01
R9243:Htt	UTSW	5	35,056,276 (GRCm39)	splice site	probably benign
R9329:Htt	UTSW	5	34,989,957 (GRCm39)	missense	possibly damaging	0.69
R9355:Htt	UTSW	5	35,053,247 (GRCm39)	missense	probably benign
R9402:Htt	UTSW	5	35,006,324 (GRCm39)	missense	probably damaging	1.00
R9446:Htt	UTSW	5	34,919,272 (GRCm39)	missense	probably benign
R9716:Htt	UTSW	5	35,012,019 (GRCm39)	missense	probably damaging	1.00
Z1177:Htt	UTSW	5	35,009,575 (GRCm39)	missense	probably null	0.87

Predicted Primers

PCR Primer
(F):5'- TGCCTTGCTAGGGACTGTAATC -3'
(R):5'- CTCTGTGAATATGCATGCACTGG -3'

Sequencing Primer
(F):5'- GCTAGGGACTGTAATCACCTG -3'
(R):5'- CATGCACTGGAAAAATGGCTGC -3'

Posted On

2015-10-08