Mutagenetix > Incidental Mutation

Incidental Mutation 'R3125:Htt'

264227

Institutional Source

Beutler Lab

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

Hdh, huntingtin, HD, IT15, htt, C430023I11Rik

MMRRC Submission

040598-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34919084-35069878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34961875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 287 (S287P)

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: S287P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: S287P

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: ENSMUST00000123755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156490

Meta Mutation Damage Score

0.0847

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	T	6: 116,404,098 (GRCm39)		probably null	Het
Aoc1l1	A	T	6: 48,952,305 (GRCm39)	I77F	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Cep135	T	C	5: 76,769,210 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,716,310 (GRCm39)	H385L	possibly damaging	Het
Dach2	T	C	X: 112,729,664 (GRCm39)	I417T	possibly damaging	Het
Dcaf8l	A	T	X: 88,448,327 (GRCm39)	Y601N	probably benign	Het
Dhx32	T	C	7: 133,327,085 (GRCm39)	Y332C	probably damaging	Het
Dlx1	T	A	2: 71,362,740 (GRCm39)	W216R	probably damaging	Het
Dna2	G	A	10: 62,784,981 (GRCm39)	A33T	possibly damaging	Het
Dyrk1a	G	A	16: 94,469,660 (GRCm39)		probably benign	Het
Fam227b	T	C	2: 125,966,006 (GRCm39)	T140A	probably benign	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Fign	T	A	2: 63,809,044 (GRCm39)	Q742L	possibly damaging	Het
Hip1r	A	G	5: 124,138,204 (GRCm39)	D766G	probably benign	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Icam5	A	G	9: 20,947,954 (GRCm39)	I617M	probably benign	Het
Ifi27l2b	T	C	12: 103,417,594 (GRCm39)	T198A	unknown	Het
Ip6k3	T	C	17: 27,376,516 (GRCm39)	Y65C	probably damaging	Het
Kif15	A	C	9: 122,817,026 (GRCm39)	Q542P	probably damaging	Het
Kit	G	T	5: 75,808,487 (GRCm39)	A744S	probably benign	Het
Kit	C	T	5: 75,808,488 (GRCm39)	A744V	probably null	Het
Lonp1	A	G	17: 56,933,488 (GRCm39)	I129T	possibly damaging	Het
Ltbp4	C	T	7: 27,027,203 (GRCm39)	R389Q	possibly damaging	Het
Map3k21	A	T	8: 126,668,593 (GRCm39)	K726N	probably benign	Het
Mcpt8	A	T	14: 56,321,398 (GRCm39)	I22K	probably damaging	Het
Npb	G	A	11: 120,499,728 (GRCm39)	V103I	possibly damaging	Het
Or13a22	T	C	7: 140,072,764 (GRCm39)	M71T	probably benign	Het
Or2y3	G	A	17: 38,392,903 (GRCm39)		probably null	Het
Plin2	G	T	4: 86,575,381 (GRCm39)	Y389*	probably null	Het
Pnpla6	G	T	8: 3,584,670 (GRCm39)	G763C	probably null	Het
Pnpla7	A	G	2: 24,932,150 (GRCm39)	D935G	probably damaging	Het
Prr29	A	G	11: 106,265,711 (GRCm39)	S10G	probably benign	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Serpina12	G	A	12: 104,004,242 (GRCm39)	T130I	probably benign	Het
Slc6a18	A	G	13: 73,825,921 (GRCm39)	F43S	probably damaging	Het
Stx6	C	T	1: 155,034,654 (GRCm39)	P6S	probably damaging	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Trpm2	T	A	10: 77,747,208 (GRCm39)	N1430I	probably damaging	Het
Trpm6	C	G	19: 18,831,795 (GRCm39)	H1553Q	probably benign	Het
Vav3	G	A	3: 109,535,484 (GRCm39)		probably null	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly 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
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
R4655:Htt	UTSW	5	35,063,476 (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'- ATCTGAGTGTGCACAGCCTG -3'
(R):5'- GCGGAAAGATGCTACTTCTTTC -3'

Sequencing Primer
(F):5'- ACAGCCTGTGTTTCTCAGTC -3'
(R):5'- GGAAAGATGCTACTTCTTTCATGTCC -3'

Posted On

2015-02-05