Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03343:Htt'

417324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

Hdh, huntingtin, HD, IT15, htt, C430023I11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03343

Quality Score

Status

Chromosome

Chromosomal Location

34919084-35069878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34983385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 995 (I995V)

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: I995V

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

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: I995V

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: ENSMUST00000148953

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,725,064 (GRCm39)	H795R	probably damaging	Het
Adgrl2	A	T	3: 148,565,016 (GRCm39)	I188K	probably damaging	Het
Adgrv1	A	G	13: 81,431,507 (GRCm39)	Y5974H	probably damaging	Het
Angpt4	A	G	2: 151,778,623 (GRCm39)	T336A	probably damaging	Het
Arhgap30	C	A	1: 171,236,662 (GRCm39)	T1012N	probably damaging	Het
Asl	A	T	5: 130,040,908 (GRCm39)	Y178N	probably damaging	Het
Brd1	C	A	15: 88,591,454 (GRCm39)	L714F	possibly damaging	Het
Ccdc47	A	G	11: 106,095,788 (GRCm39)	S303P	probably damaging	Het
Cdcp3	T	A	7: 130,848,420 (GRCm39)	I858N	probably damaging	Het
Cdk16	A	G	X: 20,561,998 (GRCm39)	K264E	probably damaging	Het
Cenpc1	A	T	5: 86,164,181 (GRCm39)	F813L	probably damaging	Het
Cfp	A	C	X: 20,794,248 (GRCm39)	F291C	possibly damaging	Het
Chordc1	T	G	9: 18,223,762 (GRCm39)	F276V	probably damaging	Het
Clic4	C	T	4: 134,945,889 (GRCm39)	R176H	possibly damaging	Het
Fcer1a	T	G	1: 173,053,040 (GRCm39)	N52T	possibly damaging	Het
Fndc7	A	T	3: 108,774,624 (GRCm39)	C545S	probably damaging	Het
Frem2	T	C	3: 53,559,674 (GRCm39)	D1611G	probably damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Gga3	A	T	11: 115,483,312 (GRCm39)	N82K	probably damaging	Het
Gm43638	G	A	5: 87,608,484 (GRCm39)	P452S	possibly damaging	Het
Gpn1	T	C	5: 31,662,309 (GRCm39)	S244P	probably damaging	Het
Hspa12a	T	C	19: 58,787,828 (GRCm39)	S665G	probably benign	Het
Iars1	A	T	13: 49,878,223 (GRCm39)	I916L	probably benign	Het
Ice1	C	A	13: 70,751,048 (GRCm39)	L1679F	probably damaging	Het
Inpp1	A	T	1: 52,838,486 (GRCm39)	D54E	probably damaging	Het
Irf2bpl	T	C	12: 86,929,713 (GRCm39)	E320G	possibly damaging	Het
Itprid1	T	G	6: 55,945,569 (GRCm39)	D763E	probably damaging	Het
Kcnn2	T	C	18: 45,810,026 (GRCm39)	V421A	probably damaging	Het
Micu2	A	G	14: 58,154,768 (GRCm39)	V419A	probably benign	Het
Nek9	C	T	12: 85,350,383 (GRCm39)	C897Y	probably damaging	Het
Ofcc1	A	C	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Or12d17	G	A	17: 37,777,300 (GRCm39)	D68N	probably damaging	Het
Or2y16	C	A	11: 49,335,070 (GRCm39)	H131N	probably damaging	Het
Or5m12	T	C	2: 85,735,285 (GRCm39)	T38A	probably benign	Het
Or6c69c	T	G	10: 129,911,125 (GRCm39)	L282R	probably damaging	Het
Pakap	C	T	4: 57,688,502 (GRCm39)	T115M	probably damaging	Het
Papss1	G	A	3: 131,288,950 (GRCm39)	G151S	probably benign	Het
Plxnb1	A	G	9: 108,943,780 (GRCm39)	T1956A	probably damaging	Het
Pomt1	A	G	2: 32,143,724 (GRCm39)		probably benign	Het
Ppfibp2	T	A	7: 107,337,126 (GRCm39)	Y570*	probably null	Het
Ppp1r9a	A	G	6: 5,046,015 (GRCm39)	E493G	probably damaging	Het
Ptk2b	A	G	14: 66,406,870 (GRCm39)	F621L	probably benign	Het
Ptpn13	G	T	5: 103,702,816 (GRCm39)	D1261Y	possibly damaging	Het
Ptprd	C	T	4: 75,977,966 (GRCm39)	G181D	probably damaging	Het
Rabgap1l	T	C	1: 160,270,853 (GRCm39)	T645A	probably benign	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Smc3	A	G	19: 53,602,273 (GRCm39)	N40S	probably damaging	Het
Spata31	A	T	13: 65,067,587 (GRCm39)	D83V	probably benign	Het
Sptb	C	T	12: 76,630,330 (GRCm39)		probably benign	Het
Ssc4d	A	T	5: 135,990,028 (GRCm39)	C493*	probably null	Het
Styxl2	T	C	1: 165,927,017 (GRCm39)	D865G	probably benign	Het
Ubr2	C	A	17: 47,262,844 (GRCm39)	V1256L	probably benign	Het
Ubr3	T	C	2: 69,803,490 (GRCm39)		probably benign	Het
Vmn2r105	C	T	17: 20,446,631 (GRCm39)	W456*	probably null	Het
Vmn2r24	T	A	6: 123,793,070 (GRCm39)	I799N	probably damaging	Het
Vps13b	G	A	15: 35,917,316 (GRCm39)	G3720D	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
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
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

Posted On

2016-08-02