Mutagenetix > Incidental Mutation

Incidental Mutation 'R2345:Htt'

245978

Institutional Source

Beutler Lab

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

HD, Hdh, htt, huntingtin, IT15

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34761740-34912534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34826004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 982 (N982K)

Ref Sequence

ENSEMBL: ENSMUSP00000078945 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080036
AA Change: N982K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: N982K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (30/30)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn3	A	T	12: 101,948,321 (GRCm38)	M48K	probably damaging	Het
Bnc2	T	C	4: 84,292,503 (GRCm38)	E638G	probably damaging	Het
Cdh15	G	A	8: 122,856,635 (GRCm38)	R59H	probably benign	Het
Ceacam3	T	G	7: 17,155,000 (GRCm38)	D231E	possibly damaging	Het
Ckb	G	A	12: 111,671,804 (GRCm38)	T52I	probably damaging	Het
Elac2	T	C	11: 65,001,074 (GRCm38)	M773T	probably damaging	Het
Fbxw8	A	T	5: 118,065,807 (GRCm38)		probably benign	Het
Hk3	T	C	13: 55,008,993 (GRCm38)	D582G	probably damaging	Het
Jag2	T	C	12: 112,909,064 (GRCm38)	E1190G	probably damaging	Het
Kcnc1	A	G	7: 46,397,946 (GRCm38)	E90G	probably damaging	Het
Kynu	A	C	2: 43,581,385 (GRCm38)	Y71S	probably damaging	Het
Lonrf1	A	T	8: 36,222,862 (GRCm38)		probably null	Het
Mfsd4b3-ps	T	A	10: 39,948,073 (GRCm38)	M64L	probably benign	Het
Nbea	A	T	3: 56,085,279 (GRCm38)	F302Y	probably damaging	Het
Ndst4	T	C	3: 125,708,120 (GRCm38)	S111P	possibly damaging	Het
Nsf	C	T	11: 103,930,752 (GRCm38)	E26K	possibly damaging	Het
Or1f19	G	A	16: 3,593,139 (GRCm38)	V248M	probably damaging	Het
Or5m8	A	G	2: 85,991,822 (GRCm38)	T2A	probably benign	Het
Or8b57	T	G	9: 40,092,553 (GRCm38)	I138L	probably benign	Het
Phf3	G	T	1: 30,805,351 (GRCm38)	S1509*	probably null	Het
Plekhh1	A	T	12: 79,053,647 (GRCm38)	I130F	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Szt2	A	G	4: 118,381,397 (GRCm38)	F1953S	unknown	Het
Togaram1	T	A	12: 65,008,632 (GRCm38)	S1466T	probably benign	Het
Tox2	T	C	2: 163,319,598 (GRCm38)	Y348H	probably damaging	Het
Vmn2r129	T	A	4: 156,337,039 (GRCm38)		noncoding transcript	Het
Wdr90	G	T	17: 25,859,162 (GRCm38)	H411N	probably benign	Het
Yme1l1	C	T	2: 23,194,786 (GRCm38)	T632I	probably damaging	Het

Other mutations in Htt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Htt	APN	5	34,799,408 (GRCm38)	missense	probably benign	0.00
IGL00233:Htt	APN	5	34,896,026 (GRCm38)	splice site	probably null
IGL00559:Htt	APN	5	34,849,104 (GRCm38)	splice site	probably benign
IGL00765:Htt	APN	5	34,877,425 (GRCm38)	splice site	probably benign
IGL00950:Htt	APN	5	34,891,441 (GRCm38)	missense	probably benign
IGL00953:Htt	APN	5	34,818,677 (GRCm38)	missense	probably benign	0.04
IGL00957:Htt	APN	5	34,806,724 (GRCm38)	missense	probably benign
IGL01314:Htt	APN	5	34,878,856 (GRCm38)	missense	probably benign
IGL01412:Htt	APN	5	34,898,572 (GRCm38)	missense	probably damaging	0.98
IGL01510:Htt	APN	5	34,907,512 (GRCm38)	missense	probably damaging	1.00
IGL01617:Htt	APN	5	34,876,755 (GRCm38)	missense	possibly damaging	0.67
IGL01893:Htt	APN	5	34,876,830 (GRCm38)	missense	probably damaging	1.00
IGL01914:Htt	APN	5	34,829,709 (GRCm38)	missense	probably benign
IGL01994:Htt	APN	5	34,832,604 (GRCm38)	missense	possibly damaging	0.83
IGL02102:Htt	APN	5	34,891,481 (GRCm38)	splice site	probably benign
IGL02381:Htt	APN	5	34,829,760 (GRCm38)	missense	probably benign	0.03
IGL02529:Htt	APN	5	34,819,043 (GRCm38)	splice site	probably benign
IGL02678:Htt	APN	5	34,899,902 (GRCm38)	missense	probably damaging	1.00
IGL02707:Htt	APN	5	34,829,881 (GRCm38)	critical splice donor site	probably null
IGL02731:Htt	APN	5	34,803,793 (GRCm38)	missense	probably benign	0.41
IGL02931:Htt	APN	5	34,876,753 (GRCm38)	missense	probably damaging	1.00
IGL03167:Htt	APN	5	34,818,986 (GRCm38)	missense	probably damaging	0.98
IGL03343:Htt	APN	5	34,826,041 (GRCm38)	missense	probably benign
IGL03344:Htt	APN	5	34,879,828 (GRCm38)	missense	probably benign	0.39
IGL03344:Htt	APN	5	34,907,466 (GRCm38)	missense	probably benign	0.02
IGL03366:Htt	APN	5	34,907,580 (GRCm38)	missense	probably damaging	1.00
IGL03410:Htt	APN	5	34,799,445 (GRCm38)	missense	probably damaging	0.99
Chalk	UTSW	5	34,907,086 (GRCm38)	missense	possibly damaging	0.86
IGL02796:Htt	UTSW	5	34,877,482 (GRCm38)	missense	probably benign	0.43
PIT4377001:Htt	UTSW	5	34,875,965 (GRCm38)	missense	probably benign	0.10
R0013:Htt	UTSW	5	34,820,104 (GRCm38)	missense	probably benign	0.25
R0049:Htt	UTSW	5	34,908,662 (GRCm38)	missense	probably damaging	0.97
R0049:Htt	UTSW	5	34,908,662 (GRCm38)	missense	probably damaging	0.97
R0056:Htt	UTSW	5	34,826,078 (GRCm38)	splice site	probably benign
R0207:Htt	UTSW	5	34,896,908 (GRCm38)	missense	probably benign	0.11
R0329:Htt	UTSW	5	34,817,134 (GRCm38)	splice site	probably benign
R0494:Htt	UTSW	5	34,821,844 (GRCm38)	missense	possibly damaging	0.73
R0548:Htt	UTSW	5	34,870,746 (GRCm38)	missense	probably damaging	1.00
R0601:Htt	UTSW	5	34,846,003 (GRCm38)	missense	probably benign	0.08
R0799:Htt	UTSW	5	34,817,753 (GRCm38)	missense	probably benign	0.00
R0947:Htt	UTSW	5	34,898,924 (GRCm38)	missense	probably damaging	1.00
R1053:Htt	UTSW	5	34,851,217 (GRCm38)	critical splice acceptor site	probably null
R1147:Htt	UTSW	5	34,851,252 (GRCm38)	missense	probably damaging	0.98
R1147:Htt	UTSW	5	34,851,252 (GRCm38)	missense	probably damaging	0.98
R1478:Htt	UTSW	5	34,803,827 (GRCm38)	missense	probably damaging	0.99
R1573:Htt	UTSW	5	34,864,374 (GRCm38)	splice site	probably benign
R1677:Htt	UTSW	5	34,828,574 (GRCm38)	missense	probably damaging	1.00
R1792:Htt	UTSW	5	34,907,199 (GRCm38)	missense	probably damaging	1.00
R1816:Htt	UTSW	5	34,803,740 (GRCm38)	missense	probably benign	0.01
R1833:Htt	UTSW	5	34,905,748 (GRCm38)	splice site	probably benign
R1837:Htt	UTSW	5	34,819,023 (GRCm38)	missense	probably benign	0.00
R1846:Htt	UTSW	5	34,848,944 (GRCm38)	missense	probably damaging	0.98
R1875:Htt	UTSW	5	34,794,112 (GRCm38)	missense	probably benign	0.05
R1899:Htt	UTSW	5	34,907,085 (GRCm38)	missense	probably benign	0.01
R2013:Htt	UTSW	5	34,852,871 (GRCm38)	missense	probably damaging	0.99
R2062:Htt	UTSW	5	34,825,982 (GRCm38)	missense	probably benign	0.00
R2064:Htt	UTSW	5	34,825,982 (GRCm38)	missense	probably benign	0.00
R2067:Htt	UTSW	5	34,825,982 (GRCm38)	missense	probably benign	0.00
R2068:Htt	UTSW	5	34,825,982 (GRCm38)	missense	probably benign	0.00
R2131:Htt	UTSW	5	34,877,109 (GRCm38)	missense	possibly damaging	0.50
R2162:Htt	UTSW	5	34,821,718 (GRCm38)	missense	probably benign	0.44
R2169:Htt	UTSW	5	34,877,475 (GRCm38)	missense	probably benign	0.08
R2433:Htt	UTSW	5	34,907,541 (GRCm38)	missense	possibly damaging	0.65
R3027:Htt	UTSW	5	34,820,095 (GRCm38)	missense	possibly damaging	0.85
R3123:Htt	UTSW	5	34,804,531 (GRCm38)	missense	probably benign
R3125:Htt	UTSW	5	34,804,531 (GRCm38)	missense	probably benign
R3717:Htt	UTSW	5	34,811,522 (GRCm38)	splice site	probably benign
R3758:Htt	UTSW	5	34,895,970 (GRCm38)	missense	probably damaging	0.97
R3805:Htt	UTSW	5	34,877,204 (GRCm38)	splice site	probably null
R3833:Htt	UTSW	5	34,821,718 (GRCm38)	missense	probably benign	0.44
R4066:Htt	UTSW	5	34,878,847 (GRCm38)	missense	probably benign
R4272:Htt	UTSW	5	34,849,069 (GRCm38)	missense	possibly damaging	0.96
R4625:Htt	UTSW	5	34,829,785 (GRCm38)	missense	probably damaging	0.99
R4634:Htt	UTSW	5	34,875,948 (GRCm38)	missense	probably benign	0.06
R4655:Htt	UTSW	5	34,906,132 (GRCm38)	missense	probably benign	0.06
R4679:Htt	UTSW	5	34,820,080 (GRCm38)	missense	probably benign
R4684:Htt	UTSW	5	34,852,765 (GRCm38)	missense	probably damaging	1.00
R4832:Htt	UTSW	5	34,824,840 (GRCm38)	missense	probably benign	0.01
R4833:Htt	UTSW	5	34,852,225 (GRCm38)	missense	probably damaging	0.98
R4973:Htt	UTSW	5	34,813,023 (GRCm38)	missense	probably damaging	0.99
R5095:Htt	UTSW	5	34,824,395 (GRCm38)	missense	possibly damaging	0.89
R5132:Htt	UTSW	5	34,905,679 (GRCm38)	missense	possibly damaging	0.89
R5351:Htt	UTSW	5	34,803,833 (GRCm38)	missense	probably damaging	0.99
R5361:Htt	UTSW	5	34,907,584 (GRCm38)	missense	possibly damaging	0.47
R5399:Htt	UTSW	5	34,877,151 (GRCm38)	missense	probably damaging	0.98
R5462:Htt	UTSW	5	34,885,507 (GRCm38)	nonsense	probably null
R5552:Htt	UTSW	5	34,821,774 (GRCm38)	missense	probably benign
R5566:Htt	UTSW	5	34,849,075 (GRCm38)	missense	probably damaging	1.00
R5595:Htt	UTSW	5	34,905,397 (GRCm38)	missense	probably damaging	0.96
R5617:Htt	UTSW	5	34,870,806 (GRCm38)	missense	possibly damaging	0.77
R5835:Htt	UTSW	5	34,813,190 (GRCm38)	missense	probably benign	0.16
R5891:Htt	UTSW	5	34,870,823 (GRCm38)	missense	possibly damaging	0.62
R6158:Htt	UTSW	5	34,907,086 (GRCm38)	missense	possibly damaging	0.86
R6159:Htt	UTSW	5	34,804,676 (GRCm38)	missense	probably benign	0.08
R6169:Htt	UTSW	5	34,907,473 (GRCm38)	missense	probably damaging	1.00
R6242:Htt	UTSW	5	34,846,012 (GRCm38)	missense	probably damaging	1.00
R6274:Htt	UTSW	5	34,852,087 (GRCm38)	missense	possibly damaging	0.81
R6280:Htt	UTSW	5	34,870,759 (GRCm38)	missense	probably benign	0.00
R6294:Htt	UTSW	5	34,821,826 (GRCm38)	missense	probably benign
R6331:Htt	UTSW	5	34,895,887 (GRCm38)	missense	possibly damaging	0.89
R6448:Htt	UTSW	5	34,875,992 (GRCm38)	missense	probably benign	0.05
R6474:Htt	UTSW	5	34,824,895 (GRCm38)	missense	probably benign	0.06
R6592:Htt	UTSW	5	34,877,044 (GRCm38)	missense	possibly damaging	0.92
R6818:Htt	UTSW	5	34,782,767 (GRCm38)	missense	probably damaging	0.99
R6830:Htt	UTSW	5	34,834,326 (GRCm38)	missense	possibly damaging	0.82
R6920:Htt	UTSW	5	34,877,100 (GRCm38)	missense	probably null	1.00
R6962:Htt	UTSW	5	34,899,771 (GRCm38)	critical splice acceptor site	probably null
R7057:Htt	UTSW	5	34,821,723 (GRCm38)	missense	probably null	0.05
R7144:Htt	UTSW	5	34,846,006 (GRCm38)	missense	probably damaging	1.00
R7166:Htt	UTSW	5	34,852,894 (GRCm38)	missense	probably benign	0.42
R7329:Htt	UTSW	5	34,829,755 (GRCm38)	missense	probably benign	0.03
R7378:Htt	UTSW	5	34,803,799 (GRCm38)	missense	probably benign	0.04
R7418:Htt	UTSW	5	34,790,353 (GRCm38)	missense	possibly damaging	0.55
R7495:Htt	UTSW	5	34,811,477 (GRCm38)	missense	probably benign	0.00
R7554:Htt	UTSW	5	34,864,740 (GRCm38)	missense	probably damaging	0.97
R7575:Htt	UTSW	5	34,905,643 (GRCm38)	missense	probably damaging	1.00
R7763:Htt	UTSW	5	34,852,190 (GRCm38)	missense	probably damaging	1.00
R7782:Htt	UTSW	5	34,882,992 (GRCm38)	missense	probably benign	0.03
R7850:Htt	UTSW	5	34,852,287 (GRCm38)	splice site	probably null
R7870:Htt	UTSW	5	34,898,547 (GRCm38)	missense	possibly damaging	0.77
R7871:Htt	UTSW	5	34,864,649 (GRCm38)	missense	probably benign	0.00
R7879:Htt	UTSW	5	34,823,908 (GRCm38)	missense	probably benign
R7992:Htt	UTSW	5	34,829,881 (GRCm38)	critical splice donor site	probably null
R8058:Htt	UTSW	5	34,820,100 (GRCm38)	missense	probably benign
R8168:Htt	UTSW	5	34,882,956 (GRCm38)	missense	probably benign	0.00
R8188:Htt	UTSW	5	34,761,943 (GRCm38)	missense	probably benign	0.03
R8262:Htt	UTSW	5	34,895,960 (GRCm38)	missense	probably benign
R8343:Htt	UTSW	5	34,905,724 (GRCm38)	missense	probably damaging	1.00
R8353:Htt	UTSW	5	34,877,155 (GRCm38)	missense	possibly damaging	0.49
R8769:Htt	UTSW	5	34,820,289 (GRCm38)	missense	probably benign	0.05
R8808:Htt	UTSW	5	34,889,447 (GRCm38)	missense	probably benign	0.10
R8825:Htt	UTSW	5	34,825,960 (GRCm38)	missense	probably benign	0.24
R8843:Htt	UTSW	5	34,889,465 (GRCm38)	missense	possibly damaging	0.92
R8856:Htt	UTSW	5	34,903,331 (GRCm38)	missense	probably benign	0.44
R8882:Htt	UTSW	5	34,821,717 (GRCm38)	missense	probably benign
R8898:Htt	UTSW	5	34,819,032 (GRCm38)	missense	probably benign	0.01
R8964:Htt	UTSW	5	34,905,376 (GRCm38)	missense	probably benign	0.09
R8987:Htt	UTSW	5	34,820,024 (GRCm38)	missense	probably benign	0.18
R8991:Htt	UTSW	5	34,905,718 (GRCm38)	missense	probably damaging	1.00
R9005:Htt	UTSW	5	34,817,751 (GRCm38)	missense	possibly damaging	0.92
R9019:Htt	UTSW	5	34,866,576 (GRCm38)	missense	probably damaging	1.00
R9057:Htt	UTSW	5	34,852,110 (GRCm38)	missense	possibly damaging	0.86
R9157:Htt	UTSW	5	34,829,827 (GRCm38)	missense	probably null	0.89
R9205:Htt	UTSW	5	34,819,023 (GRCm38)	missense	probably benign	0.00
R9223:Htt	UTSW	5	34,905,348 (GRCm38)	missense	probably benign	0.01
R9243:Htt	UTSW	5	34,898,932 (GRCm38)	splice site	probably benign
R9329:Htt	UTSW	5	34,832,613 (GRCm38)	missense	possibly damaging	0.69
R9355:Htt	UTSW	5	34,895,903 (GRCm38)	missense	probably benign
R9402:Htt	UTSW	5	34,848,980 (GRCm38)	missense	probably damaging	1.00
R9446:Htt	UTSW	5	34,761,928 (GRCm38)	missense	probably benign
R9716:Htt	UTSW	5	34,854,675 (GRCm38)	missense	probably damaging	1.00
Z1177:Htt	UTSW	5	34,852,231 (GRCm38)	missense	probably null	0.87

Predicted Primers

PCR Primer
(F):5'- AATGAGTGTGTAGGGGCATC -3'
(R):5'- GTGCTACTTTGGAATCTGTTGAAAG -3'

Sequencing Primer
(F):5'- GGAAAGACCTTTTGCATGCTAAGC -3'
(R):5'- TGGAATCTGTTGAAAGAACTACAC -3'

Posted On

2014-10-30