Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Htt'

507888

Institutional Source

Beutler Lab

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

Hdh, huntingtin, HD, IT15, htt, C430023I11Rik

MMRRC Submission

044450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34919084-35069878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35028103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1786 (D1786E)

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: D1786E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: D1786E

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

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,311,619 (GRCm39)	D1930N	probably benign	Het
Adam8	A	G	7: 139,564,720 (GRCm39)	L667S	probably damaging	Het
Adcy4	A	T	14: 56,016,500 (GRCm39)	I317N	probably damaging	Het
Agpat3	A	G	10: 78,120,872 (GRCm39)	F102S	probably damaging	Het
Apbb2	A	T	5: 66,522,325 (GRCm39)	W443R	probably damaging	Het
BC049715	T	A	6: 136,817,229 (GRCm39)	Y156*	probably null	Het
Bpifc	C	T	10: 85,813,576 (GRCm39)	V323I	probably benign	Het
Camp	T	G	9: 109,676,577 (GRCm39)	I149L	probably benign	Het
Cfap20dc	T	G	14: 8,473,414 (GRCm38)		probably null	Het
Cibar2	A	G	8: 120,898,858 (GRCm39)	I94T	possibly damaging	Het
Cnih1	A	G	14: 47,025,634 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,948,323 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,724 (GRCm39)	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084 (GRCm39)	V442I	probably benign	Het
Fam83g	G	T	11: 61,594,008 (GRCm39)	S514I	probably benign	Het
Fbxo7	A	G	10: 85,864,969 (GRCm39)	N93D	probably benign	Het
Fgf20	G	T	8: 40,734,153 (GRCm39)	S76*	probably null	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Fxr1	G	A	3: 34,100,401 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,798,195 (GRCm39)	L800H	probably damaging	Het
Gpn3	T	A	5: 122,512,022 (GRCm39)	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072 (GRCm39)	M743V	probably damaging	Het
Hira	A	G	16: 18,729,457 (GRCm39)	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,660,621 (GRCm39)		probably null	Het
Hsf2	T	G	10: 57,387,591 (GRCm39)	S370A	probably benign	Het
Ifit1bl2	T	A	19: 34,597,534 (GRCm39)	R27S	possibly damaging	Het
Il17rb	G	A	14: 29,724,928 (GRCm39)	A186V	probably benign	Het
Irak4	G	T	15: 94,449,691 (GRCm39)	E57*	probably null	Het
Kcnh2	T	A	5: 24,536,921 (GRCm39)	H221L	probably benign	Het
Kdm2b	T	C	5: 123,016,687 (GRCm39)	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,141,303 (GRCm39)	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,704,514 (GRCm39)	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,773,910 (GRCm39)	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,284,106 (GRCm39)	N52S	possibly damaging	Het
Lhfpl6	T	C	3: 53,167,935 (GRCm39)	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,539,243 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,846,848 (GRCm39)	I872T	probably benign	Het
Lrit3	T	C	3: 129,582,412 (GRCm39)	E525G	probably damaging	Het
Lrp1	T	C	10: 127,425,453 (GRCm39)	T726A	probably benign	Het
Mep1a	A	T	17: 43,813,283 (GRCm39)	N46K	probably damaging	Het
Muc16	C	A	9: 18,490,613 (GRCm39)		probably null	Het
N4bp1	A	C	8: 87,579,794 (GRCm39)	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,257,739 (GRCm39)	D26G	probably benign	Het
Neu4	G	A	1: 93,952,873 (GRCm39)	S414N	probably damaging	Het
Nudt9	A	G	5: 104,212,935 (GRCm39)	D336G	probably benign	Het
Obscn	C	A	11: 58,954,509 (GRCm39)	G3691V	possibly damaging	Het
Or4c52	A	C	2: 89,845,393 (GRCm39)	I40L	possibly damaging	Het
Or5t17	A	G	2: 86,832,364 (GRCm39)	N17S	probably damaging	Het
Pdgfd	T	A	9: 6,288,627 (GRCm39)	S94T	probably benign	Het
Picalm	A	G	7: 89,826,770 (GRCm39)	H290R	probably benign	Het
Pou2f3	A	T	9: 43,050,634 (GRCm39)	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,050,635 (GRCm39)	L242M	probably damaging	Het
Prkd3	C	T	17: 79,289,360 (GRCm39)	G187D	probably damaging	Het
Pwp1	A	G	10: 85,710,326 (GRCm39)	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,129 (GRCm39)	L1626P	probably damaging	Het
Resf1	T	C	6: 149,228,555 (GRCm39)	S534P	probably damaging	Het
Rin2	A	G	2: 145,702,939 (GRCm39)	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,995,832 (GRCm39)	T71A	probably benign	Het
Senp7	T	C	16: 55,982,738 (GRCm39)	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,167,703 (GRCm39)	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 24,006,377 (GRCm39)	S468G	probably benign	Het
Slc4a10	A	G	2: 62,112,310 (GRCm39)	N697S	probably benign	Het
Spint1	T	A	2: 119,075,759 (GRCm39)	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,434,905 (GRCm39)	M14K	probably benign	Het
Stard9	A	G	2: 120,531,608 (GRCm39)	K2622E	probably benign	Het
Tbc1d5	T	C	17: 51,089,338 (GRCm39)	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,559,190 (GRCm39)	C261S	probably benign	Het
Tmem150b	A	T	7: 4,727,373 (GRCm39)	I44N	probably benign	Het
Ttn	A	G	2: 76,608,502 (GRCm39)	L17807P	probably damaging	Het
Vcan	G	A	13: 89,873,492 (GRCm39)	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,441,291 (GRCm39)	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,212 (GRCm39)	S761G	probably benign	Het
Wdr11	A	T	7: 129,200,830 (GRCm39)	K34*	probably null	Het
Zfp120	A	T	2: 149,959,964 (GRCm39)	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253 (GRCm39)	P740A	probably benign	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
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
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'- AGTGCCAAGTGCTATAAAAGTATGG -3'
(R):5'- TCTCAGAGCAGCTTTGCCTC -3'

Sequencing Primer
(F):5'- TGGAAAAGGACAATGAATAGTCCTTG -3'
(R):5'- CTCAGGCCAAACACTGGG -3'

Posted On

2018-03-15