Mutagenetix > Incidental Mutation

Incidental Mutation 'R8058:Htt'

619524

Institutional Source

Beutler Lab

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

HD, Hdh, htt, huntingtin, IT15

MMRRC Submission

067495-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34761740-34912534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34820100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 777 (T777A)

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: T777A

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

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: T777A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,081,954 (GRCm38)	D769N	possibly damaging	Het
Abcb6	A	G	1: 75,180,009 (GRCm38)	L37P	possibly damaging	Het
Abcg1	G	T	17: 31,105,530 (GRCm38)	A250S	probably benign	Het
Acsf3	C	T	8: 122,813,634 (GRCm38)	H524Y	possibly damaging	Het
Agbl4	A	G	4: 110,660,842 (GRCm38)	K110R	unknown	Het
Arfgap2	G	A	2: 91,266,299 (GRCm38)		probably null	Het
B4galt4	T	C	16: 38,766,021 (GRCm38)		probably null	Het
Bex6	G	T	16: 32,186,406 (GRCm38)	D11Y	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
C8b	A	T	4: 104,790,614 (GRCm38)	D334V	probably damaging	Het
Capn11	T	C	17: 45,643,755 (GRCm38)	Q152R	probably null	Het
Ccdc171	C	A	4: 83,580,766 (GRCm38)	Q234K	probably damaging	Het
Cemip2	C	A	19: 21,852,331 (GRCm38)	A1268E	probably benign	Het
Clec2h	A	G	6: 128,674,003 (GRCm38)	D82G	probably benign	Het
Creld2	A	G	15: 88,826,429 (GRCm38)	D349G	probably damaging	Het
D430041D05Rik	A	G	2: 104,148,783 (GRCm38)	*1415Q	probably null	Het
Dnmt3a	T	C	12: 3,902,768 (GRCm38)	V755A	possibly damaging	Het
Doc2a	G	T	7: 126,850,992 (GRCm38)	V201L	probably benign	Het
Fan1	T	A	7: 64,372,486 (GRCm38)	N340Y	probably damaging	Het
Fbn1	G	T	2: 125,351,969 (GRCm38)	D1359E	possibly damaging	Het
Fcnb	T	C	2: 28,079,695 (GRCm38)	Y120C	probably damaging	Het
Fras1	T	A	5: 96,694,919 (GRCm38)	D1665E	probably benign	Het
Fry	A	T	5: 150,495,767 (GRCm38)	D524V		Het
Garem1	A	G	18: 21,148,564 (GRCm38)	L245P	probably damaging	Het
Gdf6	A	G	4: 9,859,712 (GRCm38)	S265G	probably benign	Het
Gm5591	T	C	7: 38,518,939 (GRCm38)	I837V	probably benign	Het
Gpr61	T	C	3: 108,150,895 (GRCm38)	Y150C	probably damaging	Het
Grin2b	A	T	6: 135,733,227 (GRCm38)	L1107Q	probably damaging	Het
Helb	A	G	10: 120,105,578 (GRCm38)	S402P	probably benign	Het
Iffo2	A	G	4: 139,613,853 (GRCm38)	D383G	probably benign	Het
Ikzf3	G	T	11: 98,516,927 (GRCm38)	Y29*	probably null	Het
Ints2	A	T	11: 86,255,353 (GRCm38)	M143K	probably benign	Het
Jmjd1c	T	C	10: 67,254,495 (GRCm38)	V2292A	not run	Het
Katnip	A	G	7: 125,843,016 (GRCm38)	E725G	probably benign	Het
Lamb1	C	A	12: 31,303,047 (GRCm38)	Q916K	probably benign	Het
Lrrtm4	G	A	6: 80,022,545 (GRCm38)	M313I	probably benign	Het
Lum	A	G	10: 97,568,563 (GRCm38)	I107V	probably benign	Het
Ly6h	T	C	15: 75,565,212 (GRCm38)	E126G	probably benign	Het
Map3k5	G	A	10: 20,132,114 (GRCm38)	V1230M	probably damaging	Het
Mcoln1	T	C	8: 3,508,378 (GRCm38)	F211L	probably benign	Het
Mink1	G	A	11: 70,603,768 (GRCm38)	W258*	probably null	Het
Muc16	G	T	9: 18,660,002 (GRCm38)	S407*	probably null	Het
Ngef	G	A	1: 87,546,022 (GRCm38)	Q13*	probably null	Het
Nxpe5	T	A	5: 138,239,311 (GRCm38)	Y44*	probably null	Het
Or13d1	T	A	4: 52,971,106 (GRCm38)	L162M	probably benign	Het
Or4a77	A	G	2: 89,657,327 (GRCm38)	V38A	probably benign	Het
Or5t9	A	G	2: 86,829,708 (GRCm38)	R319G	probably benign	Het
Or7e178	T	A	9: 20,314,180 (GRCm38)	I247F	probably damaging	Het
Or8g24	A	T	9: 39,078,566 (GRCm38)	Y60N	probably damaging	Het
Or8h8	C	A	2: 86,922,807 (GRCm38)	A242S	probably benign	Het
Orc3	C	A	4: 34,595,223 (GRCm38)	E249*	probably null	Het
Otogl	A	T	10: 107,762,426 (GRCm38)	C2288S	probably damaging	Het
Pde1b	A	G	15: 103,524,811 (GRCm38)	E249G	probably damaging	Het
Phf2	T	C	13: 48,823,082 (GRCm38)	E219G	unknown	Het
Rbm19	T	A	5: 120,140,375 (GRCm38)		probably null	Het
Rcc2	G	A	4: 140,702,275 (GRCm38)	C40Y	probably benign	Het
Sbk2	A	G	7: 4,957,290 (GRCm38)	Y294H	possibly damaging	Het
Selenoo	T	C	15: 89,092,739 (GRCm38)	I198T	possibly damaging	Het
Sema3f	T	C	9: 107,682,601 (GRCm38)	E729G	probably benign	Het
Serpinb1b	A	T	13: 33,085,310 (GRCm38)	T9S	probably benign	Het
Sfxn4	T	C	19: 60,844,252 (GRCm38)	T235A	probably damaging	Het
Shc4	A	T	2: 125,649,234 (GRCm38)	Y461*	probably null	Het
Slc22a15	T	C	3: 101,864,610 (GRCm38)	D391G	probably benign	Het
Slc22a23	G	T	13: 34,305,184 (GRCm38)	Y239*	probably null	Het
Slc24a2	G	A	4: 86,991,513 (GRCm38)	A656V	probably damaging	Het
Slc2a5	A	T	4: 150,143,133 (GRCm38)	I470F	probably damaging	Het
Sptbn4	T	C	7: 27,364,269 (GRCm38)	E2249G	possibly damaging	Het
Tas2r139	A	T	6: 42,141,819 (GRCm38)	Q295L	probably benign	Het
Tdrd7	C	A	4: 46,034,309 (GRCm38)	S1051R	probably benign	Het
Tnfrsf18	G	A	4: 156,028,345 (GRCm38)	A163T	probably benign	Het
Ube3b	T	C	5: 114,406,785 (GRCm38)	V596A	possibly damaging	Het
Vmn2r10	T	A	5: 109,002,089 (GRCm38)	N363I	probably benign	Het
Vmn2r15	T	A	5: 109,293,090 (GRCm38)	I301F	probably damaging	Het
Yod1	C	T	1: 130,719,069 (GRCm38)	Q228*	probably null	Het
Zfp433	A	T	10: 81,720,290 (GRCm38)	K209*	probably null	Het
Zfp865	G	A	7: 5,030,446 (GRCm38)	V477I	probably benign	Het
Zfp937	T	A	2: 150,239,501 (GRCm38)	Y484N	probably benign	Het
Zfp951	T	G	5: 104,814,446 (GRCm38)	H418P	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
R2345:Htt	UTSW	5	34,826,004 (GRCm38)	missense	possibly damaging	0.80
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
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'- GCCATTTATGTCCGCAGAGG -3'
(R):5'- AGCTCACTAAGGCAAGGAAC -3'

Sequencing Primer
(F):5'- CCGCAGAGGAACAGTATGTTTC -3'
(R):5'- CTCACTAAGGCAAGGAACAGTTTATG -3'

Posted On

2020-01-23