Mutagenetix > Incidental Mutation

Incidental Mutation 'R2013:Htt'

222335

Institutional Source

Beutler Lab

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

Hdh, huntingtin, HD, IT15, htt, C430023I11Rik

MMRRC Submission

040022-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2013 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34919084-35069878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35010215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1556 (L1556R)

Ref Sequence

ENSEMBL: ENSMUSP00000078945 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000080036
AA Change: L1556R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: L1556R

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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.7%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	G	17: 48,347,723 (GRCm39)	T194P	possibly damaging	Het
4921504E06Rik	T	A	2: 19,545,124 (GRCm39)	M110L	probably benign	Het
Acad9	T	G	3: 36,127,737 (GRCm39)	I113R	probably damaging	Het
Adam34l	T	C	8: 44,079,442 (GRCm39)	S261G	possibly damaging	Het
Adamts6	A	T	13: 104,450,812 (GRCm39)	I332F	probably damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Afg3l2	C	T	18: 67,564,842 (GRCm39)	V211I	probably damaging	Het
Ahnak	T	C	19: 8,991,937 (GRCm39)	I4407T	probably damaging	Het
Alpl	G	T	4: 137,482,458 (GRCm39)	H79N	probably benign	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Ascc3	T	C	10: 50,525,908 (GRCm39)	M540T	probably damaging	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Btbd8	T	C	5: 107,658,655 (GRCm39)	W1742R	probably damaging	Het
Cadps	T	A	14: 12,522,337 (GRCm38)	D609V	probably damaging	Het
Ccdc69	C	T	11: 54,941,983 (GRCm39)	M174I	probably benign	Het
Cdk13	A	T	13: 17,913,748 (GRCm39)	L877*	probably null	Het
Cdk14	T	C	5: 5,143,047 (GRCm39)	Y228C	probably damaging	Het
Dip2c	C	T	13: 9,617,882 (GRCm39)	Q426*	probably null	Het
Dsp	A	G	13: 38,375,434 (GRCm39)	N1073S	probably damaging	Het
Epyc	T	C	10: 97,511,655 (GRCm39)	I216T	probably damaging	Het
Erbin	A	G	13: 103,994,041 (GRCm39)	S300P	probably damaging	Het
Ercc3	A	G	18: 32,381,482 (GRCm39)	T433A	probably benign	Het
Exoc4	A	G	6: 33,243,026 (GRCm39)	T80A	probably damaging	Het
Foxm1	T	A	6: 128,352,465 (GRCm39)		probably null	Het
Gaa	A	G	11: 119,175,409 (GRCm39)		probably null	Het
H2-Q4	A	G	17: 35,599,526 (GRCm39)	E203G	probably damaging	Het
Helt	T	C	8: 46,745,355 (GRCm39)	D214G	probably damaging	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hmmr	A	T	11: 40,619,259 (GRCm39)	S74T	possibly damaging	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Ift80	T	C	3: 68,898,117 (GRCm39)	K73E	possibly damaging	Het
Il6st	G	A	13: 112,635,423 (GRCm39)	A551T	probably null	Het
Kdm5a	T	C	6: 120,408,951 (GRCm39)	S1545P	probably benign	Het
Lef1	T	A	3: 130,905,236 (GRCm39)	I39N	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp6	A	G	6: 134,457,337 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,577,807 (GRCm39)	D59G	probably damaging	Het
Maged1	T	C	X: 93,580,523 (GRCm39)	Y636C	possibly damaging	Het
Mamdc4	T	A	2: 25,453,584 (GRCm39)	D1195V	probably damaging	Het
Mob3b	A	G	4: 35,083,922 (GRCm39)	V89A	probably benign	Het
Mogs	C	T	6: 83,094,631 (GRCm39)	R483*	probably null	Het
Mybphl	A	C	3: 108,282,718 (GRCm39)	T203P	probably benign	Het
Myo15a	A	G	11: 60,385,057 (GRCm39)	T1720A	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nes	A	G	3: 87,883,985 (GRCm39)	Q748R	possibly damaging	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Nlrc3	A	C	16: 3,782,974 (GRCm39)	L161R	probably damaging	Het
Npy2r	T	A	3: 82,448,487 (GRCm39)	D96V	probably damaging	Het
Or4d11	T	A	19: 12,013,518 (GRCm39)	E196V	probably damaging	Het
Or5w18	T	G	2: 87,632,847 (GRCm39)	V38G	probably damaging	Het
Pappa2	C	T	1: 158,662,498 (GRCm39)	C1159Y	probably damaging	Het
Phf21a	T	C	2: 92,058,828 (GRCm39)		probably null	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Psg22	A	T	7: 18,453,560 (GRCm39)	Y85F	possibly damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Qtrt2	A	G	16: 43,689,455 (GRCm39)	I181T	probably damaging	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Scn10a	A	T	9: 119,442,802 (GRCm39)	I1481N	probably damaging	Het
Slc15a1	G	A	14: 121,713,399 (GRCm39)	A376V	possibly damaging	Het
Slc25a46	A	T	18: 31,742,778 (GRCm39)	H29Q	probably benign	Het
Slit2	T	C	5: 48,459,832 (GRCm39)	C1354R	probably damaging	Het
Ssu2	C	T	6: 112,360,902 (GRCm39)	E52K	possibly damaging	Het
Taar7e	A	T	10: 23,913,732 (GRCm39)	H74L	possibly damaging	Het
Tcte1	A	T	17: 45,852,237 (GRCm39)	N490I	probably benign	Het
Tent4b	T	A	8: 88,972,223 (GRCm39)		probably null	Het
Tpst2	G	T	5: 112,455,880 (GRCm39)	G140C	probably damaging	Het
Trip11	A	T	12: 101,803,981 (GRCm39)	F1634I	probably damaging	Het
Trpm2	A	G	10: 77,761,600 (GRCm39)	F1017L	probably damaging	Het
Utp18	A	G	11: 93,766,948 (GRCm39)	V253A	possibly damaging	Het
Vmn2r102	A	G	17: 19,897,006 (GRCm39)	T118A	probably benign	Het
Vmn2r14	T	C	5: 109,369,109 (GRCm39)	T155A	probably benign	Het
Vmn2r19	T	A	6: 123,292,954 (GRCm39)	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vmn2r79	T	G	7: 86,653,289 (GRCm39)	L518R	possibly damaging	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vps13d	A	G	4: 144,835,078 (GRCm39)	S2757P	probably damaging	Het
Wdr33	C	A	18: 32,022,029 (GRCm39)	Q860K	unknown	Het
Zfp423	T	A	8: 88,509,025 (GRCm39)	I440F	probably benign	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	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
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

Predicted Primers

PCR Primer
(F):5'- CTGATAGCTGTCTCTCATGAGTC -3'
(R):5'- CCTGTGACATTAGCATCTCGAC -3'

Sequencing Primer
(F):5'- GATAGCTGTCTCTCATGAGTCATTTC -3'
(R):5'- CTCGACTGAAACTCTAGTGGTCAG -3'

Posted On

2014-08-25