Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Htt'

33381

Institutional Source

Beutler Lab

Gene Symbol

Htt

Ensembl Gene

ENSMUSG00000029104

Gene Name

huntingtin

Synonyms

HD, Hdh, htt, huntingtin, IT15

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34761740-34912534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34896908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 2574 (K2574E)

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: K2574E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: K2574E

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: ENSMUST00000124272

Meta Mutation Damage Score

0.0835

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039	F488S	probably damaging	Het
Acap3	C	T	4: 155,899,424	R116W	probably damaging	Het
Adamts10	C	A	17: 33,545,390	P663T	possibly damaging	Het
Akap12	G	A	10: 4,353,333	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,031	M261K	probably benign	Het
Ankzf1	C	A	1: 75,198,304	D599E	possibly damaging	Het
Aox1	T	C	1: 58,105,014	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 62,950,079	Y327H	probably benign	Het
Asxl3	T	A	18: 22,411,496		probably benign	Het
Birc6	C	A	17: 74,662,832		probably benign	Het
Btaf1	T	A	19: 37,009,648	L1714*	probably null	Het
Cacng6	T	A	7: 3,425,004		probably benign	Het
Cdc20b	A	G	13: 113,078,612	D238G	probably damaging	Het
Celf5	T	A	10: 81,470,698	R113W	probably null	Het
Cfap70	C	A	14: 20,412,347	E659D	probably damaging	Het
Clspn	T	A	4: 126,590,598	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,453,891	R275C	probably damaging	Het
Dst	C	T	1: 34,186,935	S1721L	probably benign	Het
Faap100	T	C	11: 120,374,365	T562A	probably damaging	Het
Fam168b	T	C	1: 34,819,688	M133V	probably damaging	Het
Farp2	T	C	1: 93,569,087	I172T	probably damaging	Het
Fer	T	G	17: 63,896,278	S68A	probably damaging	Het
Fmo5	A	G	3: 97,645,681	E315G	probably damaging	Het
Gpr89	A	T	3: 96,871,480	F426I	probably damaging	Het
Hinfp	T	C	9: 44,296,327	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 193,240,248	V167D	probably damaging	Het
I830077J02Rik	A	G	3: 105,926,505	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,105,617	M344L	probably benign	Het
Itch	A	T	2: 155,202,257	Q494L	probably benign	Het
Itga9	T	C	9: 118,769,253		probably benign	Het
Jaml	T	A	9: 45,093,767	D152E	probably benign	Het
Kif22	A	C	7: 127,042,400	M1R	probably null	Het
Kifap3	T	C	1: 163,883,386	Y663H	probably benign	Het
Letm2	T	A	8: 25,578,770	N472I	probably damaging	Het
Mthfr	T	G	4: 148,052,224	V446G	probably damaging	Het
Myh11	T	C	16: 14,211,260	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,288,056	V903I	probably damaging	Het
Myo9b	C	T	8: 71,355,225		probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nsd3	A	G	8: 25,683,257	N859S	probably benign	Het
Nucb2	C	A	7: 116,536,010	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,342,037		probably null	Het
Olfr119	C	A	17: 37,701,058	C129*	probably null	Het
Olfr1247	G	A	2: 89,609,863	L80F	probably damaging	Het
Olfr1357	T	C	10: 78,611,871	T257A	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr381	A	T	11: 73,486,575	L83Q	probably benign	Het
Parp10	C	T	15: 76,242,633	S145N	probably benign	Het
Pigh	A	G	12: 79,083,709		probably benign	Het
Pigo	A	G	4: 43,023,824		probably benign	Het
Pkp4	T	A	2: 59,305,488	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143		probably null	Het
Ppfia3	C	A	7: 45,348,534	R723L	probably damaging	Het
Prex1	C	A	2: 166,585,898	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,495,840	V457E	probably damaging	Het
Rab39	A	G	9: 53,705,971	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,545,762		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,276,992	D8G	probably benign	Het
Slc17a6	A	G	7: 51,646,180		probably benign	Het
Slc24a4	T	A	12: 102,228,951		probably null	Het
Smc1b	C	T	15: 85,123,759	M272I	probably benign	Het
Smc6	T	C	12: 11,283,178		probably benign	Het
Tcf20	T	C	15: 82,855,085	T722A	probably benign	Het
Tesmin	A	T	19: 3,404,088	M141L	probably benign	Het
Tmprss5	T	A	9: 49,113,160	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,937,318		probably null	Het
Tpr	T	C	1: 150,417,427	S868P	possibly damaging	Het
Trank1	C	T	9: 111,366,253	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,572,917	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,777,785	V1037E	probably benign	Het
Usp43	A	G	11: 67,876,499	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,142,882	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,611,589	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,525,052	V246I	probably benign	Het
Wdr66	T	C	5: 123,283,447	V182A	probably damaging	Het
Wiz	C	T	17: 32,357,033	G790R	probably damaging	Het
Wnk1	A	T	6: 119,952,733	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,311,174	L909S	probably benign	Het
Zfp236	T	A	18: 82,640,227	I637F	probably damaging	Het
Zfp788	G	A	7: 41,649,596	G532D	probably damaging	Het
Zranb1	T	C	7: 132,950,385	I255T	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	34,907,466 (GRCm38)	missense	probably benign	0.02
IGL03344:Htt	APN	5	34,879,828 (GRCm38)	missense	probably benign	0.39
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
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
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'- ATGGCATGGCAGCTCAGAGTACAG -3'
(R):5'- TGTGGTATGTGGCTCAAGCTCAAAG -3'

Sequencing Primer
(F):5'- GTTAACTTGAGGCAGCCATC -3'
(R):5'- CTTGTAGCTCATGTTGCCTG -3'

Posted On

2013-05-09