Incidental Mutation 'R2131:Htt'
| ID |
228059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htt
|
| Ensembl Gene |
ENSMUSG00000029104 |
| Gene Name |
huntingtin |
| Synonyms |
Hdh, huntingtin, HD, IT15, htt, C430023I11Rik |
| MMRRC Submission |
040134-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2131 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34919084-35069878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35034453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1975
(R1975G)
|
| 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: R1975G
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: R1975G
| 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: ENSMUST00000135039
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,553,223 (GRCm39) |
N178I |
probably damaging |
Het |
| Acvr2b |
A |
G |
9: 119,261,874 (GRCm39) |
R437G |
probably damaging |
Het |
| Adamtsl3 |
C |
A |
7: 82,227,802 (GRCm39) |
A1329E |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,596,124 (GRCm39) |
I71V |
probably damaging |
Het |
| Adra1a |
A |
T |
14: 66,964,981 (GRCm39) |
I324F |
possibly damaging |
Het |
| Akap13 |
G |
T |
7: 75,261,182 (GRCm39) |
A1269S |
probably benign |
Het |
| Ampd1 |
G |
T |
3: 103,002,194 (GRCm39) |
|
probably null |
Het |
| Ankrd16 |
T |
A |
2: 11,788,506 (GRCm39) |
D211E |
probably damaging |
Het |
| Aopep |
T |
A |
13: 63,357,963 (GRCm39) |
C656S |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,209,002 (GRCm39) |
H845R |
probably damaging |
Het |
| Apc |
C |
A |
18: 34,445,098 (GRCm39) |
Q665K |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,835,301 (GRCm39) |
N747S |
probably damaging |
Het |
| Arsk |
A |
T |
13: 76,239,931 (GRCm39) |
C47* |
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,370,726 (GRCm39) |
F1001I |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,980,288 (GRCm39) |
Y645* |
probably null |
Het |
| Brca2 |
A |
G |
5: 150,480,594 (GRCm39) |
Y2760C |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,215,416 (GRCm39) |
F76I |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,332,450 (GRCm39) |
G430R |
possibly damaging |
Het |
| Castor2 |
G |
A |
5: 134,164,992 (GRCm39) |
C187Y |
probably damaging |
Het |
| Ccdc27 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
4: 154,120,763 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
A |
C |
4: 109,522,260 (GRCm39) |
N28K |
probably null |
Het |
| Celsr1 |
T |
A |
15: 85,847,424 (GRCm39) |
I1438F |
probably benign |
Het |
| Cfhr2 |
T |
G |
1: 139,758,893 (GRCm39) |
R52S |
probably benign |
Het |
| Cldn1 |
G |
C |
16: 26,190,300 (GRCm39) |
A26G |
probably damaging |
Het |
| Col20a1 |
T |
A |
2: 180,634,366 (GRCm39) |
F110L |
probably damaging |
Het |
| Creg2 |
T |
C |
1: 39,664,146 (GRCm39) |
N204S |
probably benign |
Het |
| Cx3cl1 |
C |
A |
8: 95,506,201 (GRCm39) |
Q69K |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,176,958 (GRCm39) |
E74G |
possibly damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,520,135 (GRCm39) |
I456F |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,877,345 (GRCm39) |
E528G |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,909,481 (GRCm39) |
W1365R |
possibly damaging |
Het |
| Dbt |
T |
A |
3: 116,332,773 (GRCm39) |
D16E |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,125 (GRCm39) |
L1469* |
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,566,982 (GRCm39) |
T2415S |
possibly damaging |
Het |
| Dnmbp |
A |
G |
19: 43,842,750 (GRCm39) |
L1210S |
probably damaging |
Het |
| Dpyd |
T |
C |
3: 118,468,217 (GRCm39) |
V77A |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,140,712 (GRCm39) |
V260D |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,241,198 (GRCm39) |
V573A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,710,202 (GRCm39) |
S625T |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,831,557 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,798,567 (GRCm39) |
D137E |
probably benign |
Het |
| Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,422,610 (GRCm39) |
D474G |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,815,456 (GRCm39) |
V116D |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,405 (GRCm39) |
M1V |
probably null |
Het |
| Hnf4a |
T |
A |
2: 163,389,338 (GRCm39) |
N29K |
probably benign |
Het |
| Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
| Il4i1 |
G |
A |
7: 44,489,494 (GRCm39) |
V420M |
probably damaging |
Het |
| Insrr |
G |
A |
3: 87,717,879 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
| Jmjd4 |
A |
T |
11: 59,345,781 (GRCm39) |
H287L |
probably damaging |
Het |
| Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 941,483 (GRCm39) |
L1228P |
probably benign |
Het |
| Klra3 |
A |
G |
6: 130,312,738 (GRCm39) |
S9P |
probably benign |
Het |
| Ldhd |
C |
T |
8: 112,355,169 (GRCm39) |
|
probably null |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,137,674 (GRCm39) |
D670V |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,111,806 (GRCm39) |
T842I |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,672,708 (GRCm39) |
T534A |
possibly damaging |
Het |
| Lrrc24 |
A |
T |
15: 76,599,781 (GRCm39) |
F453I |
possibly damaging |
Het |
| Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
| Mcpt8 |
T |
C |
14: 56,319,740 (GRCm39) |
I237V |
probably damaging |
Het |
| Med4 |
A |
G |
14: 73,755,436 (GRCm39) |
N248S |
possibly damaging |
Het |
| Mest |
C |
T |
6: 30,745,884 (GRCm39) |
L269F |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,739,695 (GRCm39) |
|
probably null |
Het |
| Mki67 |
T |
A |
7: 135,305,970 (GRCm39) |
|
probably null |
Het |
| Mnx1 |
T |
A |
5: 29,679,187 (GRCm39) |
S299C |
unknown |
Het |
| Nbr1 |
T |
A |
11: 101,457,017 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
T |
G |
9: 26,994,642 (GRCm39) |
V1174G |
probably damaging |
Het |
| Nyap1 |
A |
C |
5: 137,731,943 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
A |
3: 103,643,185 (GRCm39) |
M399L |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,668,314 (GRCm39) |
D23G |
probably damaging |
Het |
| Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
| Or1j13 |
A |
G |
2: 36,370,059 (GRCm39) |
S28P |
possibly damaging |
Het |
| Or6c205 |
T |
C |
10: 129,086,943 (GRCm39) |
F180S |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,416,558 (GRCm39) |
I546K |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,899,524 (GRCm39) |
N275I |
probably damaging |
Het |
| Pcdhb14 |
C |
A |
18: 37,580,923 (GRCm39) |
Q10K |
probably benign |
Het |
| Pcx |
T |
C |
19: 4,652,579 (GRCm39) |
F189L |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,576,069 (GRCm39) |
D718G |
probably damaging |
Het |
| Pklr |
C |
A |
3: 89,049,967 (GRCm39) |
P314Q |
probably damaging |
Het |
| Plcb1 |
T |
A |
2: 135,167,587 (GRCm39) |
Y460* |
probably null |
Het |
| Plekha6 |
C |
A |
1: 133,207,103 (GRCm39) |
|
probably null |
Het |
| Plekho1 |
A |
G |
3: 95,896,429 (GRCm39) |
S347P |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,327,058 (GRCm39) |
D331N |
probably benign |
Het |
| Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
| Prkra |
A |
T |
2: 76,477,480 (GRCm39) |
I75K |
probably damaging |
Het |
| Ptpn11 |
G |
A |
5: 121,310,089 (GRCm39) |
A31V |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,468,124 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,937,430 (GRCm39) |
C947* |
probably null |
Het |
| Ren1 |
C |
G |
1: 133,278,516 (GRCm39) |
|
probably null |
Het |
| Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
| Sarm1 |
A |
T |
11: 78,366,133 (GRCm39) |
C649S |
probably benign |
Het |
| Septin12 |
T |
A |
16: 4,809,643 (GRCm39) |
Q223L |
probably damaging |
Het |
| Septin4 |
A |
T |
11: 87,474,262 (GRCm39) |
Q60L |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,870,559 (GRCm39) |
L42Q |
probably damaging |
Het |
| Slc44a1 |
GCCC |
GCCCCCCC |
4: 53,563,246 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
G |
1: 40,646,901 (GRCm39) |
|
probably null |
Het |
| Sort1 |
T |
A |
3: 108,259,002 (GRCm39) |
F678Y |
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,737,908 (GRCm39) |
C259* |
probably null |
Het |
| Spata31e2 |
T |
C |
1: 26,724,935 (GRCm39) |
R82G |
probably benign |
Het |
| Stard13 |
T |
C |
5: 150,968,633 (GRCm39) |
Y879C |
probably damaging |
Het |
| Stk24 |
A |
T |
14: 121,539,623 (GRCm39) |
I191N |
probably damaging |
Het |
| Tacc1 |
A |
T |
8: 25,654,509 (GRCm39) |
N271K |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,223,587 (GRCm39) |
S91T |
possibly damaging |
Het |
| Tacr3 |
T |
C |
3: 134,637,941 (GRCm39) |
V366A |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,198,571 (GRCm39) |
N1301S |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,660,739 (GRCm39) |
S26P |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,145,463 (GRCm39) |
T595S |
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,113,888 (GRCm39) |
M457L |
possibly damaging |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,095 (GRCm39) |
Y467C |
probably damaging |
Het |
| Ttc9b |
T |
A |
7: 27,353,774 (GRCm39) |
|
probably null |
Het |
| Tti1 |
T |
C |
2: 157,842,663 (GRCm39) |
R789G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,662,561 (GRCm39) |
|
probably null |
Het |
| Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
| Ube3d |
A |
T |
9: 86,254,540 (GRCm39) |
|
probably null |
Het |
| Vav2 |
C |
A |
2: 27,189,408 (GRCm39) |
R176L |
possibly damaging |
Het |
| Vps35l |
T |
C |
7: 118,393,798 (GRCm39) |
Y516H |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,148,594 (GRCm39) |
D133V |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,968,469 (GRCm39) |
Y503* |
probably null |
Het |
| Zdhhc13 |
T |
A |
7: 48,474,392 (GRCm39) |
L548Q |
possibly damaging |
Het |
| Zfp467 |
A |
C |
6: 48,419,595 (GRCm39) |
S38A |
probably 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 |
|
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 |
|
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'- TCAGTCTCGCTGTGAAAATCTTTC -3'
(R):5'- AGTGGCCAATCAAGACCAGG -3'
Sequencing Primer
(F):5'- AACGGTAAGTCTTTAGCCTGCCAG -3'
(R):5'- TGGCCAATCAAGACCAGGTCAATAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation