Incidental Mutation 'R5137:Trak1'
| ID |
396217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
042723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R5137 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 121196121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000209211]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045903
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
47 |
352 |
8.1e-139 |
PFAM |
|
Pfam:Milton
|
411 |
580 |
5e-72 |
PFAM |
|
low complexity region
|
882 |
897 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211149
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice with a spontaneous mutation in this allele have various behavioral abnormalities consistent with hypertonia. Inclusions can be found in neuronal processes of the gray matter of the brainstem and spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,123,920 (GRCm39) |
V75A |
probably benign |
Het |
| Ace |
G |
C |
11: 105,865,652 (GRCm39) |
W628C |
probably damaging |
Het |
| Adh4 |
T |
C |
3: 138,127,996 (GRCm39) |
S141P |
probably benign |
Het |
| Apob |
T |
C |
12: 8,061,384 (GRCm39) |
Y3256H |
possibly damaging |
Het |
| B3galnt1 |
G |
T |
3: 69,482,282 (GRCm39) |
N326K |
probably benign |
Het |
| Bltp3a |
T |
G |
17: 28,095,964 (GRCm39) |
|
probably null |
Het |
| Catsperb |
T |
C |
12: 101,516,070 (GRCm39) |
F569L |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,732,478 (GRCm39) |
I225V |
probably benign |
Het |
| Cox5b |
A |
G |
1: 36,731,510 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,834,332 (GRCm39) |
D1953G |
probably damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,167,215 (GRCm39) |
T707M |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
G |
A |
11: 44,882,295 (GRCm39) |
R409Q |
probably damaging |
Het |
| Eef2k |
G |
A |
7: 120,484,645 (GRCm39) |
A256T |
probably damaging |
Het |
| Eef2k |
C |
A |
7: 120,484,646 (GRCm39) |
A256D |
probably damaging |
Het |
| Evl |
C |
G |
12: 108,647,781 (GRCm39) |
T294S |
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,573,548 (GRCm39) |
Y288H |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,509,014 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
T |
C |
2: 3,226,426 (GRCm39) |
Y395H |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,249,837 (GRCm39) |
R427L |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,783,233 (GRCm39) |
I91F |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,318 (GRCm39) |
S96P |
probably damaging |
Het |
| Gprc5d |
T |
A |
6: 135,093,031 (GRCm39) |
D292V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,355,505 (GRCm39) |
K2252R |
probably benign |
Het |
| Il1rl1 |
A |
T |
1: 40,489,285 (GRCm39) |
M346L |
probably benign |
Het |
| Kcna5 |
A |
T |
6: 126,510,946 (GRCm39) |
V394D |
probably damaging |
Het |
| Kcng4 |
A |
T |
8: 120,352,617 (GRCm39) |
M431K |
possibly damaging |
Het |
| Kifbp |
A |
T |
10: 62,414,020 (GRCm39) |
V46E |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,774,937 (GRCm39) |
F258L |
possibly damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,852,662 (GRCm39) |
C1001S |
probably damaging |
Het |
| Micu1 |
A |
G |
10: 59,663,054 (GRCm39) |
Q328R |
probably benign |
Het |
| Mmp11 |
G |
A |
10: 75,761,290 (GRCm39) |
P437S |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,287,716 (GRCm39) |
F119I |
possibly damaging |
Het |
| Myo6 |
A |
G |
9: 80,149,531 (GRCm39) |
E159G |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 156,721,833 (GRCm39) |
Y136N |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,130,428 (GRCm39) |
C321S |
probably damaging |
Het |
| Nos1 |
T |
C |
5: 118,043,378 (GRCm39) |
F551S |
probably benign |
Het |
| Nup153 |
C |
A |
13: 46,837,629 (GRCm39) |
G1198C |
probably damaging |
Het |
| Omd |
T |
C |
13: 49,743,552 (GRCm39) |
S201P |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
| Or4c120 |
C |
A |
2: 89,000,744 (GRCm39) |
V271F |
probably benign |
Het |
| Or51l14 |
A |
G |
7: 103,100,919 (GRCm39) |
Y125C |
probably damaging |
Het |
| Or51l14 |
C |
A |
7: 103,100,920 (GRCm39) |
Y125* |
probably null |
Het |
| Oxct1 |
G |
T |
15: 4,064,832 (GRCm39) |
A57S |
probably benign |
Het |
| Pcdhga7 |
T |
G |
18: 37,850,433 (GRCm39) |
S813R |
probably damaging |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,787 (GRCm39) |
I255F |
possibly damaging |
Het |
| Pdk1 |
T |
G |
2: 71,713,913 (GRCm39) |
M186R |
possibly damaging |
Het |
| Pelp1 |
T |
C |
11: 70,285,925 (GRCm39) |
T648A |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,628,621 (GRCm39) |
S570R |
possibly damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,299,992 (GRCm39) |
T270A |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,160,179 (GRCm39) |
G2130D |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,358,844 (GRCm39) |
Y663* |
probably null |
Het |
| Rit2 |
T |
C |
18: 31,286,817 (GRCm39) |
T123A |
probably benign |
Het |
| Rmdn2 |
A |
T |
17: 79,975,418 (GRCm39) |
E302D |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,801,283 (GRCm39) |
E827G |
possibly damaging |
Het |
| Siglec1 |
C |
T |
2: 130,923,264 (GRCm39) |
G494R |
probably damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,890,318 (GRCm39) |
Y329F |
probably damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,071,978 (GRCm39) |
L8Q |
possibly damaging |
Het |
| Smpdl3a |
C |
T |
10: 57,677,163 (GRCm39) |
S57L |
possibly damaging |
Het |
| Snx9 |
T |
C |
17: 5,978,528 (GRCm39) |
V566A |
probably damaging |
Het |
| Spaca1 |
A |
T |
4: 34,029,095 (GRCm39) |
I126N |
probably damaging |
Het |
| Spred1 |
T |
G |
2: 116,994,052 (GRCm39) |
I94S |
probably damaging |
Het |
| Tardbp |
T |
C |
4: 148,706,494 (GRCm39) |
D105G |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,326 (GRCm39) |
S1213G |
probably benign |
Het |
| Trem3 |
G |
A |
17: 48,556,756 (GRCm39) |
V76M |
possibly damaging |
Het |
| Ttc13 |
G |
T |
8: 125,421,674 (GRCm39) |
Y250* |
probably null |
Het |
| Ttll5 |
T |
G |
12: 85,969,819 (GRCm39) |
S714R |
possibly damaging |
Het |
| Ube2l6 |
T |
G |
2: 84,633,220 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,803,679 (GRCm39) |
S1090P |
probably damaging |
Het |
| Vezt |
T |
C |
10: 93,806,372 (GRCm39) |
T680A |
probably benign |
Het |
| Virma |
A |
G |
4: 11,546,297 (GRCm39) |
K1762E |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 76,057,074 (GRCm39) |
S57P |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,236,822 (GRCm39) |
D130Y |
probably damaging |
Het |
| Vwa8 |
T |
G |
14: 79,302,342 (GRCm39) |
F1004V |
probably damaging |
Het |
| Zfp35 |
A |
T |
18: 24,137,194 (GRCm39) |
K513* |
probably null |
Het |
| Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,978,505 (GRCm39) |
C636F |
probably damaging |
Het |
|
| Other mutations in Trak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Trak1
|
APN |
9 |
121,272,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01335:Trak1
|
APN |
9 |
121,283,382 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01777:Trak1
|
APN |
9 |
121,260,626 (GRCm39) |
splice site |
probably null |
|
|
IGL01804:Trak1
|
APN |
9 |
121,271,751 (GRCm39) |
splice site |
probably benign |
|
|
IGL01986:Trak1
|
APN |
9 |
121,302,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02248:Trak1
|
APN |
9 |
121,275,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Trak1
|
APN |
9 |
121,280,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Trak1
|
APN |
9 |
121,277,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Trak1
|
APN |
9 |
121,196,188 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
PIT4468001:Trak1
|
UTSW |
9 |
121,282,398 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0067:Trak1
|
UTSW |
9 |
121,301,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Trak1
|
UTSW |
9 |
121,283,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0535:Trak1
|
UTSW |
9 |
121,272,778 (GRCm39) |
missense |
probably null |
1.00 |
|
R0629:Trak1
|
UTSW |
9 |
121,196,233 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0671:Trak1
|
UTSW |
9 |
121,278,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0883:Trak1
|
UTSW |
9 |
121,282,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1160:Trak1
|
UTSW |
9 |
121,221,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1162:Trak1
|
UTSW |
9 |
121,282,407 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1168:Trak1
|
UTSW |
9 |
121,269,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Trak1
|
UTSW |
9 |
121,283,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2119:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2120:Trak1
|
UTSW |
9 |
121,302,063 (GRCm39) |
makesense |
probably null |
|
|
R2137:Trak1
|
UTSW |
9 |
121,302,028 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3162:Trak1
|
UTSW |
9 |
121,280,800 (GRCm39) |
splice site |
probably benign |
|
|
R3888:Trak1
|
UTSW |
9 |
121,271,863 (GRCm39) |
splice site |
probably null |
|
|
R3889:Trak1
|
UTSW |
9 |
121,274,939 (GRCm39) |
missense |
probably null |
0.40 |
|
R4031:Trak1
|
UTSW |
9 |
121,280,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Trak1
|
UTSW |
9 |
121,277,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4406:Trak1
|
UTSW |
9 |
121,260,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4631:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4632:Trak1
|
UTSW |
9 |
121,283,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4786:Trak1
|
UTSW |
9 |
121,301,560 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5159:Trak1
|
UTSW |
9 |
121,289,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5467:Trak1
|
UTSW |
9 |
121,275,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Trak1
|
UTSW |
9 |
121,272,703 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5664:Trak1
|
UTSW |
9 |
121,301,373 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5769:Trak1
|
UTSW |
9 |
121,277,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Trak1
|
UTSW |
9 |
121,289,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6257:Trak1
|
UTSW |
9 |
121,196,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6257:Trak1
|
UTSW |
9 |
121,275,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Trak1
|
UTSW |
9 |
121,280,792 (GRCm39) |
missense |
probably null |
0.03 |
|
R6399:Trak1
|
UTSW |
9 |
121,282,562 (GRCm39) |
splice site |
probably null |
|
|
R6513:Trak1
|
UTSW |
9 |
121,272,822 (GRCm39) |
missense |
probably benign |
|
|
R6579:Trak1
|
UTSW |
9 |
121,272,704 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6940:Trak1
|
UTSW |
9 |
121,272,784 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7120:Trak1
|
UTSW |
9 |
121,289,564 (GRCm39) |
missense |
probably benign |
|
|
R7299:Trak1
|
UTSW |
9 |
121,280,929 (GRCm39) |
splice site |
probably null |
|
|
R7304:Trak1
|
UTSW |
9 |
121,245,278 (GRCm39) |
missense |
probably benign |
|
|
R7396:Trak1
|
UTSW |
9 |
121,277,973 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7522:Trak1
|
UTSW |
9 |
121,271,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7657:Trak1
|
UTSW |
9 |
121,301,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Trak1
|
UTSW |
9 |
121,196,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7793:Trak1
|
UTSW |
9 |
121,245,264 (GRCm39) |
nonsense |
probably null |
|
|
R7999:Trak1
|
UTSW |
9 |
121,289,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Trak1
|
UTSW |
9 |
121,280,793 (GRCm39) |
missense |
probably benign |
|
|
R8215:Trak1
|
UTSW |
9 |
121,298,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Trak1
|
UTSW |
9 |
121,280,793 (GRCm39) |
missense |
probably benign |
|
|
R8261:Trak1
|
UTSW |
9 |
121,280,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Trak1
|
UTSW |
9 |
121,289,565 (GRCm39) |
nonsense |
probably null |
|
|
R8914:Trak1
|
UTSW |
9 |
121,272,847 (GRCm39) |
missense |
unknown |
|
|
R9072:Trak1
|
UTSW |
9 |
121,289,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Trak1
|
UTSW |
9 |
121,289,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Trak1
|
UTSW |
9 |
121,280,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9366:Trak1
|
UTSW |
9 |
121,301,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Trak1
|
UTSW |
9 |
121,220,924 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
|
| Posted On |
2016-06-21 |
Incidental Mutation