Incidental Mutation 'R9366:Trak1'
| ID |
708989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R9366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121301578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 778
(T778I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211301]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: T778I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T778I
| 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: ENSMUST00000209446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
C |
T |
8: 71,914,328 (GRCm39) |
R100Q |
probably benign |
Het |
| Acp5 |
C |
T |
9: 22,039,224 (GRCm39) |
C163Y |
probably damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,416,508 (GRCm39) |
R1108Q |
probably damaging |
Het |
| Atp2b4 |
C |
A |
1: 133,642,920 (GRCm39) |
G1062C |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,117,558 (GRCm39) |
M788K |
possibly damaging |
Het |
| C1s2 |
C |
A |
6: 124,602,694 (GRCm39) |
A506S |
probably benign |
Het |
| Capn9 |
C |
G |
8: 125,332,280 (GRCm39) |
T417S |
probably benign |
Het |
| Cd109 |
T |
G |
9: 78,622,275 (GRCm39) |
S1422A |
probably benign |
Het |
| Cd207 |
G |
T |
6: 83,648,779 (GRCm39) |
N294K |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,675 (GRCm39) |
E605G |
probably damaging |
Het |
| Cdhr1 |
C |
A |
14: 36,811,463 (GRCm39) |
G216V |
possibly damaging |
Het |
| Ckap2 |
A |
T |
8: 22,658,988 (GRCm39) |
M585K |
possibly damaging |
Het |
| Clp1 |
G |
T |
2: 84,556,473 (GRCm39) |
S2R |
probably benign |
Het |
| Cngb3 |
G |
T |
4: 19,395,983 (GRCm39) |
V342F |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,932,258 (GRCm39) |
D65G |
unknown |
Het |
| Col3a1 |
C |
T |
1: 45,380,391 (GRCm39) |
P972S |
unknown |
Het |
| Cxcr5 |
C |
T |
9: 44,424,730 (GRCm39) |
C309Y |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,708,281 (GRCm39) |
N478K |
probably damaging |
Het |
| Emb |
G |
T |
13: 117,357,096 (GRCm39) |
|
probably benign |
Het |
| Emsy |
A |
T |
7: 98,290,860 (GRCm39) |
N101K |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,548,448 (GRCm39) |
Y137H |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,519,271 (GRCm39) |
G354D |
probably benign |
Het |
| Fa2h |
A |
T |
8: 112,076,006 (GRCm39) |
Y206N |
probably benign |
Het |
| Gabrr2 |
T |
C |
4: 33,085,771 (GRCm39) |
V217A |
|
Het |
| Gimap4 |
A |
G |
6: 48,668,037 (GRCm39) |
K264R |
probably benign |
Het |
| Gpr31b |
C |
A |
17: 13,270,375 (GRCm39) |
D265Y |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,417,025 (GRCm39) |
T474A |
probably benign |
Het |
| Kif21a |
T |
C |
15: 90,843,951 (GRCm39) |
E1096G |
probably damaging |
Het |
| Letm2 |
A |
T |
8: 26,084,165 (GRCm39) |
V22E |
probably damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,611,552 (GRCm39) |
E642G |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,653,792 (GRCm39) |
V170E |
probably damaging |
Het |
| Mbd6 |
G |
A |
10: 127,122,304 (GRCm39) |
Q175* |
probably null |
Het |
| Mrc1 |
T |
A |
2: 14,321,709 (GRCm39) |
D1067E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,041 (GRCm39) |
H3329R |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,110,114 (GRCm39) |
D1434V |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,124,800 (GRCm39) |
L1785Q |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,670,358 (GRCm39) |
I295T |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,659,364 (GRCm39) |
R751L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,172,699 (GRCm39) |
K1536R |
probably benign |
Het |
| Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
| Or13p3 |
A |
T |
4: 118,566,831 (GRCm39) |
T76S |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,731 (GRCm39) |
D190G |
possibly damaging |
Het |
| Or6c69c |
A |
T |
10: 129,911,067 (GRCm39) |
K263* |
probably null |
Het |
| Parp14 |
A |
C |
16: 35,659,630 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
| Pin1 |
C |
A |
9: 20,566,841 (GRCm39) |
T81N |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,308 (GRCm39) |
I2605T |
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,937,658 (GRCm39) |
|
probably null |
Het |
| Proser3 |
G |
A |
7: 30,248,478 (GRCm39) |
S72L |
probably damaging |
Het |
| Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
| Pwp1 |
T |
A |
10: 85,717,870 (GRCm39) |
N269K |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,665,162 (GRCm39) |
S260P |
probably benign |
Het |
| Ric3 |
A |
G |
7: 108,653,644 (GRCm39) |
L149P |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,010,356 (GRCm39) |
T707A |
|
Het |
| Rnf213 |
A |
C |
11: 119,327,057 (GRCm39) |
R1682S |
|
Het |
| Rpgrip1l |
G |
T |
8: 91,996,809 (GRCm39) |
Y690* |
probably null |
Het |
| Slc29a2 |
A |
G |
19: 5,074,609 (GRCm39) |
T34A |
probably damaging |
Het |
| Slc6a1 |
A |
G |
6: 114,280,974 (GRCm39) |
N176S |
possibly damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,602,552 (GRCm39) |
Y168* |
probably null |
Het |
| Snca |
C |
A |
6: 60,792,675 (GRCm39) |
A78S |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,058,010 (GRCm39) |
D257E |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,083,837 (GRCm39) |
V959A |
probably benign |
Het |
| Stk3 |
A |
C |
15: 35,072,634 (GRCm39) |
I209S |
probably damaging |
Het |
| Thsd7a |
A |
T |
6: 12,555,480 (GRCm39) |
C135S |
|
Het |
| Tlnrd1 |
G |
T |
7: 83,531,582 (GRCm39) |
A283E |
probably benign |
Het |
| Tomm70a |
A |
T |
16: 56,970,259 (GRCm39) |
K546* |
probably null |
Het |
| Trappc9 |
T |
C |
15: 72,808,937 (GRCm39) |
I709V |
probably benign |
Het |
| Trgc3 |
A |
G |
13: 19,446,825 (GRCm39) |
T115A |
probably benign |
Het |
| Trp53rkb |
T |
C |
2: 166,637,700 (GRCm39) |
S219P |
possibly damaging |
Het |
| Ubqlnl |
G |
C |
7: 103,798,592 (GRCm39) |
L302V |
possibly damaging |
Het |
| Uqcc1 |
C |
A |
2: 155,771,995 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
G |
A |
19: 16,672,894 (GRCm39) |
R1293W |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,974,486 (GRCm39) |
S267* |
probably null |
Het |
| Vwa5b1 |
A |
T |
4: 138,318,229 (GRCm39) |
I546N |
probably damaging |
Het |
| Zbtb8b |
A |
T |
4: 129,326,151 (GRCm39) |
M338K |
probably benign |
Het |
| Zfp652 |
C |
T |
11: 95,643,833 (GRCm39) |
R344* |
probably null |
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 |
|
R5137:Trak1
|
UTSW |
9 |
121,196,121 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
R9663:Trak1
|
UTSW |
9 |
121,220,924 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTACCAGCCACTTGAAATC -3'
(R):5'- GACACATCTGTTTGGCTCTCG -3'
Sequencing Primer
(F):5'- GGCTGAGTCTTTCACAAATGTCCG -3'
(R):5'- TGGCTCTCGCTGCTCCG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation