Incidental Mutation 'R7396:Trak1'
| ID |
573831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
045478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R7396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121277973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 353
(T353M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045903
AA Change: T353M
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T353M
| 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: ENSMUST00000210351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210798
AA Change: T250M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: T343M
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211301
AA Change: T250M
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211439
AA Change: T250M
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (79/79) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830403N18Rik |
G |
T |
X: 55,184,140 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,831,609 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,351,722 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Acsm3 |
T |
A |
7: 119,373,052 (GRCm39) |
L185H |
probably damaging |
Het |
| Actr1a |
G |
A |
19: 46,368,068 (GRCm39) |
T293I |
probably benign |
Het |
| Adig |
T |
C |
2: 158,347,836 (GRCm39) |
L50P |
unknown |
Het |
| Ankrd28 |
A |
G |
14: 31,424,159 (GRCm39) |
S994P |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,590,813 (GRCm39) |
D366E |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,950,427 (GRCm39) |
Y927* |
probably null |
Het |
| Asxl2 |
T |
A |
12: 3,492,529 (GRCm39) |
I38N |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,780,057 (GRCm39) |
I1092V |
|
Het |
| B4galnt1 |
A |
G |
10: 127,007,485 (GRCm39) |
E462G |
possibly damaging |
Het |
| BC048671 |
T |
A |
6: 90,280,273 (GRCm39) |
V63E |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,988,889 (GRCm39) |
V406A |
probably damaging |
Het |
| Btn1a1 |
T |
G |
13: 23,645,668 (GRCm39) |
I234L |
probably benign |
Het |
| Camk2b |
A |
C |
11: 5,928,432 (GRCm39) |
S436A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,870,374 (GRCm39) |
|
probably null |
Het |
| Ces1b |
G |
T |
8: 93,789,757 (GRCm39) |
N390K |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,927 (GRCm39) |
Q671R |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,524 (GRCm39) |
S523R |
|
Het |
| Dbr1 |
C |
A |
9: 99,465,443 (GRCm39) |
N340K |
probably damaging |
Het |
| Dram1 |
T |
A |
10: 88,176,507 (GRCm39) |
T73S |
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,817,501 (GRCm39) |
R39S |
possibly damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,324,887 (GRCm39) |
I515S |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,094,111 (GRCm39) |
N434I |
probably benign |
Het |
| Ercc6 |
C |
T |
14: 32,291,762 (GRCm39) |
T1042I |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,803,449 (GRCm39) |
P1057L |
possibly damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,278,091 (GRCm39) |
N29I |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,954 (GRCm39) |
D344G |
probably benign |
Het |
| Fgf15 |
G |
T |
7: 144,453,542 (GRCm39) |
V172L |
probably benign |
Het |
| Fmod |
T |
C |
1: 133,967,978 (GRCm39) |
V6A |
probably benign |
Het |
| Furin |
C |
A |
7: 80,047,862 (GRCm39) |
R86L |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,160,207 (GRCm39) |
V297A |
probably damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Helb |
T |
C |
10: 119,925,476 (GRCm39) |
D967G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,439,382 (GRCm39) |
T5601A |
possibly damaging |
Het |
| Hsbp1l1 |
G |
T |
18: 80,276,634 (GRCm39) |
P70Q |
not run |
Het |
| Hsd17b1 |
T |
C |
11: 100,970,033 (GRCm39) |
V155A |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,617 (GRCm39) |
M97K |
possibly damaging |
Het |
| Kcnj6 |
C |
A |
16: 94,563,306 (GRCm39) |
L397F |
probably benign |
Het |
| Lcorl |
A |
T |
5: 46,014,801 (GRCm39) |
|
probably null |
Het |
| Lgi2 |
A |
T |
5: 52,695,753 (GRCm39) |
I402N |
probably damaging |
Het |
| Lrat |
T |
A |
3: 82,810,590 (GRCm39) |
R144* |
probably null |
Het |
| Mfhas1 |
G |
T |
8: 36,057,353 (GRCm39) |
L609F |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,495,994 (GRCm39) |
I398K |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,362,152 (GRCm39) |
D1821V |
unknown |
Het |
| Myh2 |
T |
C |
11: 67,085,554 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,234,044 (GRCm39) |
E386G |
probably damaging |
Het |
| Ndufaf3 |
C |
T |
9: 108,443,802 (GRCm39) |
V76M |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,891 (GRCm39) |
T128A |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,765,615 (GRCm39) |
D59E |
probably benign |
Het |
| Or2j6 |
C |
T |
7: 139,980,476 (GRCm39) |
R161H |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,477 (GRCm39) |
V205A |
probably benign |
Het |
| Or52n2b |
C |
T |
7: 104,565,558 (GRCm39) |
S315N |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,522 (GRCm39) |
V1513D |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,589,902 (GRCm39) |
T734K |
unknown |
Het |
| Phc2 |
A |
G |
4: 128,641,954 (GRCm39) |
R759G |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,375 (GRCm39) |
N1176K |
probably benign |
Het |
| Plec |
T |
A |
15: 76,059,089 (GRCm39) |
Y3616F |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,282,707 (GRCm39) |
T426N |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,816,462 (GRCm39) |
T1245A |
not run |
Het |
| Rilp |
T |
C |
11: 75,401,712 (GRCm39) |
V164A |
probably damaging |
Het |
| Rnf39 |
A |
T |
17: 37,257,971 (GRCm39) |
T168S |
probably damaging |
Het |
| Rptor |
C |
G |
11: 119,763,181 (GRCm39) |
Q922E |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,396 (GRCm39) |
L236Q |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,845,324 (GRCm39) |
T379A |
probably benign |
Het |
| Spata22 |
C |
A |
11: 73,236,702 (GRCm39) |
T336N |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,547 (GRCm39) |
S232P |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,110,722 (GRCm39) |
C98S |
possibly damaging |
Het |
| Stard6 |
T |
C |
18: 70,633,506 (GRCm39) |
V171A |
possibly damaging |
Het |
| Tex9 |
A |
T |
9: 72,388,072 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,728,519 (GRCm39) |
D621G |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,327,569 (GRCm39) |
Y461* |
probably null |
Het |
| Usp1 |
A |
G |
4: 98,814,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,641 (GRCm39) |
I502F |
probably benign |
Het |
| Wbp4 |
C |
A |
14: 79,714,261 (GRCm39) |
G84C |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp787 |
A |
G |
7: 6,135,106 (GRCm39) |
*382Q |
probably null |
Het |
| Zfp831 |
G |
T |
2: 174,487,002 (GRCm39) |
C559F |
possibly damaging |
Het |
| Zgpat |
G |
C |
2: 181,007,882 (GRCm39) |
A140P |
probably benign |
Het |
| Zscan4e |
T |
A |
7: 11,041,002 (GRCm39) |
Y290F |
probably benign |
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 |
|
|
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 |
PCR Primer
(F):5'- AAAGCCAGCCTTGTGGATCC -3'
(R):5'- TGCAAACTTTAAAGAAGCAAGCAGC -3'
Sequencing Primer
(F):5'- AGCCTTGTGGATCCAACCC -3'
(R):5'- CTCGCAGGAAAGATGTAGGACC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation