Incidental Mutation 'R6257:Trak1'
| ID |
506404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
044374-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R6257 (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 121275821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 175
(R175C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: R278C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: R278C
| 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 damaging
Transcript: ENSMUST00000210351
AA Change: R228C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210798
AA Change: R175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: R268C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211301
AA Change: R175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211439
AA Change: R175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Meta Mutation Damage Score |
0.7867 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
97% (74/76) |
| 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 |
|---|
| Abcf1 |
A |
T |
17: 36,272,074 (GRCm39) |
N313K |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Adamts6 |
A |
T |
13: 104,598,790 (GRCm39) |
Q877L |
probably benign |
Het |
| Adgre4 |
C |
T |
17: 56,109,133 (GRCm39) |
T380I |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,409,791 (GRCm39) |
|
probably null |
Het |
| Atg16l2 |
A |
G |
7: 100,951,102 (GRCm39) |
|
probably null |
Het |
| Bcl6b |
C |
T |
11: 70,116,878 (GRCm39) |
R467H |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,258,580 (GRCm39) |
|
probably null |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,364 (GRCm39) |
D806G |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,350,946 (GRCm39) |
D501G |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 62,356,769 (GRCm39) |
T736A |
probably benign |
Het |
| Cd164l2 |
T |
A |
4: 132,948,345 (GRCm39) |
C19S |
unknown |
Het |
| Cdk15 |
G |
A |
1: 59,296,264 (GRCm39) |
|
probably null |
Het |
| Cebpz |
T |
C |
17: 79,243,261 (GRCm39) |
E131G |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,893,025 (GRCm39) |
D519G |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Chd1 |
T |
G |
17: 15,950,465 (GRCm39) |
|
probably null |
Het |
| Chil4 |
T |
A |
3: 106,111,412 (GRCm39) |
D234V |
possibly damaging |
Het |
| Cldn16 |
T |
A |
16: 26,300,080 (GRCm39) |
S173T |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,703,496 (GRCm39) |
F456I |
probably benign |
Het |
| Cst8 |
C |
A |
2: 148,647,365 (GRCm39) |
A125E |
probably damaging |
Het |
| Dars2 |
G |
T |
1: 160,869,398 (GRCm39) |
P617Q |
probably damaging |
Het |
| Defb26 |
A |
G |
2: 152,349,860 (GRCm39) |
V140A |
unknown |
Het |
| Dntt |
T |
G |
19: 41,041,501 (GRCm39) |
V395G |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,481,413 (GRCm39) |
|
probably benign |
Het |
| Dscam |
T |
C |
16: 96,474,914 (GRCm39) |
N1216S |
possibly damaging |
Het |
| En1 |
A |
T |
1: 120,531,636 (GRCm39) |
D292V |
unknown |
Het |
| Erbb4 |
A |
T |
1: 68,435,432 (GRCm39) |
L155Q |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,998,796 (GRCm39) |
T197A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,407 (GRCm39) |
F3602L |
probably benign |
Het |
| Fcsk |
A |
T |
8: 111,617,177 (GRCm39) |
C365S |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,533,075 (GRCm39) |
D13V |
unknown |
Het |
| Gm6401 |
T |
C |
14: 41,789,828 (GRCm39) |
Q10R |
probably benign |
Het |
| Gmcl1 |
G |
A |
6: 86,677,623 (GRCm39) |
T410I |
possibly damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| H2-T24 |
T |
A |
17: 36,325,574 (GRCm39) |
T305S |
probably benign |
Het |
| Ksr2 |
A |
T |
5: 117,552,909 (GRCm39) |
M6L |
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,862,895 (GRCm39) |
L2956S |
possibly damaging |
Het |
| Lhfpl3 |
A |
G |
5: 22,951,557 (GRCm39) |
T123A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,486,981 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
G |
A |
16: 87,208,662 (GRCm39) |
A812V |
possibly damaging |
Het |
| Maml2 |
C |
T |
9: 13,531,722 (GRCm39) |
S312L |
probably damaging |
Het |
| Myo7b |
T |
A |
18: 32,146,468 (GRCm39) |
N106Y |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,950,420 (GRCm39) |
C439S |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,570,173 (GRCm39) |
I224T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,440,317 (GRCm39) |
L2303F |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,784,349 (GRCm39) |
|
probably null |
Het |
| Nup155 |
C |
T |
15: 8,180,282 (GRCm39) |
R1120* |
probably null |
Het |
| Oas3 |
C |
A |
5: 120,899,200 (GRCm39) |
|
probably benign |
Het |
| Ocln |
T |
C |
13: 100,676,017 (GRCm39) |
I159V |
probably benign |
Het |
| Or1p1c |
T |
C |
11: 74,160,833 (GRCm39) |
V206A |
probably damaging |
Het |
| Or2t45 |
T |
A |
11: 58,669,829 (GRCm39) |
V292E |
probably damaging |
Het |
| Os9 |
A |
C |
10: 126,955,006 (GRCm39) |
C181G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,437 (GRCm39) |
R1256Q |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,892,195 (GRCm39) |
T208I |
probably benign |
Het |
| Plppr4 |
T |
C |
3: 117,116,228 (GRCm39) |
Q485R |
possibly damaging |
Het |
| Prkcb |
T |
A |
7: 122,167,386 (GRCm39) |
D365E |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,959,639 (GRCm39) |
N45K |
probably damaging |
Het |
| Rbl2 |
T |
C |
8: 91,842,306 (GRCm39) |
L987P |
probably damaging |
Het |
| Runx1 |
T |
A |
16: 92,492,799 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,481,175 (GRCm39) |
Q372K |
probably benign |
Het |
| Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Sri |
T |
A |
5: 8,109,596 (GRCm39) |
|
probably null |
Het |
| St3gal3 |
C |
T |
4: 117,964,875 (GRCm39) |
|
probably benign |
Het |
| Tfpt |
A |
T |
7: 3,632,566 (GRCm39) |
L3* |
probably null |
Het |
| Tgfb3 |
T |
C |
12: 86,124,615 (GRCm39) |
D31G |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,408,987 (GRCm39) |
C678* |
probably null |
Het |
| Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
| Tmem17 |
A |
G |
11: 22,462,297 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,769,113 (GRCm39) |
V769E |
probably damaging |
Het |
| Trim30c |
T |
C |
7: 104,039,375 (GRCm39) |
Y140C |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,699,835 (GRCm39) |
|
probably null |
Het |
| Ubr7 |
T |
A |
12: 102,732,099 (GRCm39) |
C158* |
probably null |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,778 (GRCm39) |
L392F |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,830 (GRCm39) |
D925V |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CACCACTTGGAAAGATGTCCTC -3'
(R):5'- GTTAGTGCCTGAGCTCACTAAG -3'
Sequencing Primer
(F):5'- TGGAAAGATGTCCTCTTCCAC -3'
(R):5'- GCTCACTAAGCCTCCTCCAGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation