Incidental Mutation 'R3889:Trak1'
ID |
310193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trak1
|
Ensembl Gene |
ENSMUSG00000032536 |
Gene Name |
trafficking protein, kinesin binding 1 |
Synonyms |
hyrt, 2310001H13Rik |
MMRRC Submission |
040801-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R3889 (G1)
|
Quality Score |
172 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121274939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 146
(N146S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
AlphaFold |
Q6PD31 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045903
AA Change: N249S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000044482 Gene: ENSMUSG00000032536 AA Change: N249S
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 null
Transcript: ENSMUST00000210351
AA Change: N199S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210351
AA Change: N199S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210636
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210798
AA Change: N146S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210798
AA Change: N146S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211187
AA Change: N239S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211187
AA Change: N239S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
AA Change: N146S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211439
AA Change: N146S
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
Meta Mutation Damage Score |
0.0823 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
94% (51/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
7530416G11Rik |
A |
G |
15: 85,378,292 (GRCm39) |
F117S |
unknown |
Het |
Adamts5 |
A |
G |
16: 85,665,009 (GRCm39) |
W652R |
probably damaging |
Het |
Adamtsl4 |
G |
T |
3: 95,588,167 (GRCm39) |
Q607K |
probably damaging |
Het |
Atm |
T |
C |
9: 53,417,936 (GRCm39) |
|
probably benign |
Het |
Atp6v0a2 |
G |
A |
5: 124,777,203 (GRCm39) |
R168Q |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Baiap2l1 |
T |
C |
5: 144,215,345 (GRCm39) |
T387A |
possibly damaging |
Het |
Cct3 |
A |
T |
3: 88,228,334 (GRCm39) |
Q472L |
probably benign |
Het |
Chd3 |
C |
T |
11: 69,250,011 (GRCm39) |
E623K |
probably damaging |
Het |
Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
Dclre1a |
A |
T |
19: 56,533,752 (GRCm39) |
C263S |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
Elp1 |
G |
A |
4: 56,759,852 (GRCm39) |
R1138C |
probably damaging |
Het |
Epha3 |
A |
G |
16: 63,431,327 (GRCm39) |
F526L |
probably damaging |
Het |
Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
Fat2 |
C |
A |
11: 55,172,589 (GRCm39) |
G2708V |
probably damaging |
Het |
Fgd6 |
G |
A |
10: 93,925,499 (GRCm39) |
E853K |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Fsd1 |
A |
G |
17: 56,300,893 (GRCm39) |
K251E |
probably benign |
Het |
Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
H6pd |
T |
A |
4: 150,080,230 (GRCm39) |
Y197F |
possibly damaging |
Het |
Hip1r |
C |
T |
5: 124,139,854 (GRCm39) |
R986* |
probably null |
Het |
Igkv9-120 |
A |
G |
6: 68,027,362 (GRCm39) |
D92G |
probably damaging |
Het |
Il6 |
A |
G |
5: 30,223,066 (GRCm39) |
K128E |
possibly damaging |
Het |
Irf4 |
T |
C |
13: 30,945,473 (GRCm39) |
|
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Ltbp2 |
A |
G |
12: 84,831,681 (GRCm39) |
|
probably benign |
Het |
Pcmt1 |
C |
T |
10: 7,524,814 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
C |
T |
4: 141,369,301 (GRCm39) |
|
probably benign |
Het |
Prkca |
C |
T |
11: 107,870,066 (GRCm39) |
G450R |
probably damaging |
Het |
Psme3 |
C |
A |
11: 101,210,282 (GRCm39) |
P82T |
probably damaging |
Het |
Rgs11 |
T |
C |
17: 26,426,561 (GRCm39) |
I262T |
probably damaging |
Het |
Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Serpina1e |
A |
T |
12: 103,917,132 (GRCm39) |
V179E |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,380,777 (GRCm39) |
Q685R |
possibly damaging |
Het |
Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
Slc25a45 |
C |
T |
19: 5,930,661 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
Spen |
A |
G |
4: 141,205,192 (GRCm39) |
V1145A |
unknown |
Het |
Stub1 |
T |
C |
17: 26,050,276 (GRCm39) |
|
probably benign |
Het |
Taar8a |
A |
G |
10: 23,952,923 (GRCm39) |
I176V |
probably benign |
Het |
Tacr2 |
G |
A |
10: 62,100,865 (GRCm39) |
C325Y |
probably damaging |
Het |
Tbc1d17 |
T |
A |
7: 44,495,362 (GRCm39) |
H154L |
probably damaging |
Het |
Tll1 |
A |
T |
8: 64,658,258 (GRCm39) |
C54S |
possibly damaging |
Het |
Tpsb2 |
G |
A |
17: 25,586,457 (GRCm39) |
V181I |
probably damaging |
Het |
Vmn1r177 |
T |
C |
7: 23,565,289 (GRCm39) |
I196V |
possibly damaging |
Het |
Zfp820 |
T |
C |
17: 22,037,877 (GRCm39) |
I484V |
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 |
|
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 |
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'- CAGGTGAGGTATGTCTCTGC -3'
(R):5'- ATGGCTCTCGACTCACAAAC -3'
Sequencing Primer
(F):5'- TGTTGAAAGGGATCATACCAGAGCC -3'
(R):5'- TCGACTCACAAACAAGCAAAGGTTG -3'
|
Posted On |
2015-04-17 |