Incidental Mutation 'R4031:Trak1'
ID |
313500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trak1
|
Ensembl Gene |
ENSMUSG00000032536 |
Gene Name |
trafficking protein, kinesin binding 1 |
Synonyms |
hyrt, 2310001H13Rik |
MMRRC Submission |
040960-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R4031 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121280736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 272
(I272T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
AlphaFold |
Q6PD31 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: I375T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044482 Gene: ENSMUSG00000032536 AA Change: I375T
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: ENSMUST00000210351
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210798
AA Change: I272T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: I365T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211301
AA Change: I272T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211439
AA Change: I272T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
Meta Mutation Damage Score |
0.8796 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
95% (52/55) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
G |
T |
8: 87,244,077 (GRCm39) |
F1025L |
probably damaging |
Het |
Acss2 |
C |
T |
2: 155,399,130 (GRCm39) |
T477I |
probably damaging |
Het |
Aplp2 |
G |
A |
9: 31,069,026 (GRCm39) |
P601L |
probably benign |
Het |
Arl2bp |
T |
C |
8: 95,394,281 (GRCm39) |
I32T |
probably damaging |
Het |
Avpi1 |
C |
A |
19: 42,113,180 (GRCm39) |
|
probably benign |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Ccdc150 |
T |
A |
1: 54,317,970 (GRCm39) |
M303K |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Copa |
T |
C |
1: 171,935,942 (GRCm39) |
V428A |
probably damaging |
Het |
Crybb3 |
A |
G |
5: 113,227,735 (GRCm39) |
Y29H |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,622,361 (GRCm39) |
I1031T |
probably benign |
Het |
Elf1 |
A |
C |
14: 79,806,723 (GRCm39) |
K161Q |
probably damaging |
Het |
Fndc1 |
A |
T |
17: 7,988,584 (GRCm39) |
Y1159* |
probably null |
Het |
Hspa12a |
T |
C |
19: 58,789,289 (GRCm39) |
N449S |
probably benign |
Het |
Hyal4 |
A |
G |
6: 24,756,223 (GRCm39) |
E147G |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,336,679 (GRCm39) |
I5152T |
probably benign |
Het |
Ighv9-1 |
C |
T |
12: 114,057,844 (GRCm39) |
A19T |
probably benign |
Het |
Kcnt1 |
T |
G |
2: 25,806,060 (GRCm39) |
S1216R |
possibly damaging |
Het |
Kdm5d |
T |
A |
Y: 916,910 (GRCm39) |
V435E |
probably damaging |
Het |
Klhl30 |
G |
A |
1: 91,288,879 (GRCm39) |
R546H |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,592,860 (GRCm39) |
G3753D |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,275,105 (GRCm39) |
L6303P |
probably damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,208 (GRCm39) |
S195P |
possibly damaging |
Het |
Mindy3 |
A |
C |
2: 12,405,894 (GRCm39) |
|
probably null |
Het |
Neurod1 |
C |
T |
2: 79,284,370 (GRCm39) |
D338N |
probably benign |
Het |
Polr1e |
A |
T |
4: 45,018,685 (GRCm39) |
E5V |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
Ppp2r2a |
T |
C |
14: 67,266,425 (GRCm39) |
S79G |
probably damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Rap1gds1 |
T |
C |
3: 138,756,353 (GRCm39) |
|
probably benign |
Het |
Rsph10b |
A |
G |
5: 143,922,486 (GRCm39) |
|
probably null |
Het |
Slc26a10 |
A |
G |
10: 127,013,871 (GRCm39) |
V297A |
possibly damaging |
Het |
Slc26a5 |
T |
C |
5: 22,052,189 (GRCm39) |
K47E |
probably damaging |
Het |
Slurp1 |
T |
C |
15: 74,599,336 (GRCm39) |
E58G |
probably damaging |
Het |
Spo11 |
T |
A |
2: 172,828,625 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
C |
2: 153,040,264 (GRCm39) |
|
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,039,018 (GRCm39) |
S671T |
possibly damaging |
Het |
Usp43 |
G |
T |
11: 67,804,659 (GRCm39) |
A186D |
probably damaging |
Het |
Vmn2r107 |
G |
A |
17: 20,595,483 (GRCm39) |
V679I |
probably benign |
Het |
Vsig10l |
C |
T |
7: 43,114,798 (GRCm39) |
A333V |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,367,455 (GRCm39) |
|
probably null |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,928,029 (GRCm39) |
T1141A |
probably damaging |
Het |
Zfp236 |
T |
A |
18: 82,642,590 (GRCm39) |
E1052V |
probably damaging |
Het |
Zfp317 |
A |
T |
9: 19,558,008 (GRCm39) |
H163L |
possibly damaging |
Het |
Zfp975 |
G |
A |
7: 42,312,377 (GRCm39) |
Q79* |
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 |
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'- TGTGCTCAGAACTTGCCCTG -3'
(R):5'- CTTAACCTGACAGGGAAGGACC -3'
Sequencing Primer
(F):5'- TCAGAACTTGCCCTGGCCATG -3'
(R):5'- CAGGGAAGGACCATGGCTG -3'
|
Posted On |
2015-04-30 |