Incidental Mutation 'R6354:Trak1'
ID |
512972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trak1
|
Ensembl Gene |
ENSMUSG00000032536 |
Gene Name |
trafficking protein, kinesin binding 1 |
Synonyms |
hyrt, 2310001H13Rik |
MMRRC Submission |
044506-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R6354 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121280792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 384
(T384S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
AlphaFold |
Q6PD31 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045903
AA Change: T394S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044482 Gene: ENSMUSG00000032536 AA Change: T394S
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 null
Transcript: ENSMUST00000210798
AA Change: T291S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211187
AA Change: T384S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
AA Change: T291S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211439
AA Change: T291S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
Meta Mutation Damage Score |
0.0774 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.5%
- 20x: 95.3%
|
Validation Efficiency |
100% (56/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
C |
11: 109,685,042 (GRCm39) |
K152E |
probably benign |
Het |
Adamts20 |
C |
A |
15: 94,245,691 (GRCm39) |
C537F |
probably damaging |
Het |
Apc |
A |
T |
18: 34,445,581 (GRCm39) |
T808S |
probably benign |
Het |
Atad3a |
A |
G |
4: 155,838,402 (GRCm39) |
I205T |
possibly damaging |
Het |
Casz1 |
G |
T |
4: 149,036,999 (GRCm39) |
G1754C |
unknown |
Het |
Ccdc62 |
C |
T |
5: 124,082,267 (GRCm39) |
A232V |
probably damaging |
Het |
Cdc27 |
C |
A |
11: 104,425,574 (GRCm39) |
D81Y |
probably damaging |
Het |
Cep126 |
A |
G |
9: 8,099,928 (GRCm39) |
S869P |
probably damaging |
Het |
Cfap251 |
C |
T |
5: 123,440,818 (GRCm39) |
T1125I |
probably damaging |
Het |
Ciita |
A |
T |
16: 10,341,610 (GRCm39) |
K983N |
probably damaging |
Het |
Cimap1a |
A |
G |
7: 140,430,527 (GRCm39) |
|
probably null |
Het |
Clstn1 |
A |
C |
4: 149,727,673 (GRCm39) |
Q523P |
probably benign |
Het |
Cpb2 |
T |
C |
14: 75,495,145 (GRCm39) |
|
probably null |
Het |
Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
Csmd3 |
C |
T |
15: 47,744,885 (GRCm39) |
G1370D |
probably damaging |
Het |
Cwf19l1 |
G |
T |
19: 44,115,912 (GRCm39) |
D172E |
probably benign |
Het |
Cyp4a14 |
A |
G |
4: 115,344,441 (GRCm39) |
F475L |
probably damaging |
Het |
Fam98c |
C |
T |
7: 28,852,272 (GRCm39) |
V298M |
probably damaging |
Het |
Gcsh |
T |
C |
8: 117,710,582 (GRCm39) |
N127S |
probably benign |
Het |
Gimap4 |
T |
C |
6: 48,663,814 (GRCm39) |
F10S |
possibly damaging |
Het |
Gm4787 |
C |
T |
12: 81,424,755 (GRCm39) |
A468T |
probably damaging |
Het |
Gm5111 |
G |
A |
6: 48,567,268 (GRCm39) |
|
probably benign |
Het |
Gm7137 |
C |
A |
10: 77,623,481 (GRCm39) |
|
probably benign |
Het |
Inpp1 |
A |
G |
1: 52,836,224 (GRCm39) |
S81P |
probably damaging |
Het |
Iqce |
T |
C |
5: 140,662,090 (GRCm39) |
|
probably null |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Krtap13 |
C |
A |
16: 88,548,131 (GRCm39) |
C119F |
probably damaging |
Het |
Lama2 |
G |
T |
10: 27,088,064 (GRCm39) |
D904E |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,355,213 (GRCm39) |
I2535F |
unknown |
Het |
Lrrc40 |
T |
A |
3: 157,766,901 (GRCm39) |
L452* |
probably null |
Het |
Meis1 |
A |
T |
11: 18,966,184 (GRCm39) |
M63K |
possibly damaging |
Het |
Mpo |
T |
A |
11: 87,688,172 (GRCm39) |
I277N |
possibly damaging |
Het |
Mtmr11 |
T |
A |
3: 96,075,992 (GRCm39) |
F406I |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,575,476 (GRCm39) |
S1411P |
probably benign |
Het |
Or2y1b |
A |
T |
11: 49,208,465 (GRCm39) |
I31F |
probably damaging |
Het |
Or4c102 |
T |
A |
2: 88,422,478 (GRCm39) |
I110N |
probably damaging |
Het |
Or56a5 |
G |
A |
7: 104,792,915 (GRCm39) |
T195I |
probably benign |
Het |
Phf21a |
G |
A |
2: 92,179,282 (GRCm39) |
G298R |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,645,477 (GRCm39) |
Y368C |
probably damaging |
Het |
Pik3cb |
G |
T |
9: 98,955,696 (GRCm39) |
T407K |
probably benign |
Het |
Robo3 |
A |
T |
9: 37,328,513 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
T |
G |
5: 113,430,522 (GRCm39) |
T288P |
probably damaging |
Het |
Slc5a7 |
A |
G |
17: 54,584,061 (GRCm39) |
S410P |
probably damaging |
Het |
Tmc6 |
A |
C |
11: 117,665,062 (GRCm39) |
C404G |
probably benign |
Het |
Tnrc6c |
A |
T |
11: 117,640,440 (GRCm39) |
Q1410L |
possibly damaging |
Het |
Txlna |
A |
T |
4: 129,528,205 (GRCm39) |
L244Q |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,868,581 (GRCm39) |
F939L |
probably damaging |
Het |
Vmn2r65 |
T |
A |
7: 84,589,574 (GRCm39) |
I781F |
probably benign |
Het |
Vmn2r72 |
A |
G |
7: 85,399,747 (GRCm39) |
|
probably null |
Het |
Vps36 |
T |
C |
8: 22,695,771 (GRCm39) |
S109P |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,833,666 (GRCm39) |
I82M |
possibly damaging |
Het |
Zbtb49 |
T |
C |
5: 38,360,903 (GRCm39) |
R511G |
possibly damaging |
Het |
Zeb1 |
A |
G |
18: 5,772,743 (GRCm39) |
T1011A |
possibly damaging |
Het |
Zfhx4 |
T |
C |
3: 5,467,011 (GRCm39) |
S2390P |
probably benign |
Het |
Zfp619 |
C |
A |
7: 39,184,243 (GRCm39) |
T91K |
probably benign |
Het |
Zfp644 |
A |
G |
5: 106,784,619 (GRCm39) |
S643P |
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 |
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'- CATGGCTTGGCAGATTCTCTC -3'
(R):5'- TGAGCTCCAGCCTTAGAGAG -3'
Sequencing Primer
(F):5'- TGTATGGCATGAAGTCTGGAGAC -3'
(R):5'- TCCAGCCTTAGAGAGATGTCACTG -3'
|
Posted On |
2018-04-27 |