Incidental Mutation 'R0629:Trak1'
| ID |
57764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
038818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R0629 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121196233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 22
(T22S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000209211]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045903
AA Change: T22S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T22S
| 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: ENSMUST00000209211
AA Change: T22S
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
AA Change: T22S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211149
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
100% (66/66) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
T |
17: 45,818,473 (GRCm39) |
D86V |
probably damaging |
Het |
| Adamts14 |
G |
A |
10: 61,047,403 (GRCm39) |
Q733* |
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,370,674 (GRCm39) |
D651G |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,067,041 (GRCm39) |
C52S |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,209,172 (GRCm39) |
S463P |
probably damaging |
Het |
| Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cacna1f |
G |
A |
X: 7,486,673 (GRCm39) |
S888N |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,300,369 (GRCm39) |
C2134R |
possibly damaging |
Het |
| Cdc37 |
A |
C |
9: 21,052,064 (GRCm39) |
M325R |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,778,000 (GRCm39) |
M762L |
probably benign |
Het |
| Cntn3 |
C |
T |
6: 102,180,937 (GRCm39) |
V753M |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,604,364 (GRCm39) |
|
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,632,716 (GRCm39) |
D1194G |
probably damaging |
Het |
| Egfr |
G |
A |
11: 16,819,333 (GRCm39) |
G288S |
probably damaging |
Het |
| Fbxl17 |
G |
T |
17: 63,778,409 (GRCm39) |
N19K |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,785,796 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,930,536 (GRCm39) |
Y219H |
probably damaging |
Het |
| Fuca1 |
T |
C |
4: 135,652,955 (GRCm39) |
V193A |
possibly damaging |
Het |
| Gm7461 |
C |
T |
8: 4,727,769 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
| Iqch |
A |
T |
9: 63,332,664 (GRCm39) |
D1019E |
probably benign |
Het |
| Isyna1 |
A |
G |
8: 71,047,358 (GRCm39) |
Y27C |
probably damaging |
Het |
| Itgb8 |
T |
G |
12: 119,166,216 (GRCm39) |
H105P |
probably benign |
Het |
| Kbtbd11 |
C |
T |
8: 15,077,572 (GRCm39) |
P57L |
probably benign |
Het |
| Kcns3 |
A |
C |
12: 11,142,559 (GRCm39) |
C47G |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,099,895 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,552,302 (GRCm39) |
H418L |
possibly damaging |
Het |
| Lrit3 |
A |
G |
3: 129,581,951 (GRCm39) |
Y679H |
probably damaging |
Het |
| Lrrc19 |
T |
A |
4: 94,526,489 (GRCm39) |
D356V |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,781 (GRCm39) |
M997T |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,888,205 (GRCm39) |
H290R |
possibly damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,645,137 (GRCm39) |
S1886T |
possibly damaging |
Het |
| Muc20 |
T |
C |
16: 32,613,791 (GRCm39) |
T529A |
possibly damaging |
Het |
| Myo7a |
A |
C |
7: 97,734,673 (GRCm39) |
L607R |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,119,783 (GRCm39) |
F180I |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,861,484 (GRCm39) |
E89K |
unknown |
Het |
| Nek2 |
A |
G |
1: 191,563,429 (GRCm39) |
N431S |
probably benign |
Het |
| Oprm1 |
A |
T |
10: 6,782,604 (GRCm39) |
|
probably null |
Het |
| Or2aj4 |
A |
T |
16: 19,384,730 (GRCm39) |
V301E |
possibly damaging |
Het |
| Or5t7 |
T |
A |
2: 86,506,873 (GRCm39) |
H268L |
possibly damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,070,850 (GRCm39) |
|
probably benign |
Het |
| Pasd1 |
G |
C |
X: 70,982,379 (GRCm39) |
R296P |
possibly damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,211,720 (GRCm39) |
|
probably null |
Het |
| Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,976,788 (GRCm39) |
Q7R |
probably benign |
Het |
| Rab3d |
A |
G |
9: 21,825,982 (GRCm39) |
V144A |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,281,467 (GRCm39) |
L167H |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,015,200 (GRCm39) |
T301A |
possibly damaging |
Het |
| Rasgrf1 |
G |
A |
9: 89,866,322 (GRCm39) |
V587M |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,392,433 (GRCm39) |
|
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,480,164 (GRCm39) |
|
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,148,562 (GRCm39) |
S128G |
probably benign |
Het |
| Tbl1xr1 |
G |
A |
3: 22,264,565 (GRCm39) |
V507I |
probably benign |
Het |
| Tmem8b |
T |
G |
4: 43,669,896 (GRCm39) |
|
probably null |
Het |
| Trim30d |
A |
G |
7: 104,136,862 (GRCm39) |
I114T |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,658,474 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
T |
A |
9: 121,489,237 (GRCm39) |
Y99* |
probably null |
Het |
| Vmn1r210 |
T |
C |
13: 23,012,044 (GRCm39) |
K81E |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,744,299 (GRCm39) |
Y841C |
probably benign |
Het |
| Xrcc4 |
A |
G |
13: 90,149,024 (GRCm39) |
|
probably benign |
Het |
| Zdhhc22 |
A |
T |
12: 87,035,071 (GRCm39) |
I127N |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,814,785 (GRCm39) |
L8P |
possibly damaging |
Het |
| Zfp664 |
C |
A |
5: 124,962,659 (GRCm39) |
L18I |
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 |
|
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 |
|
|
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'- TGCCCATCAGAAAGGCTTCTCTCC -3'
(R):5'- TGAGAGTAAGTAGCGTCCAGCTCC -3'
Sequencing Primer
(F):5'- ACGTAATCCACTGTGCGTC -3'
(R):5'- ATCATTCAACACGGTAATTCCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation