Incidental Mutation 'R7999:Trak1'
| ID |
616272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
046039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R7999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121289491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 601
(R601H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: R601H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: R601H
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210798
AA Change: R498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: R591H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211301
AA Change: R498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,841,580 (GRCm39) |
E289G |
probably benign |
Het |
| Armc2 |
C |
T |
10: 41,887,954 (GRCm39) |
E10K |
possibly damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,569,348 (GRCm39) |
|
probably null |
Het |
| B3galnt1 |
A |
G |
3: 69,482,548 (GRCm39) |
C238R |
probably damaging |
Het |
| Bak1 |
A |
G |
17: 27,240,280 (GRCm39) |
L129P |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,195,404 (GRCm39) |
F1272L |
possibly damaging |
Het |
| C2cd3 |
G |
A |
7: 100,109,096 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
T |
2: 24,540,638 (GRCm39) |
V1363E |
probably damaging |
Het |
| Capn11 |
T |
C |
17: 45,950,132 (GRCm39) |
N344S |
probably damaging |
Het |
| Ces1f |
A |
T |
8: 93,989,623 (GRCm39) |
V431E |
possibly damaging |
Het |
| Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
| Defa29 |
A |
T |
8: 21,816,859 (GRCm39) |
S45T |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,579,372 (GRCm39) |
V753L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,802,322 (GRCm39) |
D32G |
probably benign |
Het |
| Dnajc24 |
T |
A |
2: 105,811,365 (GRCm39) |
N70I |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,113,948 (GRCm39) |
V1195I |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,561 (GRCm39) |
R1023S |
probably benign |
Het |
| Ephx4 |
A |
T |
5: 107,567,699 (GRCm39) |
Q219L |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,993,204 (GRCm39) |
T1226A |
probably benign |
Het |
| Eppk1 |
T |
C |
15: 75,993,335 (GRCm39) |
Q1182R |
probably benign |
Het |
| Fiz1 |
A |
T |
7: 5,011,997 (GRCm39) |
S174T |
probably benign |
Het |
| Ggnbp1 |
C |
T |
17: 27,248,619 (GRCm39) |
R63C |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gsdmd |
T |
A |
15: 75,735,295 (GRCm39) |
I13N |
probably damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,037,322 (GRCm39) |
D292G |
probably damaging |
Het |
| Hnf1a |
A |
T |
5: 115,098,233 (GRCm39) |
L123* |
probably null |
Het |
| Ints11 |
A |
G |
4: 155,971,413 (GRCm39) |
D309G |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,874,407 (GRCm39) |
S789P |
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,696,398 (GRCm39) |
A517V |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,174,935 (GRCm39) |
Y270H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,276,199 (GRCm39) |
S1767P |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,361,537 (GRCm39) |
D238G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,059,449 (GRCm39) |
W259R |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,119,879 (GRCm39) |
D250N |
probably benign |
Het |
| Mre11a |
A |
T |
9: 14,710,965 (GRCm39) |
R49* |
probably null |
Het |
| Mug1 |
T |
C |
6: 121,857,855 (GRCm39) |
L1116P |
possibly damaging |
Het |
| Mup9 |
A |
G |
4: 60,374,202 (GRCm39) |
S234P |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,914 (GRCm39) |
F222L |
possibly damaging |
Het |
| Nr2e3 |
A |
G |
9: 59,856,282 (GRCm39) |
V85A |
probably damaging |
Het |
| Or4a79 |
A |
G |
2: 89,552,344 (GRCm39) |
I37T |
probably benign |
Het |
| Prl3d2 |
A |
G |
13: 27,307,949 (GRCm39) |
T77A |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,381,042 (GRCm39) |
M1K |
probably null |
Het |
| Prrc2b |
C |
T |
2: 32,084,426 (GRCm39) |
T297M |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,681,805 (GRCm39) |
F48S |
probably benign |
Het |
| Rbm24 |
A |
T |
13: 46,572,507 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ren1 |
C |
A |
1: 133,282,604 (GRCm39) |
T103K |
probably damaging |
Het |
| Rpf2 |
C |
T |
10: 40,099,880 (GRCm39) |
G260S |
probably damaging |
Het |
| Sall4 |
C |
T |
2: 168,594,561 (GRCm39) |
G862D |
probably damaging |
Het |
| Samd4 |
G |
T |
14: 47,301,704 (GRCm39) |
R336L |
probably damaging |
Het |
| Shoc1 |
G |
C |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,913,083 (GRCm39) |
N1611S |
probably benign |
Het |
| Skil |
A |
G |
3: 31,151,751 (GRCm39) |
H91R |
possibly damaging |
Het |
| Snip1 |
T |
C |
4: 124,965,174 (GRCm39) |
V193A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,663 (GRCm39) |
I87N |
probably damaging |
Het |
| Syna |
T |
C |
5: 134,588,046 (GRCm39) |
H301R |
probably benign |
Het |
| Tdg |
A |
G |
10: 82,477,216 (GRCm39) |
K89R |
possibly damaging |
Het |
| Tdrd7 |
G |
A |
4: 46,010,902 (GRCm39) |
|
probably null |
Het |
| Triobp |
T |
C |
15: 78,844,144 (GRCm39) |
L120P |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,606,250 (GRCm39) |
N1697K |
probably benign |
Het |
| Uts2r |
G |
A |
11: 121,051,495 (GRCm39) |
V120M |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,696,256 (GRCm39) |
L162P |
probably damaging |
Het |
| Zbtb17 |
G |
A |
4: 141,189,134 (GRCm39) |
R18Q |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,138 (GRCm39) |
C90* |
probably null |
Het |
| Zfp605 |
T |
A |
5: 110,276,300 (GRCm39) |
C473S |
probably damaging |
Het |
| Zfp764l1 |
T |
A |
7: 126,991,600 (GRCm39) |
S117C |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,356 (GRCm39) |
Y86N |
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 |
|
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 |
|
|
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'- ACAATCCTTTGCAAGCTCGG -3'
(R):5'- TGAGACAGTCACACGTGCTC -3'
Sequencing Primer
(F):5'- CTTTGCAAGCTCGGGTGAC -3'
(R):5'- AGTCACACGTGCTCGAGAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation