Incidental Mutation 'R2119:Trak1'
| ID |
231298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
040123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R2119 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 121302063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 940
(*940R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211301]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045903
AA Change: *940R
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: *940R
| 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: ENSMUST00000210798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
| Meta Mutation Damage Score |
0.9578 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
| Actbl2 |
G |
A |
13: 111,391,694 (GRCm39) |
V10I |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
| Aifm2 |
G |
A |
10: 61,571,383 (GRCm39) |
V306M |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
| Atxn7l3 |
C |
A |
11: 102,182,807 (GRCm39) |
R278L |
possibly damaging |
Het |
| Bcl9 |
A |
G |
3: 97,116,231 (GRCm39) |
L821P |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,847,320 (GRCm39) |
V430I |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,363,111 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
A |
1: 45,385,281 (GRCm39) |
C133S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 17,266,749 (GRCm39) |
T59I |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,438 (GRCm39) |
D62E |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,196,075 (GRCm39) |
M428L |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,323,976 (GRCm39) |
Y523* |
probably null |
Het |
| Dlgap2 |
C |
T |
8: 14,828,206 (GRCm39) |
A538V |
possibly damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,129,982 (GRCm39) |
S919P |
probably benign |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,243,209 (GRCm39) |
H81Q |
probably benign |
Het |
| Dusp8 |
A |
T |
7: 141,636,298 (GRCm39) |
S431T |
possibly damaging |
Het |
| Dync1i1 |
A |
T |
6: 5,767,096 (GRCm39) |
T59S |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
| Eef1d |
G |
T |
15: 75,775,062 (GRCm39) |
A199E |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,911,718 (GRCm39) |
|
probably null |
Het |
| Enah |
G |
T |
1: 181,749,318 (GRCm39) |
A138E |
probably damaging |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Gba1 |
A |
T |
3: 89,112,868 (GRCm39) |
E170V |
probably benign |
Het |
| Hdac1 |
C |
T |
4: 129,416,157 (GRCm39) |
R212Q |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,447,527 (GRCm39) |
L1740Q |
probably null |
Het |
| Inhbb |
T |
A |
1: 119,348,431 (GRCm39) |
H129L |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,691,662 (GRCm39) |
H862Q |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,025 (GRCm39) |
R1372S |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,755,193 (GRCm39) |
T163S |
probably benign |
Het |
| Lmo3 |
A |
T |
6: 138,393,492 (GRCm39) |
C43S |
probably damaging |
Het |
| Metrn |
C |
T |
17: 26,014,197 (GRCm39) |
V210I |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 79,252,442 (GRCm39) |
I284F |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Or10a5 |
A |
G |
7: 106,635,938 (GRCm39) |
D192G |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,946,905 (GRCm39) |
S403P |
probably benign |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
| Reln |
T |
A |
5: 22,223,998 (GRCm39) |
E917V |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,943,314 (GRCm39) |
V61E |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,811,993 (GRCm39) |
|
probably null |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
| Serhl |
A |
G |
15: 82,999,776 (GRCm39) |
Q252R |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,042,867 (GRCm39) |
D229G |
probably benign |
Het |
| Slc35g1 |
T |
C |
19: 38,391,735 (GRCm39) |
V339A |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,034,743 (GRCm39) |
|
probably null |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tep1 |
T |
G |
14: 51,076,443 (GRCm39) |
K1664Q |
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,493,377 (GRCm39) |
K193E |
possibly damaging |
Het |
| Ttc5 |
A |
T |
14: 51,012,822 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,430 (GRCm39) |
M198K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,318,297 (GRCm39) |
H66R |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,303,451 (GRCm39) |
D2487E |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,740,311 (GRCm39) |
G205R |
probably damaging |
Het |
| Vps11 |
T |
C |
9: 44,260,294 (GRCm39) |
D856G |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,817,909 (GRCm39) |
N90D |
possibly damaging |
Het |
| Zfp105 |
T |
A |
9: 122,758,743 (GRCm39) |
L138* |
probably null |
Het |
| Zfp28 |
A |
G |
7: 6,397,875 (GRCm39) |
Y770C |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,594 (GRCm39) |
L484Q |
probably damaging |
Het |
| Zfp868 |
C |
A |
8: 70,064,646 (GRCm39) |
E230* |
probably null |
Het |
| Zfpm2 |
A |
G |
15: 40,966,419 (GRCm39) |
Y836C |
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 |
|
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 |
|
|
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'- TATCCCCACCTTGACTGAGGAAC -3'
(R):5'- AAGGTCCCCAAGTCCTGTATAC -3'
Sequencing Primer
(F):5'- AACAGGGACCTCTCCTCTGTG -3'
(R):5'- GTCCTGTATACACACCATATGGAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation