Incidental Mutation 'R7299:Trak1'
| ID |
590980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
045403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R7299 (G1)
|
| Quality Score |
122.008 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
splice site (136 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 121280929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045903
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
| 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 null
Transcript: ENSMUST00000210798
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211439
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
99% (71/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
C |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,244,649 (GRCm39) |
N2171Y |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 45,754,922 (GRCm39) |
T1532I |
possibly damaging |
Het |
| Abtb2 |
A |
T |
2: 103,532,769 (GRCm39) |
|
probably null |
Het |
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Agk |
A |
T |
6: 40,306,451 (GRCm39) |
T7S |
possibly damaging |
Het |
| Akap9 |
C |
A |
5: 4,082,696 (GRCm39) |
T1940K |
probably damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,729,956 (GRCm39) |
T482A |
unknown |
Het |
| Cd2ap |
G |
A |
17: 43,140,904 (GRCm39) |
R212* |
probably null |
Het |
| Cenpt |
G |
A |
8: 106,576,536 (GRCm39) |
Q45* |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,762,775 (GRCm39) |
I246M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,586 (GRCm39) |
I74T |
probably damaging |
Het |
| Cog6 |
T |
C |
3: 52,909,928 (GRCm39) |
S275G |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,422,055 (GRCm39) |
D2797E |
|
Het |
| Ddx24 |
A |
G |
12: 103,385,709 (GRCm39) |
M298T |
possibly damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,910,019 (GRCm39) |
S185T |
probably benign |
Het |
| Ergic2 |
T |
A |
6: 148,089,610 (GRCm39) |
Y249F |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,690,006 (GRCm39) |
M182K |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,351,847 (GRCm39) |
E1126G |
probably damaging |
Het |
| Gabrr2 |
T |
A |
4: 33,095,284 (GRCm39) |
M391K |
probably benign |
Het |
| Gap43 |
T |
C |
16: 42,112,615 (GRCm39) |
K49E |
probably damaging |
Het |
| Gata4 |
T |
A |
14: 63,441,191 (GRCm39) |
T276S |
probably damaging |
Het |
| Gca |
C |
T |
2: 62,520,320 (GRCm39) |
P160L |
probably benign |
Het |
| Ghdc |
C |
T |
11: 100,658,942 (GRCm39) |
V397I |
possibly damaging |
Het |
| Gm3409 |
T |
A |
5: 146,476,357 (GRCm39) |
D169E |
probably benign |
Het |
| Gtf3c3 |
G |
A |
1: 54,456,867 (GRCm39) |
P511L |
probably benign |
Het |
| Hal |
T |
C |
10: 93,328,423 (GRCm39) |
V233A |
probably benign |
Het |
| Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,166,196 (GRCm39) |
N112D |
probably benign |
Het |
| Klhl38 |
G |
A |
15: 58,186,376 (GRCm39) |
R118W |
probably damaging |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,132 (GRCm39) |
Y163C |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,082,007 (GRCm39) |
D44G |
probably benign |
Het |
| Mob1a |
G |
A |
6: 83,315,431 (GRCm39) |
|
probably null |
Het |
| Mst1r |
G |
T |
9: 107,791,989 (GRCm39) |
A842S |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,403,419 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,970 (GRCm39) |
D230V |
possibly damaging |
Het |
| Nppb |
T |
C |
4: 148,070,780 (GRCm39) |
S52P |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,222,635 (GRCm39) |
K545E |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or1s2 |
G |
A |
19: 13,758,688 (GRCm39) |
W235* |
probably null |
Het |
| Pcdha3 |
G |
A |
18: 37,079,977 (GRCm39) |
E240K |
possibly damaging |
Het |
| Podxl |
G |
T |
6: 31,501,371 (GRCm39) |
P395T |
probably damaging |
Het |
| Prr5l |
T |
A |
2: 101,547,631 (GRCm39) |
D298V |
probably damaging |
Het |
| Ptpro |
G |
A |
6: 137,418,142 (GRCm39) |
|
probably null |
Het |
| Rad9b |
A |
G |
5: 122,490,677 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,047,885 (GRCm39) |
K365R |
probably benign |
Het |
| Reep1 |
A |
T |
6: 71,738,373 (GRCm39) |
I44L |
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,908,984 (GRCm39) |
I1034T |
possibly damaging |
Het |
| Rtn4ip1 |
T |
C |
10: 43,812,016 (GRCm39) |
Y338H |
probably damaging |
Het |
| Shisa5 |
G |
T |
9: 108,883,952 (GRCm39) |
|
probably benign |
Het |
| Snx24 |
G |
T |
18: 53,473,244 (GRCm39) |
V63F |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,046,587 (GRCm39) |
Q3515* |
probably null |
Het |
| Tfap2a |
T |
C |
13: 40,874,784 (GRCm39) |
K276E |
probably damaging |
Het |
| Tmem158 |
C |
A |
9: 123,089,366 (GRCm39) |
S82I |
probably damaging |
Het |
| Tmem263 |
T |
A |
10: 84,950,261 (GRCm39) |
|
probably null |
Het |
| Tmtc3 |
G |
T |
10: 100,283,336 (GRCm39) |
H740N |
not run |
Het |
| Tnrc6a |
A |
C |
7: 122,770,136 (GRCm39) |
N642T |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,638,974 (GRCm39) |
F559I |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,225,048 (GRCm39) |
I799T |
possibly damaging |
Het |
| Ttc7 |
T |
C |
17: 87,653,970 (GRCm39) |
I549T |
possibly damaging |
Het |
| Tysnd1 |
C |
A |
10: 61,532,328 (GRCm39) |
P327T |
possibly damaging |
Het |
| Ulk4 |
T |
A |
9: 120,974,125 (GRCm39) |
D969V |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,853,385 (GRCm39) |
Y525F |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,975 (GRCm39) |
S202N |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,878 (GRCm39) |
I64M |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,782,746 (GRCm39) |
F728S |
probably damaging |
Het |
| Zfp280b |
C |
G |
10: 75,874,537 (GRCm39) |
Q139E |
probably damaging |
Het |
| Zfp322a |
C |
A |
13: 23,541,313 (GRCm39) |
G143V |
probably damaging |
Het |
| Zfp322a |
C |
T |
13: 23,541,314 (GRCm39) |
G143S |
probably benign |
Het |
| Zfp418 |
T |
A |
7: 7,185,827 (GRCm39) |
C597S |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,716,669 (GRCm39) |
T190A |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,329,758 (GRCm39) |
V476D |
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 |
|
|
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'- AACTATGCGCAAGGAGCTGC -3'
(R):5'- CCACTCCCTGGAAATTCATCAG -3'
Sequencing Primer
(F):5'- CAGAACCGGTGCTCATAA -3'
(R):5'- TCCCTGGAAATTCATCAGGTAAC -3'
|
| Posted On |
2019-10-28 |
Incidental Mutation