Incidental Mutation 'R6513:Trak1'
| ID |
520014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
044640-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R6513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121272822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 237
(R237C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000209995]
[ENSMUST00000210351]
[ENSMUST00000210636]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably benign
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: ENSMUST00000209995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210636
AA Change: R237C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (62/63) |
| 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 |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,654 (GRCm39) |
S161G |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,616,919 (GRCm39) |
V2290A |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,252,212 (GRCm39) |
N29S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,891,379 (GRCm39) |
R592G |
possibly damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,640 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cabp1 |
T |
A |
5: 115,307,193 (GRCm39) |
M165L |
possibly damaging |
Het |
| Calhm4 |
T |
A |
10: 33,917,630 (GRCm39) |
R274* |
probably null |
Het |
| Cep72 |
A |
T |
13: 74,206,582 (GRCm39) |
L73H |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,525,743 (GRCm39) |
S731G |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,179,295 (GRCm39) |
I258V |
probably benign |
Het |
| Dsg1c |
T |
G |
18: 20,407,687 (GRCm39) |
N344K |
probably benign |
Het |
| Enah |
A |
G |
1: 181,841,920 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,225,591 (GRCm39) |
S554C |
probably damaging |
Het |
| Fkrp |
C |
A |
7: 16,545,037 (GRCm39) |
R275L |
possibly damaging |
Het |
| Gbp4 |
C |
T |
5: 105,270,986 (GRCm39) |
G215D |
possibly damaging |
Het |
| Gli2 |
G |
A |
1: 118,783,284 (GRCm39) |
L239F |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,573 (GRCm39) |
D125G |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,494,259 (GRCm39) |
|
probably null |
Het |
| Invs |
G |
A |
4: 48,397,534 (GRCm39) |
V370I |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,302 (GRCm39) |
V1040A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,434 (GRCm39) |
V1059D |
possibly damaging |
Het |
| Kif26a |
T |
A |
12: 112,141,926 (GRCm39) |
S727T |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,410,813 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
G |
7: 43,705,169 (GRCm39) |
H112R |
probably benign |
Het |
| Krt72 |
T |
G |
15: 101,685,187 (GRCm39) |
|
probably null |
Het |
| Lactb |
C |
T |
9: 66,878,172 (GRCm39) |
R219H |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,373,045 (GRCm39) |
I612N |
probably damaging |
Het |
| Meaf6 |
A |
C |
4: 124,983,697 (GRCm39) |
N51T |
probably damaging |
Het |
| Mtap |
A |
G |
4: 89,066,498 (GRCm39) |
T36A |
possibly damaging |
Het |
| Myo3a |
G |
A |
2: 22,412,143 (GRCm39) |
G713S |
probably damaging |
Het |
| Nr4a3 |
C |
T |
4: 48,083,255 (GRCm39) |
T596I |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,224 (GRCm39) |
C172* |
probably null |
Het |
| Or4f14 |
C |
G |
2: 111,743,228 (GRCm39) |
G16R |
possibly damaging |
Het |
| Pam |
A |
G |
1: 97,765,752 (GRCm39) |
V759A |
possibly damaging |
Het |
| Pcare |
T |
A |
17: 72,051,701 (GRCm39) |
E1217V |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,772,944 (GRCm39) |
I1220F |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,568,240 (GRCm39) |
M1222L |
possibly damaging |
Het |
| Phospho1 |
C |
T |
11: 95,721,513 (GRCm39) |
A61V |
possibly damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,906,550 (GRCm39) |
V638I |
possibly damaging |
Het |
| Pramel34 |
C |
A |
5: 93,785,391 (GRCm39) |
|
probably null |
Het |
| Ptf1a |
T |
A |
2: 19,451,848 (GRCm39) |
D282E |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,975,879 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,522,156 (GRCm39) |
R471G |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,303,419 (GRCm39) |
S251P |
possibly damaging |
Het |
| Shcbp1 |
T |
C |
8: 4,794,507 (GRCm39) |
M429V |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,062,637 (GRCm39) |
L1248P |
probably damaging |
Het |
| Son |
T |
C |
16: 91,456,835 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,233,995 (GRCm39) |
L355P |
probably damaging |
Het |
| Tbc1d31 |
A |
T |
15: 57,818,778 (GRCm39) |
R794W |
probably damaging |
Het |
| Telo2 |
T |
C |
17: 25,320,386 (GRCm39) |
Y766C |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,793 (GRCm39) |
|
probably null |
Het |
| Tle4 |
T |
C |
19: 14,429,056 (GRCm39) |
D722G |
probably damaging |
Het |
| Tprg1l |
A |
G |
4: 154,243,862 (GRCm39) |
V98A |
probably benign |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,715 (GRCm39) |
I833T |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,915,093 (GRCm39) |
S518C |
probably damaging |
Het |
| Vmn2r49 |
A |
G |
7: 9,710,524 (GRCm39) |
I736T |
probably damaging |
Het |
| Wdr38 |
T |
A |
2: 38,889,970 (GRCm39) |
|
probably null |
Het |
| Wee2 |
A |
G |
6: 40,429,553 (GRCm39) |
E180G |
probably benign |
Het |
| Zbtb1 |
T |
C |
12: 76,432,604 (GRCm39) |
S197P |
possibly damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,976,629 (GRCm39) |
|
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,973,835 (GRCm39) |
L11Q |
probably damaging |
Het |
| Zfp623 |
G |
A |
15: 75,819,317 (GRCm39) |
R91H |
probably benign |
Het |
| Zkscan7 |
G |
A |
9: 122,725,170 (GRCm39) |
R713Q |
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 |
|
|
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'- CTAAGGTGGCTCAGGTGACAAG -3'
(R):5'- ACAATCACCCTAGCCTTCGG -3'
Sequencing Primer
(F):5'- TCAGGTGACAAGGGCCTC -3'
(R):5'- TGCCTGTACCCGACTCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation