Incidental Mutation 'R8261:Trak1'
| ID |
639934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
067686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R8261 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121280733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 374
(E374G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: E374G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: E374G
| 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: ENSMUST00000210351
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210798
AA Change: E271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211187
AA Change: E364G
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211301
AA Change: E271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211439
AA Change: E271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (76/76) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,425 (GRCm39) |
E5G |
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,567,957 (GRCm39) |
V202A |
noncoding transcript |
Het |
| Adamtsl1 |
A |
C |
4: 86,195,120 (GRCm39) |
E512D |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,982,817 (GRCm39) |
D1367V |
probably damaging |
Het |
| Angpt4 |
A |
T |
2: 151,769,084 (GRCm39) |
Q198L |
probably benign |
Het |
| Apcdd1 |
T |
A |
18: 63,066,974 (GRCm39) |
H29Q |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,811 (GRCm39) |
K755* |
probably null |
Het |
| Cdk6 |
T |
G |
5: 3,440,685 (GRCm39) |
F80V |
probably benign |
Het |
| Chd1 |
T |
C |
17: 17,607,804 (GRCm39) |
S451P |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,799,002 (GRCm39) |
L2361P |
probably damaging |
Het |
| Chst8 |
A |
G |
7: 34,447,579 (GRCm39) |
M13T |
possibly damaging |
Het |
| Cntnap2 |
T |
C |
6: 47,072,627 (GRCm39) |
L1065P |
probably damaging |
Het |
| Dctn4 |
T |
C |
18: 60,659,343 (GRCm39) |
V14A |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,657,865 (GRCm39) |
V1903D |
probably damaging |
Het |
| E2f2 |
A |
G |
4: 135,911,791 (GRCm39) |
|
silent |
Het |
| Eif4g3 |
T |
A |
4: 137,898,429 (GRCm39) |
S902T |
possibly damaging |
Het |
| Emid1 |
G |
T |
11: 5,084,353 (GRCm39) |
A152D |
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,432,345 (GRCm39) |
N297K |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,032,902 (GRCm39) |
D281G |
probably null |
Het |
| Frmpd2 |
T |
C |
14: 33,224,934 (GRCm39) |
V133A |
probably benign |
Het |
| Fry |
A |
G |
5: 150,369,372 (GRCm39) |
Y2282C |
probably damaging |
Het |
| Gm10377 |
C |
T |
14: 42,616,664 (GRCm39) |
|
probably null |
Het |
| Gm1527 |
A |
G |
3: 28,974,749 (GRCm39) |
T521A |
probably damaging |
Het |
| Gpr141 |
T |
A |
13: 19,936,013 (GRCm39) |
H254L |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,950,096 (GRCm39) |
E56G |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,367,695 (GRCm39) |
|
probably null |
Het |
| Grin2a |
A |
G |
16: 9,481,382 (GRCm39) |
F473S |
probably damaging |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,102 (GRCm39) |
T94A |
probably damaging |
Het |
| Inava |
T |
A |
1: 136,153,215 (GRCm39) |
N226Y |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,772,078 (GRCm39) |
L1367P |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 936,929 (GRCm39) |
M856K |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,995,309 (GRCm39) |
|
probably benign |
Het |
| Lad1 |
T |
C |
1: 135,755,500 (GRCm39) |
S259P |
probably damaging |
Het |
| Lalba |
A |
T |
15: 98,379,992 (GRCm39) |
F86Y |
possibly damaging |
Het |
| Lrfn5 |
G |
A |
12: 61,886,323 (GRCm39) |
C37Y |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,046,942 (GRCm39) |
T665A |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,087,707 (GRCm39) |
S75C |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,041,867 (GRCm39) |
I719V |
|
Het |
| Nbl1 |
A |
T |
4: 138,812,832 (GRCm39) |
C34S |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,844,730 (GRCm39) |
I575N |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,816 (GRCm39) |
T840A |
possibly damaging |
Het |
| Nrdc |
T |
C |
4: 108,873,876 (GRCm39) |
S231P |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,165,428 (GRCm39) |
K395E |
probably benign |
Het |
| Nrip1 |
A |
T |
16: 76,088,949 (GRCm39) |
N869K |
possibly damaging |
Het |
| Or2a14 |
T |
A |
6: 43,130,242 (GRCm39) |
M1K |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,773,716 (GRCm39) |
F248L |
probably benign |
Het |
| Or8s16 |
A |
T |
15: 98,210,546 (GRCm39) |
M295K |
probably benign |
Het |
| Otub2 |
G |
T |
12: 103,369,161 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
T |
C |
16: 90,834,303 (GRCm39) |
D161G |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Per2 |
T |
A |
1: 91,361,170 (GRCm39) |
Q495L |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,431,724 (GRCm39) |
V571E |
probably damaging |
Het |
| Prr7 |
C |
A |
13: 55,620,735 (GRCm39) |
P248T |
possibly damaging |
Het |
| Ptprr |
A |
T |
10: 116,073,169 (GRCm39) |
T464S |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,993,325 (GRCm39) |
V721A |
probably benign |
Het |
| Rfx1 |
A |
T |
8: 84,819,479 (GRCm39) |
Y625F |
probably benign |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,195 (GRCm39) |
A110D |
possibly damaging |
Het |
| Setdb2 |
A |
T |
14: 59,651,141 (GRCm39) |
|
probably benign |
Het |
| Slc25a31 |
T |
C |
3: 40,679,351 (GRCm39) |
I272T |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,204,520 (GRCm39) |
V133A |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,925,777 (GRCm39) |
D1185G |
probably damaging |
Het |
| Spag6 |
T |
A |
2: 18,750,301 (GRCm39) |
L449H |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,668,036 (GRCm39) |
R687L |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,877,616 (GRCm39) |
V1012E |
noncoding transcript |
Het |
| Tmem192 |
A |
G |
8: 65,416,972 (GRCm39) |
I188V |
probably benign |
Het |
| Tmem253 |
G |
A |
14: 52,256,708 (GRCm39) |
V194M |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,303,173 (GRCm39) |
|
silent |
Het |
| Trpv1 |
A |
T |
11: 73,145,593 (GRCm39) |
|
probably null |
Het |
| Trub2 |
T |
C |
2: 29,667,725 (GRCm39) |
H305R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,747,768 (GRCm39) |
V4427A |
probably benign |
Het |
| Vasn |
A |
G |
16: 4,466,160 (GRCm39) |
T36A |
probably damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,158 (GRCm39) |
I70F |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,862,262 (GRCm39) |
I2960L |
probably damaging |
Het |
| Zdhhc4 |
C |
A |
5: 143,307,588 (GRCm39) |
M144I |
probably benign |
Het |
| Zfp273 |
T |
A |
13: 67,974,070 (GRCm39) |
N399K |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,262,125 (GRCm39) |
T572S |
unknown |
Het |
| Zmym4 |
A |
G |
4: 126,798,360 (GRCm39) |
C756R |
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 |
|
|
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 |
|
|
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'- TGTGCTCAGAACTTGCCCTG -3'
(R):5'- TTCCCTTAACCTGACAGGGAAGG -3'
Sequencing Primer
(F):5'- TCAGAACTTGCCCTGGCCATG -3'
(R):5'- CAGGGAAGGACCATGGCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation