Incidental Mutation 'R4631:Trak1'
| ID |
349203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
041896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R4631 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121283491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 419
(R419Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045903
AA Change: R522Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: R522Q
| 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 |
unknown
Transcript: ENSMUST00000209446
AA Change: R43Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210798
AA Change: R419Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211187
AA Change: R512Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211301
AA Change: R419Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
AA Change: R419Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211699
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (84/84) |
| 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 |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,270 (GRCm39) |
L368Q |
probably damaging |
Het |
| Abcc2 |
C |
T |
19: 43,803,146 (GRCm39) |
P661S |
possibly damaging |
Het |
| Adgre4 |
T |
G |
17: 56,121,305 (GRCm39) |
M457R |
probably null |
Het |
| Ank |
C |
A |
15: 27,467,176 (GRCm39) |
F29L |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,751,653 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
T |
C |
1: 170,574,766 (GRCm39) |
|
probably null |
Het |
| Bhmt1b |
G |
A |
18: 87,774,525 (GRCm39) |
R16H |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,975,078 (GRCm39) |
F2079L |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,306,045 (GRCm39) |
*1122Q |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,926,697 (GRCm39) |
Y558H |
probably benign |
Het |
| Ctsm |
T |
A |
13: 61,685,510 (GRCm39) |
S301C |
probably null |
Het |
| Dlc1 |
A |
C |
8: 37,404,712 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
T |
7: 91,737,822 (GRCm39) |
I435F |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,402,099 (GRCm39) |
V3420A |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,420,140 (GRCm39) |
Y3813N |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,067,616 (GRCm39) |
M1181T |
probably damaging |
Het |
| Drc3 |
C |
A |
11: 60,255,734 (GRCm39) |
T107N |
probably benign |
Het |
| Dydc2 |
T |
C |
14: 40,771,286 (GRCm39) |
E131G |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,080,828 (GRCm39) |
V723A |
probably damaging |
Het |
| Fndc9 |
C |
A |
11: 46,128,675 (GRCm39) |
H65N |
possibly damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Gps1 |
T |
A |
11: 120,679,065 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,730 (GRCm39) |
|
noncoding transcript |
Het |
| Kazn |
G |
A |
4: 141,845,471 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,942,821 (GRCm39) |
|
noncoding transcript |
Het |
| Kif19a |
A |
G |
11: 114,675,673 (GRCm39) |
I382V |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Malsu1 |
A |
T |
6: 49,061,467 (GRCm39) |
E177V |
probably damaging |
Het |
| Man2a2 |
A |
G |
7: 80,012,211 (GRCm39) |
F649L |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,941 (GRCm39) |
I223V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh9 |
T |
G |
15: 77,681,228 (GRCm39) |
D164A |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,556,984 (GRCm39) |
I1040T |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 112,994,266 (GRCm39) |
A896T |
probably damaging |
Het |
| Myocd |
G |
T |
11: 65,069,685 (GRCm39) |
N798K |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,563 (GRCm39) |
D266G |
probably benign |
Het |
| Or1n1b |
T |
G |
2: 36,780,630 (GRCm39) |
T77P |
probably benign |
Het |
| Or2l13b |
G |
A |
16: 19,348,891 (GRCm39) |
R260* |
probably null |
Het |
| Or4c11 |
C |
T |
2: 88,695,174 (GRCm39) |
T75I |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,908 (GRCm39) |
W260R |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,426,682 (GRCm39) |
L290Q |
probably damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,636 (GRCm39) |
I11F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,890 (GRCm39) |
I142F |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,212 (GRCm39) |
E334G |
possibly damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,125 (GRCm39) |
D363G |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,263,290 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
T |
G |
10: 13,003,743 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,537 (GRCm39) |
D364G |
possibly damaging |
Het |
| Rab2b |
T |
A |
14: 52,503,699 (GRCm39) |
H141L |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,704,412 (GRCm39) |
K279E |
probably benign |
Het |
| Rnf111 |
G |
T |
9: 70,357,678 (GRCm39) |
T607N |
probably benign |
Het |
| Scn8a |
C |
A |
15: 100,914,384 (GRCm39) |
S1130* |
probably null |
Het |
| Selenbp1 |
A |
G |
3: 94,851,879 (GRCm39) |
*473W |
probably null |
Het |
| Sh3bp4 |
A |
C |
1: 89,071,995 (GRCm39) |
D281A |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,486,314 (GRCm39) |
|
probably null |
Het |
| Slc1a4 |
A |
G |
11: 20,258,452 (GRCm39) |
L249P |
probably damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,662 (GRCm39) |
S222T |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,392,255 (GRCm39) |
F393S |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,801,078 (GRCm39) |
D536V |
possibly damaging |
Het |
| Stra6 |
T |
A |
9: 58,048,115 (GRCm39) |
|
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,007,250 (GRCm39) |
D156G |
probably benign |
Het |
| Tns3 |
A |
C |
11: 8,401,119 (GRCm39) |
F1060V |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 21,000,865 (GRCm39) |
S273P |
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,435,200 (GRCm39) |
S320P |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,980 (GRCm39) |
Y262F |
probably benign |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,758 (GRCm39) |
C192Y |
probably benign |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,962 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,646,278 (GRCm39) |
H1461Y |
possibly damaging |
Het |
| Ythdc2 |
A |
T |
18: 45,020,698 (GRCm39) |
E1427D |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,482 (GRCm39) |
V285E |
probably damaging |
Het |
| Zbtb26 |
A |
G |
2: 37,326,968 (GRCm39) |
F23L |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,632 (GRCm39) |
*908R |
probably null |
Het |
| Zfp975 |
A |
T |
7: 42,312,369 (GRCm39) |
N81K |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,951,918 (GRCm39) |
V198M |
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 |
|
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'- TCAGTTGAGACCCACAGAGG -3'
(R):5'- CTTCGAGTGGCTTCACGATCTG -3'
Sequencing Primer
(F):5'- AGGGAACTCCTTCAGTGGCTG -3'
(R):5'- ACGATCTGCAGCTTCTCGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation