Incidental Mutation 'R5664:Trak1'
| ID |
444275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
043307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R5664 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121301373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 710
(C710S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211301]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045903
AA Change: C710S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: C710S
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
A |
6: 72,325,977 (GRCm39) |
|
probably null |
Het |
| 9430015G10Rik |
T |
A |
4: 156,208,016 (GRCm39) |
L112H |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,134,210 (GRCm39) |
L441P |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Arsj |
A |
T |
3: 126,232,306 (GRCm39) |
I351F |
probably damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,560,272 (GRCm39) |
T373A |
probably damaging |
Het |
| Atr |
C |
A |
9: 95,787,866 (GRCm39) |
N1486K |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,730,824 (GRCm39) |
S583P |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,964,525 (GRCm39) |
D1493E |
probably benign |
Het |
| Brme1 |
A |
T |
8: 84,893,288 (GRCm39) |
I152F |
probably benign |
Het |
| C2cd2l |
T |
C |
9: 44,225,069 (GRCm39) |
E548G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,307,506 (GRCm39) |
R15Q |
probably benign |
Het |
| Ccl3 |
A |
G |
11: 83,540,039 (GRCm39) |
F22S |
probably benign |
Het |
| Clcf1 |
T |
C |
19: 4,272,150 (GRCm39) |
F69S |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,686,895 (GRCm39) |
E170G |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,083,413 (GRCm39) |
F489L |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,631,577 (GRCm39) |
N390I |
probably damaging |
Het |
| Dkk1 |
T |
A |
19: 30,526,189 (GRCm39) |
Y135F |
probably benign |
Het |
| Edil3 |
G |
T |
13: 89,467,832 (GRCm39) |
V446F |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,725 (GRCm39) |
E93V |
probably damaging |
Het |
| Epsti1 |
C |
T |
14: 78,201,104 (GRCm39) |
T196I |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,876,394 (GRCm39) |
S2376P |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,911 (GRCm39) |
V1532A |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,818,439 (GRCm39) |
M4724K |
probably benign |
Het |
| Gcat |
T |
A |
15: 78,927,273 (GRCm39) |
L238Q |
probably damaging |
Het |
| Gimap6 |
T |
C |
6: 48,679,209 (GRCm39) |
K276E |
probably benign |
Het |
| Gjb5 |
T |
A |
4: 127,249,722 (GRCm39) |
I141F |
probably benign |
Het |
| Glt6d1 |
T |
C |
2: 25,704,192 (GRCm39) |
I7V |
probably benign |
Het |
| Gtf2h5 |
G |
A |
17: 6,134,799 (GRCm39) |
G30R |
probably damaging |
Het |
| Herc6 |
C |
A |
6: 57,595,669 (GRCm39) |
T449K |
probably benign |
Het |
| Hpn |
A |
T |
7: 30,798,687 (GRCm39) |
Y132N |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,244,355 (GRCm39) |
M190K |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,578,162 (GRCm39) |
H1151R |
unknown |
Het |
| Krt74 |
A |
G |
15: 101,669,014 (GRCm39) |
|
noncoding transcript |
Het |
| Loxl3 |
G |
A |
6: 83,026,863 (GRCm39) |
S564N |
probably benign |
Het |
| Map7 |
T |
A |
10: 20,143,105 (GRCm39) |
V418E |
unknown |
Het |
| Mrpl37 |
T |
C |
4: 106,921,588 (GRCm39) |
N214D |
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,139,923 (GRCm39) |
Y656H |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,812,526 (GRCm39) |
D2099G |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,578,483 (GRCm39) |
C825* |
probably null |
Het |
| Nomo1 |
A |
G |
7: 45,725,581 (GRCm39) |
E1029G |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,633,020 (GRCm39) |
D1037G |
probably benign |
Het |
| Or4b12 |
A |
G |
2: 90,095,959 (GRCm39) |
F272L |
probably damaging |
Het |
| Or5w22 |
T |
C |
2: 87,363,178 (GRCm39) |
L267P |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,049 (GRCm39) |
V385D |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,682,733 (GRCm39) |
L38P |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,788,345 (GRCm39) |
D701V |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,587,478 (GRCm39) |
T1070A |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,923,919 (GRCm39) |
D185G |
probably benign |
Het |
| Prp2rt |
C |
A |
13: 97,235,629 (GRCm39) |
L39F |
probably damaging |
Het |
| Prss1l |
C |
T |
6: 41,371,605 (GRCm39) |
P17L |
probably benign |
Het |
| Prune1 |
A |
T |
3: 95,165,489 (GRCm39) |
L261Q |
probably damaging |
Het |
| Qser1 |
A |
T |
2: 104,608,541 (GRCm39) |
L1444I |
probably damaging |
Het |
| Serpina6 |
A |
C |
12: 103,620,726 (GRCm39) |
C8G |
probably damaging |
Het |
| Sla2 |
A |
T |
2: 156,716,919 (GRCm39) |
D180E |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
| Snhg16 |
A |
T |
11: 116,563,490 (GRCm39) |
T27S |
possibly damaging |
Het |
| Tbx3 |
A |
G |
5: 119,816,796 (GRCm39) |
K311R |
possibly damaging |
Het |
| Tdpoz6 |
A |
G |
3: 93,599,994 (GRCm39) |
F125S |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,099 (GRCm39) |
C167S |
probably damaging |
Het |
| Tsks |
G |
A |
7: 44,603,208 (GRCm39) |
E337K |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,816,604 (GRCm39) |
I593T |
probably damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,765 (GRCm39) |
I713T |
possibly damaging |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,033 (GRCm39) |
T303M |
probably damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,882,978 (GRCm39) |
M258K |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,895,202 (GRCm39) |
|
probably null |
Het |
| Wap |
A |
G |
11: 6,588,609 (GRCm39) |
I5T |
possibly damaging |
Het |
| Zfp235 |
A |
C |
7: 23,841,576 (GRCm39) |
H665P |
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 |
|
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'- ACAGCAGGGAGTGTCTTCTC -3'
(R):5'- TGCACTTGAACTCGAAGGAGG -3'
Sequencing Primer
(F):5'- GAGTGTCTTCTCCTACCCCAAG -3'
(R):5'- ATCACAGCCATCCTAGGGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation