Incidental Mutation 'R9073:Trak1'
ID |
692888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trak1
|
Ensembl Gene |
ENSMUSG00000032536 |
Gene Name |
trafficking protein, kinesin binding 1 |
Synonyms |
hyrt, 2310001H13Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R9073 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121289554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 622
(L622P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
AlphaFold |
Q6PD31 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045903
AA Change: L622P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000044482 Gene: ENSMUSG00000032536 AA Change: L622P
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210798
AA Change: L519P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: L612P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211301
AA Change: L519P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (79/80) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,921,374 (GRCm39) |
Y190* |
probably null |
Het |
Agbl3 |
T |
C |
6: 34,776,387 (GRCm39) |
C298R |
probably damaging |
Het |
Ankrd26 |
T |
A |
6: 118,500,350 (GRCm39) |
K1040N |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,576,243 (GRCm39) |
T93S |
probably benign |
Het |
Apoc3 |
T |
A |
9: 46,144,532 (GRCm39) |
I97F |
probably benign |
Het |
Arid5a |
A |
G |
1: 36,358,626 (GRCm39) |
E401G |
probably benign |
Het |
Atxn3 |
T |
C |
12: 101,903,730 (GRCm39) |
|
probably null |
Het |
Brca1 |
C |
T |
11: 101,393,306 (GRCm39) |
|
probably null |
Het |
C1ql3 |
T |
A |
2: 13,015,198 (GRCm39) |
N154I |
probably damaging |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Ccdc110 |
A |
T |
8: 46,395,875 (GRCm39) |
M589L |
probably benign |
Het |
Ccnb2 |
A |
T |
9: 70,318,095 (GRCm39) |
F226I |
possibly damaging |
Het |
Clasp1 |
C |
A |
1: 118,390,193 (GRCm39) |
|
probably null |
Het |
Commd8 |
TTGTCATCT |
TT |
5: 72,318,327 (GRCm39) |
|
probably null |
Het |
Dis3 |
T |
C |
14: 99,332,647 (GRCm39) |
T262A |
probably benign |
Het |
Eif4a2 |
G |
A |
16: 22,929,403 (GRCm39) |
R234Q |
probably benign |
Het |
Ephx2 |
G |
A |
14: 66,323,688 (GRCm39) |
R481* |
probably null |
Het |
Fbxo15 |
T |
C |
18: 84,983,645 (GRCm39) |
I331T |
possibly damaging |
Het |
Gfra2 |
A |
G |
14: 71,138,935 (GRCm39) |
E121G |
possibly damaging |
Het |
Git1 |
G |
A |
11: 77,389,901 (GRCm39) |
A55T |
probably benign |
Het |
Gm12887 |
G |
T |
4: 121,479,238 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
C |
5: 107,046,146 (GRCm39) |
I553V |
probably benign |
Het |
Hydin |
G |
A |
8: 110,994,083 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,016,773 (GRCm39) |
N1085S |
|
Het |
Kbtbd12 |
T |
C |
6: 88,595,422 (GRCm39) |
Y136C |
probably damaging |
Het |
Kcng3 |
A |
G |
17: 83,938,423 (GRCm39) |
Y209H |
possibly damaging |
Het |
Kcnj2 |
A |
T |
11: 110,962,664 (GRCm39) |
M19L |
possibly damaging |
Het |
Lonrf2 |
A |
T |
1: 38,850,867 (GRCm39) |
F232I |
probably damaging |
Het |
Lrrc31 |
T |
C |
3: 30,753,859 (GRCm39) |
D14G |
probably benign |
Het |
Ly6l |
G |
A |
15: 75,321,585 (GRCm39) |
V62I |
possibly damaging |
Het |
Marchf8 |
T |
C |
6: 116,378,884 (GRCm39) |
F273L |
probably benign |
Het |
Masp1 |
A |
C |
16: 23,288,671 (GRCm39) |
S710A |
probably benign |
Het |
Mcm10 |
G |
A |
2: 5,013,414 (GRCm39) |
R73C |
possibly damaging |
Het |
Mcm5 |
G |
A |
8: 75,852,934 (GRCm39) |
R682H |
probably damaging |
Het |
Mink1 |
C |
T |
11: 70,499,207 (GRCm39) |
T684I |
possibly damaging |
Het |
Mocos |
A |
T |
18: 24,797,089 (GRCm39) |
Q83L |
probably damaging |
Het |
Nags |
T |
C |
11: 102,038,347 (GRCm39) |
L351P |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,532,863 (GRCm39) |
T1299I |
possibly damaging |
Het |
Nlrp4b |
A |
G |
7: 10,459,870 (GRCm39) |
D824G |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,422,046 (GRCm39) |
M1031L |
probably benign |
Het |
Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
Or4c101 |
A |
C |
2: 88,390,658 (GRCm39) |
I271L |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,250,705 (GRCm39) |
I197N |
possibly damaging |
Het |
Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
Or5b112 |
A |
G |
19: 13,319,238 (GRCm39) |
T39A |
possibly damaging |
Het |
Or5d37 |
T |
A |
2: 87,924,172 (GRCm39) |
Q36L |
probably benign |
Het |
Pan2 |
T |
C |
10: 128,151,050 (GRCm39) |
M807T |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,047,951 (GRCm39) |
I222N |
probably damaging |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Pou1f1 |
T |
C |
16: 65,328,833 (GRCm39) |
L186P |
|
Het |
Ppargc1b |
G |
A |
18: 61,443,730 (GRCm39) |
R494W |
probably damaging |
Het |
Prg4 |
G |
T |
1: 150,331,288 (GRCm39) |
P462T |
unknown |
Het |
Ptcd1 |
T |
A |
5: 145,091,525 (GRCm39) |
I525L |
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,480,172 (GRCm39) |
F693S |
probably damaging |
Het |
Rad51b |
T |
G |
12: 79,344,439 (GRCm39) |
|
probably benign |
Het |
Rgs12 |
A |
T |
5: 35,177,753 (GRCm39) |
|
probably benign |
Het |
Ribc2 |
A |
C |
15: 85,022,163 (GRCm39) |
Q186P |
probably damaging |
Het |
Sesn2 |
C |
A |
4: 132,224,195 (GRCm39) |
|
probably null |
Het |
Sgf29 |
G |
A |
7: 126,271,826 (GRCm39) |
V284M |
probably damaging |
Het |
Skap2 |
C |
T |
6: 51,856,750 (GRCm39) |
|
probably null |
Het |
Smap1 |
T |
A |
1: 23,961,154 (GRCm39) |
E28V |
probably damaging |
Het |
Smc3 |
A |
G |
19: 53,617,200 (GRCm39) |
N538D |
probably benign |
Het |
Spen |
T |
C |
4: 141,203,702 (GRCm39) |
T1642A |
unknown |
Het |
Spred3 |
G |
A |
7: 28,865,955 (GRCm39) |
R115* |
probably null |
Het |
Sugt1 |
T |
A |
14: 79,866,293 (GRCm39) |
M304K |
possibly damaging |
Het |
Sval1 |
T |
C |
6: 41,928,606 (GRCm39) |
I6T |
possibly damaging |
Het |
Svil |
T |
C |
18: 5,097,500 (GRCm39) |
I1574T |
probably benign |
Het |
Ticrr |
T |
A |
7: 79,317,679 (GRCm39) |
D404E |
probably benign |
Het |
Tinag |
T |
A |
9: 76,904,300 (GRCm39) |
|
probably null |
Het |
Tpbg |
A |
T |
9: 85,724,924 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,586,218 (GRCm39) |
D21838N |
probably damaging |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn1r73 |
C |
T |
7: 11,490,203 (GRCm39) |
A7V |
probably benign |
Het |
Yy1 |
G |
T |
12: 108,759,921 (GRCm39) |
G195C |
probably benign |
Het |
Zbtb17 |
T |
A |
4: 141,193,676 (GRCm39) |
C607S |
possibly damaging |
Het |
Zfp735 |
T |
C |
11: 73,603,060 (GRCm39) |
V668A |
probably benign |
Het |
Zfp819 |
C |
A |
7: 43,266,570 (GRCm39) |
T351K |
probably damaging |
Het |
Zfp820 |
C |
A |
17: 22,039,031 (GRCm39) |
S99I |
possibly 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 |
|
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 |
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'- TCTAGCTGCCATGCTAACTC -3'
(R):5'- TTACAGGACTAATCGAGGCGC -3'
Sequencing Primer
(F):5'- ATGCTAACTCTCCCTTCTCTTGG -3'
(R):5'- TGGCGGCTGGTGCATCTC -3'
|
Posted On |
2021-12-30 |