Incidental Mutation 'R9312:Trak1'
| ID |
705656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R9312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121280757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 382
(E382G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210351]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045903
AA Change: E382G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: E382G
| 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: E279G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211187
AA Change: E372G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211301
AA Change: E279G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211439
AA Change: E279G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
A |
G |
7: 139,565,791 (GRCm39) |
L607P |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,949,045 (GRCm39) |
R205S |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,117,900 (GRCm39) |
Y1216C |
probably damaging |
Het |
| Arl3 |
A |
G |
19: 46,531,964 (GRCm39) |
V91A |
probably damaging |
Het |
| Bckdhb |
A |
T |
9: 83,870,833 (GRCm39) |
K114N |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,561,569 (GRCm39) |
D150E |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,616,095 (GRCm38) |
R312C |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,860,713 (GRCm39) |
I239T |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,768,371 (GRCm39) |
E120V |
probably null |
Het |
| Col18a1 |
T |
C |
10: 76,894,606 (GRCm39) |
E1022G |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,167,709 (GRCm39) |
I231T |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,908,458 (GRCm39) |
Y228H |
probably benign |
Het |
| Ddx41 |
T |
A |
13: 55,683,842 (GRCm39) |
Q52L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,050,413 (GRCm39) |
Y3212C |
probably damaging |
Het |
| Etv4 |
A |
G |
11: 101,664,923 (GRCm39) |
Y177H |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,460,248 (GRCm39) |
E1910G |
probably damaging |
Het |
| Fgf11 |
G |
T |
11: 69,689,412 (GRCm39) |
H195Q |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,561,070 (GRCm39) |
K529E |
probably damaging |
Het |
| Gfus |
T |
C |
15: 75,797,169 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Gsdmc |
C |
A |
15: 63,649,806 (GRCm39) |
A362S |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,942,123 (GRCm39) |
N545K |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,446,565 (GRCm39) |
H1638R |
probably benign |
Het |
| Hecw1 |
T |
G |
13: 14,546,567 (GRCm39) |
I145L |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,614,316 (GRCm39) |
V124A |
possibly damaging |
Het |
| Il31ra |
C |
T |
13: 112,686,023 (GRCm39) |
V89I |
probably benign |
Het |
| Kcnmb3 |
A |
T |
3: 32,536,575 (GRCm39) |
M51K |
probably benign |
Het |
| Lamb1 |
C |
T |
12: 31,368,352 (GRCm39) |
R1209C |
probably damaging |
Het |
| Lcn6 |
G |
T |
2: 25,570,074 (GRCm39) |
G80V |
probably benign |
Het |
| Lgsn |
A |
G |
1: 31,243,280 (GRCm39) |
E454G |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,498,285 (GRCm39) |
M1624I |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,146,925 (GRCm39) |
|
probably null |
Het |
| Mlip |
A |
G |
9: 77,147,060 (GRCm39) |
Y26H |
probably damaging |
Het |
| Nipsnap1 |
A |
C |
11: 4,839,902 (GRCm39) |
I208L |
possibly damaging |
Het |
| Nusap1 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
2: 119,458,119 (GRCm39) |
|
probably benign |
Het |
| Or5m11 |
T |
A |
2: 85,781,509 (GRCm39) |
V34D |
possibly damaging |
Het |
| Pigr |
C |
T |
1: 130,762,185 (GRCm39) |
T7M |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,199,315 (GRCm39) |
M1V |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,797,364 (GRCm39) |
I2568N |
probably damaging |
Het |
| Psmd4 |
A |
T |
3: 94,940,729 (GRCm39) |
S345T |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 185,015,684 (GRCm39) |
M1321L |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,240,158 (GRCm39) |
|
probably null |
Het |
| Sart3 |
C |
T |
5: 113,900,935 (GRCm39) |
E168K |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,818 (GRCm39) |
K206E |
probably benign |
Het |
| Smg6 |
A |
C |
11: 74,820,877 (GRCm39) |
S383R |
probably benign |
Het |
| Smurf1 |
G |
T |
5: 144,830,893 (GRCm39) |
P294H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,445,396 (GRCm39) |
H2279L |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,223,978 (GRCm39) |
D221V |
probably benign |
Het |
| Tgm6 |
T |
A |
2: 129,977,701 (GRCm39) |
H13Q |
probably benign |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,767 (GRCm39) |
D32G |
probably damaging |
Het |
| Tppp |
A |
G |
13: 74,179,377 (GRCm39) |
D167G |
probably damaging |
Het |
| Trdv2-1 |
C |
T |
14: 54,183,570 (GRCm39) |
T14I |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,784,677 (GRCm39) |
D799V |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,926,439 (GRCm39) |
Y317* |
probably null |
Het |
| Vmn1r225 |
C |
T |
17: 20,722,960 (GRCm39) |
L134F |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,406 (GRCm39) |
I365T |
probably benign |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,497 (GRCm39) |
S215P |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,124 (GRCm39) |
V275A |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,569 (GRCm39) |
I592F |
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 |
|
|
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 |
|
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'- CATGGCTTGGCAGATTCTCTC -3'
(R):5'- CCAGCCTTAGAGAGATGTCAC -3'
Sequencing Primer
(F):5'- CAGATTCTCTCTGTGTAGGGATTGC -3'
(R):5'- CAGCCTTAGAGAGATGTCACTGTATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation