Incidental Mutation 'R4630:Trak1'
| ID |
349125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
041895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R4630 (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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (74/76) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
A |
T |
13: 119,624,622 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,009,294 (GRCm39) |
Q240P |
probably benign |
Het |
| Bckdha |
A |
T |
7: 25,330,884 (GRCm39) |
I44N |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,286,867 (GRCm39) |
Y32H |
probably damaging |
Het |
| Catip |
A |
G |
1: 74,408,072 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,409,477 (GRCm39) |
L602P |
probably damaging |
Het |
| Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
| Comp |
A |
T |
8: 70,827,032 (GRCm39) |
I58F |
possibly damaging |
Het |
| Crygs |
T |
C |
16: 22,624,268 (GRCm39) |
E113G |
possibly damaging |
Het |
| Dnmt3b |
C |
T |
2: 153,512,235 (GRCm39) |
R319* |
probably null |
Het |
| Eif3a |
A |
G |
19: 60,758,366 (GRCm39) |
I804T |
unknown |
Het |
| Eif3a |
A |
T |
19: 60,766,424 (GRCm39) |
H301Q |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,184,478 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,348,990 (GRCm39) |
G41* |
probably null |
Het |
| Gm10384 |
A |
G |
15: 36,872,017 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11627 |
T |
A |
11: 102,469,657 (GRCm39) |
|
probably benign |
Het |
| Gpr183 |
A |
T |
14: 122,192,261 (GRCm39) |
Y87N |
probably damaging |
Het |
| Gpr183 |
G |
C |
14: 122,192,262 (GRCm39) |
Y86* |
probably null |
Het |
| Gpr26 |
T |
C |
7: 131,568,709 (GRCm39) |
V18A |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,996 (GRCm39) |
|
probably null |
Het |
| Hint2 |
C |
T |
4: 43,656,396 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,927,899 (GRCm39) |
D837E |
probably damaging |
Het |
| Jmjd1c |
C |
A |
10: 66,993,753 (GRCm39) |
S78* |
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lalba |
T |
C |
15: 98,380,549 (GRCm39) |
M2V |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,101,295 (GRCm39) |
D1929E |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,432 (GRCm39) |
K878R |
possibly damaging |
Het |
| Mboat4 |
T |
C |
8: 34,591,108 (GRCm39) |
S182P |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,411,721 (GRCm39) |
T1556S |
unknown |
Het |
| Myo1g |
T |
C |
11: 6,469,047 (GRCm39) |
Y85C |
probably damaging |
Het |
| Ncapd2 |
C |
A |
6: 125,156,196 (GRCm39) |
|
probably null |
Het |
| Nox3 |
T |
C |
17: 3,744,257 (GRCm39) |
D96G |
possibly damaging |
Het |
| Or10a48 |
T |
C |
7: 108,424,802 (GRCm39) |
M135V |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,822 (GRCm39) |
L250P |
probably damaging |
Het |
| Or6c212 |
A |
G |
10: 129,559,350 (GRCm39) |
L21P |
probably damaging |
Het |
| Pacs1 |
C |
T |
19: 5,206,384 (GRCm39) |
|
probably null |
Het |
| Pgap4 |
C |
G |
4: 49,586,254 (GRCm39) |
V305L |
probably benign |
Het |
| Pgm5 |
C |
A |
19: 24,812,110 (GRCm39) |
G141* |
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
| Pld4 |
T |
A |
12: 112,731,498 (GRCm39) |
V217D |
probably damaging |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,278 (GRCm39) |
S126P |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,710,915 (GRCm39) |
E285G |
probably benign |
Het |
| Pradc1 |
T |
A |
6: 85,424,275 (GRCm39) |
M24L |
possibly damaging |
Het |
| Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
| Rmi2 |
C |
T |
16: 10,704,073 (GRCm39) |
T138I |
probably benign |
Het |
| Rtkn |
A |
T |
6: 83,129,163 (GRCm39) |
K540* |
probably null |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,388,114 (GRCm39) |
L124P |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,297,646 (GRCm39) |
D208G |
probably damaging |
Het |
| Sult4a1 |
T |
C |
15: 83,989,779 (GRCm39) |
T8A |
possibly damaging |
Het |
| Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,477 (GRCm39) |
E90G |
probably benign |
Het |
| Tmem123 |
T |
C |
9: 7,791,393 (GRCm39) |
L164P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trp53bp1 |
G |
T |
2: 121,038,368 (GRCm39) |
A1490D |
probably damaging |
Het |
| Ttc16 |
T |
C |
2: 32,665,389 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
T |
A |
1: 57,427,686 (GRCm39) |
Q306L |
probably damaging |
Het |
| Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Zar1 |
A |
G |
5: 72,738,249 (GRCm39) |
V51A |
probably benign |
Het |
| Zbtb38 |
T |
G |
9: 96,570,904 (GRCm39) |
N60T |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,961,045 (GRCm39) |
S417P |
probably damaging |
Het |
| Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfp518a |
C |
T |
19: 40,901,423 (GRCm39) |
Q451* |
probably null |
Het |
| Zfp64 |
T |
C |
2: 168,768,463 (GRCm39) |
N383S |
possibly damaging |
Het |
| Zfp687 |
A |
T |
3: 94,919,799 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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