Incidental Mutation 'R8300:Trak1'
| ID |
639210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak1
|
| Ensembl Gene |
ENSMUSG00000032536 |
| Gene Name |
trafficking protein, kinesin binding 1 |
| Synonyms |
hyrt, 2310001H13Rik |
| MMRRC Submission |
067788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R8300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121126568-121303984 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 121289565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 626
(E626*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045903]
[ENSMUST00000210798]
[ENSMUST00000211187]
[ENSMUST00000211301]
[ENSMUST00000211439]
|
| AlphaFold |
Q6PD31 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045903
AA Change: E626*
|
| SMART Domains |
Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: E626*
| 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 null
Transcript: ENSMUST00000209446
AA Change: E147*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210798
AA Change: E523*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211187
AA Change: E616*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211301
AA Change: E523*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211439
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
A |
G |
9: 21,437,561 (GRCm39) |
M1V |
probably null |
Het |
| Abca12 |
T |
A |
1: 71,353,123 (GRCm39) |
N773I |
possibly damaging |
Het |
| Adh7 |
A |
G |
3: 137,929,825 (GRCm39) |
E167G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,804,555 (GRCm39) |
D622V |
|
Het |
| Asf1b |
T |
A |
8: 84,695,805 (GRCm39) |
F149I |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,515,996 (GRCm39) |
V179A |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,498,597 (GRCm39) |
A430V |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,717 (GRCm39) |
Q1944L |
|
Het |
| Camkk1 |
T |
C |
11: 72,918,266 (GRCm39) |
V158A |
probably benign |
Het |
| Ccdc152 |
T |
C |
15: 3,327,634 (GRCm39) |
T48A |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,841,301 (GRCm39) |
M116L |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,804,692 (GRCm39) |
G12R |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,941,671 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,011,385 (GRCm39) |
|
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,285 (GRCm39) |
V238E |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,286 (GRCm39) |
V238I |
probably damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,198,333 (GRCm39) |
M276L |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,672 (GRCm39) |
S222P |
probably damaging |
Het |
| Egflam |
T |
C |
15: 7,283,932 (GRCm39) |
D269G |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,342,687 (GRCm39) |
R64Q |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,857,689 (GRCm39) |
K622M |
probably damaging |
Het |
| Gm10220 |
T |
C |
5: 26,322,818 (GRCm39) |
E198G |
probably damaging |
Het |
| Gm1527 |
A |
T |
3: 28,980,744 (GRCm39) |
N615Y |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,307,140 (GRCm39) |
H308R |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,766,790 (GRCm39) |
I261T |
probably damaging |
Het |
| Gsg1 |
T |
G |
6: 135,214,580 (GRCm39) |
T310P |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,926,775 (GRCm39) |
S1075G |
probably null |
Het |
| Hyal6 |
A |
G |
6: 24,734,087 (GRCm39) |
T7A |
probably benign |
Het |
| Ighv1-59 |
T |
G |
12: 115,298,987 (GRCm39) |
Q22H |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,838,643 (GRCm39) |
M1853K |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,762 (GRCm39) |
I237T |
probably benign |
Het |
| Mccc1 |
A |
T |
3: 36,017,753 (GRCm39) |
M649K |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,692,352 (GRCm39) |
D399G |
|
Het |
| Obscn |
T |
C |
11: 58,933,896 (GRCm39) |
K5323E |
probably benign |
Het |
| Or6p1 |
T |
A |
1: 174,258,100 (GRCm39) |
Y35* |
probably null |
Het |
| Paics |
T |
C |
5: 77,109,253 (GRCm39) |
V196A |
probably damaging |
Het |
| Pced1a |
C |
A |
2: 130,266,157 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
A |
T |
2: 28,352,435 (GRCm39) |
Y109* |
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,928,711 (GRCm39) |
V848A |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,618,118 (GRCm39) |
N92K |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,588,571 (GRCm39) |
I152N |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,319,967 (GRCm39) |
M442T |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,301,942 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,399,773 (GRCm39) |
K220R |
probably benign |
Het |
| Qrich2 |
G |
T |
11: 116,347,175 (GRCm39) |
D1216E |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,838,833 (GRCm39) |
|
silent |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,874,835 (GRCm39) |
R252Q |
probably damaging |
Het |
| Rnpep |
T |
C |
1: 135,211,397 (GRCm39) |
H117R |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,456 (GRCm39) |
D206G |
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,854,792 (GRCm39) |
V1302M |
probably benign |
Het |
| Slmap |
T |
C |
14: 26,139,374 (GRCm39) |
E780G |
possibly damaging |
Het |
| Snrpg |
T |
A |
6: 86,353,558 (GRCm39) |
V46E |
probably damaging |
Het |
| Spef1l |
A |
T |
7: 139,557,091 (GRCm39) |
I98N |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,058 (GRCm39) |
Q953L |
noncoding transcript |
Het |
| Stard9 |
C |
T |
2: 120,535,250 (GRCm39) |
L3836F |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,683,137 (GRCm39) |
M619K |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf9 |
C |
T |
4: 151,017,556 (GRCm39) |
T137M |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,855,108 (GRCm39) |
H750Q |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,070,414 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,347 (GRCm39) |
I451V |
probably benign |
Het |
| Zfp930 |
A |
T |
8: 69,680,998 (GRCm39) |
N230I |
probably benign |
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 |
|
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'- AGCTGCCATGCTAACTCTCC -3'
(R):5'- TTTACAGGACTAATCGAGGCG -3'
Sequencing Primer
(F):5'- ATGCTAACTCTCCCTTCTCTTGG -3'
(R):5'- ACTAATCGAGGCGCCCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation