Incidental Mutation 'P0041:Trak2'
| ID |
15765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trak2
|
| Ensembl Gene |
ENSMUSG00000026028 |
| Gene Name |
trafficking protein, kinesin binding 2 |
| Synonyms |
2900022D04Rik, GRIF-1, CALS-C, OIP98, GRIF1, Als2cr3, 4733401O11Rik |
| MMRRC Submission |
038289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0041 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58939608-59012589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58949123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 559
(V559A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027186]
[ENSMUST00000174120]
|
| AlphaFold |
Q6P9N8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027186
AA Change: V559A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: V559A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
48 |
353 |
2.5e-135 |
PFAM |
|
Pfam:Milton
|
426 |
565 |
3e-26 |
PFAM |
|
low complexity region
|
663 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172685
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174120
AA Change: V559A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028
AA Change: V559A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
47 |
354 |
1.3e-129 |
PFAM |
|
Pfam:Milton
|
411 |
565 |
1.1e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.6147 |
| Coding Region Coverage |
- 1x: 86.7%
- 3x: 79.7%
- 10x: 43.1%
- 20x: 3.5%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap1 |
A |
G |
2: 91,499,738 (GRCm39) |
E291G |
probably benign |
Het |
| Atg5 |
A |
C |
10: 44,165,938 (GRCm39) |
E63A |
probably benign |
Het |
| Clec4b2 |
A |
G |
6: 123,158,253 (GRCm39) |
T40A |
possibly damaging |
Het |
| Colgalt1 |
A |
G |
8: 72,075,434 (GRCm39) |
M447V |
probably benign |
Het |
| Dnai3 |
G |
A |
3: 145,786,997 (GRCm39) |
S346F |
possibly damaging |
Het |
| Enpep |
T |
C |
3: 129,125,847 (GRCm39) |
D95G |
possibly damaging |
Het |
| Epha3 |
C |
A |
16: 63,433,231 (GRCm39) |
E170D |
probably damaging |
Het |
| Gm9900 |
A |
T |
11: 58,220,409 (GRCm39) |
Y63* |
probably null |
Het |
| Gtf2i |
C |
T |
5: 134,273,742 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,517,647 (GRCm39) |
N343I |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,197,599 (GRCm39) |
|
probably benign |
Het |
| Mobp |
G |
A |
9: 119,997,083 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,861,603 (GRCm38) |
H553L |
probably benign |
Het |
| Nploc4 |
A |
T |
11: 120,309,157 (GRCm39) |
D148E |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,749,473 (GRCm39) |
K296E |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,696 (GRCm39) |
I406T |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,370,524 (GRCm39) |
M255K |
possibly damaging |
Het |
| Synrg |
C |
T |
11: 83,873,137 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,875,050 (GRCm39) |
D552G |
probably benign |
Het |
|
| Other mutations in Trak2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Trak2
|
APN |
1 |
58,962,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Trak2
|
APN |
1 |
58,965,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02154:Trak2
|
APN |
1 |
58,947,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Trak2
|
APN |
1 |
58,949,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02732:Trak2
|
APN |
1 |
58,949,222 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02734:Trak2
|
APN |
1 |
58,949,222 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03147:Trak2
|
UTSW |
1 |
58,949,222 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0079:Trak2
|
UTSW |
1 |
58,965,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Trak2
|
UTSW |
1 |
58,942,820 (GRCm39) |
missense |
probably benign |
|
|
R0792:Trak2
|
UTSW |
1 |
58,942,820 (GRCm39) |
missense |
probably benign |
|
|
R1099:Trak2
|
UTSW |
1 |
58,961,000 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1899:Trak2
|
UTSW |
1 |
58,985,495 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R1903:Trak2
|
UTSW |
1 |
58,958,014 (GRCm39) |
splice site |
probably null |
|
|
R2292:Trak2
|
UTSW |
1 |
58,974,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2312:Trak2
|
UTSW |
1 |
58,974,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3720:Trak2
|
UTSW |
1 |
58,985,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4966:Trak2
|
UTSW |
1 |
58,958,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Trak2
|
UTSW |
1 |
58,974,967 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5730:Trak2
|
UTSW |
1 |
58,960,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Trak2
|
UTSW |
1 |
58,958,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5981:Trak2
|
UTSW |
1 |
58,947,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6000:Trak2
|
UTSW |
1 |
58,950,971 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6053:Trak2
|
UTSW |
1 |
58,943,228 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6894:Trak2
|
UTSW |
1 |
58,950,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Trak2
|
UTSW |
1 |
58,949,184 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7096:Trak2
|
UTSW |
1 |
58,942,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Trak2
|
UTSW |
1 |
58,960,227 (GRCm39) |
splice site |
probably null |
|
|
R7847:Trak2
|
UTSW |
1 |
58,974,977 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7889:Trak2
|
UTSW |
1 |
58,957,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Trak2
|
UTSW |
1 |
58,985,447 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8313:Trak2
|
UTSW |
1 |
58,960,306 (GRCm39) |
nonsense |
probably null |
|
|
R8728:Trak2
|
UTSW |
1 |
58,974,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8930:Trak2
|
UTSW |
1 |
58,974,967 (GRCm39) |
missense |
probably benign |
|
|
R8932:Trak2
|
UTSW |
1 |
58,974,967 (GRCm39) |
missense |
probably benign |
|
|
R9263:Trak2
|
UTSW |
1 |
58,985,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9291:Trak2
|
UTSW |
1 |
58,943,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Trak2
|
UTSW |
1 |
58,960,296 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9670:Trak2
|
UTSW |
1 |
58,985,463 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Trak2
|
UTSW |
1 |
58,947,691 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2012-12-21 |
Incidental Mutation