Incidental Mutation 'R7847:Trak2'
| ID |
606660 |
| 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 |
045901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58939608-59012589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58974977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 72
(S72A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027186]
[ENSMUST00000173590]
[ENSMUST00000174120]
|
| AlphaFold |
Q6P9N8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027186
AA Change: S72A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: S72A
| 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 |
probably benign
Transcript: ENSMUST00000173590
|
| SMART Domains |
Protein: ENSMUSP00000134499
Gene: ENSMUSG00000026028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
2 |
52 |
9.4e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174120
AA Change: S72A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028
AA Change: S72A
| 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 |
0.1708 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,549 (GRCm39) |
Y296N |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,864,892 (GRCm39) |
E378G |
probably damaging |
Het |
| Acp2 |
C |
T |
2: 91,041,077 (GRCm39) |
H422Y |
possibly damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,193 (GRCm39) |
C205Y |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,700,905 (GRCm39) |
L225S |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,511,828 (GRCm39) |
V455G |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,252,069 (GRCm39) |
S940* |
probably null |
Het |
| Asb15 |
C |
A |
6: 24,564,266 (GRCm39) |
A240E |
probably damaging |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,457,103 (GRCm39) |
E529G |
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,597,185 (GRCm39) |
S26P |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,192,256 (GRCm39) |
S391P |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,712,503 (GRCm39) |
L2086Q |
unknown |
Het |
| Ephx1 |
A |
G |
1: 180,829,426 (GRCm39) |
S41P |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,407,058 (GRCm39) |
T1034M |
probably damaging |
Het |
| Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,752,282 (GRCm39) |
H3227R |
probably damaging |
Het |
| Grin2c |
G |
A |
11: 115,151,804 (GRCm39) |
P52L |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,308 (GRCm39) |
|
probably null |
Het |
| Il17rb |
A |
G |
14: 29,718,763 (GRCm39) |
Y440H |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,352,881 (GRCm39) |
L343P |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,901,457 (GRCm39) |
E1053K |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,491,599 (GRCm39) |
V128E |
possibly damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,063 (GRCm39) |
N650D |
probably benign |
Het |
| Lrrfip2 |
T |
C |
9: 111,042,948 (GRCm39) |
L460P |
probably damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,651,328 (GRCm39) |
Q1379R |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,233,198 (GRCm39) |
A256T |
probably benign |
Het |
| Mup17 |
T |
A |
4: 61,511,456 (GRCm39) |
H159L |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,058,430 (GRCm39) |
M610V |
probably benign |
Het |
| Or10ak14 |
G |
T |
4: 118,611,565 (GRCm39) |
H59N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,730 (GRCm39) |
S19T |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,381,801 (GRCm39) |
S74P |
probably benign |
Het |
| Pard3b |
A |
G |
1: 62,383,093 (GRCm39) |
D729G |
probably benign |
Het |
| Phactr1 |
T |
C |
13: 43,210,664 (GRCm39) |
L169P |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,612,655 (GRCm39) |
S762R |
probably damaging |
Het |
| Senp5 |
C |
T |
16: 31,808,991 (GRCm39) |
V88I |
probably benign |
Het |
| Specc1l |
T |
C |
10: 75,145,670 (GRCm39) |
V1105A |
probably damaging |
Het |
| Ttyh2 |
T |
C |
11: 114,566,500 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,163,005 (GRCm39) |
C1029Y |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,568,063 (GRCm39) |
Y62C |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,547 (GRCm39) |
F2L |
probably benign |
Het |
| Xirp1 |
G |
T |
9: 119,848,819 (GRCm39) |
D21E |
possibly damaging |
Het |
| Zfp114 |
C |
A |
7: 23,880,460 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Zfp341 |
T |
C |
2: 154,476,114 (GRCm39) |
S441P |
probably damaging |
Het |
| Zfp780b |
A |
C |
7: 27,663,843 (GRCm39) |
H237Q |
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 |
|
P0041:Trak2
|
UTSW |
1 |
58,949,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGAACACTGAACAATGGCTAC -3'
(R):5'- TGGTTGCCTACTTTCAAAGAAC -3'
Sequencing Primer
(F):5'- CACTGAACAATGGCTACTAAATGCTG -3'
(R):5'- CACTACAGCTTGATAAGTGGAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation