Incidental Mutation 'R5981:Trak2'
| ID |
481407 |
| 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 |
043250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5981 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58939608-59012589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58947849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 597
(V597E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027186]
[ENSMUST00000174120]
|
| AlphaFold |
Q6P9N8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027186
AA Change: V597E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: V597E
| 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 benign
Transcript: ENSMUST00000174120
AA Change: V597E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028
AA Change: V597E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
47 |
354 |
1.3e-129 |
PFAM |
|
Pfam:Milton
|
411 |
565 |
1.1e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,299 (GRCm39) |
Y251H |
probably benign |
Het |
| Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
| Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
| Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,863,307 (GRCm39) |
D104G |
possibly damaging |
Het |
| Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
| Ms4a1 |
T |
C |
19: 11,229,180 (GRCm39) |
E242G |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,580,177 (GRCm39) |
S59P |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,080,411 (GRCm39) |
S166P |
possibly damaging |
Het |
| Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,885,081 (GRCm39) |
Y60H |
probably damaging |
Het |
| Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
| Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTGTCCTGGTTACGACGAG -3'
(R):5'- GTTGTTGCTCACACAATTCTAGC -3'
Sequencing Primer
(F):5'- TTACGACGAGGCCATGTTCAG -3'
(R):5'- CAATTCTAGCTTCTTCAAGATTGGGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation