Incidental Mutation 'R5730:Trak2'
ID |
452696 |
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 |
043191-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5730 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58939608-59012589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58960966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 188
(D188G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027186]
[ENSMUST00000173590]
[ENSMUST00000174120]
|
AlphaFold |
Q6P9N8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027186
AA Change: D188G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027186 Gene: ENSMUSG00000026028 AA Change: D188G
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 |
probably damaging
Transcript: ENSMUST00000174120
AA Change: D188G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134253 Gene: ENSMUSG00000026028 AA Change: D188G
Domain | Start | End | E-Value | Type |
Pfam:HAP1_N
|
47 |
354 |
1.3e-129 |
PFAM |
Pfam:Milton
|
411 |
565 |
1.1e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174359
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,987,617 (GRCm39) |
V2967A |
possibly damaging |
Het |
Apaf1 |
A |
T |
10: 90,856,633 (GRCm39) |
I858K |
possibly damaging |
Het |
Baiap3 |
T |
C |
17: 25,466,498 (GRCm39) |
T466A |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,492,470 (GRCm39) |
S3162T |
possibly damaging |
Het |
Brd1 |
T |
G |
15: 88,601,248 (GRCm39) |
N462T |
probably benign |
Het |
Carm1 |
G |
A |
9: 21,491,636 (GRCm39) |
R235H |
probably benign |
Het |
Cd80 |
T |
C |
16: 38,303,097 (GRCm39) |
|
probably null |
Het |
Clip4 |
A |
G |
17: 72,117,954 (GRCm39) |
Y333C |
probably damaging |
Het |
Col7a1 |
T |
C |
9: 108,801,310 (GRCm39) |
|
probably null |
Het |
Csmd1 |
G |
A |
8: 16,235,206 (GRCm39) |
Q1206* |
probably null |
Het |
Cyp17a1 |
A |
G |
19: 46,661,095 (GRCm39) |
I63T |
possibly damaging |
Het |
Diaph1 |
A |
G |
18: 38,036,829 (GRCm39) |
Y119H |
unknown |
Het |
Dst |
T |
G |
1: 34,156,607 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
A |
G |
8: 26,063,827 (GRCm39) |
T785A |
probably damaging |
Het |
Gm1553 |
A |
G |
10: 82,323,945 (GRCm39) |
F94S |
unknown |
Het |
Gpbar1 |
A |
G |
1: 74,318,195 (GRCm39) |
N146S |
probably damaging |
Het |
Gpc5 |
A |
G |
14: 116,025,726 (GRCm39) |
T588A |
possibly damaging |
Het |
Gramd2a |
A |
G |
9: 59,618,489 (GRCm39) |
H9R |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,424,199 (GRCm39) |
S6N |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,419,703 (GRCm39) |
S969P |
probably benign |
Het |
Lyz2 |
G |
T |
10: 117,114,587 (GRCm39) |
A114E |
probably damaging |
Het |
Madd |
T |
C |
2: 90,988,454 (GRCm39) |
D1193G |
probably damaging |
Het |
Mrpl39 |
C |
T |
16: 84,529,322 (GRCm39) |
G107R |
probably damaging |
Het |
Mthfd2 |
C |
T |
6: 83,294,441 (GRCm39) |
R24H |
probably benign |
Het |
Or2q1 |
C |
T |
6: 42,795,094 (GRCm39) |
R230* |
probably null |
Het |
Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
Ovch2 |
A |
G |
7: 107,392,606 (GRCm39) |
C246R |
probably damaging |
Het |
Phf14 |
A |
T |
6: 11,953,319 (GRCm39) |
I353F |
possibly damaging |
Het |
Ppp2r5a |
C |
T |
1: 191,104,732 (GRCm39) |
V105I |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,950,947 (GRCm39) |
T1949A |
probably damaging |
Het |
Prss48 |
T |
G |
3: 85,904,563 (GRCm39) |
M212L |
possibly damaging |
Het |
Pstk |
A |
T |
7: 130,975,503 (GRCm39) |
D152V |
probably damaging |
Het |
Scn2a |
C |
A |
2: 65,512,882 (GRCm39) |
S214* |
probably null |
Het |
Scn3a |
T |
G |
2: 65,325,604 (GRCm39) |
N971T |
probably benign |
Het |
Syne3 |
T |
C |
12: 104,927,713 (GRCm39) |
I250V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,907,768 (GRCm39) |
D516G |
probably benign |
Het |
Tcea3 |
T |
C |
4: 135,992,204 (GRCm39) |
V209A |
probably benign |
Het |
Tnr |
A |
G |
1: 159,715,892 (GRCm39) |
S885G |
probably benign |
Het |
Tubb1 |
A |
G |
2: 174,299,562 (GRCm39) |
I415V |
probably benign |
Het |
Virma |
T |
A |
4: 11,542,154 (GRCm39) |
M1580K |
probably benign |
Het |
Vmn1r120 |
A |
T |
7: 20,786,934 (GRCm39) |
I259N |
possibly damaging |
Het |
Vmn1r64 |
G |
A |
7: 5,887,522 (GRCm39) |
T7I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCTACGCACTCAGCAAG -3'
(R):5'- TAGCATCTGATGGAAAACCAACTG -3'
Sequencing Primer
(F):5'- GATGCTATGCTGGGTCTCACC -3'
(R):5'- CCAACTGTTCCGTGAATTAGGAGC -3'
|
Posted On |
2017-01-03 |