Incidental Mutation 'IGL03147:Trak2'
| ID |
453094 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03147 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58939608-59012589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58949222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 526
(T526M)
|
| 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: T526M
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: T526M
| 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: T526M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028
AA Change: T526M
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
91% (39/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,763 (GRCm39) |
S552P |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Deup1 |
A |
T |
9: 15,521,910 (GRCm39) |
M85K |
probably damaging |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,716,354 (GRCm39) |
Y157C |
probably damaging |
Het |
| Ext1 |
T |
A |
15: 52,951,468 (GRCm39) |
I539F |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,748,917 (GRCm39) |
V1849A |
possibly damaging |
Het |
| Gpr161 |
A |
G |
1: 165,144,877 (GRCm39) |
T389A |
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Mir205hg |
T |
A |
1: 193,189,768 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,309,342 (GRCm39) |
Y1318F |
probably damaging |
Het |
| Or4c120 |
A |
G |
2: 89,001,316 (GRCm39) |
M80T |
probably benign |
Het |
| Pml |
T |
C |
9: 58,137,326 (GRCm39) |
H491R |
possibly damaging |
Het |
| Rbmxl2 |
T |
G |
7: 106,808,858 (GRCm39) |
S48A |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,138,620 (GRCm39) |
D318G |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,302,286 (GRCm39) |
|
probably benign |
Het |
| Sfi1 |
G |
A |
11: 3,136,080 (GRCm39) |
T84I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,773,519 (GRCm39) |
M275V |
possibly damaging |
Het |
| Sp110 |
GC |
GCC |
1: 85,519,288 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,108 (GRCm39) |
V288A |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,732,377 (GRCm39) |
V118I |
probably damaging |
Het |
| St8sia2 |
C |
A |
7: 73,616,567 (GRCm39) |
C136F |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,993 (GRCm39) |
I21N |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,311 (GRCm39) |
K25231N |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,650 (GRCm39) |
I68F |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,140,638 (GRCm39) |
Y228* |
probably null |
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 |
|
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 |
|
|
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'- GGGTGCCAACATAACACAGGTC -3'
(R):5'- ATATGATTTTCCCACAGAAACTCGC -3'
Sequencing Primer
(F):5'- GTCTCAATTCTAGGAGAGACGTC -3'
(R):5'- ACAGAAACTCGCAGCCC -3'
|
| Posted On |
2017-01-27 |
Incidental Mutation