Incidental Mutation 'R1193:Tcaim'
| ID |
100949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaim
|
| Ensembl Gene |
ENSMUSG00000046603 |
| Gene Name |
T cell activation inhibitor, mitochondrial |
| Synonyms |
D9Ertd402e, LOC382117 |
| MMRRC Submission |
039265-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1193 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122634604-122665399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122647895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 137
(Y137H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052740]
[ENSMUST00000136274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052740
AA Change: Y137H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049759
Gene: ENSMUSG00000046603
AA Change: Y137H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4460
|
33 |
144 |
4.2e-40 |
PFAM |
|
Pfam:DUF4461
|
199 |
503 |
4.1e-124 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136274
|
| SMART Domains |
Protein: ENSMUSP00000120948
Gene: ENSMUSG00000046603
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4460
|
31 |
125 |
2.7e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207349
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,766,293 (GRCm39) |
D49G |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Gpm6a |
A |
T |
8: 55,500,268 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt5 |
G |
A |
2: 5,868,411 (GRCm39) |
S103N |
probably benign |
Het |
| Or5an9 |
A |
T |
19: 12,187,803 (GRCm39) |
Y291F |
probably damaging |
Het |
| Or6z3 |
A |
G |
7: 6,463,715 (GRCm39) |
N69S |
probably benign |
Het |
| Pds5a |
G |
T |
5: 65,795,145 (GRCm39) |
A697E |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,510,242 (GRCm39) |
D806G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,700,153 (GRCm39) |
A548T |
possibly damaging |
Het |
| Rfk |
C |
T |
19: 17,372,685 (GRCm39) |
P69L |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sp4 |
C |
T |
12: 118,262,981 (GRCm39) |
R355H |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,451 (GRCm39) |
T175A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,229 (GRCm39) |
K221E |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,800,653 (GRCm39) |
K428E |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,739 (GRCm39) |
Y108* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,406,614 (GRCm39) |
V202M |
probably benign |
Het |
|
| Other mutations in Tcaim |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01389:Tcaim
|
APN |
9 |
122,643,627 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01775:Tcaim
|
APN |
9 |
122,647,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Tcaim
|
UTSW |
9 |
122,647,897 (GRCm39) |
nonsense |
probably null |
|
|
R1592:Tcaim
|
UTSW |
9 |
122,647,838 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1639:Tcaim
|
UTSW |
9 |
122,647,838 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1642:Tcaim
|
UTSW |
9 |
122,647,838 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1853:Tcaim
|
UTSW |
9 |
122,655,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Tcaim
|
UTSW |
9 |
122,662,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4427:Tcaim
|
UTSW |
9 |
122,643,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6547:Tcaim
|
UTSW |
9 |
122,643,531 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6599:Tcaim
|
UTSW |
9 |
122,663,844 (GRCm39) |
nonsense |
probably null |
|
|
R6906:Tcaim
|
UTSW |
9 |
122,663,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7158:Tcaim
|
UTSW |
9 |
122,648,055 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7286:Tcaim
|
UTSW |
9 |
122,648,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7806:Tcaim
|
UTSW |
9 |
122,663,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Tcaim
|
UTSW |
9 |
122,647,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Tcaim
|
UTSW |
9 |
122,655,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Tcaim
|
UTSW |
9 |
122,637,830 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Tcaim
|
UTSW |
9 |
122,662,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACAAGATTCATCACAGGCAGAAC -3'
(R):5'- GAGACGTGTGTGAGGTCTTCATCAG -3'
Sequencing Primer
(F):5'- TTAGCTGGGATGGCACCTAC -3'
(R):5'- GGGTCCTTGAACCCAGTAAAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation