Incidental Mutation 'IGL01389:Tcaim'
| ID |
79144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcaim
|
| Ensembl Gene |
ENSMUSG00000046603 |
| Gene Name |
T cell activation inhibitor, mitochondrial |
| Synonyms |
D9Ertd402e, LOC382117 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122634604-122665399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122643627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 109
(E109G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052740]
[ENSMUST00000136274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052740
AA Change: E109G
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049759
Gene: ENSMUSG00000046603
AA Change: E109G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4460
|
33 |
144 |
4.2e-40 |
PFAM |
|
Pfam:DUF4461
|
199 |
503 |
4.1e-124 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136274
AA Change: E109G
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120948
Gene: ENSMUSG00000046603
AA Change: E109G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4460
|
31 |
125 |
2.7e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157461
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc163 |
T |
C |
4: 116,568,503 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
G |
7: 17,481,300 (GRCm39) |
V349G |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,656,197 (GRCm39) |
D169E |
probably benign |
Het |
| Cfh |
G |
T |
1: 140,082,377 (GRCm39) |
T150K |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,559,975 (GRCm39) |
M859V |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,629 (GRCm39) |
|
probably null |
Het |
| Crocc |
T |
C |
4: 140,749,423 (GRCm39) |
E1536G |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,588,652 (GRCm39) |
V67A |
probably benign |
Het |
| Dock11 |
T |
C |
X: 35,256,701 (GRCm39) |
V576A |
probably benign |
Het |
| Ighv1-85 |
A |
G |
12: 115,963,671 (GRCm39) |
S110P |
probably damaging |
Het |
| Lyg1 |
G |
A |
1: 37,989,011 (GRCm39) |
P70S |
probably damaging |
Het |
| Numbl |
T |
G |
7: 26,980,472 (GRCm39) |
F485V |
possibly damaging |
Het |
| Or4x6 |
A |
T |
2: 89,949,412 (GRCm39) |
C177S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,764,535 (GRCm39) |
E1051G |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,374,712 (GRCm39) |
S1808G |
possibly damaging |
Het |
| Rad51b |
T |
A |
12: 79,349,327 (GRCm39) |
H54Q |
probably benign |
Het |
| Rbbp7 |
T |
C |
X: 161,552,939 (GRCm39) |
|
probably benign |
Het |
| Rhbdl2 |
G |
T |
4: 123,723,450 (GRCm39) |
V285L |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,461,131 (GRCm39) |
M311K |
probably damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,870,407 (GRCm39) |
S93P |
probably damaging |
Het |
| Stt3b |
T |
C |
9: 115,082,968 (GRCm39) |
E488G |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,470,866 (GRCm39) |
H114R |
possibly damaging |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,659 (GRCm39) |
T184A |
probably damaging |
Het |
| Vmn2r2 |
G |
T |
3: 64,024,430 (GRCm39) |
T717N |
probably damaging |
Het |
| Vps25 |
C |
T |
11: 101,144,861 (GRCm39) |
Q20* |
probably null |
Het |
| Xiap |
T |
C |
X: 41,183,429 (GRCm39) |
F52L |
probably damaging |
Het |
|
| Other mutations in Tcaim |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01775:Tcaim
|
APN |
9 |
122,647,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1193:Tcaim
|
UTSW |
9 |
122,647,895 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation