Incidental Mutation 'R6599:Tcaim'
| ID |
525131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaim
|
| Ensembl Gene |
ENSMUSG00000046603 |
| Gene Name |
T cell activation inhibitor, mitochondrial |
| Synonyms |
D9Ertd402e, LOC382117 |
| MMRRC Submission |
044723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6599 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122634604-122665399 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 122663844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 445
(Q445*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052740]
[ENSMUST00000136274]
[ENSMUST00000203176]
[ENSMUST00000203656]
[ENSMUST00000204619]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052740
AA Change: Q445*
|
| SMART Domains |
Protein: ENSMUSP00000049759
Gene: ENSMUSG00000046603
AA Change: Q445*
| 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 |
probably benign
Transcript: ENSMUST00000203176
|
| SMART Domains |
Protein: ENSMUSP00000145415
Gene: ENSMUSG00000107504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203656
|
| SMART Domains |
Protein: ENSMUSP00000144807
Gene: ENSMUSG00000107504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204619
|
| SMART Domains |
Protein: ENSMUSP00000145500
Gene: ENSMUSG00000107504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207349
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
94% (32/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
| Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
| Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
| Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
| Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
| Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
| Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
| Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
| Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
| Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
| Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
| Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
| Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
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 |
|
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 |
|
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'- GGGAACTCTTGACATGTCTTTTCAC -3'
(R):5'- AGCAGCAGTTAGACACTTTGTTC -3'
Sequencing Primer
(F):5'- AGAGAGTGTACCATCACCC -3'
(R):5'- CAGATATCTGTGTTACTTCATGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation