Incidental Mutation 'IGL02714:Tacstd2'
| ID |
304689 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tacstd2
|
| Ensembl Gene |
ENSMUSG00000051397 |
| Gene Name |
tumor-associated calcium signal transducer 2 |
| Synonyms |
Ly97, TROP2, EGP-1, GA733-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
IGL02714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
67511046-67512780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67512053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 213
(I213N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058178]
|
| AlphaFold |
Q8BGV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058178
AA Change: I213N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060099
Gene: ENSMUSG00000051397
AA Change: I213N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
TY
|
99 |
143 |
1.04e-7 |
SMART |
|
transmembrane domain
|
269 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199480
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development, life expectancy and tumorigenesis. When combined with a Cdkn2a knock-out allele, mice exhibit increased incidence of induced spindle cell carcinoma and immortalized keratinocyte proliferation and migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
T |
A |
7: 19,492,732 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,290 (GRCm39) |
D59G |
possibly damaging |
Het |
| Ckmt2 |
A |
G |
13: 92,006,427 (GRCm39) |
M306T |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,220,542 (GRCm39) |
E744G |
probably damaging |
Het |
| Gpr139 |
T |
A |
7: 118,744,342 (GRCm39) |
D81V |
possibly damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,368 (GRCm39) |
|
probably null |
Het |
| Ly9 |
A |
G |
1: 171,432,686 (GRCm39) |
V109A |
possibly damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,346,867 (GRCm39) |
S1806T |
probably benign |
Het |
| Met |
T |
A |
6: 17,491,851 (GRCm39) |
Y204* |
probably null |
Het |
| Or8b35 |
T |
A |
9: 37,904,382 (GRCm39) |
I198N |
possibly damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,568 (GRCm39) |
S798P |
possibly damaging |
Het |
| Ppp2r5b |
C |
T |
19: 6,284,737 (GRCm39) |
R42H |
probably damaging |
Het |
| Prg2 |
T |
A |
2: 84,813,849 (GRCm39) |
I220N |
probably damaging |
Het |
| Prph |
A |
G |
15: 98,954,747 (GRCm39) |
D271G |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,348,424 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,594,458 (GRCm39) |
Y157H |
possibly damaging |
Het |
| Tlr12 |
A |
G |
4: 128,511,506 (GRCm39) |
L248P |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,260 (GRCm39) |
I1268N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,895,976 (GRCm39) |
G220D |
probably damaging |
Het |
|
| Other mutations in Tacstd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01632:Tacstd2
|
APN |
6 |
67,511,783 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0948:Tacstd2
|
UTSW |
6 |
67,512,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2697:Tacstd2
|
UTSW |
6 |
67,512,203 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3735:Tacstd2
|
UTSW |
6 |
67,511,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Tacstd2
|
UTSW |
6 |
67,512,128 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4614:Tacstd2
|
UTSW |
6 |
67,512,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5615:Tacstd2
|
UTSW |
6 |
67,512,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Tacstd2
|
UTSW |
6 |
67,512,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Tacstd2
|
UTSW |
6 |
67,511,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7815:Tacstd2
|
UTSW |
6 |
67,512,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8051:Tacstd2
|
UTSW |
6 |
67,512,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation