Incidental Mutation 'R2318:Tinag'
| ID |
245562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tinag
|
| Ensembl Gene |
ENSMUSG00000032357 |
| Gene Name |
tubulointerstitial nephritis antigen |
| Synonyms |
TIN-ag |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R2318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76858975-76953076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76952693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 97
(Y97C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034911]
[ENSMUST00000184897]
|
| AlphaFold |
Q9WUR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034911
AA Change: Y97C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357
AA Change: Y97C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SO
|
58 |
105 |
1.68e-11 |
SMART |
|
Pept_C1
|
216 |
466 |
1.83e-52 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184488
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184897
AA Change: Y97C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139155
Gene: ENSMUSG00000032357
AA Change: Y97C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SO
|
58 |
105 |
1.68e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
G |
A |
8: 14,978,855 (GRCm39) |
A41T |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,463 (GRCm39) |
M158V |
probably benign |
Het |
| Cinp |
C |
A |
12: 110,840,443 (GRCm39) |
W113L |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,626,290 (GRCm39) |
|
probably null |
Het |
| Csnk2b |
T |
C |
17: 35,337,037 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Ddb1 |
C |
T |
19: 10,603,992 (GRCm39) |
R900C |
probably damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,673,065 (GRCm39) |
F876L |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| H4c4 |
A |
G |
13: 23,765,739 (GRCm39) |
Y52C |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,647,754 (GRCm39) |
D540G |
probably damaging |
Het |
| Mis18bp1 |
C |
T |
12: 65,187,617 (GRCm39) |
V829M |
possibly damaging |
Het |
| Mtus2 |
C |
T |
5: 148,043,892 (GRCm39) |
R827* |
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,273,277 (GRCm39) |
V860M |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,987,422 (GRCm39) |
E691G |
probably benign |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Sanbr |
A |
G |
11: 23,538,701 (GRCm39) |
Y66H |
probably damaging |
Het |
| Slc10a4-ps |
T |
C |
5: 72,743,638 (GRCm39) |
T27A |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,446,030 (GRCm39) |
S133P |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,259,562 (GRCm39) |
S62T |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,405,146 (GRCm39) |
Y766C |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,318,307 (GRCm39) |
V129A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,251,542 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Tinag |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01450:Tinag
|
APN |
9 |
76,952,858 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01524:Tinag
|
APN |
9 |
76,952,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01537:Tinag
|
APN |
9 |
76,952,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01832:Tinag
|
APN |
9 |
76,939,038 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02512:Tinag
|
APN |
9 |
76,939,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL02888:Tinag
|
APN |
9 |
76,938,995 (GRCm39) |
missense |
probably benign |
0.24 |
|
G1citation:Tinag
|
UTSW |
9 |
76,938,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0179:Tinag
|
UTSW |
9 |
76,904,164 (GRCm39) |
splice site |
probably benign |
|
|
R0200:Tinag
|
UTSW |
9 |
76,859,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Tinag
|
UTSW |
9 |
76,907,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Tinag
|
UTSW |
9 |
76,938,992 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0666:Tinag
|
UTSW |
9 |
76,912,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0685:Tinag
|
UTSW |
9 |
76,859,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Tinag
|
UTSW |
9 |
76,908,936 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1445:Tinag
|
UTSW |
9 |
76,952,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Tinag
|
UTSW |
9 |
76,859,187 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4747:Tinag
|
UTSW |
9 |
76,904,238 (GRCm39) |
missense |
probably benign |
|
|
R4781:Tinag
|
UTSW |
9 |
76,904,232 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5110:Tinag
|
UTSW |
9 |
76,859,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Tinag
|
UTSW |
9 |
76,912,913 (GRCm39) |
nonsense |
probably null |
|
|
R5605:Tinag
|
UTSW |
9 |
76,952,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Tinag
|
UTSW |
9 |
76,952,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Tinag
|
UTSW |
9 |
76,904,217 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6822:Tinag
|
UTSW |
9 |
76,938,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6915:Tinag
|
UTSW |
9 |
76,908,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Tinag
|
UTSW |
9 |
76,952,943 (GRCm39) |
missense |
probably benign |
|
|
R7334:Tinag
|
UTSW |
9 |
76,908,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Tinag
|
UTSW |
9 |
76,907,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8354:Tinag
|
UTSW |
9 |
76,938,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Tinag
|
UTSW |
9 |
76,938,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Tinag
|
UTSW |
9 |
76,934,296 (GRCm39) |
splice site |
probably benign |
|
|
R9072:Tinag
|
UTSW |
9 |
76,904,300 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9073:Tinag
|
UTSW |
9 |
76,904,300 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9508:Tinag
|
UTSW |
9 |
76,912,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tinag
|
UTSW |
9 |
76,952,780 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAATACTATGGGTGAGCAGGTGG -3'
(R):5'- TGAAGGTTCTCGGCACAAAAG -3'
Sequencing Primer
(F):5'- GGTGAGCAGGTGGAGAGG -3'
(R):5'- TCGGCACAAAAGGGCCATTTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation