Incidental Mutation 'IGL01832:Tinag'
ID 154795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tinag
Ensembl Gene ENSMUSG00000032357
Gene Name tubulointerstitial nephritis antigen
Synonyms TIN-ag
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01832
Quality Score
Status
Chromosome 9
Chromosomal Location 76858975-76953076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76939038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 147 (K147E)
Ref Sequence ENSEMBL: ENSMUSP00000139155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034911] [ENSMUST00000184897]
AlphaFold Q9WUR0
Predicted Effect probably benign
Transcript: ENSMUST00000034911
AA Change: K147E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357
AA Change: K147E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SO 58 105 1.68e-11 SMART
Pept_C1 216 466 1.83e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184897
AA Change: K147E

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139155
Gene: ENSMUSG00000032357
AA Change: K147E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SO 58 105 1.68e-11 SMART
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Tinag
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R2318:Tinag UTSW 9 76,952,693 (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
Posted On 2014-02-04