Incidental Mutation 'R6822:Tinag'
ID 537676
Institutional Source Beutler Lab
Gene Symbol Tinag
Ensembl Gene ENSMUSG00000032357
Gene Name tubulointerstitial nephritis antigen
Synonyms TIN-ag
MMRRC Submission 044934-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6822 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 76858975-76953076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76938984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 165 (K165E)
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: K165E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357
AA Change: K165E

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: K165E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139155
Gene: ENSMUSG00000032357
AA Change: K165E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SO 58 105 1.68e-11 SMART
Meta Mutation Damage Score 0.0686 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (46/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 G A 11: 102,667,501 (GRCm39) R687Q possibly damaging Het
AI987944 A G 7: 41,024,232 (GRCm39) L249P probably damaging Het
Ankrd28 T A 14: 31,458,797 (GRCm39) probably null Het
Bahcc1 T C 11: 120,178,547 (GRCm39) S2369P probably damaging Het
Birc6 T C 17: 74,887,377 (GRCm39) S902P possibly damaging Het
Birc6 A T 17: 74,905,039 (GRCm39) K1277N probably damaging Het
Brwd1 T C 16: 95,842,474 (GRCm39) E821G probably benign Het
Cct8l1 T C 5: 25,722,937 (GRCm39) S551P possibly damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cyp2c39 A T 19: 39,525,261 (GRCm39) D188V probably damaging Het
Dclk3 G T 9: 111,268,405 (GRCm39) A25S probably benign Het
Dpep2 A T 8: 106,711,873 (GRCm39) M518K probably benign Het
Dst T C 1: 34,314,755 (GRCm39) V6462A probably damaging Het
Entpd3 T C 9: 120,391,104 (GRCm39) probably null Het
Epm2aip1 T C 9: 111,101,624 (GRCm39) V199A probably damaging Het
Fam193b A G 13: 55,689,504 (GRCm39) probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fcgbp T A 7: 27,806,781 (GRCm39) Y2250N probably damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
H2-Aa C T 17: 34,506,651 (GRCm39) probably null Het
Igsf9 T A 1: 172,324,730 (GRCm39) S883T possibly damaging Het
Kcnh7 T G 2: 62,618,248 (GRCm39) I414L probably damaging Het
Kcnma1 T C 14: 24,053,812 (GRCm39) probably null Het
Kcnmb1 T C 11: 33,914,686 (GRCm39) probably benign Het
Kmt2d A G 15: 98,747,340 (GRCm39) probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Map3k13 G A 16: 21,741,013 (GRCm39) S780N probably benign Het
Nlgn1 T C 3: 26,187,796 (GRCm39) T30A probably benign Het
Nucb1 A G 7: 45,148,289 (GRCm39) F175L probably damaging Het
Pax6 T A 2: 105,516,268 (GRCm39) V182E probably benign Het
Ptger1 A G 8: 84,395,279 (GRCm39) D252G probably benign Het
Rexo4 T C 2: 26,850,283 (GRCm39) D275G probably damaging Het
Ripk4 T C 16: 97,547,236 (GRCm39) D342G probably damaging Het
Rpl10l A T 12: 66,330,987 (GRCm39) C49S possibly damaging Het
Sema7a T C 9: 57,867,619 (GRCm39) F457S probably damaging Het
Shank3 G A 15: 89,415,830 (GRCm39) D155N probably damaging Het
Smpd3 G A 8: 106,992,596 (GRCm39) probably benign Het
Smpd4 T C 16: 17,458,097 (GRCm39) V465A probably damaging Het
Sohlh2 T C 3: 55,115,107 (GRCm39) V364A probably damaging Het
Sos2 C T 12: 69,697,423 (GRCm39) R99Q probably damaging Het
Spry2 G A 14: 106,130,791 (GRCm39) Q132* probably null Het
Tbx19 G T 1: 164,967,709 (GRCm39) P346Q probably damaging Het
Tdrd6 A G 17: 43,938,106 (GRCm39) Y981H probably damaging Het
Tubb4a A T 17: 57,387,904 (GRCm39) I374N probably damaging Het
Umodl1 C T 17: 31,205,528 (GRCm39) Q708* probably null Het
Vmn2r3 A T 3: 64,194,876 (GRCm39) V14E probably benign Het
Zfp82 G A 7: 29,755,712 (GRCm39) L457F 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
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
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
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'- TTCACCTTGTGTATCTGAAACACG -3'
(R):5'- GCAGCGTGTAATACAGGTTTTATG -3'

Sequencing Primer
(F):5'- GTGTATCTGAAACACGTTCCTC -3'
(R):5'- CCCTATAAAGGCCAAGGAC -3'
Posted On 2018-10-18