Incidental Mutation 'R0206:Tinag'
ID 35468
Institutional Source Beutler Lab
Gene Symbol Tinag
Ensembl Gene ENSMUSG00000032357
Gene Name tubulointerstitial nephritis antigen
Synonyms TIN-ag
MMRRC Submission 038459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0206 (G1)
Quality Score 189
Status Validated
Chromosome 9
Chromosomal Location 76858975-76953076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76907134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 367 (I367T)
Ref Sequence ENSEMBL: ENSMUSP00000034911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034911] [ENSMUST00000184897]
AlphaFold Q9WUR0
Predicted Effect probably damaging
Transcript: ENSMUST00000034911
AA Change: I367T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357
AA Change: I367T

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
SMART Domains Protein: ENSMUSP00000139155
Gene: ENSMUSG00000032357

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SO 58 105 1.68e-11 SMART
Meta Mutation Damage Score 0.6886 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 99% (83/84)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,470,486 (GRCm39) T165I probably benign Het
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Acsl5 A G 19: 55,269,001 (GRCm39) K221E probably benign Het
Adam26a A C 8: 44,023,455 (GRCm39) F12V possibly damaging Het
Adgrb2 T C 4: 129,886,352 (GRCm39) L164P probably damaging Het
Aldh1l1 T C 6: 90,546,848 (GRCm39) F384L possibly damaging Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Btbd8 A G 5: 107,652,906 (GRCm39) T304A probably benign Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdca3 C T 6: 124,809,514 (GRCm39) probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Cit A T 5: 116,132,089 (GRCm39) N1782Y possibly damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Csgalnact2 T G 6: 118,091,347 (GRCm39) Q197P probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Ddt A G 10: 75,608,719 (GRCm39) M1T probably null Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gabra6 C T 11: 42,207,906 (GRCm39) W188* probably null Het
Gnptab A T 10: 88,275,372 (GRCm39) H1111L probably damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Inhca A G 9: 103,159,861 (GRCm39) C5R probably damaging Het
Inpp5k T C 11: 75,521,969 (GRCm39) I15T probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Kctd8 A T 5: 69,498,508 (GRCm39) V46E probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Me3 A T 7: 89,498,868 (GRCm39) T483S probably benign Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mvk C T 5: 114,597,035 (GRCm39) T334M probably damaging Het
Mxra8 T A 4: 155,927,053 (GRCm39) I329N probably damaging Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Myom1 T C 17: 71,344,292 (GRCm39) S266P probably damaging Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or52b1 A T 7: 104,979,090 (GRCm39) M103K possibly damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or6f1 T C 7: 85,970,854 (GRCm39) Y102C probably benign Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Pomgnt1 T C 4: 116,015,757 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Psme3ip1 A G 8: 95,314,639 (GRCm39) F73S probably damaging Het
Rlig1 T A 10: 100,422,056 (GRCm39) K69* probably null Het
Rmdn2 T A 17: 79,957,716 (GRCm39) probably benign Het
Ryr2 A G 13: 11,691,137 (GRCm39) probably benign Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Slc1a3 A G 15: 8,738,040 (GRCm39) probably benign Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Snx33 G A 9: 56,833,508 (GRCm39) S187L probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ube4b T C 4: 149,483,094 (GRCm39) H58R probably benign Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Usp28 A G 9: 48,939,569 (GRCm39) Y275C probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Vps13c A G 9: 67,846,444 (GRCm39) probably benign Het
Vwf T C 6: 125,614,419 (GRCm39) F1100S probably damaging Het
Zfp318 G T 17: 46,709,945 (GRCm39) R556L probably benign Het
Zkscan1 T A 5: 138,099,448 (GRCm39) C391S 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
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
Predicted Primers PCR Primer
(F):5'- ACGCATTTCTAAGGCCACCTAAACTG -3'
(R):5'- GGTGCATGTGACCATTTCAAAGCAG -3'

Sequencing Primer
(F):5'- GTCAACAGAAGCTCATGATATGC -3'
(R):5'- TGTGACCATTTCAAAGCAGTACAAC -3'
Posted On 2013-05-09