Incidental Mutation 'R6247:Tinagl1'
ID 505676
Institutional Source Beutler Lab
Gene Symbol Tinagl1
Ensembl Gene ENSMUSG00000028776
Gene Name tubulointerstitial nephritis antigen-like 1
Synonyms androgen-regulated gene 1, Lcn7, AZ-1, Arg1, 1110021J17Rik
MMRRC Submission 044366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R6247 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 130059393-130068915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130066725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 124 (C124Y)
Ref Sequence ENSEMBL: ENSMUSP00000135453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030560] [ENSMUST00000105998] [ENSMUST00000105999] [ENSMUST00000132545] [ENSMUST00000175992]
AlphaFold Q99JR5
Predicted Effect probably damaging
Transcript: ENSMUST00000030560
AA Change: C124Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030560
Gene: ENSMUSG00000028776
AA Change: C124Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SO 50 95 2.13e-2 SMART
Pept_C1 202 455 2.62e-62 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105998
AA Change: C124Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101620
Gene: ENSMUSG00000028776
AA Change: C124Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SO 50 95 2.13e-2 SMART
Pept_C1 202 455 2.62e-62 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105999
AA Change: C124Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101621
Gene: ENSMUSG00000028776
AA Change: C124Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SO 50 95 2.13e-2 SMART
Pept_C1 202 455 2.62e-62 SMART
Predicted Effect probably null
Transcript: ENSMUST00000132545
AA Change: C124Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135453
Gene: ENSMUSG00000028776
AA Change: C124Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SO 50 95 2.13e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175822
Predicted Effect probably null
Transcript: ENSMUST00000175992
AA Change: W124*
SMART Domains Protein: ENSMUSP00000134900
Gene: ENSMUSG00000028776
AA Change: W124*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SO 50 95 2.13e-2 SMART
Pept_C1 171 424 2.62e-62 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Female mice homozygous for a null mutation display impaired fertility and homozygous pups born to homozygous females show impaired postnatal survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,049,768 (GRCm39) D871G probably benign Het
A4galt G T 15: 83,112,020 (GRCm39) H254Q probably damaging Het
AA986860 C A 1: 130,670,780 (GRCm39) T334K possibly damaging Het
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Abcf1 C T 17: 36,271,956 (GRCm39) D353N probably damaging Het
Adss1 A G 12: 112,594,790 (GRCm39) H83R probably damaging Het
Amer2 C A 14: 60,616,321 (GRCm39) A172E probably damaging Het
Ankhd1 A G 18: 36,787,199 (GRCm39) T2300A probably benign Het
Ano5 G A 7: 51,215,879 (GRCm39) probably null Het
Apob G A 12: 8,051,801 (GRCm39) G1109D probably damaging Het
Arhgef26 A T 3: 62,288,381 (GRCm39) N484Y probably damaging Het
C6 A G 15: 4,793,023 (GRCm39) D376G probably damaging Het
Caml T C 13: 55,772,986 (GRCm39) probably null Het
Capn12 T C 7: 28,588,077 (GRCm39) L473S probably benign Het
Cdk6 G A 5: 3,394,553 (GRCm39) probably null Het
Cers5 A T 15: 99,643,805 (GRCm39) C153S probably benign Het
Cfap206 T C 4: 34,692,530 (GRCm39) M499V probably benign Het
Chd6 A G 2: 160,791,968 (GRCm39) M2463T probably damaging Het
Chn1 T C 2: 73,537,350 (GRCm39) E58G possibly damaging Het
Clec4a1 T C 6: 122,905,001 (GRCm39) V100A probably benign Het
Col7a1 G C 9: 108,810,130 (GRCm39) probably benign Het
Csmd1 A G 8: 16,246,249 (GRCm39) V1050A possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd5a A T 7: 109,497,889 (GRCm39) C1044S probably damaging Het
Dnah7b A G 1: 46,265,048 (GRCm39) T2181A probably benign Het
Dnai1 T C 4: 41,605,775 (GRCm39) V255A probably benign Het
Dync2h1 A G 9: 7,135,078 (GRCm39) C1518R probably damaging Het
Dysf T C 6: 84,043,981 (GRCm39) V273A probably damaging Het
Eif1 C T 11: 100,211,223 (GRCm39) probably benign Het
Eml3 T C 19: 8,908,313 (GRCm39) I58T probably benign Het
Fam171b T A 2: 83,709,552 (GRCm39) I408N probably damaging Het
Fchsd2 A G 7: 100,902,747 (GRCm39) E351G probably benign Het
Focad G A 4: 88,325,377 (GRCm39) A81T possibly damaging Het
Fpr-rs4 G A 17: 18,242,748 (GRCm39) V252I probably benign Het
Fryl A G 5: 73,222,824 (GRCm39) L1919P probably damaging Het
Gm12185 C T 11: 48,806,735 (GRCm39) R152H probably damaging Het
Gm14410 C T 2: 176,885,517 (GRCm39) G249E probably damaging Het
Gm6685 A T 11: 28,289,706 (GRCm39) S37T possibly damaging Het
Greb1 G A 12: 16,766,676 (GRCm39) P374L probably damaging Het
Hdac4 A T 1: 91,940,560 (GRCm39) probably null Het
Hecw1 A T 13: 14,409,010 (GRCm39) L1099* probably null Het
Hivep1 T C 13: 42,310,966 (GRCm39) S1069P probably benign Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Kif9 A G 9: 110,317,612 (GRCm39) M96V possibly damaging Het
Kncn T A 4: 115,741,987 (GRCm39) V18E probably damaging Het
Lrrc74a G A 12: 86,805,330 (GRCm39) G384D probably damaging Het
Ltb4r2 T C 14: 56,000,108 (GRCm39) V243A probably damaging Het
Mtnr1b T A 9: 15,774,082 (GRCm39) I326L probably benign Het
Mylip C T 13: 45,561,957 (GRCm39) T253I probably damaging Het
Necap1 T A 6: 122,857,611 (GRCm39) probably null Het
Nedd4 C T 9: 72,633,720 (GRCm39) P409S probably damaging Het
Npat A T 9: 53,456,538 (GRCm39) E36D probably damaging Het
Ovch2 C T 7: 107,384,648 (GRCm39) V490M probably damaging Het
Pax9 T C 12: 56,756,480 (GRCm39) S273P probably benign Het
Plce1 A G 19: 38,734,289 (GRCm39) E1563G probably damaging Het
Podxl2 C A 6: 88,826,299 (GRCm39) G336* probably null Het
Prdm1 A G 10: 44,322,782 (GRCm39) probably null Het
Psme4 T C 11: 30,803,245 (GRCm39) I29T possibly damaging Het
Ptprd A T 4: 75,984,528 (GRCm39) D780E probably benign Het
Retsat T C 6: 72,581,918 (GRCm39) M294T probably benign Het
Robo2 A T 16: 73,764,672 (GRCm39) V652D probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Serpinb3d G T 1: 107,010,490 (GRCm39) T66K probably benign Het
Setd1b A T 5: 123,296,461 (GRCm39) probably benign Het
Slc7a10 G T 7: 34,886,012 (GRCm39) A36S possibly damaging Het
Sstr3 T A 15: 78,423,788 (GRCm39) I320F probably damaging Het
Syne1 G T 10: 5,299,071 (GRCm39) A1005E probably damaging Het
Syngap1 C A 17: 27,181,931 (GRCm39) S975* probably null Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmed2 T A 5: 124,685,055 (GRCm39) I68K possibly damaging Het
Tmem104 A G 11: 115,134,819 (GRCm39) T451A probably benign Het
Tmem141 T C 2: 25,511,693 (GRCm39) probably null Het
Tmem184a C A 5: 139,798,827 (GRCm39) V41L probably benign Het
Tmem39b C T 4: 129,580,584 (GRCm39) V303I possibly damaging Het
Tsn T C 1: 118,232,939 (GRCm39) I122V probably benign Het
Ttc41 G T 10: 86,612,527 (GRCm39) V1267L probably benign Het
Uggt1 A T 1: 36,202,309 (GRCm39) L1096Q probably damaging Het
Usp50 A T 2: 126,617,713 (GRCm39) I244N probably benign Het
Vil1 A G 1: 74,471,498 (GRCm39) S760G probably benign Het
Wasf1 T A 10: 40,813,741 (GRCm39) V541E unknown Het
Zc3h13 G T 14: 75,581,176 (GRCm39) S1721I probably benign Het
Zfp180 G T 7: 23,804,530 (GRCm39) K316N probably damaging Het
Zfp582 T C 7: 6,356,945 (GRCm39) C253R probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp759 A G 13: 67,288,524 (GRCm39) T692A probably benign Het
Zfyve26 A G 12: 79,329,758 (GRCm39) V476A probably benign Het
Other mutations in Tinagl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01908:Tinagl1 APN 4 130,061,223 (GRCm39) missense probably damaging 1.00
IGL01935:Tinagl1 APN 4 130,061,794 (GRCm39) missense probably damaging 1.00
R0125:Tinagl1 UTSW 4 130,060,101 (GRCm39) missense probably damaging 1.00
R0893:Tinagl1 UTSW 4 130,067,816 (GRCm39) missense probably damaging 1.00
R1731:Tinagl1 UTSW 4 130,061,842 (GRCm39) missense probably benign
R2020:Tinagl1 UTSW 4 130,060,765 (GRCm39) missense probably damaging 1.00
R2264:Tinagl1 UTSW 4 130,061,226 (GRCm39) missense probably benign 0.00
R2281:Tinagl1 UTSW 4 130,060,786 (GRCm39) missense probably damaging 1.00
R4786:Tinagl1 UTSW 4 130,067,724 (GRCm39) missense probably benign 0.21
R5058:Tinagl1 UTSW 4 130,061,250 (GRCm39) missense probably benign
R5908:Tinagl1 UTSW 4 130,066,763 (GRCm39) nonsense probably null
R6608:Tinagl1 UTSW 4 130,066,782 (GRCm39) missense probably benign 0.00
R7699:Tinagl1 UTSW 4 130,061,832 (GRCm39) missense probably benign 0.36
R8109:Tinagl1 UTSW 4 130,063,123 (GRCm39) missense probably damaging 0.99
R8351:Tinagl1 UTSW 4 130,061,376 (GRCm39) missense probably damaging 0.99
R8446:Tinagl1 UTSW 4 130,060,694 (GRCm39) critical splice donor site probably null
R8451:Tinagl1 UTSW 4 130,061,376 (GRCm39) missense probably damaging 0.99
R8671:Tinagl1 UTSW 4 130,061,597 (GRCm39) missense probably benign 0.04
R9008:Tinagl1 UTSW 4 130,067,823 (GRCm39) missense probably damaging 1.00
R9227:Tinagl1 UTSW 4 130,061,271 (GRCm39) missense probably benign 0.42
Z1176:Tinagl1 UTSW 4 130,060,107 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CTCCCAGGCTTGTGACTAGAATC -3'
(R):5'- TGTGTGATTACCACCAGCTCG -3'

Sequencing Primer
(F):5'- CTTATTATATGAGATGGCGTGGTCAG -3'
(R):5'- ATTACCACCAGCTCGGGAGG -3'
Posted On 2018-02-28