Incidental Mutation 'R2264:Tinagl1'
ID 243983
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 040264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R2264 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130059393-130068915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130061226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 308 (V308A)
Ref Sequence ENSEMBL: ENSMUSP00000134900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030560] [ENSMUST00000105998] [ENSMUST00000105999] [ENSMUST00000132545] [ENSMUST00000175992]
AlphaFold Q99JR5
Predicted Effect probably benign
Transcript: ENSMUST00000030560
AA Change: V339A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030560
Gene: ENSMUSG00000028776
AA Change: V339A

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 benign
Transcript: ENSMUST00000105998
AA Change: V339A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101620
Gene: ENSMUSG00000028776
AA Change: V339A

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 benign
Transcript: ENSMUST00000105999
AA Change: V339A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101621
Gene: ENSMUSG00000028776
AA Change: V339A

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 benign
Transcript: ENSMUST00000132545
SMART Domains Protein: ENSMUSP00000135453
Gene: ENSMUSG00000028776

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SO 50 95 2.13e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175822
Predicted Effect probably benign
Transcript: ENSMUST00000175992
AA Change: V308A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134900
Gene: ENSMUSG00000028776
AA Change: V308A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SO 50 95 2.13e-2 SMART
Pept_C1 171 424 2.62e-62 SMART
Meta Mutation Damage Score 0.1281 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 94% (65/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,100 (GRCm39) S1042P probably damaging Het
Armc1 C T 3: 19,189,033 (GRCm39) V211I probably damaging Het
B4galnt3 T C 6: 120,180,771 (GRCm39) *986W probably null Het
BC024139 T A 15: 76,010,117 (GRCm39) D105V probably damaging Het
BC049715 C T 6: 136,817,434 (GRCm39) Q225* probably null Het
Cadps2 T C 6: 23,323,339 (GRCm39) H1043R probably benign Het
Ccdc42 T C 11: 68,478,477 (GRCm39) V33A probably benign Het
Cldn1 A G 16: 26,177,949 (GRCm39) Y159H probably damaging Het
Cog6 A T 3: 52,900,332 (GRCm39) C476* probably null Het
Col14a1 T G 15: 55,330,086 (GRCm39) probably null Het
Crisp1 C T 17: 40,623,965 (GRCm39) M1I probably null Het
Dip2b T A 15: 100,101,097 (GRCm39) S1297T probably benign Het
Dlgap4 A G 2: 156,543,383 (GRCm39) E262G probably benign Het
Dnai7 A G 6: 145,154,155 (GRCm39) probably benign Het
Dpp4 A C 2: 62,208,583 (GRCm39) V187G possibly damaging Het
F5 A G 1: 164,021,971 (GRCm39) D1482G probably benign Het
Fads6 T A 11: 115,177,061 (GRCm39) T132S probably damaging Het
Fat4 A G 3: 38,944,571 (GRCm39) I1155V probably benign Het
Fermt1 C T 2: 132,757,110 (GRCm39) probably null Het
Fstl1 C T 16: 37,597,653 (GRCm39) probably benign Het
Get3 G A 8: 85,751,887 (GRCm39) probably benign Het
Gm5089 T C 14: 122,673,514 (GRCm39) Y69C unknown Het
Gm9871 T C 6: 101,773,201 (GRCm39) noncoding transcript Het
Gpr89 A G 3: 96,779,831 (GRCm39) S375P probably damaging Het
Gtf2h4 A G 17: 35,979,556 (GRCm39) probably benign Het
Gtsf1 T A 15: 103,328,391 (GRCm39) N148I possibly damaging Het
Hexa T C 9: 59,462,660 (GRCm39) S129P probably damaging Het
Iigp1 A T 18: 60,523,738 (GRCm39) E285D probably benign Het
Il23r T A 6: 67,403,651 (GRCm39) probably null Het
Iqch T C 9: 63,419,581 (GRCm39) K463R probably benign Het
Kcnd1 A G X: 7,690,323 (GRCm39) probably null Het
Kif26b A T 1: 178,756,407 (GRCm39) probably null Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Lrp2 T C 2: 69,312,710 (GRCm39) D2526G possibly damaging Het
Map4 G T 9: 109,910,525 (GRCm39) G851C probably damaging Het
Mtmr11 A T 3: 96,076,413 (GRCm39) E456V possibly damaging Het
Muc13 G A 16: 33,628,409 (GRCm39) probably null Het
Myo18a C A 11: 77,710,798 (GRCm39) probably benign Het
Nphp4 T A 4: 152,587,465 (GRCm39) probably benign Het
Nrg3 T C 14: 38,103,659 (GRCm39) E445G probably damaging Het
Ntrk1 A G 3: 87,686,941 (GRCm39) probably null Het
Or8b1 G T 9: 38,399,351 (GRCm39) V9L possibly damaging Het
Parp6 T C 9: 59,531,288 (GRCm39) S57P probably damaging Het
Pcdhb12 A G 18: 37,569,858 (GRCm39) N335D probably damaging Het
Pdzph1 T C 17: 59,195,162 (GRCm39) probably null Het
Pea15a C T 1: 172,026,704 (GRCm39) R79H probably benign Het
Pik3ca A C 3: 32,492,076 (GRCm39) I225L possibly damaging Het
Pim3 T A 15: 88,748,793 (GRCm39) I270N probably damaging Het
Pkd1l1 T A 11: 8,829,112 (GRCm39) R1043S probably damaging Het
Plekhg6 A G 6: 125,354,431 (GRCm39) S70P probably benign Het
Ptpn13 T A 5: 103,637,527 (GRCm39) D138E possibly damaging Het
Rap1gap T C 4: 137,455,034 (GRCm39) L354P probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sf3a1 T A 11: 4,127,443 (GRCm39) S590T probably benign Het
Slc14a2 T C 18: 78,206,304 (GRCm39) probably benign Het
Slfn3 T G 11: 83,103,798 (GRCm39) I223S probably benign Het
Smarca1 C T X: 46,964,160 (GRCm39) V331I probably benign Het
Soat1 A G 1: 156,265,267 (GRCm39) probably benign Het
Tomm22 T A 15: 79,555,488 (GRCm39) Y78N probably damaging Het
Ttll1 T C 15: 83,380,609 (GRCm39) Y252C probably damaging Het
Ttn C T 2: 76,623,474 (GRCm39) V15368I probably benign Het
Ubr4 T C 4: 139,147,684 (GRCm39) probably benign Het
Wbp2 T C 11: 115,970,424 (GRCm39) probably null Het
Xkr7 A T 2: 152,896,177 (GRCm39) I344F probably damaging Het
Zfp947 A T 17: 22,364,919 (GRCm39) C252S 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
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
R6247:Tinagl1 UTSW 4 130,066,725 (GRCm39) missense probably null 1.00
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'- TCTGGAACCAGAGAAAGCCTGG -3'
(R):5'- AGCGCTATGGCTCTTGCTTC -3'

Sequencing Primer
(F):5'- AAGCCTGGGGATGGTTACC -3'
(R):5'- CTTTCTCTAGGGTGGTGTCTGACAAC -3'
Posted On 2014-10-16