Incidental Mutation 'R2281:Tinagl1'
ID 243106
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 040280-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R2281 (G1)
Quality Score 205
Status Not validated
Chromosome 4
Chromosomal Location 130059393-130068915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130060786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 344 (Y344H)
Ref Sequence ENSEMBL: ENSMUSP00000134900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030560] [ENSMUST00000105998] [ENSMUST00000105999] [ENSMUST00000132545] [ENSMUST00000175992]
AlphaFold Q99JR5
Predicted Effect probably damaging
Transcript: ENSMUST00000030560
AA Change: Y375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030560
Gene: ENSMUSG00000028776
AA Change: Y375H

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 damaging
Transcript: ENSMUST00000105998
AA Change: Y375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101620
Gene: ENSMUSG00000028776
AA Change: Y375H

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 damaging
Transcript: ENSMUST00000105999
AA Change: Y375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101621
Gene: ENSMUSG00000028776
AA Change: Y375H

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 damaging
Transcript: ENSMUST00000175992
AA Change: Y344H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134900
Gene: ENSMUSG00000028776
AA Change: Y344H

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,352,179 (GRCm39) L228S probably damaging Het
Abca13 A T 11: 9,278,136 (GRCm39) K3105N probably damaging Het
Abca3 T A 17: 24,595,700 (GRCm39) L351Q possibly damaging Het
Acadm A G 3: 153,638,680 (GRCm39) I231T possibly damaging Het
Adamts4 A T 1: 171,083,798 (GRCm39) Q456L probably damaging Het
Adgra3 C T 5: 50,159,222 (GRCm39) V343I probably benign Het
Ajuba C A 14: 54,814,645 (GRCm39) G26V probably damaging Het
Aldh1a1 A G 19: 20,597,455 (GRCm39) I145M possibly damaging Het
Ankrd42 G A 7: 92,274,981 (GRCm39) Q110* probably null Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3d1 T C 10: 80,549,832 (GRCm39) D771G probably damaging Het
Arhgap30 A G 1: 171,216,896 (GRCm39) D21G probably damaging Het
Atg13 T C 2: 91,509,770 (GRCm39) N374S probably benign Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cdh5 A G 8: 104,852,365 (GRCm39) E160G probably damaging Het
Cpd T C 11: 76,688,627 (GRCm39) K882E probably benign Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp27b1 T G 10: 126,884,163 (GRCm39) V5G probably damaging Het
Dcaf11 G T 14: 55,806,828 (GRCm39) *550Y probably null Het
Dhx58 A G 11: 100,588,980 (GRCm39) probably null Het
Dlg2 T A 7: 92,087,249 (GRCm39) I881N probably damaging Het
Ece1 C T 4: 137,673,673 (GRCm39) T407M possibly damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Egln1 T C 8: 125,675,153 (GRCm39) D214G probably benign Het
Espn T C 4: 152,220,002 (GRCm39) T47A possibly damaging Het
F5 A G 1: 164,023,289 (GRCm39) I1616V possibly damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Gabrg2 T C 11: 41,867,463 (GRCm39) K52R possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Glod4 A T 11: 76,128,635 (GRCm39) I70N possibly damaging Het
Gsn T A 2: 35,173,930 (GRCm39) V2E probably benign Het
H1f2 A G 13: 23,922,907 (GRCm39) K26E probably benign Het
Hrg C T 16: 22,780,059 (GRCm39) probably benign Het
Kctd19 T C 8: 106,113,898 (GRCm39) T592A probably benign Het
Kdm3b A G 18: 34,941,472 (GRCm39) D521G probably damaging Het
Lrba A G 3: 86,683,410 (GRCm39) H2744R possibly damaging Het
Lsr C T 7: 30,657,770 (GRCm39) A397T probably damaging Het
Methig1 A T 15: 100,251,241 (GRCm39) M51L possibly damaging Het
Mga A G 2: 119,734,204 (GRCm39) I351V probably benign Het
Mlf1 G A 3: 67,307,084 (GRCm39) V250I possibly damaging Het
Mreg A T 1: 72,231,223 (GRCm39) N78K probably damaging Het
Mtor A G 4: 148,574,012 (GRCm39) D1294G probably benign Het
Nfkb1 T C 3: 135,307,282 (GRCm39) I548V probably damaging Het
Nlrp3 T C 11: 59,439,962 (GRCm39) F513S possibly damaging Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Nr3c2 C A 8: 77,636,536 (GRCm39) H546N probably damaging Het
Nr4a2 T A 2: 57,002,211 (GRCm39) M18L probably benign Het
Or2y1f A C 11: 49,184,459 (GRCm39) T104P probably benign Het
Or4c109 G A 2: 88,817,814 (GRCm39) T244I probably benign Het
Pclo A G 5: 14,590,346 (GRCm39) N882S unknown Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Ptger2 G T 14: 45,227,107 (GRCm39) R229L probably damaging Het
Ptpru C A 4: 131,535,810 (GRCm39) G389V probably damaging Het
Ric8a A G 7: 140,441,851 (GRCm39) N249S probably benign Het
Slc26a5 A G 5: 22,036,508 (GRCm39) I266T possibly damaging Het
Smyd1 T C 6: 71,215,660 (GRCm39) N100D probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Stag3 T C 5: 138,296,546 (GRCm39) F468S probably damaging Het
Stk31 C T 6: 49,394,184 (GRCm39) T182I probably damaging Het
Svep1 G T 4: 58,082,677 (GRCm39) N1982K possibly damaging Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Ube4b A G 4: 149,429,029 (GRCm39) I870T probably damaging Het
Vwa8 T A 14: 79,302,436 (GRCm39) L1035Q possibly damaging Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Wnk1 A T 6: 119,940,601 (GRCm39) probably null Het
Zc3h7a T C 16: 10,976,458 (GRCm39) probably benign Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A probably damaging 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
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'- CCTCAGTTTGGCAGAGAACAC -3'
(R):5'- AACTTCTTGCTGGAGGCTGG -3'

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