Incidental Mutation 'R6026:Tcirg1'
ID 480081
Institutional Source Beutler Lab
Gene Symbol Tcirg1
Ensembl Gene ENSMUSG00000001750
Gene Name T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
Synonyms OC-116, TIRC7, V-ATPase a3, ATP6a3, Atp6i
MMRRC Submission 044198-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.857) question?
Stock # R6026 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 3946050-3957133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3947487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 624 (H624R)
Ref Sequence ENSEMBL: ENSMUSP00000122474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000025760] [ENSMUST00000072055] [ENSMUST00000122885] [ENSMUST00000126070] [ENSMUST00000145791] [ENSMUST00000135070] [ENSMUST00000128694]
AlphaFold Q9JHF5
Predicted Effect probably benign
Transcript: ENSMUST00000001801
AA Change: H624R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: H624R

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025760
SMART Domains Protein: ENSMUSP00000025760
Gene: ENSMUSG00000024843

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
low complexity region 53 74 N/A INTRINSIC
Pfam:APH 108 373 2.4e-11 PFAM
Pfam:Choline_kinase 135 370 8.2e-82 PFAM
Pfam:EcKinase 211 345 2.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072055
SMART Domains Protein: ENSMUSP00000071933
Gene: ENSMUSG00000024843

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
low complexity region 53 74 N/A INTRINSIC
Pfam:APH 108 358 6.4e-12 PFAM
Pfam:Choline_kinase 135 352 1.6e-84 PFAM
Pfam:EcKinase 190 329 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122885
SMART Domains Protein: ENSMUSP00000114768
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 1 91 2.9e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125859
Predicted Effect probably benign
Transcript: ENSMUST00000126070
AA Change: H624R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: H624R

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 829 1.2e-277 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145791
AA Change: H624R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: H624R

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162688
Predicted Effect probably benign
Transcript: ENSMUST00000135070
SMART Domains Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132164
SMART Domains Protein: ENSMUSP00000120968
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 1 190 4.5e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128694
SMART Domains Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843

DomainStartEndE-ValueType
PDB:4DA5|B 1 150 2e-60 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for mutant alleles exhibit severe osteopetrosis with increased bone density due to failure of secondary bone resorption. Mutants lack teeth and die around 30-40 days of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,581 (GRCm39) D187G probably benign Het
4933421I07Rik A T 7: 42,095,708 (GRCm39) M180K probably benign Het
Aatk T C 11: 119,903,190 (GRCm39) H345R possibly damaging Het
Abcc8 T C 7: 45,816,424 (GRCm39) T239A probably benign Het
Abcf3 A G 16: 20,369,320 (GRCm39) E234G probably damaging Het
Actrt2 T C 4: 154,751,047 (GRCm39) D363G possibly damaging Het
Adam1a A T 5: 121,657,425 (GRCm39) C623S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Barhl2 T A 5: 106,603,474 (GRCm39) K228N probably benign Het
Blvrb A G 7: 27,162,115 (GRCm39) H153R probably damaging Het
Capn9 A G 8: 125,332,601 (GRCm39) D480G probably damaging Het
Cct3 T C 3: 88,219,029 (GRCm39) I182T possibly damaging Het
Clasp2 A G 9: 113,740,646 (GRCm39) N1208D probably benign Het
Col26a1 A G 5: 136,876,354 (GRCm39) C89R probably damaging Het
Cops4 T A 5: 100,690,194 (GRCm39) probably benign Het
Cpox T A 16: 58,491,298 (GRCm39) W170R probably damaging Het
Ddx27 A G 2: 166,875,560 (GRCm39) K656E probably benign Het
Eif4e T C 3: 138,256,661 (GRCm39) I66T probably damaging Het
Ercc3 T C 18: 32,378,974 (GRCm39) probably null Het
Esp38 G A 17: 40,266,032 (GRCm39) C47Y probably damaging Het
Fancd2 T C 6: 113,528,731 (GRCm39) V380A possibly damaging Het
Fbxw7 T A 3: 84,859,948 (GRCm39) probably null Het
Fryl T G 5: 73,257,340 (GRCm39) R736S probably benign Het
Gad2 G A 2: 22,513,748 (GRCm39) V62M probably benign Het
Gigyf2 A G 1: 87,368,454 (GRCm39) T1045A probably damaging Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Gm19410 G A 8: 36,279,580 (GRCm39) S1815N probably benign Het
Gm28051 A T 12: 102,686,444 (GRCm39) L72Q unknown Het
Gm44511 T C 6: 128,797,240 (GRCm39) T83A possibly damaging Het
Grk2 C T 19: 4,340,811 (GRCm39) V246I probably damaging Het
Grm7 C T 6: 111,478,500 (GRCm39) Q62* probably null Het
Gsdmc3 T A 15: 63,738,600 (GRCm39) E154V probably damaging Het
Gstz1 A C 12: 87,206,948 (GRCm39) Q114P probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hhip A T 8: 80,699,069 (GRCm39) C666S probably damaging Het
Hif1a A C 12: 73,979,055 (GRCm39) H193P probably damaging Het
Hyal2 A G 9: 107,449,398 (GRCm39) T385A probably benign Het
Ihh T C 1: 74,985,886 (GRCm39) T200A probably benign Het
Iqgap3 T A 3: 87,997,478 (GRCm39) V218E probably damaging Het
Lct A G 1: 128,227,755 (GRCm39) I1246T probably benign Het
Lmo7 T C 14: 102,118,426 (GRCm39) V217A probably benign Het
Lrp1 C T 10: 127,409,272 (GRCm39) D1616N probably damaging Het
Lrrfip2 A T 9: 111,043,239 (GRCm39) T165S probably damaging Het
Morc2b A G 17: 33,356,957 (GRCm39) Y272H possibly damaging Het
Muc16 A G 9: 18,571,154 (GRCm39) M455T unknown Het
Ncapg2 A T 12: 116,406,641 (GRCm39) D939V possibly damaging Het
Ncbp3 T C 11: 72,958,548 (GRCm39) V236A probably benign Het
Obscn T A 11: 58,957,916 (GRCm39) T3595S probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or3a1 T A 11: 74,225,914 (GRCm39) I48F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pdzrn3 A C 6: 101,339,105 (GRCm39) C269G probably benign Het
Pear1 T A 3: 87,664,220 (GRCm39) N278Y probably damaging Het
Phb1 C T 11: 95,562,245 (GRCm39) R41* probably null Het
Pikfyve T C 1: 65,311,856 (GRCm39) V2031A probably damaging Het
Plxna2 A G 1: 194,482,122 (GRCm39) I1465V probably damaging Het
Ppp6r2 A G 15: 89,167,113 (GRCm39) N776S probably benign Het
Prkce A T 17: 86,800,658 (GRCm39) E358V probably benign Het
Prl5a1 A T 13: 28,335,247 (GRCm39) I219F probably benign Het
Prss3 T C 6: 41,354,488 (GRCm39) probably null Het
Ptprc A T 1: 137,998,987 (GRCm39) M858K probably damaging Het
Retreg3 T C 11: 100,997,226 (GRCm39) T85A probably damaging Het
Rfc2 T A 5: 134,624,185 (GRCm39) C265S probably damaging Het
Smarcd1 G T 15: 99,603,619 (GRCm39) V256L probably damaging Het
Stat5a T C 11: 100,771,142 (GRCm39) F574L probably damaging Het
Tcstv1a C A 13: 120,355,987 (GRCm39) probably benign Het
Tenm2 C T 11: 35,963,556 (GRCm39) probably null Het
Tomm40 A G 7: 19,444,889 (GRCm39) V164A probably benign Het
Txnl4a T C 18: 80,250,482 (GRCm39) V26A probably damaging Het
Ugt2a3 A T 5: 87,484,336 (GRCm39) F229L probably benign Het
Utp20 T C 10: 88,604,541 (GRCm39) T1785A probably benign Het
Vmn1r22 T A 6: 57,877,390 (GRCm39) I196L probably benign Het
Zfp652 T G 11: 95,640,788 (GRCm39) C238G possibly damaging Het
Other mutations in Tcirg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Tcirg1 APN 19 3,949,108 (GRCm39) missense possibly damaging 0.94
IGL01735:Tcirg1 APN 19 3,954,210 (GRCm39) splice site probably benign
IGL03143:Tcirg1 APN 19 3,948,811 (GRCm39) missense probably damaging 1.00
R0732:Tcirg1 UTSW 19 3,947,866 (GRCm39) missense possibly damaging 0.56
R1131:Tcirg1 UTSW 19 3,946,301 (GRCm39) missense probably damaging 1.00
R1223:Tcirg1 UTSW 19 3,948,733 (GRCm39) missense probably benign 0.01
R1548:Tcirg1 UTSW 19 3,946,845 (GRCm39) missense probably benign 0.03
R1867:Tcirg1 UTSW 19 3,948,835 (GRCm39) missense probably damaging 1.00
R1926:Tcirg1 UTSW 19 3,952,843 (GRCm39) intron probably benign
R2262:Tcirg1 UTSW 19 3,953,591 (GRCm39) missense possibly damaging 0.89
R4367:Tcirg1 UTSW 19 3,949,069 (GRCm39) missense probably damaging 1.00
R5327:Tcirg1 UTSW 19 3,952,342 (GRCm39) critical splice donor site probably null
R5417:Tcirg1 UTSW 19 3,953,509 (GRCm39) splice site probably null
R5551:Tcirg1 UTSW 19 3,948,858 (GRCm39) missense probably damaging 1.00
R5930:Tcirg1 UTSW 19 3,952,424 (GRCm39) missense possibly damaging 0.95
R6517:Tcirg1 UTSW 19 3,951,933 (GRCm39) missense probably damaging 1.00
R7039:Tcirg1 UTSW 19 3,946,666 (GRCm39) missense probably damaging 1.00
R7181:Tcirg1 UTSW 19 3,953,576 (GRCm39) missense probably null 0.56
R7422:Tcirg1 UTSW 19 3,949,008 (GRCm39) missense possibly damaging 0.61
R7631:Tcirg1 UTSW 19 3,947,160 (GRCm39) missense probably damaging 1.00
R7768:Tcirg1 UTSW 19 3,952,900 (GRCm39) missense possibly damaging 0.91
R7899:Tcirg1 UTSW 19 3,949,104 (GRCm39) missense probably damaging 1.00
R8110:Tcirg1 UTSW 19 3,949,099 (GRCm39) missense probably damaging 1.00
R8535:Tcirg1 UTSW 19 3,946,324 (GRCm39) missense probably damaging 1.00
R9233:Tcirg1 UTSW 19 3,952,543 (GRCm39) missense probably damaging 1.00
R9292:Tcirg1 UTSW 19 3,947,840 (GRCm39) missense probably damaging 1.00
R9611:Tcirg1 UTSW 19 3,953,400 (GRCm39) missense probably benign 0.09
R9695:Tcirg1 UTSW 19 3,952,360 (GRCm39) missense probably null 0.69
Z1176:Tcirg1 UTSW 19 3,953,425 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGACTTCAGGTTCTCAACAC -3'
(R):5'- TGTTCCCACAGGCACTTTG -3'

Sequencing Primer
(F):5'- CCTGAGACCCAAACTTTAGTCCATTG -3'
(R):5'- ACAGGCACTTTGGCCAG -3'
Posted On 2017-06-26