Incidental Mutation 'R5417:Tcirg1'
ID 501042
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.857) question?
Stock # R5417 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 3946050-3957133 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 3953509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000001801] [ENSMUST00000122885] [ENSMUST00000126070] [ENSMUST00000145791] [ENSMUST00000135070]
AlphaFold Q9JHF5
Predicted Effect probably null
Transcript: ENSMUST00000001801
SMART Domains Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000001801
SMART Domains Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 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: ENSMUST00000125792
Predicted Effect probably null
Transcript: ENSMUST00000126070
SMART Domains Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 829 1.2e-277 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127308
Predicted Effect probably null
Transcript: ENSMUST00000145791
SMART Domains Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135070
SMART Domains Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159824
Predicted Effect probably benign
Transcript: ENSMUST00000132164
SMART Domains Protein: ENSMUSP00000120968
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 1 190 4.5e-48 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A G 15: 76,619,301 (GRCm39) V761A possibly damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cfap65 T C 1: 74,964,259 (GRCm39) E563G probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Col17a1 C A 19: 47,650,829 (GRCm39) G732C probably damaging Het
Cped1 A G 6: 22,233,579 (GRCm39) I812V probably null Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dgkg A T 16: 22,407,081 (GRCm39) M168K possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dolpp1 T C 2: 30,286,249 (GRCm39) L18P probably damaging Het
Eif3e A T 15: 43,128,917 (GRCm39) D234E probably benign Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Fbxw10 G A 11: 62,767,990 (GRCm39) R942Q possibly damaging Het
Flvcr2 T G 12: 85,793,965 (GRCm39) F114V probably damaging Het
Gm14443 A T 2: 175,011,796 (GRCm39) C217S probably damaging Het
Gphb5 A T 12: 75,459,746 (GRCm39) V83E possibly damaging Het
Gpsm1 T C 2: 26,214,045 (GRCm39) probably null Het
Grik4 A G 9: 42,582,544 (GRCm39) F134S probably benign Het
Ibsp G A 5: 104,458,335 (GRCm39) E291K possibly damaging Het
Igfals T G 17: 25,099,290 (GRCm39) L127R probably damaging Het
Igsf9b CGGCCCCGGCCCAG CGGCCCCGGCCCAGGCCCCGGCCCAG 9: 27,245,572 (GRCm39) probably benign Het
Iqcf3 T A 9: 106,431,413 (GRCm39) D63V probably damaging Het
Klc4 A G 17: 46,942,957 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mapk8ip2 C A 15: 89,341,642 (GRCm39) D284E probably benign Het
Muc5b A T 7: 141,411,781 (GRCm39) T1576S unknown Het
Nlrp3 G A 11: 59,439,889 (GRCm39) G489S probably damaging Het
Nr5a1 T A 2: 38,598,098 (GRCm39) Q233L possibly damaging Het
Nusap1 G A 2: 119,477,624 (GRCm39) V345I probably damaging Het
Or10q1 A G 19: 13,727,217 (GRCm39) H249R probably benign Het
Or4k51 A G 2: 111,585,265 (GRCm39) T224A possibly damaging Het
Or51aa2 A T 7: 103,187,970 (GRCm39) V157E possibly damaging Het
Oxr1 A G 15: 41,683,767 (GRCm39) T378A probably benign Het
Pcdhb12 T C 18: 37,569,087 (GRCm39) F78L probably benign Het
Pgm2l1 A T 7: 99,921,583 (GRCm39) I605L probably benign Het
Pik3c2g A G 6: 139,682,669 (GRCm39) I17V probably benign Het
Prss39 A G 1: 34,539,209 (GRCm39) S150G probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scg3 T A 9: 75,576,538 (GRCm39) Y279F probably benign Het
Skic2 C T 17: 35,065,574 (GRCm39) V327I probably damaging Het
Srfbp1 T C 18: 52,621,697 (GRCm39) C253R probably benign Het
Trim37 A G 11: 87,057,505 (GRCm39) Y313C probably damaging Het
Ttll9 A T 2: 152,844,912 (GRCm39) M427L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp5 A G 7: 55,475,409 (GRCm39) R932G 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
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
R6026:Tcirg1 UTSW 19 3,947,487 (GRCm39) missense probably benign
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'- GCTGTCCAGAAAAGACAAACTG -3'
(R):5'- TCTTGCGGGAAGAAGTGCAG -3'

Sequencing Primer
(F):5'- AACTGCCCCGACTCACTTG -3'
(R):5'- CAGCGGGCAGGTCTGAC -3'
Posted On 2017-12-01