Incidental Mutation 'IGL03143:Tcirg1'
ID410758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcirg1
Ensembl Gene ENSMUSG00000001750
Gene NameT cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
SynonymsAtp6i, V-ATPase a3, ATP6a3, TIRC7, OC-116
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.495) question?
Stock #IGL03143
Quality Score
Status
Chromosome19
Chromosomal Location3896050-3907133 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 3898811 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 458 (T458I)
Ref Sequence ENSEMBL: ENSMUSP00000122474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000025760] [ENSMUST00000072055] [ENSMUST00000122885] [ENSMUST00000126070] [ENSMUST00000128694] [ENSMUST00000135070] [ENSMUST00000145791]
Predicted Effect probably damaging
Transcript: ENSMUST00000001801
AA Change: T458I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: T458I

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: ENSMUST00000125792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125859
Predicted Effect probably damaging
Transcript: ENSMUST00000126070
AA Change: T458I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: T458I

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 benign
Transcript: ENSMUST00000128694
SMART Domains Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843

DomainStartEndE-ValueType
PDB:4DA5|B 1 150 2e-60 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131327
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 noncoding transcript
Transcript: ENSMUST00000134698
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 damaging
Transcript: ENSMUST00000145791
AA Change: T458I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: T458I

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162688
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,909,267 L236R probably damaging Het
Agbl1 C T 7: 76,420,045 Q442* probably null Het
Ahrr G A 13: 74,257,495 Q108* probably null Het
Ankrd23 T C 1: 36,531,645 probably benign Het
Art5 A G 7: 102,097,897 I225T probably damaging Het
Asxl3 T C 18: 22,522,974 V1347A probably benign Het
Birc6 A G 17: 74,598,999 M1326V possibly damaging Het
Bpifb6 A C 2: 153,902,735 N32T probably damaging Het
Brip1 T A 11: 86,061,827 T1043S possibly damaging Het
Cbx5 A T 15: 103,213,105 V35E probably damaging Het
Ccdc175 T A 12: 72,136,058 M396L probably benign Het
Ceacam3 G T 7: 17,158,120 E263* probably null Het
Cyp4a12a A G 4: 115,302,003 T157A probably benign Het
Derl3 T C 10: 75,894,490 V129A possibly damaging Het
Dnajb1 T C 8: 83,608,474 I48T probably damaging Het
Dopey2 G A 16: 93,759,655 E349K probably benign Het
E330009J07Rik A T 6: 40,422,894 probably benign Het
Fkbp10 A T 11: 100,422,754 I285F probably benign Het
Frrs1 A T 3: 116,899,187 T37S probably damaging Het
Gata2 A G 6: 88,204,695 Y377C probably damaging Het
Gm9789 T A 16: 89,157,995 probably benign Het
Itpkb T A 1: 180,333,368 V353D probably benign Het
Kcng4 T C 8: 119,625,770 E467G probably damaging Het
Kdm3a A T 6: 71,596,861 I906N probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lamc1 A T 1: 153,332,274 L89Q probably benign Het
Lef1 G T 3: 131,200,316 E314* probably null Het
Lpin3 T C 2: 160,903,598 probably benign Het
Mkl2 A G 16: 13,400,812 N452D possibly damaging Het
Naaladl1 C T 19: 6,114,866 T628I possibly damaging Het
Nell1 C T 7: 50,279,533 Q259* probably null Het
Neu2 G T 1: 87,596,976 E228* probably null Het
Olfr1051 T C 2: 86,276,236 N84D probably benign Het
Olfr1475 A T 19: 13,479,471 H242Q probably damaging Het
Olfr178 A G 16: 58,889,461 F253S probably damaging Het
Olfr935 T G 9: 38,995,436 probably benign Het
Osbpl6 T A 2: 76,548,372 D124E probably damaging Het
Palm T C 10: 79,816,783 probably benign Het
Parp8 C A 13: 116,910,961 probably benign Het
Pax7 A G 4: 139,829,487 probably benign Het
Pcnx3 G A 19: 5,685,395 R468W probably damaging Het
Pds5b T A 5: 150,779,257 V818D probably damaging Het
Piezo2 C T 18: 63,108,076 V694I probably damaging Het
Plk1 A G 7: 122,161,654 probably benign Het
Polb T C 8: 22,640,351 probably benign Het
Rad54b A G 4: 11,599,755 T320A probably damaging Het
Reg3b G A 6: 78,372,200 W103* probably null Het
Slc17a3 T G 13: 23,855,979 probably null Het
Snrnp200 C T 2: 127,230,042 probably benign Het
Stox2 T A 8: 47,193,804 H207L possibly damaging Het
Tbx15 A C 3: 99,352,198 M462L possibly damaging Het
Tnfrsf25 A G 4: 152,116,927 probably benign Het
Trank1 A G 9: 111,366,087 K1060E probably damaging Het
Ttc16 T C 2: 32,774,445 D3G possibly damaging Het
Vmn1r199 A C 13: 22,383,129 N155H probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Other mutations in Tcirg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Tcirg1 APN 19 3899108 missense possibly damaging 0.94
IGL01735:Tcirg1 APN 19 3904210 splice site probably benign
R0732:Tcirg1 UTSW 19 3897866 missense possibly damaging 0.56
R1131:Tcirg1 UTSW 19 3896301 missense probably damaging 1.00
R1223:Tcirg1 UTSW 19 3898733 missense probably benign 0.01
R1548:Tcirg1 UTSW 19 3896845 missense probably benign 0.03
R1867:Tcirg1 UTSW 19 3898835 missense probably damaging 1.00
R1926:Tcirg1 UTSW 19 3902843 intron probably benign
R2262:Tcirg1 UTSW 19 3903591 missense possibly damaging 0.89
R4367:Tcirg1 UTSW 19 3899069 missense probably damaging 1.00
R5327:Tcirg1 UTSW 19 3902342 critical splice donor site probably null
R5417:Tcirg1 UTSW 19 3903509 splice site probably null
R5551:Tcirg1 UTSW 19 3898858 missense probably damaging 1.00
R5930:Tcirg1 UTSW 19 3902424 missense possibly damaging 0.95
R6026:Tcirg1 UTSW 19 3897487 missense probably benign
R6517:Tcirg1 UTSW 19 3901933 missense probably damaging 1.00
R7039:Tcirg1 UTSW 19 3896666 missense probably damaging 1.00
R7181:Tcirg1 UTSW 19 3903576 missense probably null 0.56
Posted On2016-08-02