Mutagenetix > Incidental Mutation

Incidental Mutation 'R1131:Tcirg1'

94664

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

039204-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R1131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3946050-3957133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3946301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 799 (S799P)

Ref Sequence

ENSEMBL: ENSMUSP00000122474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000025760] [ENSMUST00000072055] [ENSMUST00000122885] [ENSMUST00000126070] [ENSMUST00000145791] [ENSMUST00000128694] [ENSMUST00000135070]

AlphaFold

Q9JHF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001801
AA Change: S799P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: S799P

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	830	4.4e-287	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025760

SMART Domains

Protein: ENSMUSP00000025760
Gene: ENSMUSG00000024843

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000126070
AA Change: S799P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: S799P

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	829	1.2e-277	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000145791
AA Change: S799P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: S799P

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	830	4.4e-287	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162688

Predicted Effect

probably benign
Transcript: ENSMUST00000132164

SMART Domains

Protein: ENSMUSP00000120968
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	1	190	4.5e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128694

SMART Domains

Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843

Domain	Start	End	E-Value	Type
PDB:4DA5\|B	1	150	2e-60	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000135070

SMART Domains

Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	G	T	3: 146,356,837 (GRCm39)	H24N	probably damaging	Het
Ano7	T	C	1: 93,329,498 (GRCm39)	F723L	probably benign	Het
Clec9a	T	G	6: 129,387,278 (GRCm39)	C44W	probably damaging	Het
Commd7	T	A	2: 153,464,047 (GRCm39)	Q44L	probably benign	Het
Ddias	A	T	7: 92,509,094 (GRCm39)	S274T	possibly damaging	Het
Fnip1	A	T	11: 54,384,129 (GRCm39)	E342V	possibly damaging	Het
Gata4	A	G	14: 63,442,189 (GRCm39)	F210S	possibly damaging	Het
Ggt6	A	G	11: 72,326,506 (GRCm39)	E21G	possibly damaging	Het
Gzf1	A	G	2: 148,532,787 (GRCm39)	N647S	probably benign	Het
Hnrnpk	T	C	13: 58,541,979 (GRCm39)		probably null	Het
Lgr6	G	A	1: 134,915,042 (GRCm39)	R569W	probably damaging	Het
Mug1	T	A	6: 121,838,144 (GRCm39)	I458N	probably benign	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Or51a25	C	A	7: 102,372,887 (GRCm39)	R270L	probably damaging	Het
Spta1	T	A	1: 174,013,213 (GRCm39)	S375T	probably damaging	Het
Tanc2	G	A	11: 105,725,828 (GRCm39)	E331K	probably damaging	Het
Tnrc18	T	A	5: 142,772,963 (GRCm39)	D439V	unknown	Het
Tnrc6b	A	T	15: 80,778,654 (GRCm39)	Q1209L	possibly damaging	Het
Trim24	T	A	6: 37,934,717 (GRCm39)	C811S	probably damaging	Het
Ttc7b	A	T	12: 100,348,378 (GRCm39)		probably null	Het
Vmn1r42	A	T	6: 89,822,551 (GRCm39)	F6Y	possibly damaging	Het

Other mutations in Tcirg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGTATCCCAGCAGCATCTAAAGGC -3'
(R):5'- GTGTGACAGGCATTCACAAATTCCC -3'

Sequencing Primer
(F):5'- ACTCTGCTGAAGAATGGTCC -3'
(R):5'- TTGTGTGCAGAGCTGTCTGA -3'

Posted On

2014-01-05