Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Tcirg1'

265998

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

039944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3946050-3957133 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 3952843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122474 (fasta)

Gene Model

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

AlphaFold

Q9JHF5

Predicted Effect

probably benign
Transcript: ENSMUST00000001801

SMART Domains

Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750

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

Predicted Effect

probably benign
Transcript: ENSMUST00000001801

SMART Domains

Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	830	4.4e-287	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: ENSMUST00000125792

Predicted Effect

probably benign
Transcript: ENSMUST00000126070

SMART Domains

Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126070

SMART Domains

Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159824

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: ENSMUST00000135070

SMART Domains

Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145791

SMART Domains

Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145791

SMART Domains

Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	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
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
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

Posted On

2015-02-05