Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Tcirg1'

630842

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

067539-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

R8110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3946050-3957133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3949099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 397 (F397V)

Ref Sequence

ENSEMBL: ENSMUSP00000001801 (fasta)

Gene Model

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

AlphaFold

Q9JHF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001801
AA Change: F397V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: F397V

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 damaging
Transcript: ENSMUST00000122885
AA Change: F52V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114768
Gene: ENSMUSG00000001750
AA Change: F52V

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	1	91	2.9e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000126070
AA Change: F397V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: F397V

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

SMART Domains

Protein: ENSMUSP00000120968
Gene: ENSMUSG00000001750
AA Change: H184Q

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 damaging
Transcript: ENSMUST00000145791
AA Change: F397V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: F397V

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

Meta Mutation Damage Score

0.9631

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd45	T	C	1: 160,978,889 (GRCm39)		probably null	Het
Appl1	C	A	14: 26,649,751 (GRCm39)	G592*	probably null	Het
Arfgef2	T	A	2: 166,720,464 (GRCm39)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,169,683 (GRCm39)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,771,835 (GRCm39)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,407,334 (GRCm39)	L61P	probably benign	Het
Cfap69	T	A	5: 5,632,515 (GRCm39)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,087,303 (GRCm39)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,353,312 (GRCm39)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,703,550 (GRCm39)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,491,095 (GRCm39)	M461T	probably benign	Het
Fryl	A	G	5: 73,290,620 (GRCm39)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,789,017 (GRCm39)	I346T	probably benign	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,359,475 (GRCm39)	S150T	probably benign	Het
Galnt9	G	T	5: 110,763,339 (GRCm39)	W448L	probably damaging	Het
Gcnt2	G	T	13: 41,071,198 (GRCm39)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,471,012 (GRCm39)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,266 (GRCm39)	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,809,445 (GRCm39)	E217V	possibly damaging	Het
Itih2	A	G	2: 10,101,948 (GRCm39)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,568,540 (GRCm39)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,588,577 (GRCm39)	R28C	probably damaging	Het
Lama2	T	A	10: 26,866,866 (GRCm39)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,279 (GRCm39)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,236,561 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,336,797 (GRCm39)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,850,676 (GRCm39)	C879*	probably null	Het
Map3k1	A	G	13: 111,891,847 (GRCm39)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,537,709 (GRCm39)	H84N	probably benign	Het
Mia2	A	G	12: 59,155,873 (GRCm39)		probably null	Het
Mlip	G	T	9: 77,146,861 (GRCm39)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,702,113 (GRCm39)	Y466F	probably benign	Het
Nav2	T	A	7: 49,201,698 (GRCm39)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm39)	V560A	probably benign	Het
Ncln	A	T	10: 81,328,987 (GRCm39)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,509,765 (GRCm39)	D18E	probably benign	Het
Or10aa3	G	A	1: 173,878,091 (GRCm39)	A51T	probably benign	Het
Or12d2	A	G	17: 37,624,604 (GRCm39)	F224L	probably benign	Het
Or1ak2	T	C	2: 36,827,721 (GRCm39)	C197R	possibly damaging	Het
Or5w11	T	C	2: 87,458,951 (GRCm39)	I48T	possibly damaging	Het
Otop3	A	T	11: 115,230,221 (GRCm39)	M33L	probably benign	Het
Pate7	T	C	9: 35,689,329 (GRCm39)	*84W	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,422 (GRCm39)	I387T	possibly damaging	Het
Prb1c	C	T	6: 132,338,531 (GRCm39)	G229D	unknown	Het
Prdm9	T	A	17: 15,774,960 (GRCm39)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Prune2	G	A	19: 17,098,083 (GRCm39)	G1196S	probably benign	Het
Psd3	T	A	8: 68,573,708 (GRCm39)	S158C	probably damaging	Het
Rps18	A	G	17: 34,174,110 (GRCm39)	V15A	probably benign	Het
Sanbr	G	T	11: 23,526,764 (GRCm39)	T696N	probably benign	Het
Sharpin	C	A	15: 76,231,965 (GRCm39)	R271L	possibly damaging	Het
Smad5	C	A	13: 56,871,701 (GRCm39)	Q99K	probably damaging	Het
Sox5	T	C	6: 144,062,200 (GRCm39)	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,256,492 (GRCm39)	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,636,821 (GRCm39)	Y422F	probably damaging	Het
Tex36	G	A	7: 133,197,012 (GRCm39)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,705,760 (GRCm39)	A26S	unknown	Het
Usp50	T	A	2: 126,622,250 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,398,709 (GRCm39)	F757I	probably benign	Het
Zbbx	T	C	3: 75,062,749 (GRCm39)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,392,828 (GRCm39)	M168K	probably benign	Het
Zfp568	G	T	7: 29,722,551 (GRCm39)	G499W	probably damaging	Het
Zfp7	C	G	15: 76,775,131 (GRCm39)	P391R	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
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
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'- AGAGGCTGTTCCACTCTTGTG -3'
(R):5'- AACCTATGTCCACAGCCTGG -3'

Sequencing Primer
(F):5'- GTTCCACTCTTGTGCCCTATC -3'
(R):5'- GGCACTGAGATCTCCATTTTACAAG -3'

Posted On

2020-06-30