Mutagenetix > Incidental Mutation

Incidental Mutation 'R6974:Atp6v0b'

542336

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0b

Ensembl Gene

ENSMUSG00000033379

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit B

Synonyms

VMA16, 2310024H13Rik, Atp6f

MMRRC Submission

045084-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R6974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117741523-117744530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117742864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 74 (T74M)

Ref Sequence

ENSEMBL: ENSMUSP00000119988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030265] [ENSMUST00000030266] [ENSMUST00000036380] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000132073] [ENSMUST00000136596] [ENSMUST00000147845] [ENSMUST00000149868] [ENSMUST00000150204] [ENSMUST00000153358] [ENSMUST00000167443] [ENSMUST00000171548] [ENSMUST00000183773]

AlphaFold

Q91V37

Predicted Effect

probably benign
Transcript: ENSMUST00000030265

SMART Domains

Protein: ENSMUSP00000030265
Gene: ENSMUSG00000028540

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	54	375	2.8e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030266

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	228	4.2e-59	PFAM
Pfam:Glyco_transf_7C	232	310	2.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036380
AA Change: T121M

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379
AA Change: T121M

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:ATP-synt_C	50	112	1.2e-15	PFAM
Pfam:ATP-synt_C	136	198	1.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084325

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106421

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132073
AA Change: T74M

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379
AA Change: T74M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	1.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136596

Predicted Effect

probably benign
Transcript: ENSMUST00000147845

Predicted Effect

probably benign
Transcript: ENSMUST00000149868
AA Change: T74M

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379
AA Change: T74M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	3.1e-19	PFAM
transmembrane domain	84	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150204
AA Change: T74M

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379
AA Change: T74M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	8.2e-19	PFAM
Pfam:ATP-synt_C	88	152	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153358

SMART Domains

Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	197	9.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167443

SMART Domains

Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	188	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171548

SMART Domains

Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183773

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,206,221 (GRCm39)	N67K	probably benign	Het
Amotl1	C	A	9: 14,556,216 (GRCm39)	E37*	probably null	Het
Ap4b1	C	A	3: 103,720,601 (GRCm39)	Y90*	probably null	Het
Apc	A	G	18: 34,431,480 (GRCm39)	E277G	possibly damaging	Het
Atl1	T	A	12: 69,972,813 (GRCm39)	H44Q	probably damaging	Het
Auts2	T	C	5: 131,469,437 (GRCm39)	T627A	probably benign	Het
B4galnt4	T	A	7: 140,647,449 (GRCm39)	I372N	possibly damaging	Het
B4galt2	A	G	4: 117,731,148 (GRCm39)	S338P	probably damaging	Het
Cfap43	A	C	19: 47,773,717 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,362,538 (GRCm39)		probably benign	Het
Col7a1	A	C	9: 108,798,494 (GRCm39)	I1741L	possibly damaging	Het
Coprs	A	T	8: 13,935,750 (GRCm39)	S90T	probably benign	Het
Csrnp3	T	C	2: 65,779,408 (GRCm39)	V40A	possibly damaging	Het
Ephx1	C	A	1: 180,827,287 (GRCm39)		probably null	Het
Erich6	C	A	3: 58,526,220 (GRCm39)	R594L	probably benign	Het
F2rl2	A	T	13: 95,837,038 (GRCm39)	N28Y	probably damaging	Het
Fbxo38	A	T	18: 62,639,740 (GRCm39)	N1041K	possibly damaging	Het
Fcgr2b	C	T	1: 170,790,977 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,809,061 (GRCm39)	N1793K	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcnt3	A	G	9: 69,942,169 (GRCm39)	I133T	probably damaging	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Hoxa1	T	A	6: 52,135,021 (GRCm39)	I61F	probably damaging	Het
Impact	C	T	18: 13,115,169 (GRCm39)	L102F	probably damaging	Het
Ist1	A	T	8: 110,404,284 (GRCm39)	I196N	probably damaging	Het
Kcnv2	T	A	19: 27,311,282 (GRCm39)	S550T	probably benign	Het
Krt1c	A	T	15: 101,726,314 (GRCm39)	S75T	unknown	Het
Krtap21-1	A	G	16: 89,200,466 (GRCm39)	S59P	unknown	Het
Lef1	A	T	3: 130,905,223 (GRCm39)	I35F	probably damaging	Het
Lpcat2	A	C	8: 93,599,707 (GRCm39)	N225T	probably damaging	Het
Lztfl1	A	T	9: 123,538,649 (GRCm39)	N142K	probably benign	Het
Mdh1b	G	A	1: 63,760,975 (GRCm39)	H88Y	probably benign	Het
Mettl26	A	G	17: 26,095,658 (GRCm39)	D171G	probably damaging	Het
Mrps24	A	T	11: 5,654,663 (GRCm39)	M97K	probably benign	Het
Ms4a14	A	T	19: 11,279,499 (GRCm39)	C1020S	probably benign	Het
Mterf1a	A	T	5: 3,940,854 (GRCm39)	I338K	probably benign	Het
Odad2	A	T	18: 7,294,479 (GRCm39)	Y45N	probably benign	Het
Or1e22	A	G	11: 73,377,299 (GRCm39)	I117T	probably benign	Het
Or4p20	T	C	2: 88,254,156 (GRCm39)	Y71C	possibly damaging	Het
Or52s1b	T	A	7: 102,822,442 (GRCm39)	H134L	probably damaging	Het
Or7g12	T	A	9: 18,899,689 (GRCm39)	I135N	probably damaging	Het
Paqr3	T	A	5: 97,256,146 (GRCm39)	H76L	probably damaging	Het
Parp1	T	A	1: 180,417,071 (GRCm39)	Y618*	probably null	Het
Pilrb2	C	T	5: 137,870,049 (GRCm39)		probably benign	Het
Pkm	A	G	9: 59,575,853 (GRCm39)	N90D	probably damaging	Het
Pla2g4c	T	G	7: 13,078,459 (GRCm39)		probably null	Het
Plppr4	C	T	3: 117,116,667 (GRCm39)	V339I	probably damaging	Het
Pnkp	T	A	7: 44,510,462 (GRCm39)	D304E	probably damaging	Het
Pnlip	T	C	19: 58,668,067 (GRCm39)		probably null	Het
Polr2a	A	G	11: 69,638,026 (GRCm39)	C148R	probably damaging	Het
Ppp1r10	G	A	17: 36,240,443 (GRCm39)	G578S	probably benign	Het
Ptges2	C	T	2: 32,287,683 (GRCm39)	T137I	possibly damaging	Het
Ptpre	T	C	7: 135,270,877 (GRCm39)	V344A	possibly damaging	Het
Rag1	A	G	2: 101,472,137 (GRCm39)	F1002L	probably damaging	Het
Rcn2	T	A	9: 55,960,298 (GRCm39)	Y188*	probably null	Het
Rest	A	G	5: 77,416,046 (GRCm39)	S87G	probably damaging	Het
Rgsl1	C	T	1: 153,675,568 (GRCm39)	D913N	probably damaging	Het
Scp2	A	G	4: 107,928,475 (GRCm39)	M1T	probably null	Het
Slamf8	T	A	1: 172,415,590 (GRCm39)	N83Y	probably damaging	Het
Slc26a11	T	A	11: 119,248,844 (GRCm39)	F75Y	possibly damaging	Het
Slc26a5	A	G	5: 22,045,570 (GRCm39)	S133P	probably damaging	Het
Sncb	A	T	13: 54,910,487 (GRCm39)	V83E	probably damaging	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Trim38	A	G	13: 23,973,502 (GRCm39)	N277D	probably benign	Het
Vmn1r189	C	T	13: 22,286,628 (GRCm39)	G70S	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,495 (GRCm39)	R684G	probably benign	Het
Wdr59	T	C	8: 112,187,420 (GRCm39)	N792D	possibly damaging	Het
Wnt5a	A	G	14: 28,244,527 (GRCm39)	D238G	possibly damaging	Het
Zbtb42	C	A	12: 112,646,824 (GRCm39)	T333K	probably damaging	Het
Zfp119b	A	G	17: 56,245,564 (GRCm39)	S509P	probably benign	Het
Zfp365	T	A	10: 67,745,594 (GRCm39)	K61N	probably damaging	Het
Zfp553	T	C	7: 126,835,825 (GRCm39)	F460S	probably damaging	Het
Zfp788	C	T	7: 41,299,301 (GRCm39)	Q594*	probably null	Het
Zfp984	T	A	4: 147,845,707 (GRCm39)	M1L	possibly damaging	Het
Zmiz2	T	A	11: 6,347,566 (GRCm39)	Y291*	probably null	Het

Other mutations in Atp6v0b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Atp6v0b	APN	4	117,742,303 (GRCm39)	nonsense	probably null
IGL01556:Atp6v0b	APN	4	117,743,062 (GRCm39)	missense	probably damaging	1.00
IGL01998:Atp6v0b	APN	4	117,743,263 (GRCm39)	critical splice donor site	probably null
IGL02369:Atp6v0b	APN	4	117,742,850 (GRCm39)	missense	possibly damaging	0.95
IGL02953:Atp6v0b	APN	4	117,742,419 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Atp6v0b	UTSW	4	117,742,453 (GRCm39)	missense	possibly damaging	0.88
R0244:Atp6v0b	UTSW	4	117,741,819 (GRCm39)	missense	probably damaging	1.00
R5636:Atp6v0b	UTSW	4	117,743,582 (GRCm39)	unclassified	probably benign
R7581:Atp6v0b	UTSW	4	117,742,483 (GRCm39)	missense	probably benign	0.00
R7851:Atp6v0b	UTSW	4	117,743,062 (GRCm39)	missense	probably damaging	1.00
R7866:Atp6v0b	UTSW	4	117,742,350 (GRCm39)	missense	probably damaging	1.00
X0057:Atp6v0b	UTSW	4	117,743,820 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TAGAAGCAAGTGTGTAAGGCCC -3'
(R):5'- TGAAGCGGTGGCCATCTATG -3'

Sequencing Primer
(F):5'- TAAGGCCCAGGCGTGTATG -3'
(R):5'- GGACGGGTATCCATTGAA -3'

Posted On

2018-11-28