Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Atp6v0b'

554615

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0b

Ensembl Gene

ENSMUSG00000033379

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit B

Synonyms

2310024H13Rik, VMA16, Atp6f

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

PIT4362001 (G1)

Quality Score

119.008

Status

Not validated

Chromosome

Chromosomal Location

117884326-117887333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117885256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 147 (S147P)

Ref Sequence

ENSEMBL: ENSMUSP00000047682 (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

possibly damaging
Transcript: ENSMUST00000036380
AA Change: S147P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379
AA Change: S147P

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

SMART Domains

Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379

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

possibly damaging
Transcript: ENSMUST00000149868
AA Change: S100P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379
AA Change: S100P

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

possibly damaging
Transcript: ENSMUST00000150204
AA Change: S100P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379
AA Change: S100P

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: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424 (GRCm38)	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100 (GRCm38)	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680 (GRCm38)	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212 (GRCm38)	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830 (GRCm38)	D182V		Het
Atad5	C	T	11: 80,111,567 (GRCm38)	H1062Y	probably benign	Het
Cblb	T	A	16: 52,139,542 (GRCm38)	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025 (GRCm38)	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458 (GRCm38)	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583 (GRCm38)		probably null	Het
Cmtr2	G	A	8: 110,222,336 (GRCm38)	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672 (GRCm38)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm38)	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461 (GRCm38)	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664 (GRCm38)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797 (GRCm38)	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752 (GRCm38)	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565 (GRCm38)	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040 (GRCm38)	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857 (GRCm38)	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523 (GRCm38)	R7H	probably damaging	Het
Fbp1	T	A	13: 62,867,380 (GRCm38)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688 (GRCm38)	R177*	probably null	Het
Gask1b	C	A	3: 79,886,939 (GRCm38)	S238Y	possibly damaging	Het
Gbp5	T	C	3: 142,500,710 (GRCm38)	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981 (GRCm38)	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799 (GRCm38)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175 (GRCm38)	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299 (GRCm38)	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633 (GRCm38)	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226 (GRCm38)	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713 (GRCm38)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408 (GRCm38)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013 (GRCm38)	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136 (GRCm38)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538 (GRCm38)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540 (GRCm38)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194 (GRCm38)	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518 (GRCm38)	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469 (GRCm38)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768 (GRCm38)	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571 (GRCm38)	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070 (GRCm38)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882 (GRCm38)	Y152F	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013 (GRCm38)	A247T	probably benign	Het
Or5g25	A	C	2: 85,647,724 (GRCm38)	L199R	probably damaging	Het
Or8c20	G	T	9: 38,349,198 (GRCm38)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026 (GRCm38)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585 (GRCm38)		probably null	Het
Pdzrn4	A	T	15: 92,769,881 (GRCm38)	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292 (GRCm38)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,360,317 (GRCm38)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883 (GRCm38)	C69*	probably null	Het
Scara3	T	C	14: 65,936,402 (GRCm38)	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838 (GRCm38)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549 (GRCm38)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293 (GRCm38)	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495 (GRCm38)	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030 (GRCm38)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435 (GRCm38)	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337 (GRCm38)	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053 (GRCm38)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464 (GRCm38)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018 (GRCm38)	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122 (GRCm38)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383 (GRCm38)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929 (GRCm38)	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990 (GRCm38)	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524 (GRCm38)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268 (GRCm38)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815 (GRCm38)	T626A	probably benign	Het

Other mutations in Atp6v0b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Atp6v0b	APN	4	117,885,106 (GRCm38)	nonsense	probably null
IGL01556:Atp6v0b	APN	4	117,885,865 (GRCm38)	missense	probably damaging	1.00
IGL01998:Atp6v0b	APN	4	117,886,066 (GRCm38)	critical splice donor site	probably null
IGL02369:Atp6v0b	APN	4	117,885,653 (GRCm38)	missense	possibly damaging	0.95
IGL02953:Atp6v0b	APN	4	117,885,222 (GRCm38)	missense	probably damaging	1.00
R0244:Atp6v0b	UTSW	4	117,884,622 (GRCm38)	missense	probably damaging	1.00
R5636:Atp6v0b	UTSW	4	117,886,385 (GRCm38)	unclassified	probably benign
R6974:Atp6v0b	UTSW	4	117,885,667 (GRCm38)	missense	probably benign	0.19
R7581:Atp6v0b	UTSW	4	117,885,286 (GRCm38)	missense	probably benign	0.00
R7851:Atp6v0b	UTSW	4	117,885,865 (GRCm38)	missense	probably damaging	1.00
R7866:Atp6v0b	UTSW	4	117,885,153 (GRCm38)	missense	probably damaging	1.00
X0057:Atp6v0b	UTSW	4	117,886,623 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AAAGGGAGGCACTTCTGTTC -3'
(R):5'- ACACTTGCTTCTACCACACG -3'

Sequencing Primer
(F):5'- TTCCTCTCTAGGGGGACTCG -3'
(R):5'- GTACACACCTGGGCCTTAC -3'

Posted On

2019-06-07