Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02953:Atp6v0b'

365016

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp6v0b

Ensembl Gene

ENSMUSG00000033379

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit B

Synonyms

VMA16, 2310024H13Rik, Atp6f

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL02953

Quality Score

Status

Chromosome

Chromosomal Location

117741523-117744530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117742419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 111 (V111E)

Ref Sequence

ENSEMBL: ENSMUSP00000119988 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000036380
AA Change: V158E

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

SMART Domains

Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379
AA Change: V158E

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

noncoding transcript
Transcript: ENSMUST00000124974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128263

Predicted Effect

probably damaging
Transcript: ENSMUST00000150204
AA Change: V111E

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

SMART Domains

Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379
AA Change: V111E

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

noncoding transcript
Transcript: ENSMUST00000133530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152356

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: ENSMUST00000183773

Predicted Effect

probably benign
Transcript: ENSMUST00000136596

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: ENSMUST00000147845

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: ENSMUST00000149868

SMART Domains

Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379

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

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	G	16: 88,570,534 (GRCm39)	S169P	possibly damaging	Het
Adap2	G	A	11: 80,045,126 (GRCm39)	G29R	probably damaging	Het
Adcy2	A	T	13: 68,877,447 (GRCm39)	I431N	probably damaging	Het
Amer3	T	C	1: 34,626,877 (GRCm39)	V372A	probably damaging	Het
Aspm	T	A	1: 139,385,157 (GRCm39)	V267D	probably benign	Het
Cep20	T	C	16: 14,122,339 (GRCm39)	K142E	probably benign	Het
Clmp	T	A	9: 40,685,683 (GRCm39)	L193Q	probably damaging	Het
Dcaf7	T	G	11: 105,942,702 (GRCm39)	Y216*	probably null	Het
Dcbld2	T	A	16: 58,272,100 (GRCm39)	D385E	probably benign	Het
Des	T	A	1: 75,340,288 (GRCm39)	D398E	possibly damaging	Het
Fancm	C	T	12: 65,168,740 (GRCm39)	T1701I	probably benign	Het
Fat1	C	A	8: 45,477,351 (GRCm39)	D2132E	probably damaging	Het
Fkbp14	T	C	6: 54,556,667 (GRCm39)	K161R	probably damaging	Het
Fuca2	C	T	10: 13,383,173 (GRCm39)		probably benign	Het
Habp2	T	A	19: 56,302,664 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Herc3	C	T	6: 58,834,718 (GRCm39)	Q242*	probably null	Het
Igkv4-81	T	C	6: 68,967,981 (GRCm39)	K40R	probably benign	Het
Irf5	C	A	6: 29,536,671 (GRCm39)	H461N	possibly damaging	Het
Lypd11	C	T	7: 24,422,991 (GRCm39)	C109Y	probably damaging	Het
Nav2	G	A	7: 49,198,171 (GRCm39)	V1267M	probably damaging	Het
Nlk	A	G	11: 78,517,527 (GRCm39)	V155A	probably benign	Het
Nup214	C	T	2: 31,878,241 (GRCm39)	H303Y	possibly damaging	Het
Pld1	A	C	3: 28,166,396 (GRCm39)	M812L	probably benign	Het
Rab11fip3	C	A	17: 26,286,653 (GRCm39)	R500L	possibly damaging	Het
Secisbp2l	C	T	2: 125,602,194 (GRCm39)	E389K	probably benign	Het
Serpina3a	C	T	12: 104,082,748 (GRCm39)	R174C	probably benign	Het
Spef2	T	C	15: 9,713,329 (GRCm39)	R405G	possibly damaging	Het
Srpx	A	T	X: 9,983,706 (GRCm39)		probably benign	Het
St18	T	A	1: 6,914,337 (GRCm39)		probably benign	Het
Tcerg1	C	T	18: 42,681,535 (GRCm39)	P561S	probably damaging	Het
Topbp1	T	A	9: 103,205,634 (GRCm39)	N757K	probably benign	Het
Trrap	G	T	5: 144,752,774 (GRCm39)	L1782F	probably damaging	Het
Tut1	G	T	19: 8,940,056 (GRCm39)	V347L	probably damaging	Het
Txnip	T	A	3: 96,465,682 (GRCm39)	V44D	probably damaging	Het
Usp8	C	T	2: 126,579,857 (GRCm39)	T369I	probably benign	Het
Zzef1	A	G	11: 72,746,224 (GRCm39)	N842S	probably benign	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
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
R6974:Atp6v0b	UTSW	4	117,742,864 (GRCm39)	missense	probably benign	0.19
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

Posted On

2015-12-18