Mutagenetix > Incidental Mutation

Incidental Mutation 'R0095:Atp4a'

17030

Institutional Source

Beutler Lab

Gene Symbol

Atp4a

Ensembl Gene

ENSMUSG00000005553

Gene Name

ATPase, H+/K+ exchanging, gastric, alpha polypeptide

Synonyms

H+K+-transporting alpha 1, H+/K+-ATPase alpha

MMRRC Submission

038381-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0095 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

30411634-30424959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30420160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 769 (I769N)

Ref Sequence

ENSEMBL: ENSMUSP00000131964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000170371] [ENSMUST00000171014]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000005692
AA Change: I778N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: I778N

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	5.4e-23	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	144	375	1.1e-57	PFAM
Pfam:Hydrolase	380	739	5.3e-16	PFAM
Pfam:HAD	383	736	1.9e-18	PFAM
Pfam:Cation_ATPase	436	531	1.6e-24	PFAM
Pfam:Cation_ATPase_C	809	1019	4.8e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167761

Predicted Effect

probably damaging
Transcript: ENSMUST00000170371
AA Change: I769N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: I769N

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	4.9e-28	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	145	376	1e-62	PFAM
Pfam:Hydrolase	380	730	9.3e-25	PFAM
Pfam:HAD	383	727	2.1e-15	PFAM
Pfam:Hydrolase_like2	436	531	4e-25	PFAM
Pfam:Cation_ATPase_C	800	1010	1.5e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171014

Meta Mutation Damage Score

0.9675

Coding Region Coverage

1x: 88.6%
3x: 85.1%
10x: 74.3%
20x: 56.3%

Validation Efficiency

88% (50/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in achlorhydria, hypergastrinemia, and abnormalities of the parietal cells. Mice homozygous for an ENU-induced allele exhibit iron-deficiency anemia. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	T	C	1: 9,630,402 (GRCm39)	I317T	possibly damaging	Het
Aldh3a2	C	T	11: 61,141,774 (GRCm39)	G21D	probably damaging	Het
Alms1	C	A	6: 85,597,235 (GRCm39)	T1156N	possibly damaging	Het
Anxa8	G	A	14: 33,808,028 (GRCm39)	A6T	probably benign	Het
Arhgef4	C	T	1: 34,771,451 (GRCm39)	Q86*	probably null	Het
Cacnb2	G	T	2: 14,963,586 (GRCm39)	V61F	probably damaging	Het
Clcf1	T	G	19: 4,265,842 (GRCm39)		probably benign	Het
Cmah	G	T	13: 24,620,668 (GRCm39)	A301S	probably benign	Het
Col6a4	A	G	9: 105,952,555 (GRCm39)	W448R	probably benign	Het
Csmd1	A	T	8: 16,283,065 (GRCm39)	D630E	probably damaging	Het
Dock10	A	T	1: 80,501,788 (GRCm39)	Y1434N	probably benign	Het
Etl4	A	G	2: 20,748,679 (GRCm39)	D137G	probably damaging	Het
Fer	A	T	17: 64,248,321 (GRCm39)	E361V	possibly damaging	Het
Foxp2	C	A	6: 15,196,976 (GRCm39)	A6E	probably damaging	Het
Gpr3	T	A	4: 132,938,597 (GRCm39)	D25V	probably benign	Het
Gstm7	A	T	3: 107,837,879 (GRCm39)		probably benign	Het
Gys1	T	C	7: 45,094,073 (GRCm39)	V332A	possibly damaging	Het
Igsf10	A	T	3: 59,238,617 (GRCm39)	Y521*	probably null	Het
Itk	T	C	11: 46,233,279 (GRCm39)	D266G	probably damaging	Het
Kdm1a	C	T	4: 136,278,205 (GRCm39)	R839H	probably benign	Het
Lypla1	T	C	1: 4,900,550 (GRCm39)		probably benign	Het
Mmp1a	G	A	9: 7,465,621 (GRCm39)	G186D	possibly damaging	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Necab1	T	A	4: 14,960,027 (GRCm39)	N307Y	possibly damaging	Het
Or5p81	A	C	7: 108,267,252 (GRCm39)	I210L	probably benign	Het
Plekha5	T	C	6: 140,474,323 (GRCm39)	F84L	probably damaging	Het
Plxnb2	A	G	15: 89,049,534 (GRCm39)	S562P	probably benign	Het
Rfx8	C	T	1: 39,724,696 (GRCm39)	V222M	possibly damaging	Het
Rpap3	A	G	15: 97,578,417 (GRCm39)		probably benign	Het
Rpl6	T	G	5: 121,343,902 (GRCm39)	V115G	possibly damaging	Het
Sec16a	A	T	2: 26,315,772 (GRCm39)		probably null	Het
Sema3d	T	C	5: 12,613,314 (GRCm39)	Y464H	probably damaging	Het
Sgo2a	T	A	1: 58,054,714 (GRCm39)	N299K	probably benign	Het
Tecrl	T	C	5: 83,442,417 (GRCm39)		probably benign	Het
Thsd7a	T	C	6: 12,320,969 (GRCm39)	T1569A	probably damaging	Het
U2surp	T	C	9: 95,382,737 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,979,291 (GRCm39)	D567G	probably damaging	Het
Zfp532	A	G	18: 65,757,855 (GRCm39)	Y596C	probably damaging	Het

Other mutations in Atp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Atp4a	APN	7	30,412,629 (GRCm39)	missense	possibly damaging	0.95
IGL01327:Atp4a	APN	7	30,412,675 (GRCm39)	missense	possibly damaging	0.96
IGL01510:Atp4a	APN	7	30,420,216 (GRCm39)	missense	probably benign	0.02
IGL01763:Atp4a	APN	7	30,414,943 (GRCm39)	missense	probably benign	0.20
IGL02061:Atp4a	APN	7	30,414,454 (GRCm39)	missense	probably damaging	1.00
IGL02435:Atp4a	APN	7	30,416,482 (GRCm39)	missense	probably benign
IGL02903:Atp4a	APN	7	30,415,344 (GRCm39)	missense	probably benign	0.00
IGL03181:Atp4a	APN	7	30,424,129 (GRCm39)	missense	probably benign	0.02
IGL03350:Atp4a	APN	7	30,420,292 (GRCm39)	missense	probably damaging	1.00
atypical	UTSW	7	30,414,781 (GRCm39)	missense	possibly damaging	0.84
sublytic	UTSW	7	30,415,225 (GRCm39)	missense	probably benign	0.32
IGL03097:Atp4a	UTSW	7	30,422,462 (GRCm39)	missense	probably benign	0.14
R0121:Atp4a	UTSW	7	30,419,526 (GRCm39)	missense	probably benign	0.00
R0140:Atp4a	UTSW	7	30,419,526 (GRCm39)	missense	probably benign	0.00
R0241:Atp4a	UTSW	7	30,416,560 (GRCm39)	missense	probably benign	0.00
R0437:Atp4a	UTSW	7	30,419,526 (GRCm39)	missense	probably benign	0.00
R0624:Atp4a	UTSW	7	30,418,424 (GRCm39)	missense	probably benign
R1164:Atp4a	UTSW	7	30,417,117 (GRCm39)	missense	probably benign	0.00
R2105:Atp4a	UTSW	7	30,419,793 (GRCm39)	critical splice donor site	probably null
R2272:Atp4a	UTSW	7	30,414,925 (GRCm39)	nonsense	probably null
R2327:Atp4a	UTSW	7	30,419,666 (GRCm39)	missense	probably benign	0.16
R2881:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R2990:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R2992:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R2993:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3123:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3125:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3441:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3442:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3686:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3687:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3845:Atp4a	UTSW	7	30,416,540 (GRCm39)	missense	probably null	0.99
R4027:Atp4a	UTSW	7	30,424,377 (GRCm39)	splice site	probably null
R4072:Atp4a	UTSW	7	30,414,757 (GRCm39)	missense	probably benign	0.09
R4433:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4454:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4457:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4458:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4510:Atp4a	UTSW	7	30,423,678 (GRCm39)	nonsense	probably null
R4511:Atp4a	UTSW	7	30,423,678 (GRCm39)	nonsense	probably null
R4576:Atp4a	UTSW	7	30,417,147 (GRCm39)	missense	probably benign	0.25
R4656:Atp4a	UTSW	7	30,419,373 (GRCm39)	intron	probably benign
R4661:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4662:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4852:Atp4a	UTSW	7	30,423,693 (GRCm39)	missense	probably benign	0.10
R4892:Atp4a	UTSW	7	30,411,899 (GRCm39)	missense	probably benign	0.07
R4907:Atp4a	UTSW	7	30,418,517 (GRCm39)	missense	possibly damaging	0.66
R5024:Atp4a	UTSW	7	30,415,289 (GRCm39)	missense	possibly damaging	0.82
R5254:Atp4a	UTSW	7	30,414,955 (GRCm39)	missense	probably damaging	1.00
R5318:Atp4a	UTSW	7	30,414,754 (GRCm39)	missense	probably damaging	1.00
R5340:Atp4a	UTSW	7	30,420,231 (GRCm39)	missense	probably benign
R5484:Atp4a	UTSW	7	30,420,097 (GRCm39)	unclassified	probably benign
R5729:Atp4a	UTSW	7	30,411,851 (GRCm39)	missense	possibly damaging	0.48
R5762:Atp4a	UTSW	7	30,418,521 (GRCm39)	missense	probably damaging	0.99
R5797:Atp4a	UTSW	7	30,412,074 (GRCm39)	missense	probably damaging	1.00
R6030:Atp4a	UTSW	7	30,421,941 (GRCm39)	missense	probably damaging	0.99
R6030:Atp4a	UTSW	7	30,421,941 (GRCm39)	missense	probably damaging	0.99
R6077:Atp4a	UTSW	7	30,415,344 (GRCm39)	missense	probably benign	0.00
R6243:Atp4a	UTSW	7	30,415,382 (GRCm39)	missense	possibly damaging	0.68
R6346:Atp4a	UTSW	7	30,414,781 (GRCm39)	missense	possibly damaging	0.84
R6459:Atp4a	UTSW	7	30,411,887 (GRCm39)	missense	probably benign	0.00
R6515:Atp4a	UTSW	7	30,411,903 (GRCm39)	missense	possibly damaging	0.78
R6773:Atp4a	UTSW	7	30,414,802 (GRCm39)	missense	probably damaging	0.98
R6854:Atp4a	UTSW	7	30,414,433 (GRCm39)	missense	probably benign	0.29
R7215:Atp4a	UTSW	7	30,416,785 (GRCm39)	missense	possibly damaging	0.61
R7271:Atp4a	UTSW	7	30,421,944 (GRCm39)	missense	probably benign	0.16
R7340:Atp4a	UTSW	7	30,416,155 (GRCm39)	missense	possibly damaging	0.94
R7457:Atp4a	UTSW	7	30,420,192 (GRCm39)	missense	probably benign	0.08
R7593:Atp4a	UTSW	7	30,424,105 (GRCm39)	missense	probably benign	0.08
R7712:Atp4a	UTSW	7	30,414,978 (GRCm39)	missense	probably damaging	0.96
R7762:Atp4a	UTSW	7	30,419,461 (GRCm39)	missense	probably damaging	0.96
R8714:Atp4a	UTSW	7	30,420,013 (GRCm39)	missense	probably damaging	0.99
R9324:Atp4a	UTSW	7	30,415,207 (GRCm39)	missense	probably benign	0.02
Z1177:Atp4a	UTSW	7	30,417,265 (GRCm39)	missense	possibly damaging	0.47
Z1186:Atp4a	UTSW	7	30,416,782 (GRCm39)	missense	probably benign

Posted On

2013-01-20