Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02061:Atp4a'

185410

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

30411634-30424959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30414454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 159 (Y159C)

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: Y159C

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

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: Y159C

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: ENSMUST00000085702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167761

Predicted Effect

probably damaging
Transcript: ENSMUST00000170371
AA Change: Y159C

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

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: Y159C

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

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,931,193 (GRCm39)	D3E	probably benign	Het
Card10	A	G	15: 78,662,415 (GRCm39)	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,188,002 (GRCm39)	V279A	probably damaging	Het
Cndp1	G	A	18: 84,652,751 (GRCm39)	R136W	probably damaging	Het
Eif2b3	A	G	4: 116,885,608 (GRCm39)	E50G	possibly damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Eva1c	C	T	16: 90,663,163 (GRCm39)	Q67*	probably null	Het
Exoc1	A	G	5: 76,689,967 (GRCm39)	E169G	probably damaging	Het
Fsd2	T	A	7: 81,190,172 (GRCm39)	K537*	probably null	Het
Gbf1	T	G	19: 46,267,697 (GRCm39)	S1236A	possibly damaging	Het
Gpt	C	A	15: 76,583,617 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,486,609 (GRCm39)		probably benign	Het
Hdac6	A	C	X: 7,809,878 (GRCm39)		probably null	Het
Ivns1abp	T	A	1: 151,227,324 (GRCm39)	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,790,494 (GRCm39)		probably null	Het
Kdm2b	A	G	5: 123,021,404 (GRCm39)	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,094,319 (GRCm39)	P76S	probably benign	Het
Nbea	A	G	3: 55,625,308 (GRCm39)	I2261T	possibly damaging	Het
Oasl1	G	A	5: 115,061,651 (GRCm39)	V61M	probably damaging	Het
Or4g7	T	A	2: 111,309,614 (GRCm39)	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,908,046 (GRCm39)	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,340,639 (GRCm39)	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,503,624 (GRCm39)	T66A	probably benign	Het
Prss55	A	G	14: 64,313,192 (GRCm39)	Y231H	possibly damaging	Het
Psmb10	T	C	8: 106,664,343 (GRCm39)	T38A	probably damaging	Het
Rfx5	A	G	3: 94,865,792 (GRCm39)	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,642,610 (GRCm39)	N107S	probably benign	Het
Seh1l	A	G	18: 67,920,328 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,277,660 (GRCm39)		probably null	Het
Sod1	T	A	16: 90,022,126 (GRCm39)	H111Q	probably benign	Het
Thbs2	A	T	17: 14,900,176 (GRCm39)	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526 (GRCm39)	A740V	probably damaging	Het
Tra2a	A	G	6: 49,226,032 (GRCm39)	V136A	possibly damaging	Het
Utp18	T	C	11: 93,772,967 (GRCm39)	D158G	probably benign	Het
Zfp524	A	G	7: 5,020,871 (GRCm39)	E133G	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
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
R0095:Atp4a	UTSW	7	30,420,160 (GRCm39)	missense	probably damaging	0.99
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

2014-05-07