Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02903:Atp4a'

363689

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: 0.098) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

30411634-30424959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30415344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 321 (M321I)

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 benign
Transcript: ENSMUST00000005692
AA Change: M321I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: M321I

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: ENSMUST00000167761

Predicted Effect

probably benign
Transcript: ENSMUST00000170371
AA Change: M321I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: M321I

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	G	6: 116,397,296 (GRCm39)	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004 (GRCm39)	E301K	probably damaging	Het
Astn1	A	G	1: 158,516,120 (GRCm39)	S1237G	probably damaging	Het
Atf6	G	A	1: 170,627,283 (GRCm39)	P394S	probably benign	Het
C4bp	G	A	1: 130,583,722 (GRCm39)	T82I	probably damaging	Het
Cask	A	T	X: 13,418,686 (GRCm39)		probably benign	Het
Cenpf	A	T	1: 189,379,073 (GRCm39)	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,542,828 (GRCm39)	F103L	probably benign	Het
Chrnb3	A	T	8: 27,876,834 (GRCm39)	T83S	probably damaging	Het
Cmtr2	A	G	8: 110,949,510 (GRCm39)	T607A	probably benign	Het
Cplane1	G	T	15: 8,299,262 (GRCm39)	R3150M	unknown	Het
Cplane1	G	T	15: 8,299,263 (GRCm39)	R3150S	unknown	Het
Cts7	A	T	13: 61,504,440 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,307 (GRCm39)	Y514N	possibly damaging	Het
Dmrtc1b	T	A	X: 101,757,173 (GRCm39)	L206Q	probably benign	Het
Dus3l	C	T	17: 57,075,363 (GRCm39)	L397F	probably damaging	Het
Gm6356	C	T	14: 6,973,735 (GRCm38)	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,235,970 (GRCm39)		probably null	Het
Jkampl	A	G	6: 73,446,103 (GRCm39)	Y149H	probably damaging	Het
Kcmf1	A	T	6: 72,835,866 (GRCm39)	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,648,480 (GRCm39)	T75S	possibly damaging	Het
Lemd2	A	G	17: 27,412,184 (GRCm39)		probably benign	Het
Magee1	G	T	X: 104,166,945 (GRCm39)	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,307,092 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	A	10: 39,823,639 (GRCm39)	E207V	possibly damaging	Het
Or2ag15	A	G	7: 106,340,917 (GRCm39)	S75P	probably damaging	Het
Or7a38	A	G	10: 78,753,250 (GRCm39)	D192G	probably damaging	Het
Pappa	T	C	4: 65,180,217 (GRCm39)	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,953,870 (GRCm39)	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,883,387 (GRCm39)	L45Q	probably benign	Het
Pramel23	A	T	4: 143,425,736 (GRCm39)	M69K	probably benign	Het
Ptprq	T	C	10: 107,502,447 (GRCm39)	T824A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,861 (GRCm39)	T574A	probably benign	Het
Rsbn1	T	C	3: 103,835,885 (GRCm39)	S308P	probably damaging	Het
Shisal2b	T	A	13: 105,000,118 (GRCm39)	Y35F	probably benign	Het
Smr2	A	T	5: 88,256,489 (GRCm39)	I56F	probably benign	Het
Wdfy4	C	T	14: 32,831,607 (GRCm39)	R873H	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
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

2015-12-18