Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Atp4a'

74332

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

30712209-30725534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30713250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 127 (I127N)

Ref Sequence

ENSEMBL: ENSMUSP00000131964 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005692
AA Change: I127N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: I127N

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

possibly damaging
Transcript: ENSMUST00000170371
AA Change: I127N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: I127N

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,945,064	V497E	probably damaging	Het
4930563D23Rik	T	C	16: 92,320,773	Y209C	probably benign	Het
Adcy7	T	G	8: 88,318,790		probably benign	Het
Aldh1a2	T	A	9: 71,285,966	F486I	possibly damaging	Het
Alox12	T	A	11: 70,254,549	H66L	probably benign	Het
Apoh	T	G	11: 108,397,361	Y102D	probably damaging	Het
Arl9	T	C	5: 77,006,554	V43A	possibly damaging	Het
Atf6	A	G	1: 170,788,606		probably null	Het
AY358078	T	A	14: 51,805,709		probably benign	Het
Baat	T	G	4: 49,490,338	K249Q	probably damaging	Het
Brat1	C	T	5: 140,718,208	Q739*	probably null	Het
C8g	A	G	2: 25,499,077	F165L	probably damaging	Het
Cel	T	G	2: 28,557,955	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,710,979	T803K	unknown	Het
Cpxm1	A	G	2: 130,396,357	L95P	probably benign	Het
Ctsr	A	G	13: 61,162,675		probably benign	Het
Cyth1	A	G	11: 118,193,613		probably null	Het
Dync1h1	A	T	12: 110,616,692		probably benign	Het
Ezh1	C	T	11: 101,203,436	C407Y	probably damaging	Het
Gm3696	A	T	14: 7,090,701	W38R	probably benign	Het
Gm9611	T	C	14: 42,294,665	T39A	possibly damaging	Het
Gnpat	T	A	8: 124,878,633	L287H	probably damaging	Het
Golm1	G	T	13: 59,645,144	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,931,774	M899V	probably benign	Het
Hsf3	T	A	X: 96,314,972	M272L	probably benign	Het
Kif19a	C	T	11: 114,781,799		probably benign	Het
Lcn2	T	G	2: 32,386,018	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,812,265	S180R	probably damaging	Het
Ly6h	A	G	15: 75,565,099		probably benign	Het
Macf1	T	C	4: 123,509,912	N705D	probably benign	Het
Mst1r	C	T	9: 107,907,844	P234S	probably benign	Het
Msto1	T	A	3: 88,910,632		probably null	Het
Myo5a	T	A	9: 75,187,538		probably benign	Het
Nipa1	T	C	7: 55,979,661	I235V	probably benign	Het
Nlgn3	T	C	X: 101,318,622	V399A	probably benign	Het
Olfr1367	A	G	13: 21,347,207	N93S	probably benign	Het
Olfr412	T	A	11: 74,364,912	M81K	possibly damaging	Het
Pih1d1	T	C	7: 45,159,975	S289P	probably benign	Het
Ppl	T	C	16: 5,087,644	N1596D	probably benign	Het
Psmb6	T	A	11: 70,526,586	S114R	possibly damaging	Het
Pum1	C	A	4: 130,730,543	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,355,251	I75V	probably benign	Het
Slc24a3	T	A	2: 145,602,558	I284N	probably benign	Het
Slc44a3	C	T	3: 121,527,193	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,629,405	D736A	probably benign	Het
Stra6	A	G	9: 58,152,571	D605G	probably benign	Het
Tas2r126	T	A	6: 42,434,750	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,653,112	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,720,702	G14R	probably benign	Het
Ticrr	C	T	7: 79,694,461	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,348,479	N518K	probably benign	Het
Trpm4	C	A	7: 45,315,073	W533C	probably damaging	Het
Tsen54	T	C	11: 115,821,712	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,327,634	T219M	probably damaging	Het
Usp19	T	C	9: 108,498,961	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,437,696	Y43F	probably benign	Het
Vsig1	T	A	X: 140,937,680	V283E	possibly damaging	Het

Other mutations in Atp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Atp4a	APN	7	30713204	missense	possibly damaging	0.95
IGL01510:Atp4a	APN	7	30720791	missense	probably benign	0.02
IGL01763:Atp4a	APN	7	30715518	missense	probably benign	0.20
IGL02061:Atp4a	APN	7	30715029	missense	probably damaging	1.00
IGL02435:Atp4a	APN	7	30717057	missense	probably benign
IGL02903:Atp4a	APN	7	30715919	missense	probably benign	0.00
IGL03181:Atp4a	APN	7	30724704	missense	probably benign	0.02
IGL03350:Atp4a	APN	7	30720867	missense	probably damaging	1.00
atypical	UTSW	7	30715356	missense	possibly damaging	0.84
sublytic	UTSW	7	30715800	missense	probably benign	0.32
IGL03097:Atp4a	UTSW	7	30723037	missense	probably benign	0.14
R0095:Atp4a	UTSW	7	30720735	missense	probably damaging	0.99
R0121:Atp4a	UTSW	7	30720101	missense	probably benign	0.00
R0140:Atp4a	UTSW	7	30720101	missense	probably benign	0.00
R0241:Atp4a	UTSW	7	30717135	missense	probably benign	0.00
R0437:Atp4a	UTSW	7	30720101	missense	probably benign	0.00
R0624:Atp4a	UTSW	7	30718999	missense	probably benign
R1164:Atp4a	UTSW	7	30717692	missense	probably benign	0.00
R2105:Atp4a	UTSW	7	30720368	critical splice donor site	probably null
R2272:Atp4a	UTSW	7	30715500	nonsense	probably null
R2327:Atp4a	UTSW	7	30720241	missense	probably benign	0.16
R2881:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R2990:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R2992:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R2993:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3123:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3125:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3441:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3442:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3686:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3687:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3845:Atp4a	UTSW	7	30717115	missense	probably null	0.99
R4027:Atp4a	UTSW	7	30724952	splice site	probably null
R4072:Atp4a	UTSW	7	30715332	missense	probably benign	0.09
R4433:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4454:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4457:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4458:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4510:Atp4a	UTSW	7	30724253	nonsense	probably null
R4511:Atp4a	UTSW	7	30724253	nonsense	probably null
R4576:Atp4a	UTSW	7	30717722	missense	probably benign	0.25
R4656:Atp4a	UTSW	7	30719948	intron	probably benign
R4661:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4662:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4852:Atp4a	UTSW	7	30724268	missense	probably benign	0.10
R4892:Atp4a	UTSW	7	30712474	missense	probably benign	0.07
R4907:Atp4a	UTSW	7	30719092	missense	possibly damaging	0.66
R5024:Atp4a	UTSW	7	30715864	missense	possibly damaging	0.82
R5254:Atp4a	UTSW	7	30715530	missense	probably damaging	1.00
R5318:Atp4a	UTSW	7	30715329	missense	probably damaging	1.00
R5340:Atp4a	UTSW	7	30720806	missense	probably benign
R5484:Atp4a	UTSW	7	30720672	unclassified	probably benign
R5729:Atp4a	UTSW	7	30712426	missense	possibly damaging	0.48
R5762:Atp4a	UTSW	7	30719096	missense	probably damaging	0.99
R5797:Atp4a	UTSW	7	30712649	missense	probably damaging	1.00
R6030:Atp4a	UTSW	7	30722516	missense	probably damaging	0.99
R6030:Atp4a	UTSW	7	30722516	missense	probably damaging	0.99
R6077:Atp4a	UTSW	7	30715919	missense	probably benign	0.00
R6243:Atp4a	UTSW	7	30715957	missense	possibly damaging	0.68
R6346:Atp4a	UTSW	7	30715356	missense	possibly damaging	0.84
R6459:Atp4a	UTSW	7	30712462	missense	probably benign	0.00
R6515:Atp4a	UTSW	7	30712478	missense	possibly damaging	0.78
R6773:Atp4a	UTSW	7	30715377	missense	probably damaging	0.98
R6854:Atp4a	UTSW	7	30715008	missense	probably benign	0.29
R7215:Atp4a	UTSW	7	30717360	missense	possibly damaging	0.61
R7271:Atp4a	UTSW	7	30722519	missense	probably benign	0.16
R7340:Atp4a	UTSW	7	30716730	missense	possibly damaging	0.94
R7457:Atp4a	UTSW	7	30720767	missense	probably benign	0.08
R7593:Atp4a	UTSW	7	30724680	missense	probably benign	0.08
R7712:Atp4a	UTSW	7	30715553	missense	probably damaging	0.96
R7762:Atp4a	UTSW	7	30720036	missense	probably damaging	0.96
R8714:Atp4a	UTSW	7	30720588	missense	probably damaging	0.99
R9324:Atp4a	UTSW	7	30715782	missense	probably benign	0.02
Z1177:Atp4a	UTSW	7	30717840	missense	possibly damaging	0.47
Z1186:Atp4a	UTSW	7	30717357	missense	probably benign

Posted On

2013-10-07