Mutagenetix > Incidental Mutation

Incidental Mutation 'R7593:Atp4a'

587529

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

Accession Numbers

Essential gene?

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

Stock #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30411634-30424959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30424105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 960 (I960V)

Ref Sequence

ENSEMBL: ENSMUSP00000131964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000170371] [ENSMUST00000171014] [ENSMUST00000207263] [ENSMUST00000207296] [ENSMUST00000207779] [ENSMUST00000208169] [ENSMUST00000209065]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005692
AA Change: I969V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: I969V

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

probably benign
Transcript: ENSMUST00000006478

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315

Domain	Start	End	E-Value	Type
Pfam:DUF2053	2	158	3.1e-69	PFAM
transmembrane domain	168	190	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170371
AA Change: I960V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: I960V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207263

Predicted Effect

probably benign
Transcript: ENSMUST00000207296

Predicted Effect

probably benign
Transcript: ENSMUST00000207779

Predicted Effect

probably benign
Transcript: ENSMUST00000208169

Predicted Effect

probably benign
Transcript: ENSMUST00000209065

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,774 (GRCm39)	A170V	probably damaging	Het
Acp6	A	T	3: 97,073,266 (GRCm39)	E102D	probably benign	Het
Acss1	T	A	2: 150,461,688 (GRCm39)	R632*	probably null	Het
Adamtsl1	G	T	4: 86,259,450 (GRCm39)	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,487,095 (GRCm39)	Y91*	probably null	Het
Arhgap35	A	T	7: 16,298,786 (GRCm39)	I93N	probably damaging	Het
Asic2	A	T	11: 81,858,657 (GRCm39)	D118E	probably benign	Het
Asprv1	G	T	6: 86,605,762 (GRCm39)	V203L	probably damaging	Het
Atad2b	G	A	12: 5,081,726 (GRCm39)	D1212N	probably benign	Het
Bin1	G	T	18: 32,552,932 (GRCm39)	E186*	probably null	Het
Bmp10	A	G	6: 87,410,651 (GRCm39)	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,310,137 (GRCm39)	D246V	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,261 (GRCm39)	D81V	probably damaging	Het
Cep162	A	T	9: 87,086,250 (GRCm39)	S1025T	probably benign	Het
Cidea	A	G	18: 67,493,283 (GRCm39)	I101V	probably benign	Het
Clock	G	A	5: 76,384,145 (GRCm39)	S478L	possibly damaging	Het
Cp	T	A	3: 20,020,494 (GRCm39)	N162K	probably benign	Het
Crb1	C	T	1: 139,164,978 (GRCm39)	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 25,780,416 (GRCm39)	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,172,429 (GRCm39)	S580P	possibly damaging	Het
Dars2	T	C	1: 160,885,113 (GRCm39)	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,244,941 (GRCm39)	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,433,193 (GRCm39)	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,407,244 (GRCm39)	F432L	probably damaging	Het
Dnah10	T	C	5: 124,823,608 (GRCm39)	V543A	probably benign	Het
Eef2k	G	A	7: 120,488,491 (GRCm39)		probably null	Het
Elmo1	A	G	13: 20,474,610 (GRCm39)	M345V	probably benign	Het
Ephb4	A	G	5: 137,359,560 (GRCm39)	M377V	probably benign	Het
Erbb4	C	A	1: 68,293,758 (GRCm39)	R711L	probably damaging	Het
Fads1	A	G	19: 10,162,361 (GRCm39)	E95G	probably damaging	Het
Farsa	G	A	8: 85,594,278 (GRCm39)		probably null	Het
Galntl6	A	G	8: 58,230,293 (GRCm39)	S42P	probably damaging	Het
Gga2	G	A	7: 121,589,672 (GRCm39)	T559M	probably benign	Het
Glipr1l2	G	A	10: 111,928,465 (GRCm39)	G120D	probably damaging	Het
Gm14226	A	T	2: 154,866,114 (GRCm39)	I24L	unknown	Het
Gprc5b	G	T	7: 118,583,492 (GRCm39)	R126S	probably damaging	Het
Gys1	A	G	7: 45,092,360 (GRCm39)	D321G	probably damaging	Het
Hdlbp	C	T	1: 93,358,005 (GRCm39)	A299T	probably benign	Het
Hic2	A	G	16: 17,076,979 (GRCm39)	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,220,524 (GRCm39)	I253N	probably damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Inpp5d	T	A	1: 87,645,500 (GRCm39)	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,828,064 (GRCm39)	A1233T	probably benign	Het
Kif9	A	T	9: 110,350,421 (GRCm39)	T771S	possibly damaging	Het
Klre1	T	A	6: 129,560,150 (GRCm39)	C141S	probably damaging	Het
Lats1	A	G	10: 7,577,476 (GRCm39)	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,829,801 (GRCm39)	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,391,778 (GRCm39)	K1216E	probably benign	Het
Lrrc41	G	A	4: 115,950,141 (GRCm39)	R518H	possibly damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Mcm9	C	T	10: 53,506,088 (GRCm39)	R62H	probably benign	Het
Mmp10	T	G	9: 7,503,154 (GRCm39)	L38R	probably damaging	Het
Mroh8	A	G	2: 157,071,867 (GRCm39)	L546P	probably damaging	Het
Mtcl2	A	T	2: 156,882,776 (GRCm39)	D425E	probably benign	Het
Myt1	T	A	2: 181,439,532 (GRCm39)	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,780,901 (GRCm39)	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955 (GRCm38)	D51G	probably benign	Het
Nme5	A	G	18: 34,700,201 (GRCm39)	I148T	probably benign	Het
Nr2e1	G	A	10: 42,439,475 (GRCm39)	P348L	probably damaging	Het
Nrp2	A	G	1: 62,758,203 (GRCm39)	E63G	probably damaging	Het
Or2d2	A	T	7: 106,727,782 (GRCm39)	S273T	probably damaging	Het
Or51ab3	A	T	7: 103,200,956 (GRCm39)		probably benign	Het
Or52e3	A	G	7: 102,869,471 (GRCm39)	E182G	probably damaging	Het
Or52e5	A	G	7: 104,718,704 (GRCm39)	H10R	probably benign	Het
Or56a3	A	G	7: 104,735,372 (GRCm39)	T150A	probably benign	Het
Pak5	A	G	2: 135,942,884 (GRCm39)	S419P	probably benign	Het
Pfas	C	A	11: 68,881,921 (GRCm39)	M25I		Het
Prdm9	A	G	17: 15,764,867 (GRCm39)	S638P	possibly damaging	Het
Psd	G	A	19: 46,301,352 (GRCm39)	T954I	possibly damaging	Het
Psph	T	C	5: 129,864,337 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,069,593 (GRCm39)	I1517T	probably benign	Het
Rassf8	A	G	6: 145,761,129 (GRCm39)	R152G	probably benign	Het
Rfx3	G	A	19: 27,827,139 (GRCm39)	T149I	probably benign	Het
Rfx8	A	T	1: 39,722,838 (GRCm39)	F260I	probably damaging	Het
Rnft1	C	T	11: 86,384,023 (GRCm39)	Q308*	probably null	Het
Rock2	A	G	12: 17,008,241 (GRCm39)	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305 (GRCm39)	R157G	unknown	Het
Ryr1	A	T	7: 28,735,528 (GRCm39)	N4083K	probably damaging	Het
Scd1	G	T	19: 44,388,739 (GRCm39)	T237N	probably benign	Het
Sema3d	T	C	5: 12,558,112 (GRCm39)	F215L	probably benign	Het
Sema7a	C	T	9: 57,867,858 (GRCm39)	T478I	probably benign	Het
Sftpc	T	C	14: 70,759,623 (GRCm39)	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,662,241 (GRCm39)	T139I	probably damaging	Het
Snx27	T	C	3: 94,410,272 (GRCm39)	E468G	possibly damaging	Het
Snx33	T	C	9: 56,834,058 (GRCm39)	K4E	possibly damaging	Het
Soat1	A	T	1: 156,268,148 (GRCm39)	L253*	probably null	Het
Sycp2l	A	T	13: 41,326,192 (GRCm39)	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,557,664 (GRCm39)	I47N	probably damaging	Het
Tmem82	T	A	4: 141,343,605 (GRCm39)	I222F	probably damaging	Het
Ube2o	A	T	11: 116,471,905 (GRCm39)	L112Q	possibly damaging	Het
Vmn1r204	G	A	13: 22,740,754 (GRCm39)	W128*	probably null	Het
Vmn2r114	A	T	17: 23,510,817 (GRCm39)	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,437,213 (GRCm39)	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,215,312 (GRCm39)	L74*	probably null	Het
Vmp1	T	A	11: 86,477,377 (GRCm39)	Y341F	probably benign	Het
Vps13a	A	T	19: 16,703,027 (GRCm39)	V642D	probably damaging	Het
Vps33a	T	C	5: 123,674,619 (GRCm39)	M383V	probably benign	Het
Vwf	G	A	6: 125,624,731 (GRCm39)	V1827I		Het
Zc3hav1	A	G	6: 38,306,121 (GRCm39)	Y644H	probably benign	Het
Zfp429	A	C	13: 67,538,410 (GRCm39)	C345G	probably damaging	Het
Zfp595	T	C	13: 67,464,823 (GRCm39)	H483R	probably benign	Het
Zfp748	G	T	13: 67,690,638 (GRCm39)	H207Q	probably benign	Het
Zfp758	T	C	17: 22,593,939 (GRCm39)	S142P	probably damaging	Het
Znfx1	A	C	2: 166,898,145 (GRCm39)	S260A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCATATCTTAACCCCGGGG -3'
(R):5'- ACCACTGGAACCTAAAGGGC -3'

Sequencing Primer
(F):5'- ATATCTTAACCCCGGGGCTGAG -3'
(R):5'- CACTGGAACCTAAAGGGCAGGAG -3'

Posted On

2019-10-24