Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Atp4a'

480327

Institutional Source

Beutler Lab

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

MMRRC Submission

044202-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30712209-30725534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 30722516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 826 (E826Q)

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: E835Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: E835Q

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: E826Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: E826Q

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

1x: 99.9%
3x: 99.4%
10x: 96.1%
20x: 86.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,255,733	W59R	probably damaging	Het
Abca16	A	G	7: 120,533,798	N1317D	probably benign	Het
Abhd8	T	A	8: 71,458,150	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,516,364	N297K	probably damaging	Het
Agap1	A	G	1: 89,630,434	D148G	probably damaging	Het
Alox12	T	C	11: 70,254,591	D52G	possibly damaging	Het
Ano5	T	A	7: 51,574,825	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,117,905		probably null	Het
Bbs7	T	C	3: 36,602,911	D256G	probably damaging	Het
Bckdha	T	A	7: 25,631,441	D50V	probably damaging	Het
Cast	A	G	13: 74,695,937	S693P	possibly damaging	Het
Col6a1	T	C	10: 76,709,866	Y924C	unknown	Het
Crkl	A	G	16: 17,452,740	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,919,621	F32L	probably benign	Het
Dmxl2	C	T	9: 54,393,673	V2385I	probably benign	Het
Dnah1	T	A	14: 31,268,027	I3219F	probably damaging	Het
Dnah17	C	T	11: 118,025,549	R4266H	probably benign	Het
Efcab5	A	G	11: 77,121,262	L722P	probably damaging	Het
Emilin3	C	A	2: 160,909,185	V215L	probably benign	Het
Esr1	A	T	10: 4,746,622	N157I	possibly damaging	Het
Esrrg	A	G	1: 188,198,707	M309V	probably benign	Het
Fam120b	G	A	17: 15,401,910	R50Q	probably damaging	Het
Fat2	G	T	11: 55,310,303	Y648*	probably null	Het
Gbp2b	T	A	3: 142,603,653	I175N	probably benign	Het
Gm1043	T	A	5: 37,154,608		probably benign	Het
Gm21060	A	G	19: 61,296,973	C33R	possibly damaging	Het
Gm9803	C	T	10: 43,524,256	A30V	probably benign	Het
Gpx6	C	T	13: 21,312,340	S28L	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifi44	T	C	3: 151,749,558	Q10R	probably benign	Het
Impa2	T	C	18: 67,318,428	V264A	probably benign	Het
Khdc1a	A	T	1: 21,350,884	M98L	probably benign	Het
Lrrc45	T	A	11: 120,720,648	L616*	probably null	Het
Mios	A	T	6: 8,215,704	H300L	probably benign	Het
Mllt6	A	T	11: 97,677,225	T827S	probably damaging	Het
Mrc1	C	A	2: 14,316,901	D1068E	probably benign	Het
Ndst3	T	C	3: 123,552,519	Y702C	probably damaging	Het
Nek11	T	A	9: 105,204,888		probably null	Het
Nek4	T	C	14: 30,956,933	F138S	probably damaging	Het
Nfatc4	T	A	14: 55,832,440	Y688*	probably null	Het
Nlrx1	C	T	9: 44,263,760	V240M	probably damaging	Het
Npy6r	A	T	18: 44,276,082	Y190F	probably benign	Het
Olfr338	T	G	2: 36,377,544	L256R	probably damaging	Het
Olfr472	A	G	7: 107,903,413	E232G	probably benign	Het
Olfr509	A	C	7: 108,646,226	S117A	possibly damaging	Het
Olfr548-ps1	C	A	7: 102,542,610	R225S	probably benign	Het
Olfr780	A	T	10: 129,322,369	T249S	probably benign	Het
Olfr960	T	C	9: 39,623,341	F71L	probably damaging	Het
Osbpl7	A	C	11: 97,052,261	H113P	probably benign	Het
Pck1	A	G	2: 173,154,857	E188G	probably benign	Het
Pimreg	A	G	11: 72,045,750	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,043,237	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,307,934	Q622*	probably null	Het
Ppfia2	T	A	10: 106,906,477	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,058,400	V280A	probably damaging	Het
Ptprf	T	C	4: 118,211,048	N1764D	probably benign	Het
Pygm	C	T	19: 6,388,812	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,698,561	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Sdccag3	T	C	2: 26,386,971	D249G	possibly damaging	Het
Setbp1	T	G	18: 78,857,711	I914L	probably benign	Het
Shprh	A	C	10: 11,151,991	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,885,528	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,519,920		probably null	Het
Spin1	T	A	13: 51,139,516	Y87*	probably null	Het
Srebf2	T	C	15: 82,177,276		probably null	Het
Sufu	T	C	19: 46,475,539	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,063,850	V242G	probably benign	Het
Tgm3	A	T	2: 130,042,000	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,968	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799	D454G	probably benign	Het
Ttn	T	C	2: 76,816,599	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,071,406	G200R	probably damaging	Het
Umps	A	G	16: 33,962,138	V138A	probably benign	Het
Wdr66	C	T	5: 123,274,204	T532M	probably damaging	Het
Ypel1	A	G	16: 17,084,513		probably null	Het
Zdhhc19	T	A	16: 32,499,042	L63Q	probably null	Het

Other mutations in Atp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Atp4a	APN	7	30713204	missense	possibly damaging	0.95
IGL01327:Atp4a	APN	7	30713250	missense	possibly damaging	0.96
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
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

Predicted Primers

Posted On

2017-06-26