Mutagenetix > Incidental Mutations

Incidental Mutation 'R6324:Atp13a3'

510669

Institutional Source

Beutler Lab

Gene Symbol

Atp13a3

Ensembl Gene

ENSMUSG00000022533

Gene Name

ATPase type 13A3

Synonyms

LOC224088, LOC385637, LOC224087

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.469) question?

Stock #

R6324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30312423-30405975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30332285 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1069 (V1069A)

Ref Sequence

ENSEMBL: ENSMUSP00000128224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061350] [ENSMUST00000100013]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061350
AA Change: V1069A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: V1069A

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	13	139	4.9e-30	PFAM
Cation_ATPase_N	154	227	7.24e0	SMART
Pfam:E1-E2_ATPase	232	483	5.1e-36	PFAM
Pfam:HAD	491	888	7.5e-28	PFAM
Pfam:Hydrolase_like2	607	661	6.8e-8	PFAM
Pfam:Hydrolase	612	790	6.5e-11	PFAM
transmembrane domain	931	953	N/A	INTRINSIC
transmembrane domain	963	985	N/A	INTRINSIC
transmembrane domain	997	1019	N/A	INTRINSIC
transmembrane domain	1068	1085	N/A	INTRINSIC
transmembrane domain	1098	1120	N/A	INTRINSIC
transmembrane domain	1135	1153	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100013
AA Change: V1069A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: V1069A

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	13	146	2.9e-38	PFAM
Cation_ATPase_N	154	227	7.24e0	SMART
Pfam:E1-E2_ATPase	232	483	7.3e-41	PFAM
Pfam:Hydrolase	488	784	1.3e-12	PFAM
Pfam:HAD	491	888	1.3e-31	PFAM
Pfam:Cation_ATPase	612	660	4.5e-7	PFAM
transmembrane domain	931	953	N/A	INTRINSIC
transmembrane domain	963	985	N/A	INTRINSIC
transmembrane domain	997	1019	N/A	INTRINSIC
transmembrane domain	1068	1085	N/A	INTRINSIC
transmembrane domain	1098	1120	N/A	INTRINSIC
transmembrane domain	1135	1157	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000229503
AA Change: V78A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229750

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	T	A	19: 11,163,447	M3L	probably benign	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Atp1a2	C	G	1: 172,289,336	R238P	probably damaging	Het
Baz2b	A	G	2: 59,906,948	S1877P	probably damaging	Het
Ccdc114	A	G	7: 45,941,710	E203G	probably damaging	Het
Ccdc27	A	T	4: 154,036,191	S383T	probably benign	Het
Cr1l	A	G	1: 195,111,122	V377A	probably benign	Het
Dazap1	A	G	10: 80,277,660	E130G	probably benign	Het
Dchs1	G	T	7: 105,764,938	A890E	probably benign	Het
Dock10	G	A	1: 80,505,176	T2143I	probably benign	Het
Eif3j1	A	G	2: 122,041,178	D60G	probably benign	Het
Enah	A	G	1: 181,918,571	S382P	probably damaging	Het
Fam171b	A	T	2: 83,879,264	K427*	probably null	Het
Fmn2	A	T	1: 174,612,553	I1179L	possibly damaging	Het
Focad	C	T	4: 88,401,068	R1505*	probably null	Het
Frem1	T	C	4: 82,983,337	T985A	probably benign	Het
Gm3404	A	T	5: 146,528,107	Q219L	possibly damaging	Het
Gm5592	A	C	7: 41,286,535	S154R	probably damaging	Het
Gpn3	C	T	5: 122,372,575		probably benign	Het
Gpr158	A	G	2: 21,810,554	E586G	probably damaging	Het
Gstp2	A	T	19: 4,040,499	I162N	probably benign	Het
Lin7a	T	A	10: 107,380,215		probably null	Het
Loxl4	G	A	19: 42,595,378	L745F	probably benign	Het
Mybpc1	A	G	10: 88,568,619	I172T	possibly damaging	Het
Nalcn	A	G	14: 123,409,749	W571R	possibly damaging	Het
Nkx2-5	G	C	17: 26,841,121	P79A	probably benign	Het
Nufip2	A	G	11: 77,691,661	T134A	probably benign	Het
Olfr1042	C	T	2: 86,159,456	V305I	probably benign	Het
Olfr1342	G	A	4: 118,690,531		probably benign	Het
Olfr1463	A	G	19: 13,235,104	M285V	possibly damaging	Het
Phkb	A	G	8: 86,018,542	D616G	probably benign	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prl7b1	A	T	13: 27,602,895		probably null	Het
Prop1	G	A	11: 50,952,199	P54S	probably benign	Het
Ptcd3	C	T	6: 71,885,327	V509I	probably benign	Het
Ptprg	T	A	14: 12,226,314	D527E	probably damaging	Het
Rapgef2	C	T	3: 79,079,132	V1182I	probably benign	Het
Rfx7	C	A	9: 72,618,414	P962Q	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Slc38a9	A	G	13: 112,726,100	I444M	probably benign	Het
Sorbs1	T	C	19: 40,321,819	T492A	probably damaging	Het
Synj1	A	T	16: 90,938,630	S1478R	probably benign	Het
Tnn	T	A	1: 160,145,204	N276I	probably damaging	Het
Trbv19	G	A	6: 41,178,758	G21D	probably damaging	Het
Ube2o	A	T	11: 116,539,359	D1184E	probably benign	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r108	A	T	17: 20,471,715	L182*	probably null	Het
Vmn2r15	A	G	5: 109,286,271	*856R	probably null	Het
Vmn2r70	G	A	7: 85,558,879	H797Y	probably benign	Het
Zfp11	C	T	5: 129,656,523	A625T	possibly damaging	Het

Other mutations in Atp13a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Atp13a3	APN	16	30351279	missense	probably damaging	0.99
IGL00490:Atp13a3	APN	16	30352354	missense	probably benign	0.31
IGL01844:Atp13a3	APN	16	30361963	missense	probably benign	0.17
IGL01994:Atp13a3	APN	16	30337518	missense	possibly damaging	0.90
IGL02057:Atp13a3	APN	16	30332364	missense	probably benign
IGL02083:Atp13a3	APN	16	30347706	missense	possibly damaging	0.89
IGL02348:Atp13a3	APN	16	30351228	critical splice donor site	probably null
IGL02352:Atp13a3	APN	16	30351084	missense	probably damaging	1.00
IGL02359:Atp13a3	APN	16	30351084	missense	probably damaging	1.00
IGL02643:Atp13a3	APN	16	30333796	missense	probably null
IGL02687:Atp13a3	APN	16	30337551	missense	probably damaging	1.00
IGL02951:Atp13a3	APN	16	30338621	splice site	probably null
IGL03190:Atp13a3	APN	16	30322948	missense	probably benign	0.00
H8562:Atp13a3	UTSW	16	30359725	nonsense	probably null
H8786:Atp13a3	UTSW	16	30359725	nonsense	probably null
PIT4812001:Atp13a3	UTSW	16	30362578	missense	probably damaging	0.98
R0725:Atp13a3	UTSW	16	30351387	missense	probably damaging	1.00
R1208:Atp13a3	UTSW	16	30354247	missense	probably benign	0.21
R1208:Atp13a3	UTSW	16	30354247	missense	probably benign	0.21
R1244:Atp13a3	UTSW	16	30361836	missense	probably benign	0.00
R1326:Atp13a3	UTSW	16	30352310	missense	probably damaging	1.00
R1613:Atp13a3	UTSW	16	30332300	missense	probably damaging	1.00
R1672:Atp13a3	UTSW	16	30332274	missense	possibly damaging	0.96
R1709:Atp13a3	UTSW	16	30315841	missense	probably benign	0.37
R1733:Atp13a3	UTSW	16	30357266	missense	probably benign	0.35
R2086:Atp13a3	UTSW	16	30352298	missense	possibly damaging	0.89
R2128:Atp13a3	UTSW	16	30354276	missense	probably damaging	0.97
R2421:Atp13a3	UTSW	16	30349825	missense	probably benign	0.29
R3427:Atp13a3	UTSW	16	30344593	missense	probably benign	0.05
R3783:Atp13a3	UTSW	16	30354249	missense	probably damaging	1.00
R4058:Atp13a3	UTSW	16	30354246	missense	possibly damaging	0.94
R4059:Atp13a3	UTSW	16	30354246	missense	possibly damaging	0.94
R4798:Atp13a3	UTSW	16	30341240	missense	probably damaging	1.00
R5045:Atp13a3	UTSW	16	30339876	missense	probably benign	0.24
R5216:Atp13a3	UTSW	16	30340284	missense	probably damaging	1.00
R5704:Atp13a3	UTSW	16	30321879	missense	probably benign	0.18
R5876:Atp13a3	UTSW	16	30362734	missense	probably benign	0.13
R5947:Atp13a3	UTSW	16	30362700	missense	probably benign	0.01
R6291:Atp13a3	UTSW	16	30336243	missense	probably damaging	0.99
R6328:Atp13a3	UTSW	16	30336235	missense	probably damaging	0.99
R6372:Atp13a3	UTSW	16	30343455	missense	probably damaging	0.99
R6446:Atp13a3	UTSW	16	30361869	missense	probably benign	0.00
R7016:Atp13a3	UTSW	16	30338490	missense	possibly damaging	0.54
R7086:Atp13a3	UTSW	16	30351063	missense	possibly damaging	0.87
R7241:Atp13a3	UTSW	16	30352277	missense	possibly damaging	0.93
R7589:Atp13a3	UTSW	16	30344615	missense	probably benign	0.04
R8098:Atp13a3	UTSW	16	30354297	missense	possibly damaging	0.85
R8191:Atp13a3	UTSW	16	30349780	missense	probably damaging	1.00
R8299:Atp13a3	UTSW	16	30333801	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCTCCATGAAAGAATTGCC -3'
(R):5'- GGCATCTAAAATAACATTGGCCC -3'

Sequencing Primer
(F):5'- GCTAAGTAGGATTGCTGGCATG -3'
(R):5'- CTAAAATAACATTGGCCCCTTGG -3'

Posted On

2018-04-02