Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Atp13a3'

3983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp13a3

Ensembl Gene

ENSMUSG00000022533

Gene Name

ATPase type 13A3

Synonyms

LOC224088, LOC385637, LOC224087

Accession Numbers

Is this an essential gene?

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

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

30312423-30405975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30352354 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 291 (M291T)

Ref Sequence

ENSEMBL: ENSMUSP00000128224 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061350
AA Change: M291T

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: M291T

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

probably benign
Transcript: ENSMUST00000100013
AA Change: M291T

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: M291T

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

noncoding transcript
Transcript: ENSMUST00000149882

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 130,011,872	E837G	possibly damaging	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,801,152	D251E	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,310,041	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,001,741		probably benign	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Smcr8	T	A	11: 60,778,632		probably null	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,954,221	E8G	probably benign	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably 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
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
R6324:Atp13a3	UTSW	16	30332285	missense	possibly damaging	0.72
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

Posted On

2012-04-20