Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Atp13a3'

403501

Institutional Source

Beutler Lab

Gene Symbol

Atp13a3

Ensembl Gene

ENSMUSG00000022533

Gene Name

ATPase type 13A3

Synonyms

LOC224088, LOC385637, LOC224087

MMRRC Submission

042789-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R5216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30312423-30405975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30340284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 783 (I783T)

Ref Sequence

ENSEMBL: ENSMUSP00000128224 (fasta)

Gene Model

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

AlphaFold

Q5XF89

Predicted Effect

probably damaging
Transcript: ENSMUST00000061350
AA Change: I783T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: I783T

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 damaging
Transcript: ENSMUST00000100013
AA Change: I783T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: I783T

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,061,162	V84D	probably damaging	Het
Abcb1b	T	C	5: 8,813,705	V220A	probably benign	Het
Actg1	A	T	11: 120,347,754	M82K	probably damaging	Het
Ahi1	T	C	10: 20,960,076	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,401,842	T507A	probably benign	Het
Atg7	A	G	6: 114,724,949	D682G	probably damaging	Het
Atp9a	T	C	2: 168,674,888	I362V	probably benign	Het
BC067074	G	A	13: 113,342,413	C1497Y	probably benign	Het
Birc6	T	A	17: 74,613,470	I168K	probably damaging	Het
Brca2	T	A	5: 150,542,980	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,738,873	I199T	probably damaging	Het
Cacng5	A	G	11: 107,877,489	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,315,310	E481K	possibly damaging	Het
Ctr9	T	A	7: 111,045,458	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,211,986	R1451C	probably damaging	Het
Fat3	T	C	9: 16,377,537	D230G	probably damaging	Het
Gramd4	G	A	15: 86,134,785		probably null	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Hoxd1	A	T	2: 74,764,351	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,439,441	S623P	probably benign	Het
Klhl20	A	G	1: 161,093,679		probably null	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,242,760	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Mgll	T	A	6: 88,766,329	C110*	probably null	Het
Mmp14	A	G	14: 54,437,663	N251D	possibly damaging	Het
Olfr393	A	T	11: 73,847,436	S230T	probably damaging	Het
Olfr552	A	G	7: 102,604,821	T156A	probably benign	Het
Olfr857	T	A	9: 19,713,289	V154E	probably benign	Het
Pfkl	T	G	10: 78,009,670	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,272,976	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,495,647	Y417*	probably null	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Sulf1	T	A	1: 12,796,874	M94K	probably benign	Het
Synrg	A	G	11: 83,982,196	T157A	probably damaging	Het
Syt1	T	C	10: 108,642,257	N102S	probably benign	Het
Tnip2	C	T	5: 34,503,805	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,252,184	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,447,163	D57G	probably benign	Het
Wnt2b	A	G	3: 104,961,345	L43P	possibly damaging	Het
Zfp113	C	T	5: 138,150,715	D56N	probably damaging	Het
Zfp184	C	T	13: 21,950,236	L69F	probably damaging	Het
Zyx	T	C	6: 42,356,532	V464A	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
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
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
R8785:Atp13a3	UTSW	16	30350982	missense	probably benign	0.04
R9109:Atp13a3	UTSW	16	30315898	missense	possibly damaging	0.77
R9604:Atp13a3	UTSW	16	30349688	missense	probably damaging	0.99
R9800:Atp13a3	UTSW	16	30340233	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGGAATGATAGTCCTGGCTTC -3'
(R):5'- CACTACAGTAGAAGCCTAGTGC -3'

Sequencing Primer
(F):5'- GAATGATAGTCCTGGCTTCTATTTTC -3'
(R):5'- CTAGTGCTTGTTCTATATGTCCATG -3'

Posted On

2016-07-22