Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Atp13a3'

249326

Institutional Source

Beutler Lab

Gene Symbol

Atp13a3

Ensembl Gene

ENSMUSG00000022533

Gene Name

ATPase type 13A3

Synonyms

LOC224088, LOC385637, LOC224087

MMRRC Submission

040383-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.497) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30131241-30207674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30168643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 449 (T449A)

Ref Sequence

ENSEMBL: ENSMUSP00000128224 (fasta)

Gene Model

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

AlphaFold

Q5XF89

Predicted Effect

probably benign
Transcript: ENSMUST00000061350
AA Change: T449A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: T449A

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: T449A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: T449A

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

Meta Mutation Damage Score

0.0974

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,386,166 (GRCm39)	L1118Q	probably damaging	Het
Adgre4	A	G	17: 56,085,872 (GRCm39)	E57G	probably benign	Het
Alpk2	T	C	18: 65,439,687 (GRCm39)	S1036G	probably benign	Het
Ank3	T	C	10: 69,818,034 (GRCm39)		probably benign	Het
Ankfy1	T	A	11: 72,646,722 (GRCm39)		probably benign	Het
Antxrl	A	G	14: 33,793,646 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,856,585 (GRCm39)	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,609,346 (GRCm39)	T1025S	probably damaging	Het
Arhgef12	A	T	9: 42,912,302 (GRCm39)	C519S	probably damaging	Het
Aspm	G	A	1: 139,416,225 (GRCm39)	V1512M	possibly damaging	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,574,064 (GRCm39)	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,329,103 (GRCm39)		probably benign	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,647,996 (GRCm39)		probably benign	Het
Coq10b	G	A	1: 55,092,136 (GRCm39)	A35T	probably benign	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Creb3l3	T	C	10: 80,927,652 (GRCm39)	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,914,160 (GRCm39)	I15N	probably benign	Het
Dcp1b	A	G	6: 119,192,227 (GRCm39)	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Dnal1	C	T	12: 84,183,480 (GRCm39)	Q80*	probably null	Het
Dtd2	A	G	12: 52,046,638 (GRCm39)	V67A	probably benign	Het
Gart	A	G	16: 91,439,928 (GRCm39)		probably null	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,577,958 (GRCm39)		noncoding transcript	Het
Gm8674	T	C	13: 50,054,699 (GRCm39)		noncoding transcript	Het
Gpr107	G	A	2: 31,075,541 (GRCm39)	G351S	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lenep	G	A	3: 89,309,881 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 40,772,145 (GRCm39)		probably benign	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787 (GRCm39)	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621 (GRCm39)	I2519K	probably damaging	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,432,061 (GRCm39)	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or13a1	T	A	6: 116,470,674 (GRCm39)	C35S	probably benign	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5k8	T	C	16: 58,644,709 (GRCm39)	D121G	probably damaging	Het
Pef1	C	A	4: 130,021,110 (GRCm39)	C221*	probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,732,517 (GRCm39)	I460N	probably benign	Het
Ppfia4	T	C	1: 134,255,138 (GRCm39)	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Prlr	T	A	15: 10,319,343 (GRCm39)	W91R	probably damaging	Het
Psmd2	T	A	16: 20,478,856 (GRCm39)		probably null	Het
Ptprt	T	A	2: 162,119,960 (GRCm39)		probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Rbm12b2	T	C	4: 12,095,127 (GRCm39)	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,163,057 (GRCm39)	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,606,123 (GRCm39)	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,556,646 (GRCm39)		probably benign	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Syt9	G	A	7: 107,035,988 (GRCm39)	R335K	probably benign	Het
Taar7a	T	C	10: 23,868,415 (GRCm39)	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,361,231 (GRCm39)	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyw1	A	T	5: 130,298,101 (GRCm39)	H214L	probably damaging	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vangl2	T	C	1: 171,835,526 (GRCm39)	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Vps13a	T	G	19: 16,737,035 (GRCm39)	I101L	probably benign	Het
Washc4	T	A	10: 83,415,385 (GRCm39)	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,496,041 (GRCm39)	H608Y	probably benign	Het
Wdr48	T	A	9: 119,731,470 (GRCm39)	I56K	probably damaging	Het
Xpo4	T	C	14: 57,866,960 (GRCm39)	D194G	probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp821	T	A	8: 110,436,165 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,769,525 (GRCm39)	Y1237C	probably damaging	Het

Other mutations in Atp13a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Atp13a3	APN	16	30,170,097 (GRCm39)	missense	probably damaging	0.99
IGL00490:Atp13a3	APN	16	30,171,172 (GRCm39)	missense	probably benign	0.31
IGL01844:Atp13a3	APN	16	30,180,781 (GRCm39)	missense	probably benign	0.17
IGL01994:Atp13a3	APN	16	30,156,336 (GRCm39)	missense	possibly damaging	0.90
IGL02057:Atp13a3	APN	16	30,151,182 (GRCm39)	missense	probably benign
IGL02083:Atp13a3	APN	16	30,166,524 (GRCm39)	missense	possibly damaging	0.89
IGL02348:Atp13a3	APN	16	30,170,046 (GRCm39)	critical splice donor site	probably null
IGL02352:Atp13a3	APN	16	30,169,902 (GRCm39)	missense	probably damaging	1.00
IGL02359:Atp13a3	APN	16	30,169,902 (GRCm39)	missense	probably damaging	1.00
IGL02643:Atp13a3	APN	16	30,152,614 (GRCm39)	missense	probably null
IGL02687:Atp13a3	APN	16	30,156,369 (GRCm39)	missense	probably damaging	1.00
IGL02951:Atp13a3	APN	16	30,157,439 (GRCm39)	splice site	probably null
IGL03190:Atp13a3	APN	16	30,141,766 (GRCm39)	missense	probably benign	0.00
H8562:Atp13a3	UTSW	16	30,178,543 (GRCm39)	nonsense	probably null
H8786:Atp13a3	UTSW	16	30,178,543 (GRCm39)	nonsense	probably null
PIT4812001:Atp13a3	UTSW	16	30,181,396 (GRCm39)	missense	probably damaging	0.98
R0725:Atp13a3	UTSW	16	30,170,205 (GRCm39)	missense	probably damaging	1.00
R1208:Atp13a3	UTSW	16	30,173,065 (GRCm39)	missense	probably benign	0.21
R1208:Atp13a3	UTSW	16	30,173,065 (GRCm39)	missense	probably benign	0.21
R1244:Atp13a3	UTSW	16	30,180,654 (GRCm39)	missense	probably benign	0.00
R1326:Atp13a3	UTSW	16	30,171,128 (GRCm39)	missense	probably damaging	1.00
R1613:Atp13a3	UTSW	16	30,151,118 (GRCm39)	missense	probably damaging	1.00
R1672:Atp13a3	UTSW	16	30,151,092 (GRCm39)	missense	possibly damaging	0.96
R1709:Atp13a3	UTSW	16	30,134,659 (GRCm39)	missense	probably benign	0.37
R1733:Atp13a3	UTSW	16	30,176,084 (GRCm39)	missense	probably benign	0.35
R2086:Atp13a3	UTSW	16	30,171,116 (GRCm39)	missense	possibly damaging	0.89
R2128:Atp13a3	UTSW	16	30,173,094 (GRCm39)	missense	probably damaging	0.97
R3427:Atp13a3	UTSW	16	30,163,411 (GRCm39)	missense	probably benign	0.05
R3783:Atp13a3	UTSW	16	30,173,067 (GRCm39)	missense	probably damaging	1.00
R4058:Atp13a3	UTSW	16	30,173,064 (GRCm39)	missense	possibly damaging	0.94
R4059:Atp13a3	UTSW	16	30,173,064 (GRCm39)	missense	possibly damaging	0.94
R4798:Atp13a3	UTSW	16	30,160,058 (GRCm39)	missense	probably damaging	1.00
R5045:Atp13a3	UTSW	16	30,158,694 (GRCm39)	missense	probably benign	0.24
R5216:Atp13a3	UTSW	16	30,159,102 (GRCm39)	missense	probably damaging	1.00
R5704:Atp13a3	UTSW	16	30,140,697 (GRCm39)	missense	probably benign	0.18
R5876:Atp13a3	UTSW	16	30,181,552 (GRCm39)	missense	probably benign	0.13
R5947:Atp13a3	UTSW	16	30,181,518 (GRCm39)	missense	probably benign	0.01
R6291:Atp13a3	UTSW	16	30,155,061 (GRCm39)	missense	probably damaging	0.99
R6324:Atp13a3	UTSW	16	30,151,103 (GRCm39)	missense	possibly damaging	0.72
R6328:Atp13a3	UTSW	16	30,155,053 (GRCm39)	missense	probably damaging	0.99
R6372:Atp13a3	UTSW	16	30,162,273 (GRCm39)	missense	probably damaging	0.99
R6446:Atp13a3	UTSW	16	30,180,687 (GRCm39)	missense	probably benign	0.00
R7016:Atp13a3	UTSW	16	30,157,308 (GRCm39)	missense	possibly damaging	0.54
R7086:Atp13a3	UTSW	16	30,169,881 (GRCm39)	missense	possibly damaging	0.87
R7241:Atp13a3	UTSW	16	30,171,095 (GRCm39)	missense	possibly damaging	0.93
R7589:Atp13a3	UTSW	16	30,163,433 (GRCm39)	missense	probably benign	0.04
R8098:Atp13a3	UTSW	16	30,173,115 (GRCm39)	missense	possibly damaging	0.85
R8191:Atp13a3	UTSW	16	30,168,598 (GRCm39)	missense	probably damaging	1.00
R8299:Atp13a3	UTSW	16	30,152,619 (GRCm39)	missense	probably damaging	1.00
R8785:Atp13a3	UTSW	16	30,169,800 (GRCm39)	missense	probably benign	0.04
R9109:Atp13a3	UTSW	16	30,134,716 (GRCm39)	missense	possibly damaging	0.77
R9604:Atp13a3	UTSW	16	30,168,506 (GRCm39)	missense	probably damaging	0.99
R9800:Atp13a3	UTSW	16	30,159,051 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAAATTAATTCATAAAGGGAGCAC -3'
(R):5'- TCATGTGAAGAATGCACGCTG -3'

Sequencing Primer
(F):5'- GGAGCACAAACATAAAAAGTACACTG -3'
(R):5'- GCCTAGGGCCTCAAACATTATAGG -3'

Posted On

2014-11-12