Mutagenetix > Incidental Mutation

Incidental Mutation 'R7241:Atp13a3'

563242

Institutional Source

Beutler Lab

Gene Symbol

Atp13a3

Ensembl Gene

ENSMUSG00000022533

Gene Name

ATPase type 13A3

Synonyms

LOC224088, LOC385637, LOC224087

MMRRC Submission

045348-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.571) question?

Stock #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30131241-30207674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30171095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 317 (M317L)

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: M317L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: M317L

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: M317L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: M317L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,184 (GRCm39)	T612A	probably damaging	Het
Acacb	G	A	5: 114,383,161 (GRCm39)	A2115T	possibly damaging	Het
Adam32	T	C	8: 25,388,510 (GRCm39)	K398R	probably benign	Het
Adam9	T	A	8: 25,441,002 (GRCm39)	I824F	possibly damaging	Het
Ahnak	A	G	19: 8,986,395 (GRCm39)	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,542,644 (GRCm39)	M1I	probably null	Het
Anks1b	T	G	10: 90,348,699 (GRCm39)	I789S	probably damaging	Het
Ap2b1	T	A	11: 83,241,931 (GRCm39)	N641K	probably benign	Het
Arhgap33	A	G	7: 30,228,146 (GRCm39)	L412P	probably damaging	Het
B4galt5	A	G	2: 167,148,617 (GRCm39)	L167P	probably damaging	Het
Bace2	T	C	16: 97,237,998 (GRCm39)	I483T	possibly damaging	Het
C2cd3	A	C	7: 100,056,257 (GRCm39)	K177T		Het
Ccr4	T	C	9: 114,322,024 (GRCm39)	T14A	probably benign	Het
Cep250	A	T	2: 155,833,472 (GRCm39)	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,632,052 (GRCm39)	Q433R	probably benign	Het
Copb1	C	T	7: 113,836,591 (GRCm39)	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,079,012 (GRCm39)	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,459,499 (GRCm39)	I78V	probably benign	Het
Cyth4	A	G	15: 78,491,245 (GRCm39)	K108R	probably benign	Het
Dnah1	T	C	14: 30,986,896 (GRCm39)	H3632R	probably benign	Het
Dnah3	T	C	7: 119,542,856 (GRCm39)	I540V	probably benign	Het
Dock4	A	G	12: 40,844,859 (GRCm39)	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,477,879 (GRCm39)	T291A	probably damaging	Het
Eeig1	A	G	2: 32,448,076 (GRCm39)	R62G	probably benign	Het
Fbn1	T	C	2: 125,148,415 (GRCm39)	N2611S	possibly damaging	Het
Fcsk	A	G	8: 111,622,529 (GRCm39)	I133T	probably benign	Het
Fhod3	A	G	18: 25,193,409 (GRCm39)	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,852,013 (GRCm39)	D522E	probably benign	Het
Ganc	T	A	2: 120,272,010 (GRCm39)	I556K	probably damaging	Het
Gjc2	T	A	11: 59,067,960 (GRCm39)	E174V	unknown	Het
Gzmd	G	A	14: 56,368,799 (GRCm39)	R32C	probably damaging	Het
Hltf	T	A	3: 20,119,556 (GRCm39)	H200Q	probably benign	Het
Ift88	A	G	14: 57,717,454 (GRCm39)	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,350,322 (GRCm39)	C115F	probably damaging	Het
Impdh2	A	G	9: 108,440,636 (GRCm39)	N279S	possibly damaging	Het
Itpr1	T	C	6: 108,494,581 (GRCm39)		probably null	Het
Kansl1l	T	C	1: 66,840,787 (GRCm39)	N171S	possibly damaging	Het
Kif14	T	A	1: 136,396,491 (GRCm39)	C266S	probably benign	Het
Kif19b	A	G	5: 140,447,943 (GRCm39)	T137A	probably damaging	Het
Lrriq1	A	C	10: 103,051,834 (GRCm39)	V306G	probably damaging	Het
Mast4	G	A	13: 103,470,508 (GRCm39)	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,223,091 (GRCm39)	D55G		Het
Mrps27	A	T	13: 99,547,788 (GRCm39)	K233*	probably null	Het
Myo1f	A	G	17: 33,798,902 (GRCm39)	N189S	probably damaging	Het
Nbn	A	T	4: 15,991,190 (GRCm39)	K729N	probably benign	Het
Or1e35	T	C	11: 73,798,058 (GRCm39)	S87G	probably benign	Het
Or8k35	C	A	2: 86,424,498 (GRCm39)	V225F	possibly damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Plaat5	A	G	19: 7,591,946 (GRCm39)	T121A	probably benign	Het
Polr1e	A	C	4: 45,029,340 (GRCm39)	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,299,874 (GRCm39)	V595A		Het
Prdm15	T	C	16: 97,596,941 (GRCm39)	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,353,516 (GRCm39)	M460K	probably benign	Het
Prkd2	G	T	7: 16,591,730 (GRCm39)	R587L	probably benign	Het
Prkn	C	A	17: 12,073,748 (GRCm39)	N355K	possibly damaging	Het
Rabep1	C	A	11: 70,830,815 (GRCm39)	T829N	probably damaging	Het
Rptn	A	G	3: 93,303,261 (GRCm39)	E198G	probably benign	Het
Ryr2	A	T	13: 11,680,799 (GRCm39)	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 120,960,708 (GRCm39)	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,621,346 (GRCm39)	S243G	probably benign	Het
Spata31h1	T	C	10: 82,122,876 (GRCm39)	E3378G	probably benign	Het
Taf2	T	A	15: 54,925,537 (GRCm39)	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,306,493 (GRCm39)	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,416,468 (GRCm39)	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,066,295 (GRCm39)	T139K	probably damaging	Het
Timm10	T	A	2: 84,660,333 (GRCm39)	*91R	probably null	Het
Tlr11	T	A	14: 50,599,598 (GRCm39)	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,779,444 (GRCm39)	L278Q	probably damaging	Het
Toe1	A	T	4: 116,664,715 (GRCm39)	M1K	probably null	Het
Trpv5	G	A	6: 41,652,242 (GRCm39)	R148*	probably null	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Ttn	A	G	2: 76,783,550 (GRCm39)	V860A	unknown	Het
Txnip	T	C	3: 96,466,991 (GRCm39)	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,170,725 (GRCm39)	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,622,193 (GRCm39)	Y364H	probably damaging	Het
Unc5a	A	T	13: 55,138,833 (GRCm39)	T71S	probably damaging	Het
Vmn1r123	A	T	7: 20,896,537 (GRCm39)	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,651,891 (GRCm39)	I18N	probably damaging	Het
Washc2	A	G	6: 116,185,168 (GRCm39)	M1V	probably null	Het
Zfp174	C	A	16: 3,666,111 (GRCm39)	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,131,943 (GRCm39)	H227R	possibly 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
R2421:Atp13a3	UTSW	16	30,168,643 (GRCm39)	missense	probably benign	0.29
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
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'- CAGAAGTGATTATAGTTTCCAGCC -3'
(R):5'- ACTCCATGTGATGCAATTGTGG -3'

Sequencing Primer
(F):5'- CCAGCCTAGAATGTAGTCTATCTAC -3'
(R):5'- GTGGTATTAACCCTACTGTAGCAG -3'

Posted On

2019-06-26