Mutagenetix > Incidental Mutation

Incidental Mutation 'R8098:Atp13a3'

630357

Institutional Source

Beutler Lab

Gene Symbol

Atp13a3

Ensembl Gene

ENSMUSG00000022533

Gene Name

ATPase type 13A3

Synonyms

LOC224088, LOC385637, LOC224087

MMRRC Submission

067530-MU

Accession Numbers

Essential gene?

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

Stock #

R8098 (G1)

Quality Score

179.009

Status

Not validated

Chromosome

Chromosomal Location

30131241-30207674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30173115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 254 (V254G)

Ref Sequence

ENSEMBL: ENSMUSP00000128224 (fasta)

Gene Model

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

AlphaFold

Q5XF89

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061350
AA Change: V254G

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: V254G

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: V254G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: V254G

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,384,618 (GRCm39)	L449P	probably damaging	Het
Abca15	A	G	7: 119,960,619 (GRCm39)	S694G	probably benign	Het
Abcc6	A	G	7: 45,646,089 (GRCm39)	L800P	probably damaging	Het
Adam15	T	A	3: 89,251,193 (GRCm39)	D504V	probably damaging	Het
Adnp	T	C	2: 168,024,452 (GRCm39)	T948A	probably benign	Het
Akap11	T	C	14: 78,750,362 (GRCm39)	D675G		Het
Atp1a1	A	G	3: 101,489,365 (GRCm39)	I749T	probably damaging	Het
B3glct	T	A	5: 149,673,965 (GRCm39)	Y369*	probably null	Het
Bms1	C	T	6: 118,361,219 (GRCm39)	R1204H	probably damaging	Het
Btla	T	A	16: 45,064,612 (GRCm39)	L188*	probably null	Het
Btn2a2	A	G	13: 23,666,058 (GRCm39)	V258A	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1g	T	C	11: 94,307,338 (GRCm39)	H1782R	probably benign	Het
Calcoco1	T	C	15: 102,624,759 (GRCm39)	D172G	probably benign	Het
Ccdc192	A	T	18: 57,800,403 (GRCm39)	I185L	probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Ckap4	A	G	10: 84,369,499 (GRCm39)	S78P	probably damaging	Het
Col6a3	A	T	1: 90,731,383 (GRCm39)	D1623E	probably benign	Het
Col7a1	A	G	9: 108,785,763 (GRCm39)	T411A	unknown	Het
Cpt1a	A	C	19: 3,420,849 (GRCm39)	I436L	probably benign	Het
Cyp2c23	T	A	19: 44,004,242 (GRCm39)	I173F	probably benign	Het
Dcun1d2	T	C	8: 13,311,396 (GRCm39)	T198A	probably benign	Het
Ddx50	A	C	10: 62,460,922 (GRCm39)		probably null	Het
Depdc1b	A	G	13: 108,460,593 (GRCm39)	T68A	probably damaging	Het
Dgkq	G	A	5: 108,800,334 (GRCm39)	R546W	probably damaging	Het
Dmbt1	G	A	7: 130,710,188 (GRCm39)	W1493*	probably null	Het
Dnah17	A	G	11: 117,941,193 (GRCm39)	S3219P	probably damaging	Het
Egf	T	A	3: 129,484,486 (GRCm39)	Y986F	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Ep400	A	T	5: 110,841,117 (GRCm39)	M1805K	unknown	Het
Exoc3	A	G	13: 74,320,271 (GRCm39)	M730T	probably benign	Het
Fbxl13	T	A	5: 21,825,716 (GRCm39)	M129L	probably benign	Het
Fem1al	A	G	11: 29,774,450 (GRCm39)	S336P	possibly damaging	Het
Gins4	T	A	8: 23,727,037 (GRCm39)	M19L	probably benign	Het
Gm3238	T	C	10: 77,606,474 (GRCm39)	N229S	unknown	Het
Gpd2	T	A	2: 57,180,020 (GRCm39)	V89D	possibly damaging	Het
Hectd4	G	A	5: 121,459,461 (GRCm39)	V777I	possibly damaging	Het
Hgf	T	A	5: 16,766,059 (GRCm39)	V65E	probably benign	Het
Hnrnpdl	A	G	5: 100,185,779 (GRCm39)	S169P	probably benign	Het
Igfbp3	T	C	11: 7,160,104 (GRCm39)	D183G	possibly damaging	Het
Il16	A	G	7: 83,295,767 (GRCm39)	V1134A	probably damaging	Het
Kcnn4	A	G	7: 24,083,504 (GRCm39)	D395G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kif13a	T	C	13: 46,968,780 (GRCm39)	N354S	probably damaging	Het
Lrp1	C	T	10: 127,410,324 (GRCm39)	R1474Q	possibly damaging	Het
Map3k9	T	C	12: 81,780,888 (GRCm39)	Q424R	probably damaging	Het
Mkx	A	C	18: 6,992,784 (GRCm39)	S167A	possibly damaging	Het
Ms4a14	A	G	19: 11,281,979 (GRCm39)	F193S	possibly damaging	Het
Myo18a	A	T	11: 77,736,227 (GRCm39)	D1508V	probably damaging	Het
Nek4	T	A	14: 30,685,908 (GRCm39)	N273K	probably benign	Het
Nipal3	A	T	4: 135,179,709 (GRCm39)	V403D	possibly damaging	Het
Nlrp6	G	A	7: 140,503,168 (GRCm39)	V425M	probably damaging	Het
Or13p4	A	T	4: 118,547,406 (GRCm39)	V81E	possibly damaging	Het
Or14j6	A	G	17: 38,215,250 (GRCm39)	D271G	probably damaging	Het
Or4c122	T	A	2: 89,079,652 (GRCm39)	M117L	possibly damaging	Het
Or9k2	T	C	10: 129,998,916 (GRCm39)	K93R	probably benign	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pcnx2	T	C	8: 126,495,040 (GRCm39)	D1607G	probably damaging	Het
Pde2a	A	G	7: 101,071,178 (GRCm39)	Y16C	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prph2	A	T	17: 47,230,892 (GRCm39)	M262L	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rnf10	A	C	5: 115,389,438 (GRCm39)	I243S	probably damaging	Het
Samd9l	T	C	6: 3,375,549 (GRCm39)	I571V	probably damaging	Het
Scube1	C	T	15: 83,543,289 (GRCm39)	G183D	probably damaging	Het
Sidt2	A	G	9: 45,857,028 (GRCm39)	V426A	probably benign	Het
Slc20a1	T	C	2: 129,051,041 (GRCm39)	L566P	probably damaging	Het
Slc22a3	A	G	17: 12,642,619 (GRCm39)		probably null	Het
Snx11	G	T	11: 96,661,500 (GRCm39)	S168R	probably benign	Het
Snx5	T	C	2: 144,097,482 (GRCm39)	N218D	probably benign	Het
Snx7	A	T	3: 117,632,583 (GRCm39)	D169E	probably benign	Het
Soat1	A	G	1: 156,274,180 (GRCm39)	L77P	probably damaging	Het
Sucnr1	T	A	3: 59,994,162 (GRCm39)	V230E	probably damaging	Het
Supv3l1	T	C	10: 62,265,282 (GRCm39)	K753E	probably benign	Het
Tango6	T	G	8: 107,468,990 (GRCm39)	L829V	possibly damaging	Het
Tek	T	C	4: 94,715,907 (GRCm39)	V443A	probably benign	Het
Tet1	A	T	10: 62,714,859 (GRCm39)	L312Q	probably damaging	Het
Tgm1	A	T	14: 55,947,991 (GRCm39)	N269K	probably damaging	Het
Thrb	A	T	14: 18,008,645 (GRCm38)	D168V	probably damaging	Het
Tk2	C	T	8: 104,957,804 (GRCm39)	V181I	probably benign	Het
Tm6sf2	T	C	8: 70,526,972 (GRCm39)	L47P	probably damaging	Het
Tmcc3	T	A	10: 94,415,078 (GRCm39)	M291K	probably benign	Het
Tnfrsf21	A	G	17: 43,350,790 (GRCm39)	E318G	probably benign	Het
Ttc7	T	C	17: 87,641,756 (GRCm39)	V451A	probably benign	Het
Ugt2b36	A	T	5: 87,240,252 (GRCm39)	D44E	probably benign	Het
Usp17la	G	T	7: 104,510,138 (GRCm39)	V248L	probably damaging	Het
Utp20	A	C	10: 88,588,810 (GRCm39)	I2453S	probably benign	Het
Wdr91	A	T	6: 34,863,817 (GRCm39)	I566N	possibly damaging	Het
Zfp282	A	G	6: 47,867,652 (GRCm39)	D276G	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp866	T	C	8: 70,218,628 (GRCm39)	K331E	probably benign	Het
Zkscan17	A	T	11: 59,394,410 (GRCm39)	W64R	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
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
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'- GCAATTTAAAGAATAAGATGCACATGG -3'
(R):5'- CAGGGTTTCAGTTGAACTCAGT -3'

Sequencing Primer
(F):5'- GGACACACAGTCTTGCTTTACATGTG -3'
(R):5'- TTCACCTTTTACATAGGCAG -3'

Posted On

2020-06-30