Mutagenetix > Incidental Mutation

Incidental Mutation 'R4798:Atp13a3'

369260

Institutional Source

Beutler Lab

Gene Symbol

Atp13a3

Ensembl Gene

ENSMUSG00000022533

Gene Name

ATPase type 13A3

Synonyms

LOC224088, LOC385637, LOC224087

MMRRC Submission

042422-MU

Accession Numbers

Essential gene?

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

Stock #

R4798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30131241-30207674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30160058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 716 (I716F)

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: I716F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: I716F

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: I716F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: I716F

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

Meta Mutation Damage Score

0.1447

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (111/114)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,843 (GRCm39)	W1083R	possibly damaging	Het
Adamts10	T	A	17: 33,747,726 (GRCm39)	L54Q	probably damaging	Het
Ankrd24	A	C	10: 81,479,149 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,618,888 (GRCm39)	S813P	probably benign	Het
Atp6v1c1	T	A	15: 38,689,420 (GRCm39)	W294R	probably damaging	Het
Atrnl1	G	T	19: 58,030,793 (GRCm39)	A1312S	probably benign	Het
Bcl2	A	T	1: 106,640,338 (GRCm39)	H91Q	possibly damaging	Het
Cacna1c	G	A	6: 118,607,263 (GRCm39)	Q1214*	probably null	Het
Cacna1g	C	A	11: 94,324,673 (GRCm39)	G1183W	probably damaging	Het
Capsl	A	T	15: 9,461,828 (GRCm39)	M75L	probably benign	Het
Ccdc122	T	G	14: 77,349,047 (GRCm39)		probably benign	Het
Ccdc57	T	G	11: 120,772,683 (GRCm39)	R645S	possibly damaging	Het
Cdh8	T	A	8: 99,751,558 (GRCm39)	R720*	probably null	Het
Cenpx	T	G	11: 120,602,610 (GRCm39)		probably benign	Het
Clic3	T	C	2: 25,348,194 (GRCm39)	S114P	probably damaging	Het
Cracdl	A	T	1: 37,664,046 (GRCm39)	D617E	probably benign	Het
Crtac1	A	T	19: 42,312,240 (GRCm39)	W158R	possibly damaging	Het
Dennd2b	C	T	7: 109,156,240 (GRCm39)	G170D	probably damaging	Het
Dhrs11	T	A	11: 84,719,626 (GRCm39)	Q33L	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpp9	G	T	17: 56,498,016 (GRCm39)	Q647K	probably damaging	Het
Egf	C	T	3: 129,510,327 (GRCm39)	G64D	probably damaging	Het
Eif2b4	C	T	5: 31,346,864 (GRCm39)		probably benign	Het
Epas1	A	G	17: 87,113,267 (GRCm39)	N151S	probably benign	Het
Fastkd1	A	T	2: 69,521,651 (GRCm39)	I707K	probably benign	Het
Fbln2	A	G	6: 91,246,168 (GRCm39)	T1005A	probably benign	Het
Fgfrl1	T	A	5: 108,851,363 (GRCm39)	Y93*	probably null	Het
Fktn	A	G	4: 53,744,637 (GRCm39)	T306A	probably benign	Het
Gabbr2	T	G	4: 46,991,139 (GRCm39)	Y96S	possibly damaging	Het
Gm16332	A	T	1: 139,819,396 (GRCm39)		noncoding transcript	Het
Gm5145	G	T	17: 20,790,810 (GRCm39)	V63F	probably damaging	Het
Gm9970	G	T	5: 31,398,429 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,787,993 (GRCm39)	T545A	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Herc6	A	T	6: 57,581,151 (GRCm39)	I284F	probably damaging	Het
Hook1	C	G	4: 95,890,794 (GRCm39)	A301G	possibly damaging	Het
Hpcal4	T	A	4: 123,084,491 (GRCm39)	M140K	possibly damaging	Het
Il11ra1	T	C	4: 41,766,096 (GRCm39)		probably benign	Het
Ildr1	A	T	16: 36,542,917 (GRCm39)	H439L	possibly damaging	Het
Itga11	A	G	9: 62,684,009 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,880,252 (GRCm39)	D337E	probably benign	Het
Krt82	C	T	15: 101,458,923 (GRCm39)	R39Q	probably benign	Het
L3mbtl4	T	A	17: 68,666,475 (GRCm39)	M1K	probably null	Het
Lrrc32	T	G	7: 98,148,224 (GRCm39)	F335V	probably damaging	Het
Lurap1l	T	A	4: 80,829,650 (GRCm39)	V20E	probably damaging	Het
Lyar	T	A	5: 38,385,230 (GRCm39)	V90D	possibly damaging	Het
Man2c1	C	T	9: 57,048,469 (GRCm39)	R778*	probably null	Het
Mapk6	A	G	9: 75,295,714 (GRCm39)	F595L	probably benign	Het
Mccc1	A	G	3: 36,039,150 (GRCm39)	I281T	probably damaging	Het
Mep1b	T	C	18: 21,226,311 (GRCm39)	V391A	probably damaging	Het
Mier1	G	A	4: 102,988,195 (GRCm39)	D40N	probably damaging	Het
Mkx	T	C	18: 7,002,432 (GRCm39)	H38R	probably benign	Het
Mroh4	A	G	15: 74,498,028 (GRCm39)	L184P	probably damaging	Het
Muc2	C	A	7: 141,307,877 (GRCm39)	N834K	probably benign	Het
Mycl	A	G	4: 122,894,049 (GRCm39)	D283G	probably damaging	Het
Myh6	T	C	14: 55,190,750 (GRCm39)	N975S	probably damaging	Het
Myl12a	A	G	17: 71,303,297 (GRCm39)		probably benign	Het
Mysm1	T	C	4: 94,853,910 (GRCm39)	T230A	probably benign	Het
Naca	A	G	10: 127,883,672 (GRCm39)	K2099R	probably null	Het
Nbeal1	T	G	1: 60,261,352 (GRCm39)		probably null	Het
Nedd1	A	G	10: 92,534,772 (GRCm39)	V246A	probably benign	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Ninl	G	A	2: 150,801,801 (GRCm39)	R156*	probably null	Het
Obscn	T	A	11: 58,960,685 (GRCm39)	I3418F	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Pappa2	T	C	1: 158,684,949 (GRCm39)	N730S	probably damaging	Het
Pcm1	G	A	8: 41,746,715 (GRCm39)	D1305N	probably damaging	Het
Pcsk4	A	T	10: 80,158,938 (GRCm39)	I485N	probably damaging	Het
Phldb2	T	C	16: 45,646,237 (GRCm39)	R111G	probably damaging	Het
Prdm10	T	C	9: 31,252,569 (GRCm39)	F385S	probably damaging	Het
Prkcsh	C	T	9: 21,923,034 (GRCm39)	P351L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rad51c	T	C	11: 87,286,204 (GRCm39)	D251G	probably damaging	Het
Radil	A	G	5: 142,470,918 (GRCm39)	F1088L	probably benign	Het
Rere	C	A	4: 150,699,624 (GRCm39)		probably benign	Het
Rnf167	T	A	11: 70,540,961 (GRCm39)	C196S	probably benign	Het
Robo2	T	A	16: 74,149,633 (GRCm39)	Y65F	probably damaging	Het
Scarf2	G	A	16: 17,621,371 (GRCm39)	C319Y	probably damaging	Het
Sec24c	A	G	14: 20,743,780 (GRCm39)	D995G	probably damaging	Het
Selenbp1	T	C	3: 94,851,211 (GRCm39)	L369S	probably benign	Het
Sgpl1	A	T	10: 60,959,123 (GRCm39)	I53K	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc1a6	A	T	10: 78,635,952 (GRCm39)	Y339F	probably damaging	Het
Smchd1	G	T	17: 71,667,048 (GRCm39)	Y1781*	probably null	Het
Smg1	T	C	7: 117,779,697 (GRCm39)	S1233G	probably benign	Het
Snap91	A	T	9: 86,665,507 (GRCm39)		probably benign	Het
Snx29	T	A	16: 11,238,600 (GRCm39)	L112Q	probably damaging	Het
Sptbn5	T	C	2: 119,889,622 (GRCm39)		probably benign	Het
Srl	A	T	16: 4,310,222 (GRCm39)	H502Q	possibly damaging	Het
St8sia3	A	G	18: 64,404,820 (GRCm39)	M366V	probably benign	Het
Stk19	A	T	17: 35,041,485 (GRCm39)		probably benign	Het
Syngap1	G	A	17: 27,180,423 (GRCm39)	A611T	probably benign	Het
Tas2r113	A	G	6: 132,870,670 (GRCm39)	T233A	possibly damaging	Het
Tbcc	G	A	17: 47,202,145 (GRCm39)	W177*	probably null	Het
Tcstv3	T	A	13: 120,779,618 (GRCm39)		probably null	Het
Trav13-5	T	A	14: 54,033,408 (GRCm39)	C106S	probably damaging	Het
Trmt61a	G	A	12: 111,645,147 (GRCm39)	V28M	possibly damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Urb1	T	C	16: 90,554,715 (GRCm39)	N1839S	probably benign	Het
Ush2a	T	C	1: 188,475,742 (GRCm39)	L2893P	probably damaging	Het
Usp24	G	A	4: 106,217,359 (GRCm39)	V421M	possibly damaging	Het
Vmn1r43	T	C	6: 89,846,892 (GRCm39)	E198G	probably benign	Het
Vps13d	A	C	4: 144,904,626 (GRCm39)	S130A	probably damaging	Het
Zfp426	T	A	9: 20,382,310 (GRCm39)	I211F	probably benign	Het
Znfx1	T	C	2: 166,880,489 (GRCm39)		probably null	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
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'- GTTGAAATAGTACAACAGGCTCAC -3'
(R):5'- AATTGAACACTGTCCTTTGCCC -3'

Sequencing Primer
(F):5'- GGCTCACAAAGAAACCCTGTCTC -3'
(R):5'- TTACATTTTTGGAAATAGTTGACTGC -3'

Posted On

2016-02-04