Mutagenetix > Incidental Mutation

Incidental Mutation 'R2120:Atp9a'

231352

Institutional Source

Beutler Lab

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

IIa, Class II

MMRRC Submission

040124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168476358-168584290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 168495457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 583 (V583E)

Ref Sequence

ENSEMBL: ENSMUSP00000104806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029060] [ENSMUST00000109175] [ENSMUST00000109176] [ENSMUST00000109177] [ENSMUST00000178504]

AlphaFold

O70228

Predicted Effect

probably damaging
Transcript: ENSMUST00000029060
AA Change: V601E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: V601E

Domain	Start	End	E-Value	Type
low complexity region	73	88	N/A	INTRINSIC
Pfam:E1-E2_ATPase	108	368	7.4e-21	PFAM
Pfam:Hydrolase	385	797	1.5e-19	PFAM
Pfam:HAD	388	794	1.1e-14	PFAM
Pfam:Hydrolase_like2	464	579	3.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109175
AA Change: V585E

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

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: V585E

Domain	Start	End	E-Value	Type
low complexity region	57	72	N/A	INTRINSIC
Pfam:E1-E2_ATPase	92	352	7.2e-21	PFAM
Pfam:Hydrolase	369	781	1.4e-19	PFAM
Pfam:HAD	372	778	1.1e-14	PFAM
Pfam:Hydrolase_like2	448	563	3.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109176
AA Change: V659E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: V659E

Domain	Start	End	E-Value	Type
low complexity region	18	57	N/A	INTRINSIC
Pfam:PhoLip_ATPase_N	97	163	1.9e-20	PFAM
Pfam:E1-E2_ATPase	166	418	5.8e-13	PFAM
Pfam:Hydrolase	443	855	2.8e-13	PFAM
Pfam:HAD	446	852	2.4e-14	PFAM
Pfam:Cation_ATPase	522	635	1.5e-6	PFAM
Pfam:PhoLip_ATPase_C	869	1098	1.7e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109177
AA Change: V583E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: V583E

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
Pfam:E1-E2_ATPase	90	350	7.2e-21	PFAM
Pfam:Hydrolase	367	779	1.4e-19	PFAM
Pfam:HAD	370	776	1.1e-14	PFAM
Pfam:Hydrolase_like2	446	561	3.3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178504
AA Change: V601E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: V601E

Domain	Start	End	E-Value	Type
low complexity region	73	88	N/A	INTRINSIC
Pfam:E1-E2_ATPase	108	368	7.4e-21	PFAM
Pfam:Hydrolase	385	797	1.5e-19	PFAM
Pfam:HAD	388	794	1.1e-14	PFAM
Pfam:Hydrolase_like2	464	579	3.4e-7	PFAM

Meta Mutation Damage Score

0.9651

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actrt2	C	T	4: 154,751,551 (GRCm39)	R195Q	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ankrd65	A	G	4: 155,876,530 (GRCm39)	T239A	probably benign	Het
Ano7	G	T	1: 93,329,855 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,409,654 (GRCm39)	E198V	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Bicral	C	T	17: 47,135,741 (GRCm39)	A490T	probably benign	Het
C1rl	C	T	6: 124,485,672 (GRCm39)	P348S	probably damaging	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Cx3cr1	T	A	9: 119,880,749 (GRCm39)	T218S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
E2f4	A	G	8: 106,026,973 (GRCm39)	Y179C	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Endod1	T	C	9: 14,268,949 (GRCm39)	N179D	probably benign	Het
Epc2	C	T	2: 49,437,621 (GRCm39)		probably benign	Het
Ets2	G	T	16: 95,519,977 (GRCm39)	R401L	probably benign	Het
Fgd4	C	T	16: 16,243,692 (GRCm39)	C614Y	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Frem3	A	T	8: 81,342,086 (GRCm39)	T1460S	probably benign	Het
H2-M1	T	G	17: 36,980,929 (GRCm39)	T336P	possibly damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ipo7	G	T	7: 109,648,838 (GRCm39)	D704Y	probably damaging	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Jarid2	G	T	13: 45,059,812 (GRCm39)	M681I	probably benign	Het
Kif4-ps	T	C	12: 101,113,956 (GRCm39)	L695P	probably damaging	Het
Kmt2d	A	G	15: 98,737,410 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,023 (GRCm39)	T205A	probably benign	Het
Lif	T	C	11: 4,219,051 (GRCm39)	V110A	possibly damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Man2b1	A	G	8: 85,819,653 (GRCm39)		probably benign	Het
Med16	A	T	10: 79,738,916 (GRCm39)	M290K	possibly damaging	Het
Mov10l1	C	A	15: 88,891,830 (GRCm39)	Q562K	probably benign	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Mtmr6	T	C	14: 60,534,108 (GRCm39)	F449L	probably damaging	Het
Myt1l	A	T	12: 29,833,618 (GRCm39)		probably null	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or11g27	T	C	14: 50,771,403 (GRCm39)	I178T	probably damaging	Het
Or4k36	A	G	2: 111,145,844 (GRCm39)	T7A	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or8k22	G	A	2: 86,163,689 (GRCm39)	R4C	probably benign	Het
Patj	T	A	4: 98,344,462 (GRCm39)	D591E	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Pitpnm2	G	A	5: 124,265,332 (GRCm39)	P757L	probably damaging	Het
Plcd4	A	G	1: 74,603,584 (GRCm39)	T662A	probably benign	Het
Podn	C	T	4: 107,880,558 (GRCm39)	A31T	probably damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rab3gap2	A	T	1: 184,993,564 (GRCm39)	D782V	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	G	A	5: 22,174,083 (GRCm39)	H2007Y	probably damaging	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Rimbp2	A	G	5: 128,865,582 (GRCm39)	S582P	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sars1	T	C	3: 108,341,472 (GRCm39)	I114V	probably benign	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sec14l1	C	T	11: 117,039,358 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,617 (GRCm39)	E224G	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Srgn	T	A	10: 62,343,413 (GRCm39)		probably benign	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tada3	T	C	6: 113,347,976 (GRCm39)	I263V	possibly damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r115	T	A	6: 132,714,470 (GRCm39)	R160S	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Trp53bp2	A	G	1: 182,269,204 (GRCm39)	M223V	probably benign	Het
Ttc21b	C	T	2: 66,057,098 (GRCm39)	V625I	probably benign	Het
Txnrd1	T	A	10: 82,723,067 (GRCm39)	C421S	possibly damaging	Het
Unc45a	T	C	7: 79,989,846 (GRCm39)	T8A	probably benign	Het
Usp6nl	T	A	2: 6,445,748 (GRCm39)	V552E	probably damaging	Het
Vmn2r115	T	G	17: 23,578,297 (GRCm39)	L590R	probably damaging	Het
Vmn2r88	A	T	14: 51,650,665 (GRCm39)	H126L	probably benign	Het
Vps13c	A	G	9: 67,826,616 (GRCm39)	D1419G	possibly damaging	Het
Vwa3a	A	G	7: 120,391,641 (GRCm39)	T776A	probably benign	Het
Zfp580	T	C	7: 5,056,008 (GRCm39)	Y123H	probably damaging	Het

Other mutations in Atp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Atp9a	APN	2	168,482,600 (GRCm39)	missense	probably benign	0.24
IGL01594:Atp9a	APN	2	168,532,932 (GRCm39)	missense	probably damaging	1.00
IGL01911:Atp9a	APN	2	168,495,481 (GRCm39)	missense	probably damaging	1.00
IGL02606:Atp9a	APN	2	168,494,588 (GRCm39)	missense	probably damaging	1.00
IGL02639:Atp9a	APN	2	168,491,540 (GRCm39)	missense	probably damaging	1.00
IGL03011:Atp9a	APN	2	168,494,552 (GRCm39)	missense	probably damaging	1.00
IGL03294:Atp9a	APN	2	168,531,225 (GRCm39)	missense	probably benign	0.04
IGL03310:Atp9a	APN	2	168,481,879 (GRCm39)	missense	probably damaging	1.00
R0114:Atp9a	UTSW	2	168,552,776 (GRCm39)	nonsense	probably null
R0194:Atp9a	UTSW	2	168,485,805 (GRCm39)	missense	probably benign	0.00
R0427:Atp9a	UTSW	2	168,482,617 (GRCm39)	critical splice acceptor site	probably null
R0508:Atp9a	UTSW	2	168,491,446 (GRCm39)	splice site	probably null
R1611:Atp9a	UTSW	2	168,515,489 (GRCm39)	missense	probably damaging	1.00
R2330:Atp9a	UTSW	2	168,481,849 (GRCm39)	missense	probably benign	0.01
R2348:Atp9a	UTSW	2	168,552,746 (GRCm39)	splice site	probably benign
R2404:Atp9a	UTSW	2	168,517,283 (GRCm39)	critical splice acceptor site	probably null
R2881:Atp9a	UTSW	2	168,548,134 (GRCm39)	missense	probably damaging	1.00
R2882:Atp9a	UTSW	2	168,548,134 (GRCm39)	missense	probably damaging	1.00
R4029:Atp9a	UTSW	2	168,531,245 (GRCm39)	missense	probably damaging	1.00
R4371:Atp9a	UTSW	2	168,491,535 (GRCm39)	missense	probably damaging	1.00
R4411:Atp9a	UTSW	2	168,503,853 (GRCm39)	missense	probably damaging	1.00
R4446:Atp9a	UTSW	2	168,523,917 (GRCm39)	missense	possibly damaging	0.75
R4583:Atp9a	UTSW	2	168,531,280 (GRCm39)	splice site	probably null
R4626:Atp9a	UTSW	2	168,481,863 (GRCm39)	missense	probably damaging	1.00
R4661:Atp9a	UTSW	2	168,479,592 (GRCm39)	missense	possibly damaging	0.52
R4679:Atp9a	UTSW	2	168,503,884 (GRCm39)	missense	possibly damaging	0.95
R4738:Atp9a	UTSW	2	168,510,101 (GRCm39)	missense	probably benign
R5191:Atp9a	UTSW	2	168,503,983 (GRCm39)	missense	possibly damaging	0.51
R5216:Atp9a	UTSW	2	168,516,808 (GRCm39)	missense	probably benign	0.38
R5280:Atp9a	UTSW	2	168,481,908 (GRCm39)	missense	possibly damaging	0.66
R5509:Atp9a	UTSW	2	168,481,857 (GRCm39)	missense	probably damaging	1.00
R5798:Atp9a	UTSW	2	168,532,884 (GRCm39)	critical splice donor site	probably null
R5807:Atp9a	UTSW	2	168,495,454 (GRCm39)	missense	probably damaging	0.98
R5926:Atp9a	UTSW	2	168,548,191 (GRCm39)	missense	probably damaging	1.00
R6046:Atp9a	UTSW	2	168,476,790 (GRCm39)	missense	probably benign	0.42
R6244:Atp9a	UTSW	2	168,531,272 (GRCm39)	critical splice acceptor site	probably null
R6307:Atp9a	UTSW	2	168,510,090 (GRCm39)	missense	probably benign	0.02
R6345:Atp9a	UTSW	2	168,518,093 (GRCm39)	missense	probably damaging	0.99
R6442:Atp9a	UTSW	2	168,491,481 (GRCm39)	missense	probably benign	0.01
R6459:Atp9a	UTSW	2	168,509,933 (GRCm39)	missense	probably damaging	1.00
R6769:Atp9a	UTSW	2	168,516,820 (GRCm39)	missense	probably damaging	1.00
R6771:Atp9a	UTSW	2	168,516,820 (GRCm39)	missense	probably damaging	1.00
R6841:Atp9a	UTSW	2	168,496,140 (GRCm39)	missense	possibly damaging	0.87
R7271:Atp9a	UTSW	2	168,576,047 (GRCm39)
R7422:Atp9a	UTSW	2	168,490,513 (GRCm39)	missense	probably damaging	1.00
R7490:Atp9a	UTSW	2	168,517,272 (GRCm39)	missense	probably benign	0.00
R7827:Atp9a	UTSW	2	168,547,114 (GRCm39)	missense	probably benign	0.03
R7833:Atp9a	UTSW	2	168,516,777 (GRCm39)	missense	probably benign	0.02
R7854:Atp9a	UTSW	2	168,490,523 (GRCm39)	missense	probably benign	0.02
R7963:Atp9a	UTSW	2	168,516,732 (GRCm39)	missense	probably damaging	1.00
R8331:Atp9a	UTSW	2	168,517,217 (GRCm39)	missense	probably benign	0.01
R8904:Atp9a	UTSW	2	168,547,097 (GRCm39)	missense	probably benign	0.05
R8914:Atp9a	UTSW	2	168,479,420 (GRCm39)	critical splice donor site	probably null
R9129:Atp9a	UTSW	2	168,517,205 (GRCm39)	missense	probably benign	0.00
R9149:Atp9a	UTSW	2	168,575,988 (GRCm39)	intron	probably benign
R9171:Atp9a	UTSW	2	168,485,780 (GRCm39)	critical splice donor site	probably null
R9189:Atp9a	UTSW	2	168,518,060 (GRCm39)	critical splice donor site	probably null
R9299:Atp9a	UTSW	2	168,554,666 (GRCm39)	start codon destroyed	probably null
R9303:Atp9a	UTSW	2	168,517,163 (GRCm39)	missense	probably benign	0.13
R9305:Atp9a	UTSW	2	168,517,163 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CAAATGGCATGTGCAAAGGC -3'
(R):5'- TTGGAACATGCTGTGCTGGC -3'

Sequencing Primer
(F):5'- AAAGGCCCCGTGCTAACAGG -3'
(R):5'- TGGCCACAGAAACCCATG -3'

Posted On

2014-09-18