Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Atp9a'

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301648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

Class II, IIa

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

168634438-168742409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168649620 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 675 (M675T)

Ref Sequence

ENSEMBL: ENSMUSP00000136793 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029060
AA Change: M675T

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

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: M675T

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: M659T

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

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: M659T

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: M733T

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

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: M733T

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: M657T

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

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: M657T

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: M675T

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

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: M675T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in Atp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Atp9a	APN	2	168640680	missense	probably benign	0.24
IGL01594:Atp9a	APN	2	168691012	missense	probably damaging	1.00
IGL01911:Atp9a	APN	2	168653561	missense	probably damaging	1.00
IGL02606:Atp9a	APN	2	168652668	missense	probably damaging	1.00
IGL03011:Atp9a	APN	2	168652632	missense	probably damaging	1.00
IGL03294:Atp9a	APN	2	168689305	missense	probably benign	0.04
IGL03310:Atp9a	APN	2	168639959	missense	probably damaging	1.00
R0114:Atp9a	UTSW	2	168710856	nonsense	probably null
R0194:Atp9a	UTSW	2	168643885	missense	probably benign	0.00
R0427:Atp9a	UTSW	2	168640697	critical splice acceptor site	probably null
R0508:Atp9a	UTSW	2	168649526	splice site	probably null
R1611:Atp9a	UTSW	2	168673569	missense	probably damaging	1.00
R2120:Atp9a	UTSW	2	168653537	missense	probably damaging	1.00
R2330:Atp9a	UTSW	2	168639929	missense	probably benign	0.01
R2348:Atp9a	UTSW	2	168710826	splice site	probably benign
R2404:Atp9a	UTSW	2	168675363	critical splice acceptor site	probably null
R2881:Atp9a	UTSW	2	168706214	missense	probably damaging	1.00
R2882:Atp9a	UTSW	2	168706214	missense	probably damaging	1.00
R4029:Atp9a	UTSW	2	168689325	missense	probably damaging	1.00
R4371:Atp9a	UTSW	2	168649615	missense	probably damaging	1.00
R4411:Atp9a	UTSW	2	168661933	missense	probably damaging	1.00
R4446:Atp9a	UTSW	2	168681997	missense	possibly damaging	0.75
R4583:Atp9a	UTSW	2	168689360	splice site	probably null
R4626:Atp9a	UTSW	2	168639943	missense	probably damaging	1.00
R4661:Atp9a	UTSW	2	168637672	missense	possibly damaging	0.52
R4679:Atp9a	UTSW	2	168661964	missense	possibly damaging	0.95
R4738:Atp9a	UTSW	2	168668181	missense	probably benign
R5191:Atp9a	UTSW	2	168662063	missense	possibly damaging	0.51
R5216:Atp9a	UTSW	2	168674888	missense	probably benign	0.38
R5280:Atp9a	UTSW	2	168639988	missense	possibly damaging	0.66
R5509:Atp9a	UTSW	2	168639937	missense	probably damaging	1.00
R5798:Atp9a	UTSW	2	168690964	critical splice donor site	probably null
R5807:Atp9a	UTSW	2	168653534	missense	probably damaging	0.98
R5926:Atp9a	UTSW	2	168706271	missense	probably damaging	1.00
R6046:Atp9a	UTSW	2	168634870	missense	probably benign	0.42
R6244:Atp9a	UTSW	2	168689352	critical splice acceptor site	probably null
R6307:Atp9a	UTSW	2	168668170	missense	probably benign	0.02
R6345:Atp9a	UTSW	2	168676173	missense	probably damaging	0.99
R6442:Atp9a	UTSW	2	168649561	missense	probably benign	0.01
R6459:Atp9a	UTSW	2	168668013	missense	probably damaging	1.00
R6769:Atp9a	UTSW	2	168674900	missense	probably damaging	1.00
R6771:Atp9a	UTSW	2	168674900	missense	probably damaging	1.00
R6841:Atp9a	UTSW	2	168654220	missense	possibly damaging	0.87
R7271:Atp9a	UTSW	2	168734127
R7422:Atp9a	UTSW	2	168648593	missense	probably damaging	1.00
R7490:Atp9a	UTSW	2	168675352	missense	probably benign	0.00
R7827:Atp9a	UTSW	2	168705194	missense	probably benign	0.03
R7833:Atp9a	UTSW	2	168674857	missense	probably benign	0.02
R7854:Atp9a	UTSW	2	168648603	missense	probably benign	0.02
R7963:Atp9a	UTSW	2	168674812	missense	probably damaging	1.00
R8331:Atp9a	UTSW	2	168675297	missense	probably benign	0.01

Posted On

2015-04-16