Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00965:Atp9a'

26981

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

IIa, Class II

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00965

Quality Score

Status

Chromosome

Chromosomal Location

168476358-168584290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 168482600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 845 (V845L)

Ref Sequence

ENSEMBL: ENSMUSP00000104806 (fasta)

Gene Model

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

AlphaFold

O70228

Predicted Effect

probably benign
Transcript: ENSMUST00000029060
AA Change: V863L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: V863L

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 benign
Transcript: ENSMUST00000109175
AA Change: V847L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: V847L

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 benign
Transcript: ENSMUST00000109176
AA Change: V921L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: V921L

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 benign
Transcript: ENSMUST00000109177
AA Change: V845L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: V845L

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 benign
Transcript: ENSMUST00000178504
AA Change: V863L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: V863L

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

noncoding transcript
Transcript: ENSMUST00000200215

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	C	T	2: 164,646,735 (GRCm39)	M1I	probably null	Het
Adam33	T	C	2: 130,896,183 (GRCm39)		probably benign	Het
Adgrl1	C	T	8: 84,664,332 (GRCm39)	T1236I	probably damaging	Het
Ago4	A	G	4: 126,387,107 (GRCm39)	V832A	probably benign	Het
Ankrd26	G	T	6: 118,536,319 (GRCm39)	Y91*	probably null	Het
Cfap100	C	T	6: 90,392,787 (GRCm39)	E108K	probably benign	Het
Chrdl2	T	A	7: 99,655,860 (GRCm39)		probably null	Het
Cibar2	T	C	8: 120,893,429 (GRCm39)	Q254R	probably benign	Het
Cilk1	A	G	9: 78,071,821 (GRCm39)	I498V	probably benign	Het
Erbb4	A	T	1: 68,110,789 (GRCm39)	L1008*	probably null	Het
Gm42688	C	T	6: 83,080,373 (GRCm39)		probably benign	Het
H2-Eb2	T	A	17: 34,544,771 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,233,108 (GRCm39)	V219A	probably damaging	Het
Hsf2	C	T	10: 57,388,196 (GRCm39)	P447S	probably damaging	Het
Hsph1	A	T	5: 149,554,269 (GRCm39)	I162N	probably damaging	Het
Il12rb2	T	C	6: 67,337,561 (GRCm39)	T107A	probably damaging	Het
Lnx1	T	A	5: 74,846,378 (GRCm39)	N24I	probably benign	Het
Mgat3	C	A	15: 80,096,634 (GRCm39)	A487D	probably damaging	Het
Or10h5	C	T	17: 33,434,947 (GRCm39)	V124M	probably benign	Het
Or52ae9	T	A	7: 103,390,172 (GRCm39)	I92F	probably benign	Het
Or6b2	T	C	1: 92,407,746 (GRCm39)	D199G	probably damaging	Het
Or6c65	T	A	10: 129,603,455 (GRCm39)	L30Q	probably null	Het
Ppargc1b	A	G	18: 61,456,235 (GRCm39)	Y75H	probably damaging	Het
Rgl2	G	T	17: 34,154,910 (GRCm39)	C638F	probably benign	Het
Rhpn1	C	A	15: 75,583,735 (GRCm39)	R407S	probably damaging	Het
Sipa1l2	A	G	8: 126,174,613 (GRCm39)	S1222P	probably benign	Het
Tango6	T	A	8: 107,468,642 (GRCm39)		probably benign	Het
Tonsl	G	A	15: 76,516,080 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn2r13	A	C	5: 109,303,964 (GRCm39)	F822L	probably damaging	Het

Other mutations in Atp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2120:Atp9a	UTSW	2	168,495,457 (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

Posted On

2013-04-17