Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01594:Atp9a'

91678

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 #

IGL01594

Quality Score

Status

Chromosome

Chromosomal Location

168476358-168584290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168532932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 134 (V134A)

Ref Sequence

ENSEMBL: ENSMUSP00000104804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029060] [ENSMUST00000109175] [ENSMUST00000109176] [ENSMUST00000109177] [ENSMUST00000151610] [ENSMUST00000156397] [ENSMUST00000178504]

AlphaFold

O70228

Predicted Effect

probably damaging
Transcript: ENSMUST00000029060
AA Change: V150A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: V150A

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: V134A

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

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: V134A

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

possibly damaging
Transcript: ENSMUST00000109176
AA Change: V208A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: V208A

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: V132A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: V132A

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

noncoding transcript
Transcript: ENSMUST00000140188

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151610
AA Change: V54A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121364
Gene: ENSMUSG00000027546
AA Change: V54A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000156397
AA Change: V183A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119732
Gene: ENSMUSG00000027546
AA Change: V183A

Domain	Start	End	E-Value	Type
SCOP:d1eula_	83	189	6e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178504
AA Change: V150A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: V150A

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,996,071 (GRCm39)		probably null	Het
Acss1	A	T	2: 150,463,450 (GRCm39)	V618E	probably damaging	Het
Adgrg6	T	C	10: 14,310,084 (GRCm39)	N774D	probably damaging	Het
Csmd3	T	A	15: 47,492,635 (GRCm39)	T3169S	probably benign	Het
D030068K23Rik	T	A	8: 109,978,009 (GRCm39)	Q52L	unknown	Het
Dnah5	T	C	15: 28,311,480 (GRCm39)	S1820P	possibly damaging	Het
Fem1c	A	C	18: 46,639,343 (GRCm39)	S220A	probably benign	Het
Gm10305	G	A	4: 99,161,414 (GRCm39)	D108N	unknown	Het
Gtdc1	A	G	2: 44,481,891 (GRCm39)		probably null	Het
Il2ra	T	C	2: 11,685,207 (GRCm39)	V181A	possibly damaging	Het
Lrrn1	T	C	6: 107,544,454 (GRCm39)	I84T	probably damaging	Het
Map3k1	T	A	13: 111,894,723 (GRCm39)		probably null	Het
Mical1	T	G	10: 41,356,325 (GRCm39)	Y293D	probably damaging	Het
Mpzl1	T	C	1: 165,421,161 (GRCm39)	D266G	probably damaging	Het
Or55b4	C	A	7: 102,134,254 (GRCm39)	M24I	probably benign	Het
Pabpc4l	A	T	3: 46,401,581 (GRCm39)	V21D	probably damaging	Het
Prdm10	T	C	9: 31,258,149 (GRCm39)	C525R	probably damaging	Het
Ptprj	C	A	2: 90,271,139 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,537,981 (GRCm39)	F4S	probably damaging	Het
Ryr3	G	A	2: 112,603,073 (GRCm39)	T2457I	probably damaging	Het
Scn3a	A	G	2: 65,291,775 (GRCm39)	I1657T	probably damaging	Het
Sema6a	A	G	18: 47,381,884 (GRCm39)	S888P	probably damaging	Het
Slc37a1	T	A	17: 31,538,122 (GRCm39)	Y148*	probably null	Het
Tex10	T	C	4: 48,469,906 (GRCm39)	N53S	possibly damaging	Het
Tyr	A	T	7: 87,133,022 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,751,495 (GRCm39)	S513G	possibly 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
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

2013-12-09