Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03310:Atp9a'

416528

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 #

IGL03310

Quality Score

Status

Chromosome

Chromosomal Location

168476358-168584290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168481879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 872 (F872L)

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: F890L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: F890L

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

possibly damaging
Transcript: ENSMUST00000109175
AA Change: F874L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: F874L

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: F948L

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: F948L

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: F872L

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

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: F872L

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: F890L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: F890L

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	C	T	9: 70,685,371 (GRCm39)	R749C	probably damaging	Het
Cacna1e	A	C	1: 154,317,997 (GRCm39)	Y1462D	probably damaging	Het
Ccna1	T	C	3: 54,958,041 (GRCm39)	T7A	probably benign	Het
Ces1d	A	G	8: 93,901,816 (GRCm39)		probably benign	Het
Cmtm8	A	T	9: 114,619,794 (GRCm39)	V117D	probably benign	Het
Cnot1	A	G	8: 96,462,308 (GRCm39)		probably benign	Het
Col24a1	A	T	3: 145,019,744 (GRCm39)		probably benign	Het
Crispld1	T	C	1: 17,815,701 (GRCm39)		probably benign	Het
Dnaja2	A	T	8: 86,275,534 (GRCm39)	N140K	probably benign	Het
Fktn	A	T	4: 53,720,120 (GRCm39)	K6*	probably null	Het
Fryl	C	A	5: 73,293,659 (GRCm39)		probably benign	Het
Gm5117	T	A	8: 32,228,836 (GRCm39)		noncoding transcript	Het
Gucy2c	A	C	6: 136,728,044 (GRCm39)	S319R	probably benign	Het
Helz2	G	A	2: 180,873,597 (GRCm39)	A2299V	probably benign	Het
Hivep2	T	C	10: 14,019,411 (GRCm39)	S2061P	probably damaging	Het
Irx4	A	G	13: 73,415,850 (GRCm39)	N213S	possibly damaging	Het
Mark3	A	G	12: 111,614,104 (GRCm39)	T649A	probably benign	Het
Nav3	C	T	10: 109,660,433 (GRCm39)		probably null	Het
Npr1	C	T	3: 90,363,298 (GRCm39)	E861K	probably benign	Het
Or52a5	A	C	7: 103,426,634 (GRCm39)	V306G	probably benign	Het
Or5a3	T	C	19: 12,400,291 (GRCm39)	V206A	probably benign	Het
Pcdhb10	C	T	18: 37,545,374 (GRCm39)	T150I	probably damaging	Het
Sdk2	A	G	11: 113,684,151 (GRCm39)	C2009R	possibly damaging	Het
Trgv7	A	G	13: 19,362,664 (GRCm39)		probably benign	Het
Ttc16	T	C	2: 32,652,409 (GRCm39)		probably benign	Het
Ttc39b	T	A	4: 83,165,896 (GRCm39)	Y230F	probably benign	Het
Ubr1	A	T	2: 120,694,898 (GRCm39)	I1678N	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
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

2016-08-02