Mutagenetix > Incidental Mutation

Incidental Mutation 'R2330:Atp9a'

245827

Institutional Source

Beutler Lab

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

IIa, Class II

MMRRC Submission

040321-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168476358-168584290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168481849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 958 (S958P)

Ref Sequence

ENSEMBL: ENSMUSP00000104805 (fasta)

Gene Model

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

AlphaFold

O70228

Predicted Effect

probably benign
Transcript: ENSMUST00000029060
AA Change: S900P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: S900P

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: S884P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: S884P

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: S958P

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

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: S958P

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: S882P

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

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: S882P

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: S900P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: S900P

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

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Clasp2	T	C	9: 113,705,372 (GRCm39)	V594A	probably damaging	Het
Col12a1	A	G	9: 79,540,939 (GRCm39)	I2396T	probably damaging	Het
Col1a2	T	A	6: 4,528,300 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dnaja3	T	A	16: 4,507,880 (GRCm39)	D127E	probably benign	Het
Etnppl	T	C	3: 130,424,224 (GRCm39)	L332P	probably damaging	Het
Gm4559	A	T	7: 141,827,833 (GRCm39)	C90S	unknown	Het
Gramd1c	T	C	16: 43,803,566 (GRCm39)	N616D	probably benign	Het
Hmcn1	A	G	1: 150,528,429 (GRCm39)		probably benign	Het
Hydin	C	A	8: 111,291,641 (GRCm39)	Q3378K	probably benign	Het
Lin7b	A	G	7: 45,019,337 (GRCm39)		probably null	Het
Mex3c	G	A	18: 73,706,799 (GRCm39)	V229I	probably damaging	Het
Micall2	C	G	5: 139,703,270 (GRCm39)	G189R	probably damaging	Het
Ncam2	A	G	16: 81,309,809 (GRCm39)	H433R	probably benign	Het
Or2t45	A	T	11: 58,669,825 (GRCm39)	S291C	probably damaging	Het
Or4c12	T	C	2: 89,774,297 (GRCm39)	N54S	probably benign	Het
Or6c5	C	T	10: 129,074,908 (GRCm39)	Q297*	probably null	Het
Pml	A	T	9: 58,141,854 (GRCm39)	V326E	probably damaging	Het
Prl2c5	T	A	13: 13,366,378 (GRCm39)	M219K	possibly damaging	Het
Rfc1	A	T	5: 65,470,312 (GRCm39)	I65N	possibly damaging	Het
Rsbn1	T	C	3: 103,821,816 (GRCm39)	L17P	probably damaging	Het
Serpina3m	A	G	12: 104,357,963 (GRCm39)	K296E	possibly damaging	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Spag6l	T	C	16: 16,646,949 (GRCm39)	Q19R	probably benign	Het
Tgm6	A	C	2: 129,985,162 (GRCm39)	D344A	probably damaging	Het
Zfp7	T	C	15: 76,775,509 (GRCm39)	I517T	probably damaging	Het
Zfp831	T	A	2: 174,489,882 (GRCm39)	Y1216*	probably null	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
R2120:Atp9a	UTSW	2	168,495,457 (GRCm39)	missense	probably damaging	1.00
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'- TCAGAAACACACGCTGTTGGC -3'
(R):5'- TCTAGTGCTAAGACCTGGGC -3'

Sequencing Primer
(F):5'- ACACGCTGTTGGCAGTCTG -3'
(R):5'- CTAAGACCTGGGCGTGGTG -3'

Posted On

2014-10-30