Mutagenetix > Incidental Mutations

Incidental Mutation 'R5191:Atp9a'

398118

Institutional Source

Beutler Lab

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

Class II, IIa

MMRRC Submission

043263-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168634438-168742409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 168662063 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 494 (V494M)

Ref Sequence

ENSEMBL: ENSMUSP00000104806 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029060
AA Change: V512M

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: V512M

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: V496M

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: V496M

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: V570M

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: V570M

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

possibly damaging
Transcript: ENSMUST00000109177
AA Change: V494M

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: V494M

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: ENSMUST00000147757

Predicted Effect

probably benign
Transcript: ENSMUST00000178504
AA Change: V512M

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: V512M

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

Meta Mutation Damage Score

0.172

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,737,403	I638N	possibly damaging	Het
Acvrl1	A	G	15: 101,137,065	E235G	probably damaging	Het
Adam26b	T	C	8: 43,519,991	D658G	probably damaging	Het
Adamts12	A	G	15: 11,327,757	R1407G	probably benign	Het
Aknad1	T	C	3: 108,751,990	S107P	probably benign	Het
Aknad1	G	A	3: 108,752,551	V294I	probably benign	Het
Arfgef2	A	G	2: 166,876,511	T1407A	probably damaging	Het
Atp5a1	C	T	18: 77,780,229	P318S	probably damaging	Het
Ccdc69	A	T	11: 55,052,893		probably null	Het
Crh	T	C	3: 19,693,929	E183G	probably damaging	Het
Cyp2c40	A	C	19: 39,802,591	N265K	probably damaging	Het
D630003M21Rik	C	T	2: 158,201,035	A862T	probably benign	Het
Dact3	T	G	7: 16,875,450	V9G	probably damaging	Het
Dnah8	A	G	17: 30,746,765	E2357G	probably damaging	Het
Dzip1	C	T	14: 118,911,393	M291I	probably damaging	Het
Etl4	G	T	2: 20,339,999	S38I	probably damaging	Het
Fyb2	G	T	4: 104,995,797	C558F	possibly damaging	Het
Galnt3	T	C	2: 66,093,706	E406G	probably damaging	Het
Golga3	T	A	5: 110,184,307		probably benign	Het
Gpr179	T	A	11: 97,338,149	Q1060L	possibly damaging	Het
Havcr1	A	T	11: 46,756,197	I153F	probably benign	Het
Hnrnpc	A	T	14: 52,077,507	V141E	probably damaging	Het
Kcnj2	C	T	11: 111,072,471	Q230*	probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Limch1	T	C	5: 67,027,561	L631P	probably damaging	Het
Lpin1	T	C	12: 16,580,828	N23S	possibly damaging	Het
Macf1	A	G	4: 123,472,962	S1104P	probably benign	Het
Man2b1	A	G	8: 85,084,459	D73G	probably damaging	Het
Marf1	A	G	16: 14,146,078	F454L	probably damaging	Het
Mcpt4	T	A	14: 56,061,009	I90L	probably benign	Het
Mfsd4b5	T	C	10: 39,970,672	E304G	probably damaging	Het
Mst1r	G	A	9: 107,911,551	R423H	probably damaging	Het
Muc20	G	A	16: 32,794,476	S177L	unknown	Het
Muc5b	A	G	7: 141,858,539	T1741A	unknown	Het
Myo1g	C	T	11: 6,515,105	A447T	probably benign	Het
Nr1h2	C	A	7: 44,550,416	A360S	probably damaging	Het
Nufip1	A	G	14: 76,111,989	K154E	probably damaging	Het
Olfr361	T	G	2: 37,084,978	M257L	probably benign	Het
Olfr441	T	A	6: 43,115,866	N41K	probably damaging	Het
Olfr857	G	A	9: 19,713,334	C169Y	probably damaging	Het
Pecr	A	T	1: 72,274,977		probably null	Het
Pkd2	G	A	5: 104,486,681	R526Q	probably benign	Het
Plec	T	C	15: 76,175,165	E3551G	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sarm1	G	A	11: 78,497,119	Q114*	probably null	Het
Sec31a	T	C	5: 100,405,511	E112G	possibly damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a2	G	T	1: 40,743,893	R439L	probably damaging	Het
Sptb	C	A	12: 76,612,834	E1097D	probably benign	Het
Stk38	A	C	17: 28,974,370	C362G	probably benign	Het
Stmn2	A	T	3: 8,545,575	M40L	probably benign	Het
Sytl2	A	T	7: 90,375,652	T283S	probably damaging	Het
Tcf4	A	G	18: 69,642,883	S48G	probably damaging	Het
Tlr4	A	T	4: 66,841,379	H803L	probably damaging	Het
Ttn	C	T	2: 76,879,088		probably benign	Het
Tyk2	G	T	9: 21,107,497	Q1099K	probably damaging	Het
Usp30	C	T	5: 114,065,694		probably benign	Het
Vmn1r175	A	G	7: 23,809,022	V60A	possibly damaging	Het
Zc3h12d	C	A	10: 7,867,818	P451T	possibly damaging	Het
Zeb2	T	C	2: 45,002,600	S146G	probably benign	Het
Zfp236	T	A	18: 82,621,423	N1233I	probably damaging	Het
Zfp954	A	G	7: 7,116,023	V174A	probably damaging	Het
Zswim1	G	A	2: 164,826,019	S397N	probably benign	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
IGL02639:Atp9a	APN	2	168649620	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
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

Predicted Primers

PCR Primer
(F):5'- AGTATTGAGGCCCCAGCAAG -3'
(R):5'- GTGCAAAGCCTTCCAGAGATAAC -3'

Sequencing Primer
(F):5'- CACACTCAGTGGAAGAGGCC -3'
(R):5'- AGCCTTCCAGAGATAACTGTGTG -3'

Posted On

2016-07-06