Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Atp9a'

403464

Institutional Source

Beutler Lab

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

Class II, IIa

MMRRC Submission

042789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5216 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

168634438-168742409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 168674888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 362 (I362V)

Ref Sequence

ENSEMBL: ENSMUSP00000136793 (fasta)

Gene Model

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

AlphaFold

O70228

Predicted Effect

probably benign
Transcript: ENSMUST00000029060
AA Change: I362V

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: I362V

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: I346V

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: I346V

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: I420V

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: I420V

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: I344V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: I344V

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

noncoding transcript
Transcript: ENSMUST00000147757

Predicted Effect

probably benign
Transcript: ENSMUST00000178504
AA Change: I362V

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: I362V

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

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,061,162	V84D	probably damaging	Het
Abcb1b	T	C	5: 8,813,705	V220A	probably benign	Het
Actg1	A	T	11: 120,347,754	M82K	probably damaging	Het
Ahi1	T	C	10: 20,960,076	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,401,842	T507A	probably benign	Het
Atg7	A	G	6: 114,724,949	D682G	probably damaging	Het
Atp13a3	A	G	16: 30,340,284	I783T	probably damaging	Het
BC067074	G	A	13: 113,342,413	C1497Y	probably benign	Het
Birc6	T	A	17: 74,613,470	I168K	probably damaging	Het
Brca2	T	A	5: 150,542,980	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,738,873	I199T	probably damaging	Het
Cacng5	A	G	11: 107,877,489	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,315,310	E481K	possibly damaging	Het
Ctr9	T	A	7: 111,045,458	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,211,986	R1451C	probably damaging	Het
Fat3	T	C	9: 16,377,537	D230G	probably damaging	Het
Gramd4	G	A	15: 86,134,785		probably null	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Hoxd1	A	T	2: 74,764,351	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,439,441	S623P	probably benign	Het
Klhl20	A	G	1: 161,093,679		probably null	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,242,760	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Mgll	T	A	6: 88,766,329	C110*	probably null	Het
Mmp14	A	G	14: 54,437,663	N251D	possibly damaging	Het
Olfr393	A	T	11: 73,847,436	S230T	probably damaging	Het
Olfr552	A	G	7: 102,604,821	T156A	probably benign	Het
Olfr857	T	A	9: 19,713,289	V154E	probably benign	Het
Pfkl	T	G	10: 78,009,670	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,272,976	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,495,647	Y417*	probably null	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Sulf1	T	A	1: 12,796,874	M94K	probably benign	Het
Synrg	A	G	11: 83,982,196	T157A	probably damaging	Het
Syt1	T	C	10: 108,642,257	N102S	probably benign	Het
Tnip2	C	T	5: 34,503,805	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,252,184	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,447,163	D57G	probably benign	Het
Wnt2b	A	G	3: 104,961,345	L43P	possibly damaging	Het
Zfp113	C	T	5: 138,150,715	D56N	probably damaging	Het
Zfp184	C	T	13: 21,950,236	L69F	probably damaging	Het
Zyx	T	C	6: 42,356,532	V464A	probably damaging	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
R5191:Atp9a	UTSW	2	168662063	missense	possibly damaging	0.51
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
R7827:Atp9a	UTSW	2	168705194	missense	probably benign	0.03
R7833:Atp9a	UTSW	2	168674857	missense	probably benign	0.02
R7854:Atp9a	UTSW	2	168648603	missense	probably benign	0.02
R7963:Atp9a	UTSW	2	168674812	missense	probably damaging	1.00
R8331:Atp9a	UTSW	2	168675297	missense	probably benign	0.01
R8904:Atp9a	UTSW	2	168705177	missense	probably benign	0.05
R8914:Atp9a	UTSW	2	168637500	critical splice donor site	probably null
R9129:Atp9a	UTSW	2	168675285	missense	probably benign	0.00
R9149:Atp9a	UTSW	2	168734068	intron	probably benign
R9171:Atp9a	UTSW	2	168643860	critical splice donor site	probably null
R9189:Atp9a	UTSW	2	168676140	critical splice donor site	probably null
R9299:Atp9a	UTSW	2	168712746	start codon destroyed	probably null
R9303:Atp9a	UTSW	2	168675243	missense	probably benign	0.13
R9305:Atp9a	UTSW	2	168675243	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TTCCTCTTGGTGCACTAGGG -3'
(R):5'- GAAAAGCTTCCACACGGCTG -3'

Sequencing Primer
(F):5'- GGAGAAAGACAGCTGCCACAC -3'
(R):5'- CACGGCTGTGTGGCAGG -3'

Posted On

2016-07-22