Mutagenetix > Incidental Mutations

Incidental Mutation 'R4679:Atp9a'

349894

Institutional Source

Beutler Lab

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

Class II, IIa

MMRRC Submission

041932-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4679 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

168634438-168742409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 168661964 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 603 (T603P)

Ref Sequence

ENSEMBL: ENSMUSP00000104805 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029060
AA Change: T545P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: T545P

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: T529P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: T529P

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: T603P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: T603P

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: T527P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: T527P

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

possibly damaging
Transcript: ENSMUST00000178504
AA Change: T545P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: T545P

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

0.7001

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	C	T	4: 35,226,033		probably benign	Het
AA986860	T	A	1: 130,742,403	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,078,804	V450A	probably benign	Het
Abcg1	A	T	17: 31,114,261	R659S	probably benign	Het
Acad9	A	T	3: 36,088,840	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,060,918	C393S	probably damaging	Het
Adcy7	T	C	8: 88,317,937	V486A	probably benign	Het
Adgrf1	G	T	17: 43,310,493	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,078,828	I285T	probably benign	Het
Arhgap27	G	T	11: 103,360,949		probably benign	Het
Armc5	A	T	7: 128,240,104	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955	K742M	probably benign	Het
Bsn	A	G	9: 108,110,130	S2808P	unknown	Het
Catsper4	T	C	4: 134,226,605	N81S	probably damaging	Het
Ccl17	C	G	8: 94,810,500	T10S	probably benign	Het
Cdc123	A	T	2: 5,844,892	V6D	probably damaging	Het
Cdca2	T	C	14: 67,714,966	K14E	possibly damaging	Het
Cdh3	C	A	8: 106,539,856	T302K	probably damaging	Het
Cdh9	A	G	15: 16,850,959	M605V	probably benign	Het
Cdk4	A	G	10: 127,064,911	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,543,271	A879V	probably damaging	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,531	D518G	probably benign	Het
Cog1	C	T	11: 113,652,290	A208V	probably damaging	Het
Col4a2	T	A	8: 11,431,337	H836Q	possibly damaging	Het
Copb1	T	C	7: 114,248,976	D108G	probably damaging	Het
Csmd3	A	T	15: 48,161,083	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,407,833	H164Q	probably benign	Het
Dkc1	A	G	X: 75,100,992	I215V	probably benign	Het
Enpep	A	G	3: 129,303,713		probably null	Het
Fam71b	T	A	11: 46,404,813	M4K	possibly damaging	Het
Fbln7	A	G	2: 128,894,886	Y311C	probably damaging	Het
Fign	A	C	2: 63,979,261	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,671,688		probably benign	Het
Fmn2	T	C	1: 174,503,162	S373P	unknown	Het
Frmd4b	C	T	6: 97,295,666	D868N	possibly damaging	Het
Gfpt2	A	G	11: 49,823,737	N321S	probably benign	Het
Glmn	G	T	5: 107,561,075	T372K	probably damaging	Het
Gm26602	C	T	10: 79,910,974		probably benign	Het
Gm6797	A	G	X: 8,639,694		noncoding transcript	Het
Gpat3	T	A	5: 100,893,456	F383L	probably damaging	Het
Grrp1	A	G	4: 134,251,436	S244P	probably damaging	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,657,015	H268Y	probably benign	Het
Hectd4	G	T	5: 121,325,251	C2345F	possibly damaging	Het
Htt	A	G	5: 34,820,080	D770G	probably benign	Het
Ints3	T	C	3: 90,408,510	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,394,169	F608L	probably benign	Het
Irak1	A	C	X: 74,022,389		probably benign	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Lag3	T	A	6: 124,904,545	Q488L	possibly damaging	Het
Large2	A	T	2: 92,367,558	L266Q	probably benign	Het
Lrp3	T	G	7: 35,203,940	D327A	probably damaging	Het
Mamstr	C	A	7: 45,644,692		probably benign	Het
Mettl14	G	A	3: 123,369,414		probably benign	Het
Miga1	A	G	3: 152,322,475	V139A	probably damaging	Het
Mthfd2l	A	C	5: 90,948,911	R130S	probably benign	Het
Myo1b	A	G	1: 51,757,973	I970T	possibly damaging	Het
Nat10	C	A	2: 103,732,170	W607L	probably damaging	Het
Nop56	A	G	2: 130,278,273	T183A	probably benign	Het
Olfr1258	A	G	2: 89,930,664	Y285C	possibly damaging	Het
Olfr239	A	G	17: 33,199,393	H115R	probably benign	Het
Olfr291	T	A	7: 84,856,904	Y178*	probably null	Het
Olfr464	T	A	11: 87,914,310	M199L	probably benign	Het
Olfr592	A	G	7: 103,187,102	Y167C	probably benign	Het
Olfr710	A	T	7: 106,944,945	S19T	probably benign	Het
Pcdhb12	T	C	18: 37,436,949	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,695,005	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plscr2	T	G	9: 92,287,770	L91R	probably benign	Het
Plxnc1	T	A	10: 94,794,444	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,685,182	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,456,551	E158G	probably damaging	Het
Rasip1	T	A	7: 45,627,823	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,655,924	N166I	probably damaging	Het
Ripor1	T	A	8: 105,617,785	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,824,369	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sept14	T	C	5: 129,693,026	D202G	possibly damaging	Het
Siglec1	A	T	2: 131,073,411	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,161,584	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,182,669	Y927F	probably benign	Het
Spats2	T	G	15: 99,180,722	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,922,462		probably null	Het
T2	A	G	17: 8,391,016	E99G	possibly damaging	Het
Taf3	G	A	2: 10,048,564		probably benign	Het
Tnfsf10	A	T	3: 27,335,579	N263I	probably damaging	Het
Treml2	A	T	17: 48,308,175	R229S	probably benign	Het
Trmt13	T	C	3: 116,589,755	K125E	probably damaging	Het
Ttc9	G	T	12: 81,631,601	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,082,214		noncoding transcript	Het
Zfp932	A	T	5: 110,009,894	H486L	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
R4738:Atp9a	UTSW	2	168668181	missense	probably benign
R5191:Atp9a	UTSW	2	168662063	missense	possibly damaging	0.51
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
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
R7916:Atp9a	UTSW	2	168674857	missense	probably benign	0.02
R7937:Atp9a	UTSW	2	168648603	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGAGCTCATTTTCCTCCTGG -3'
(R):5'- AGATGAGTCCCTTCTGTCCC -3'

Sequencing Primer
(F):5'- TGGGCAGGGACTCACACTC -3'
(R):5'- TCCTTCTTCCGTGTTCATGTG -3'

Posted On

2015-10-08