Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Atp9a'

343790

Institutional Source

Beutler Lab

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

Class II, IIa

MMRRC Submission

041804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4583 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

168634438-168742409 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 168689360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029060] [ENSMUST00000109175] [ENSMUST00000109176] [ENSMUST00000109177] [ENSMUST00000151610] [ENSMUST00000156397] [ENSMUST00000178504] [ENSMUST00000178504]

AlphaFold

O70228

Predicted Effect

probably null
Transcript: ENSMUST00000029060

SMART Domains

Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546

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 null
Transcript: ENSMUST00000109175

SMART Domains

Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546

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 null
Transcript: ENSMUST00000109176

SMART Domains

Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546

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 null
Transcript: ENSMUST00000109177

SMART Domains

Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546

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

probably benign
Transcript: ENSMUST00000151610

SMART Domains

Protein: ENSMUSP00000121364
Gene: ENSMUSG00000027546

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156397

SMART Domains

Protein: ENSMUSP00000119732
Gene: ENSMUSG00000027546

Domain	Start	End	E-Value	Type
SCOP:d1eula_	83	189	6e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000178504

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546

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 null
Transcript: ENSMUST00000178504

SMART Domains

Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546

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: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,574,592 (GRCm38)	L86P	unknown	Het
Aimp1	C	T	3: 132,677,047 (GRCm38)	E23K	probably damaging	Het
Ap2b1	A	T	11: 83,397,779 (GRCm38)	N884I	probably benign	Het
Apoe	G	T	7: 19,697,498 (GRCm38)	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,912,571 (GRCm38)	D93E	probably benign	Het
Arhgef12	G	T	9: 42,977,662 (GRCm38)	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,317,664 (GRCm38)		probably null	Het
Baz1a	T	C	12: 54,922,540 (GRCm38)	I635V	probably damaging	Het
Bbs10	A	G	10: 111,301,134 (GRCm38)	K703E	probably benign	Het
Cckar	T	A	5: 53,699,782 (GRCm38)	M429L	probably benign	Het
Ccl3	A	T	11: 83,648,338 (GRCm38)	L65Q	probably benign	Het
Ccr3	A	G	9: 124,029,440 (GRCm38)	T271A	probably benign	Het
Cd8b1	T	A	6: 71,326,097 (GRCm38)	I52N	probably damaging	Het
Cdh15	G	A	8: 122,865,028 (GRCm38)	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466 (GRCm38)	K719R	probably benign	Het
Cfap43	T	C	19: 47,837,216 (GRCm38)	R38G	probably null	Het
Chd6	T	C	2: 161,014,194 (GRCm38)	E715G	probably damaging	Het
Cldn34b2	T	A	X: 155,125,629 (GRCm38)	R68*	probably null	Het
Col19a1	T	G	1: 24,561,329 (GRCm38)	D44A	unknown	Het
Colgalt2	C	T	1: 152,506,876 (GRCm38)	S493F	probably damaging	Het
Cr1l	T	C	1: 195,129,831 (GRCm38)	I99M	probably damaging	Het
Crybg1	T	C	10: 43,997,620 (GRCm38)	E1164G	probably damaging	Het
Cym	G	T	3: 107,211,402 (GRCm38)	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,522,842 (GRCm38)	T263K	probably damaging	Het
Dhx9	T	A	1: 153,460,303 (GRCm38)	M869L	probably damaging	Het
Dnm2	A	G	9: 21,504,446 (GRCm38)	H692R	probably damaging	Het
Ern1	A	T	11: 106,407,205 (GRCm38)	S697T	probably damaging	Het
F12	G	A	13: 55,421,130 (GRCm38)	T273I	probably benign	Het
Fam151b	A	T	13: 92,468,109 (GRCm38)	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991 (GRCm38)	V622A	probably benign	Het
Fbxo2	T	A	4: 148,164,899 (GRCm38)	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,367,078 (GRCm38)	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,707,549 (GRCm38)	D178E	probably benign	Het
Filip1	G	T	9: 79,815,809 (GRCm38)	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,739,249 (GRCm38)	Y1722C	probably damaging	Het
Frem3	T	C	8: 80,613,514 (GRCm38)	V812A	probably benign	Het
Fsip2	A	G	2: 82,978,673 (GRCm38)	I1779V	probably benign	Het
Gli2	C	T	1: 118,842,068 (GRCm38)	V585I	probably benign	Het
Gm15056	C	G	8: 20,900,681 (GRCm38)	S80T	probably benign	Het
Gm4951	T	C	18: 60,246,080 (GRCm38)	I229T	possibly damaging	Het
Gm5145	A	G	17: 20,570,453 (GRCm38)	E31G	probably benign	Het
Gmfg	A	G	7: 28,445,944 (GRCm38)	Y71C	probably damaging	Het
Grk1	A	G	8: 13,409,322 (GRCm38)	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,715,951 (GRCm38)	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,145 (GRCm38)	D2G	probably damaging	Het
Hc	A	T	2: 35,028,177 (GRCm38)	V698E	probably benign	Het
Helz	G	A	11: 107,646,069 (GRCm38)	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,413,265 (GRCm38)	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,663,606 (GRCm38)	R286G	probably benign	Het
Hus1b	A	T	13: 30,947,518 (GRCm38)	W53R	probably damaging	Het
Hydin	C	T	8: 110,595,225 (GRCm38)	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,265,324 (GRCm38)	P699A	probably benign	Het
Igkv1-122	A	T	6: 68,017,458 (GRCm38)	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,143,620 (GRCm38)	Y113C	probably damaging	Het
Il16	A	G	7: 83,682,899 (GRCm38)	S158P	probably damaging	Het
Kalrn	T	A	16: 34,235,267 (GRCm38)	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134 (GRCm38)	L357H	probably damaging	Het
Krt78	T	C	15: 101,946,620 (GRCm38)	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,684,906 (GRCm38)	C594R	probably damaging	Het
Lcorl	A	T	5: 45,733,589 (GRCm38)	L474*	probably null	Het
Lgals3	A	T	14: 47,381,687 (GRCm38)		probably null	Het
Lnx1	C	T	5: 74,610,796 (GRCm38)	V350I	probably benign	Het
Lpcat3	T	G	6: 124,703,323 (GRCm38)	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,541,372 (GRCm38)	T4149A	probably benign	Het
Memo1	G	A	17: 74,258,461 (GRCm38)	Q36*	probably null	Het
Micalcl	A	G	7: 112,412,947 (GRCm38)	N668S	probably benign	Het
Ms4a10	A	T	19: 10,968,189 (GRCm38)	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,051,872 (GRCm38)	L362V	possibly damaging	Het
Myh3	T	A	11: 67,096,453 (GRCm38)	Y1376*	probably null	Het
Mymk	C	A	2: 27,062,280 (GRCm38)	V192F	probably benign	Het
Myo1c	A	G	11: 75,671,862 (GRCm38)	D966G	possibly damaging	Het
Ncam2	A	G	16: 81,517,557 (GRCm38)	N474D	probably damaging	Het
Nmnat1	T	C	4: 149,469,151 (GRCm38)	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,386,645 (GRCm38)	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522 (GRCm38)		probably null	Het
Nsd3	T	A	8: 25,710,676 (GRCm38)	M1265K	probably benign	Het
Olfr1206	G	T	2: 88,865,494 (GRCm38)	M296I	probably benign	Het
Olfr1212	T	A	2: 88,959,212 (GRCm38)	F249I	probably damaging	Het
Olfr1462	T	A	19: 13,190,698 (GRCm38)	F10L	probably damaging	Het
Olfr152	T	C	2: 87,783,221 (GRCm38)	V227A	possibly damaging	Het
Olfr155	A	G	4: 43,855,262 (GRCm38)	T318A	probably benign	Het
Olfr345	A	C	2: 36,640,614 (GRCm38)	T192P	probably damaging	Het
Olfr394	T	C	11: 73,887,803 (GRCm38)	T190A	probably damaging	Het
Olfr812	T	C	10: 129,842,475 (GRCm38)	D189G	probably damaging	Het
Otub1	G	A	19: 7,204,436 (GRCm38)	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,108,210 (GRCm38)	R102*	probably null	Het
Patl2	A	G	2: 122,126,745 (GRCm38)	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,475,575 (GRCm38)	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,141,528 (GRCm38)	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,196,502 (GRCm38)	D447G	probably damaging	Het
Pold1	C	A	7: 44,538,913 (GRCm38)	A514S	probably damaging	Het
Pomgnt1	C	T	4: 116,158,494 (GRCm38)	T552I	probably benign	Het
Ppl	T	C	16: 5,104,536 (GRCm38)	E294G	probably benign	Het
Pramef8	A	G	4: 143,416,754 (GRCm38)	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,457,224 (GRCm38)	S100G	probably benign	Het
Psg16	T	G	7: 17,095,172 (GRCm38)	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 123,001,952 (GRCm38)		probably benign	Het
Reck	T	C	4: 43,931,062 (GRCm38)		probably null	Het
Rrbp1	C	T	2: 143,988,751 (GRCm38)	G499S	probably benign	Het
Sema6d	G	T	2: 124,664,162 (GRCm38)	R630L	probably damaging	Het
Slc29a1	A	G	17: 45,589,956 (GRCm38)	V94A	possibly damaging	Het
Slc35a1	T	A	4: 34,664,146 (GRCm38)	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,458,921 (GRCm38)	L80Q	probably damaging	Het
Slc7a10	G	T	7: 35,197,952 (GRCm38)		probably null	Het
Srrm2	C	T	17: 23,819,619 (GRCm38)		probably benign	Het
Stk38	T	G	17: 28,982,156 (GRCm38)	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,685,435 (GRCm38)	G104S	probably benign	Het
Tmem121b	T	C	6: 120,492,094 (GRCm38)	E554G	probably damaging	Het
Tor1aip2	A	G	1: 156,065,142 (GRCm38)	H398R	probably benign	Het
Tram2	C	T	1: 21,013,449 (GRCm38)	V83I	probably benign	Het
Ube3a	C	T	7: 59,286,063 (GRCm38)	T565I	probably damaging	Het
Ubr4	T	C	4: 139,380,853 (GRCm38)	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,349,719 (GRCm38)	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,606,662 (GRCm38)	T163I	probably benign	Het
Vmn2r75	T	A	7: 86,164,082 (GRCm38)	D504V	possibly damaging	Het
Vps36	G	A	8: 22,218,420 (GRCm38)	M363I	probably benign	Het
Wdsub1	A	G	2: 59,878,317 (GRCm38)	S71P	probably damaging	Het
Zdhhc12	A	G	2: 30,091,484 (GRCm38)	F189L	probably benign	Het
Zfp521	T	C	18: 13,844,330 (GRCm38)	M1009V	probably benign	Het

Other mutations in Atp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Atp9a	APN	2	168,640,680 (GRCm38)	missense	probably benign	0.24
IGL01594:Atp9a	APN	2	168,691,012 (GRCm38)	missense	probably damaging	1.00
IGL01911:Atp9a	APN	2	168,653,561 (GRCm38)	missense	probably damaging	1.00
IGL02606:Atp9a	APN	2	168,652,668 (GRCm38)	missense	probably damaging	1.00
IGL02639:Atp9a	APN	2	168,649,620 (GRCm38)	missense	probably damaging	1.00
IGL03011:Atp9a	APN	2	168,652,632 (GRCm38)	missense	probably damaging	1.00
IGL03294:Atp9a	APN	2	168,689,305 (GRCm38)	missense	probably benign	0.04
IGL03310:Atp9a	APN	2	168,639,959 (GRCm38)	missense	probably damaging	1.00
R0114:Atp9a	UTSW	2	168,710,856 (GRCm38)	nonsense	probably null
R0194:Atp9a	UTSW	2	168,643,885 (GRCm38)	missense	probably benign	0.00
R0427:Atp9a	UTSW	2	168,640,697 (GRCm38)	critical splice acceptor site	probably null
R0508:Atp9a	UTSW	2	168,649,526 (GRCm38)	splice site	probably null
R1611:Atp9a	UTSW	2	168,673,569 (GRCm38)	missense	probably damaging	1.00
R2120:Atp9a	UTSW	2	168,653,537 (GRCm38)	missense	probably damaging	1.00
R2330:Atp9a	UTSW	2	168,639,929 (GRCm38)	missense	probably benign	0.01
R2348:Atp9a	UTSW	2	168,710,826 (GRCm38)	splice site	probably benign
R2404:Atp9a	UTSW	2	168,675,363 (GRCm38)	critical splice acceptor site	probably null
R2881:Atp9a	UTSW	2	168,706,214 (GRCm38)	missense	probably damaging	1.00
R2882:Atp9a	UTSW	2	168,706,214 (GRCm38)	missense	probably damaging	1.00
R4029:Atp9a	UTSW	2	168,689,325 (GRCm38)	missense	probably damaging	1.00
R4371:Atp9a	UTSW	2	168,649,615 (GRCm38)	missense	probably damaging	1.00
R4411:Atp9a	UTSW	2	168,661,933 (GRCm38)	missense	probably damaging	1.00
R4446:Atp9a	UTSW	2	168,681,997 (GRCm38)	missense	possibly damaging	0.75
R4626:Atp9a	UTSW	2	168,639,943 (GRCm38)	missense	probably damaging	1.00
R4661:Atp9a	UTSW	2	168,637,672 (GRCm38)	missense	possibly damaging	0.52
R4679:Atp9a	UTSW	2	168,661,964 (GRCm38)	missense	possibly damaging	0.95
R4738:Atp9a	UTSW	2	168,668,181 (GRCm38)	missense	probably benign
R5191:Atp9a	UTSW	2	168,662,063 (GRCm38)	missense	possibly damaging	0.51
R5216:Atp9a	UTSW	2	168,674,888 (GRCm38)	missense	probably benign	0.38
R5280:Atp9a	UTSW	2	168,639,988 (GRCm38)	missense	possibly damaging	0.66
R5509:Atp9a	UTSW	2	168,639,937 (GRCm38)	missense	probably damaging	1.00
R5798:Atp9a	UTSW	2	168,690,964 (GRCm38)	critical splice donor site	probably null
R5807:Atp9a	UTSW	2	168,653,534 (GRCm38)	missense	probably damaging	0.98
R5926:Atp9a	UTSW	2	168,706,271 (GRCm38)	missense	probably damaging	1.00
R6046:Atp9a	UTSW	2	168,634,870 (GRCm38)	missense	probably benign	0.42
R6244:Atp9a	UTSW	2	168,689,352 (GRCm38)	critical splice acceptor site	probably null
R6307:Atp9a	UTSW	2	168,668,170 (GRCm38)	missense	probably benign	0.02
R6345:Atp9a	UTSW	2	168,676,173 (GRCm38)	missense	probably damaging	0.99
R6442:Atp9a	UTSW	2	168,649,561 (GRCm38)	missense	probably benign	0.01
R6459:Atp9a	UTSW	2	168,668,013 (GRCm38)	missense	probably damaging	1.00
R6769:Atp9a	UTSW	2	168,674,900 (GRCm38)	missense	probably damaging	1.00
R6771:Atp9a	UTSW	2	168,674,900 (GRCm38)	missense	probably damaging	1.00
R6841:Atp9a	UTSW	2	168,654,220 (GRCm38)	missense	possibly damaging	0.87
R7271:Atp9a	UTSW	2	168,734,127 (GRCm38)
R7422:Atp9a	UTSW	2	168,648,593 (GRCm38)	missense	probably damaging	1.00
R7490:Atp9a	UTSW	2	168,675,352 (GRCm38)	missense	probably benign	0.00
R7827:Atp9a	UTSW	2	168,705,194 (GRCm38)	missense	probably benign	0.03
R7833:Atp9a	UTSW	2	168,674,857 (GRCm38)	missense	probably benign	0.02
R7854:Atp9a	UTSW	2	168,648,603 (GRCm38)	missense	probably benign	0.02
R7963:Atp9a	UTSW	2	168,674,812 (GRCm38)	missense	probably damaging	1.00
R8331:Atp9a	UTSW	2	168,675,297 (GRCm38)	missense	probably benign	0.01
R8904:Atp9a	UTSW	2	168,705,177 (GRCm38)	missense	probably benign	0.05
R8914:Atp9a	UTSW	2	168,637,500 (GRCm38)	critical splice donor site	probably null
R9129:Atp9a	UTSW	2	168,675,285 (GRCm38)	missense	probably benign	0.00
R9149:Atp9a	UTSW	2	168,734,068 (GRCm38)	intron	probably benign
R9171:Atp9a	UTSW	2	168,643,860 (GRCm38)	critical splice donor site	probably null
R9189:Atp9a	UTSW	2	168,676,140 (GRCm38)	critical splice donor site	probably null
R9299:Atp9a	UTSW	2	168,712,746 (GRCm38)	start codon destroyed	probably null
R9303:Atp9a	UTSW	2	168,675,243 (GRCm38)	missense	probably benign	0.13
R9305:Atp9a	UTSW	2	168,675,243 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TTCTACTGACCGAGGCTCATG -3'
(R):5'- AGCCCCAGGGAAAGACATTC -3'

Sequencing Primer
(F):5'- CCCAAACACTTTGAGATGCTCTGG -3'
(R):5'- GAAAGACATTCCTTTTAACAGGTGAC -3'

Posted On

2015-09-24