Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Atp9a'

505428

Institutional Source

Beutler Lab

Gene Symbol

Atp9a

Ensembl Gene

ENSMUSG00000027546

Gene Name

ATPase, class II, type 9A

Synonyms

IIa, Class II

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6244 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

168476358-168584290 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 168531272 bp (GRCm39)

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]

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

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	probably benign	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
R2330:Atp9a	UTSW	2	168,481,849 (GRCm39)	missense	probably benign	0.01
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
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'- TCTACTGACCGAGGCTCATG -3'
(R):5'- AGCCCCAGGGAAAGACATTC -3'

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

Posted On

2018-02-28