Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02184:Atp8b3'

284288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp8b3

Ensembl Gene

ENSMUSG00000003341

Gene Name

ATPase, class I, type 8B, member 3

Synonyms

1700042F02Rik, SAPLT, 1700056N23Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02184

Quality Score

Status

Chromosome

Chromosomal Location

80519584-80539124 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 80527233 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000220326]

Predicted Effect

probably benign
Transcript: ENSMUST00000020383

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	20	97	9.3e-29	PFAM
Pfam:E1-E2_ATPase	121	367	2.2e-10	PFAM
Pfam:HAD	404	866	3.7e-17	PFAM
Pfam:Cation_ATPase	481	580	8.3e-12	PFAM
Pfam:PhoLip_ATPase_C	883	1135	4.2e-61	PFAM
low complexity region	1140	1153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220326

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	G	13: 63,068,111	I399S	possibly damaging	Het
Adam15	C	T	3: 89,345,934		probably benign	Het
Antxr2	A	C	5: 97,977,595		probably null	Het
Brwd1	A	T	16: 96,013,829	M1417K	probably damaging	Het
Camk2d	A	T	3: 126,797,773	R297S	probably damaging	Het
Cntnap1	A	T	11: 101,178,365	H215L	probably damaging	Het
Cytip	T	C	2: 58,133,738	S357G	probably damaging	Het
Fancg	A	G	4: 43,006,872	Y273H	possibly damaging	Het
Fbxo36	A	G	1: 84,881,164	S57G	probably benign	Het
Fgf8	A	T	19: 45,737,216	L141Q	probably damaging	Het
Gm5039	T	C	12: 88,321,181	R101G	probably benign	Het
Gm765	T	C	6: 98,248,098	S75G	possibly damaging	Het
Grm5	C	T	7: 88,026,442	T388M	probably damaging	Het
Hipk1	A	G	3: 103,758,750	L589P	possibly damaging	Het
Kiz	T	C	2: 146,889,600	S337P	probably benign	Het
Lrrc37a	A	T	11: 103,497,609	I2330K	unknown	Het
Mdfic	T	A	6: 15,770,367	I124K	possibly damaging	Het
Mttp	A	G	3: 138,116,000		probably null	Het
Myom1	G	A	17: 71,072,137	S632N	possibly damaging	Het
Nlrp12	T	C	7: 3,240,464	K473E	probably damaging	Het
Nrp2	C	A	1: 62,718,940	C28*	probably null	Het
Nwd2	G	T	5: 63,805,677	G868V	probably damaging	Het
Olfr1134	A	G	2: 87,656,792	L43P	probably damaging	Het
Olfr1246	G	A	2: 89,590,293	T274I	probably damaging	Het
Olfr48	G	A	2: 89,844,385	A196V	probably damaging	Het
Pappa	A	T	4: 65,340,691	M1559L	possibly damaging	Het
Pmm2	T	A	16: 8,637,804	D10E	possibly damaging	Het
Polm	T	C	11: 5,830,137	Q300R	probably benign	Het
Prrc2b	T	A	2: 32,221,455	N1208K	probably benign	Het
Serpinb3c	T	C	1: 107,271,918	D291G	probably damaging	Het
Slc1a2	T	C	2: 102,748,544	F268S	probably damaging	Het
Slc26a4	A	G	12: 31,549,949	Y127H	probably damaging	Het
Slc29a4	A	G	5: 142,717,751	Y260C	probably damaging	Het
Sorbs3	C	T	14: 70,184,006		probably null	Het
Spen	T	C	4: 141,487,606	Y534C	unknown	Het
Tmem237	T	C	1: 59,120,111		probably null	Het
Tnfrsf21	A	T	17: 43,085,463	N546I	probably benign	Het
Tpgs2	T	A	18: 25,140,573	D177V	probably damaging	Het
Tpx2	C	T	2: 152,882,320	R339*	probably null	Het
Trim12c	T	C	7: 104,348,223	Y42C	probably benign	Het
Trip10	A	T	17: 57,257,272	E341V	probably damaging	Het
Trpm8	A	T	1: 88,330,694		probably null	Het
Ttc37	A	G	13: 76,111,691	K37E	probably damaging	Het
Ubr1	T	A	2: 120,900,508	I1221F	probably benign	Het
Ucp2	C	T	7: 100,499,322	A301V	probably benign	Het
Zfyve1	T	C	12: 83,558,693	I411V	probably benign	Het

Other mutations in Atp8b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Atp8b3	APN	10	80530987	missense	probably damaging	1.00
IGL00484:Atp8b3	APN	10	80526164	splice site	probably benign
IGL00904:Atp8b3	APN	10	80528764	missense	probably damaging	1.00
IGL01326:Atp8b3	APN	10	80524376	missense	probably damaging	0.98
IGL01368:Atp8b3	APN	10	80534229	splice site	probably benign
IGL01448:Atp8b3	APN	10	80520422	missense	probably benign	0.02
IGL01556:Atp8b3	APN	10	80530968	nonsense	probably null
IGL01754:Atp8b3	APN	10	80530961	splice site	probably null
IGL01809:Atp8b3	APN	10	80520011	missense	probably benign	0.02
IGL01895:Atp8b3	APN	10	80521828	missense	possibly damaging	0.80
IGL02224:Atp8b3	APN	10	80525976	splice site	probably benign
IGL02377:Atp8b3	APN	10	80520294	missense	probably benign	0.06
IGL02405:Atp8b3	APN	10	80530628	missense	probably damaging	1.00
IGL03090:Atp8b3	APN	10	80530604	missense	probably damaging	1.00
IGL03244:Atp8b3	APN	10	80534458	missense	probably damaging	1.00
R0277:Atp8b3	UTSW	10	80526909	missense	probably benign	0.21
R0908:Atp8b3	UTSW	10	80520084	missense	probably benign	0.03
R0973:Atp8b3	UTSW	10	80534198	missense	probably damaging	1.00
R1069:Atp8b3	UTSW	10	80531018	missense	probably damaging	1.00
R1087:Atp8b3	UTSW	10	80520183	missense	probably benign	0.00
R1553:Atp8b3	UTSW	10	80532542	missense	probably damaging	1.00
R1603:Atp8b3	UTSW	10	80525785	missense	probably benign	0.06
R1606:Atp8b3	UTSW	10	80532578	missense	probably damaging	1.00
R1707:Atp8b3	UTSW	10	80521801	unclassified	probably null
R1717:Atp8b3	UTSW	10	80528797	missense	probably damaging	1.00
R1876:Atp8b3	UTSW	10	80530078	missense	possibly damaging	0.70
R1939:Atp8b3	UTSW	10	80525386	nonsense	probably null
R2138:Atp8b3	UTSW	10	80527105	missense	possibly damaging	0.79
R2239:Atp8b3	UTSW	10	80530988	missense	probably damaging	1.00
R2429:Atp8b3	UTSW	10	80526894	missense	probably benign	0.02
R2696:Atp8b3	UTSW	10	80534183	missense	possibly damaging	0.94
R2910:Atp8b3	UTSW	10	80519912	missense	possibly damaging	0.90
R3424:Atp8b3	UTSW	10	80536347	missense	probably benign	0.35
R3425:Atp8b3	UTSW	10	80536347	missense	probably benign	0.35
R3432:Atp8b3	UTSW	10	80526180	missense	probably benign	0.10
R3841:Atp8b3	UTSW	10	80529706	missense	possibly damaging	0.95
R4515:Atp8b3	UTSW	10	80523847	missense	probably benign
R4518:Atp8b3	UTSW	10	80523847	missense	probably benign
R4519:Atp8b3	UTSW	10	80523847	missense	probably benign
R4619:Atp8b3	UTSW	10	80526024	missense	possibly damaging	0.67
R4648:Atp8b3	UTSW	10	80525623	missense	possibly damaging	0.94
R4709:Atp8b3	UTSW	10	80536770	unclassified	probably null
R4774:Atp8b3	UTSW	10	80536322	missense	probably damaging	1.00
R4796:Atp8b3	UTSW	10	80524354	missense	probably damaging	1.00
R5000:Atp8b3	UTSW	10	80521842	missense	possibly damaging	0.82
R5398:Atp8b3	UTSW	10	80529699	missense	probably damaging	1.00
R5778:Atp8b3	UTSW	10	80520173	missense	probably benign
R5990:Atp8b3	UTSW	10	80525697	missense	possibly damaging	0.65
R6124:Atp8b3	UTSW	10	80529681	missense	probably damaging	1.00
R6427:Atp8b3	UTSW	10	80520323	unclassified	probably null
R6748:Atp8b3	UTSW	10	80525224	missense	possibly damaging	0.56
R6756:Atp8b3	UTSW	10	80526061	missense	possibly damaging	0.76

Posted On

2015-04-16