Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00484:Atp8b3'

4693

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, 1700056N23Rik, SAPLT

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

80355418-80374958 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 80361998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151571 (fasta)

Gene Model

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

AlphaFold

Q6UQ17

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	A	G	7: 139,455,860 (GRCm39)	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,416,220 (GRCm39)	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,504,328 (GRCm39)	K330R	probably benign	Het
Anln	A	T	9: 22,272,120 (GRCm39)	Y666*	probably null	Het
Atp1a2	A	G	1: 172,103,569 (GRCm39)	W984R	probably damaging	Het
Casc3	A	G	11: 98,714,028 (GRCm39)	E420G	possibly damaging	Het
Cep250	G	A	2: 155,833,249 (GRCm39)	D1724N	probably benign	Het
Dhx15	T	G	5: 52,324,154 (GRCm39)	E379D	probably benign	Het
Dock1	T	A	7: 134,748,260 (GRCm39)		probably benign	Het
Exph5	C	T	9: 53,288,006 (GRCm39)	Q1696*	probably null	Het
Fkbp6	C	A	5: 135,368,802 (GRCm39)	A213S	possibly damaging	Het
Fndc4	A	G	5: 31,450,840 (GRCm39)		probably benign	Het
Gli3	A	T	13: 15,818,977 (GRCm39)	T260S	possibly damaging	Het
Glmp	T	A	3: 88,233,169 (GRCm39)		probably null	Het
H2ac22	G	T	13: 21,971,091 (GRCm39)	R100S	probably benign	Het
Hapstr1	T	C	16: 8,649,175 (GRCm39)		probably benign	Het
Ighv1-19	G	A	12: 114,672,329 (GRCm39)	T97I	probably benign	Het
Kdm6b	T	C	11: 69,297,132 (GRCm39)	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,000,873 (GRCm39)	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,884,188 (GRCm39)	S2999T	probably benign	Het
Lztr1	T	C	16: 17,335,314 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,964,867 (GRCm39)	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,248,128 (GRCm39)	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,638,272 (GRCm39)	V396A	probably benign	Het
Nup205	A	G	6: 35,191,737 (GRCm39)	Q1074R	probably damaging	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Peli1	T	A	11: 21,096,952 (GRCm39)	V114E	probably damaging	Het
Phf20l1	T	G	15: 66,487,482 (GRCm39)		probably benign	Het
Pik3r1	A	C	13: 101,838,255 (GRCm39)	I267S	probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppl	A	G	16: 4,905,816 (GRCm39)	I1493T	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Pramel28	G	A	4: 143,693,184 (GRCm39)		probably benign	Het
Prg3	A	G	2: 84,819,091 (GRCm39)	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220 (GRCm38)	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,001,745 (GRCm39)		probably null	Het
Slc36a2	A	T	11: 55,053,614 (GRCm39)	Y341*	probably null	Het
Snapc3	A	G	4: 83,354,633 (GRCm39)	I215V	probably damaging	Het
Srrm2	T	A	17: 24,037,492 (GRCm39)	S1475T	probably benign	Het
Sycp2	A	T	2: 178,024,141 (GRCm39)	D414E	probably damaging	Het
Tanc1	A	G	2: 59,623,520 (GRCm39)	T468A	probably benign	Het
Tfap2d	A	G	1: 19,213,105 (GRCm39)	T310A	probably benign	Het
Tgfbr2	T	A	9: 115,987,357 (GRCm39)	I51F	probably benign	Het
Trip11	A	T	12: 101,851,570 (GRCm39)	C546*	probably null	Het
Ttbk2	C	T	2: 120,604,367 (GRCm39)	W210*	probably null	Het
Upk1b	T	G	16: 38,600,378 (GRCm39)	N201H	possibly damaging	Het
Uqcc5	T	A	14: 30,810,879 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 188,514,710 (GRCm39)	T3180S	probably benign	Het
Vps13d	T	G	4: 144,853,145 (GRCm39)	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,189,605 (GRCm39)	Y434*	probably null	Het

Other mutations in Atp8b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Atp8b3	APN	10	80,366,821 (GRCm39)	missense	probably damaging	1.00
IGL00904:Atp8b3	APN	10	80,364,598 (GRCm39)	missense	probably damaging	1.00
IGL01326:Atp8b3	APN	10	80,360,210 (GRCm39)	missense	probably damaging	0.98
IGL01368:Atp8b3	APN	10	80,370,063 (GRCm39)	splice site	probably benign
IGL01448:Atp8b3	APN	10	80,356,256 (GRCm39)	missense	probably benign	0.02
IGL01556:Atp8b3	APN	10	80,366,802 (GRCm39)	nonsense	probably null
IGL01754:Atp8b3	APN	10	80,366,795 (GRCm39)	splice site	probably null
IGL01809:Atp8b3	APN	10	80,355,845 (GRCm39)	missense	probably benign	0.02
IGL01895:Atp8b3	APN	10	80,357,662 (GRCm39)	missense	possibly damaging	0.80
IGL02184:Atp8b3	APN	10	80,363,067 (GRCm39)	splice site	probably benign
IGL02224:Atp8b3	APN	10	80,361,810 (GRCm39)	splice site	probably benign
IGL02377:Atp8b3	APN	10	80,356,128 (GRCm39)	missense	probably benign	0.06
IGL02405:Atp8b3	APN	10	80,366,462 (GRCm39)	missense	probably damaging	1.00
IGL03090:Atp8b3	APN	10	80,366,438 (GRCm39)	missense	probably damaging	1.00
IGL03244:Atp8b3	APN	10	80,370,292 (GRCm39)	missense	probably damaging	1.00
PIT4544001:Atp8b3	UTSW	10	80,366,420 (GRCm39)	missense	probably benign	0.14
R0277:Atp8b3	UTSW	10	80,362,743 (GRCm39)	missense	probably benign	0.21
R0908:Atp8b3	UTSW	10	80,355,918 (GRCm39)	missense	probably benign	0.03
R0973:Atp8b3	UTSW	10	80,370,032 (GRCm39)	missense	probably damaging	1.00
R1069:Atp8b3	UTSW	10	80,366,852 (GRCm39)	missense	probably damaging	1.00
R1087:Atp8b3	UTSW	10	80,356,017 (GRCm39)	missense	probably benign	0.00
R1553:Atp8b3	UTSW	10	80,368,376 (GRCm39)	missense	probably damaging	1.00
R1603:Atp8b3	UTSW	10	80,361,619 (GRCm39)	missense	probably benign	0.06
R1606:Atp8b3	UTSW	10	80,368,412 (GRCm39)	missense	probably damaging	1.00
R1707:Atp8b3	UTSW	10	80,357,635 (GRCm39)	splice site	probably null
R1717:Atp8b3	UTSW	10	80,364,631 (GRCm39)	missense	probably damaging	1.00
R1876:Atp8b3	UTSW	10	80,365,912 (GRCm39)	missense	possibly damaging	0.70
R1939:Atp8b3	UTSW	10	80,361,220 (GRCm39)	nonsense	probably null
R2138:Atp8b3	UTSW	10	80,362,939 (GRCm39)	missense	possibly damaging	0.79
R2239:Atp8b3	UTSW	10	80,366,822 (GRCm39)	missense	probably damaging	1.00
R2429:Atp8b3	UTSW	10	80,362,728 (GRCm39)	missense	probably benign	0.02
R2696:Atp8b3	UTSW	10	80,370,017 (GRCm39)	missense	possibly damaging	0.94
R2910:Atp8b3	UTSW	10	80,355,746 (GRCm39)	missense	possibly damaging	0.90
R3424:Atp8b3	UTSW	10	80,372,181 (GRCm39)	missense	probably benign	0.35
R3425:Atp8b3	UTSW	10	80,372,181 (GRCm39)	missense	probably benign	0.35
R3432:Atp8b3	UTSW	10	80,362,014 (GRCm39)	missense	probably benign	0.10
R3841:Atp8b3	UTSW	10	80,365,540 (GRCm39)	missense	possibly damaging	0.95
R4515:Atp8b3	UTSW	10	80,359,681 (GRCm39)	missense	probably benign
R4518:Atp8b3	UTSW	10	80,359,681 (GRCm39)	missense	probably benign
R4519:Atp8b3	UTSW	10	80,359,681 (GRCm39)	missense	probably benign
R4619:Atp8b3	UTSW	10	80,361,858 (GRCm39)	missense	possibly damaging	0.67
R4648:Atp8b3	UTSW	10	80,361,457 (GRCm39)	missense	possibly damaging	0.94
R4709:Atp8b3	UTSW	10	80,372,604 (GRCm39)	splice site	probably null
R4774:Atp8b3	UTSW	10	80,372,156 (GRCm39)	missense	probably damaging	1.00
R4796:Atp8b3	UTSW	10	80,360,188 (GRCm39)	missense	probably damaging	1.00
R5000:Atp8b3	UTSW	10	80,357,676 (GRCm39)	missense	possibly damaging	0.82
R5398:Atp8b3	UTSW	10	80,365,533 (GRCm39)	missense	probably damaging	1.00
R5778:Atp8b3	UTSW	10	80,356,007 (GRCm39)	missense	probably benign
R5990:Atp8b3	UTSW	10	80,361,531 (GRCm39)	missense	possibly damaging	0.65
R6124:Atp8b3	UTSW	10	80,365,515 (GRCm39)	missense	probably damaging	1.00
R6427:Atp8b3	UTSW	10	80,356,157 (GRCm39)	splice site	probably null
R6748:Atp8b3	UTSW	10	80,361,058 (GRCm39)	missense	possibly damaging	0.56
R6756:Atp8b3	UTSW	10	80,361,895 (GRCm39)	missense	possibly damaging	0.76
R7051:Atp8b3	UTSW	10	80,365,552 (GRCm39)	missense	probably damaging	0.99
R7051:Atp8b3	UTSW	10	80,355,858 (GRCm39)	missense	probably benign	0.02
R7052:Atp8b3	UTSW	10	80,355,858 (GRCm39)	missense	probably benign	0.02
R7418:Atp8b3	UTSW	10	80,365,926 (GRCm39)	missense	probably damaging	0.99
R7426:Atp8b3	UTSW	10	80,365,463 (GRCm39)	critical splice donor site	probably null
R7625:Atp8b3	UTSW	10	80,355,980 (GRCm39)	missense	probably benign	0.00
R7673:Atp8b3	UTSW	10	80,360,240 (GRCm39)	missense	probably damaging	0.99
R7921:Atp8b3	UTSW	10	80,366,437 (GRCm39)	missense	probably damaging	1.00
R8077:Atp8b3	UTSW	10	80,366,858 (GRCm39)	missense	possibly damaging	0.95
R8235:Atp8b3	UTSW	10	80,365,650 (GRCm39)	missense	probably damaging	0.96
R8354:Atp8b3	UTSW	10	80,361,633 (GRCm39)	missense	probably benign	0.00
R8454:Atp8b3	UTSW	10	80,361,633 (GRCm39)	missense	probably benign	0.00
R8501:Atp8b3	UTSW	10	80,355,980 (GRCm39)	missense	probably benign
R8712:Atp8b3	UTSW	10	80,365,923 (GRCm39)	missense	possibly damaging	0.52
R8962:Atp8b3	UTSW	10	80,355,896 (GRCm39)	missense	probably benign	0.13
R9129:Atp8b3	UTSW	10	80,368,412 (GRCm39)	missense	probably damaging	1.00
R9333:Atp8b3	UTSW	10	80,360,180 (GRCm39)	missense	probably benign	0.01
R9438:Atp8b3	UTSW	10	80,361,409 (GRCm39)	missense	probably damaging	1.00
R9486:Atp8b3	UTSW	10	80,366,821 (GRCm39)	missense	probably damaging	1.00
R9554:Atp8b3	UTSW	10	80,360,197 (GRCm39)	missense	probably damaging	1.00
R9570:Atp8b3	UTSW	10	80,361,822 (GRCm39)	missense	probably benign	0.05
R9682:Atp8b3	UTSW	10	80,371,230 (GRCm39)	missense	probably damaging	1.00
R9748:Atp8b3	UTSW	10	80,364,407 (GRCm39)	missense	probably damaging	0.96
RF006:Atp8b3	UTSW	10	80,362,070 (GRCm39)	missense	probably benign	0.15
Z1177:Atp8b3	UTSW	10	80,366,911 (GRCm39)	missense	probably benign	0.02

Posted On

2012-04-20