Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01326:Atp8b3'

74289

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: 0.083) question?

Stock #

IGL01326

Quality Score

Status

Chromosome

Chromosomal Location

80355418-80374958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80360210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 954 (L954M)

Ref Sequence

ENSEMBL: ENSMUSP00000020383 (fasta)

Gene Model

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

AlphaFold

Q6UQ17

Predicted Effect

probably damaging
Transcript: ENSMUST00000020383
AA Change: L954M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: L954M

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	G	A	3: 137,992,672 (GRCm39)	V263M	probably damaging	Het
Akap13	T	A	7: 75,375,096 (GRCm39)	H1909Q	probably benign	Het
Atg2b	C	T	12: 105,588,403 (GRCm39)	A1936T	probably damaging	Het
C8a	T	C	4: 104,713,617 (GRCm39)	Y171C	probably damaging	Het
Cd6	A	G	19: 10,768,466 (GRCm39)	S508P	probably benign	Het
Cdk4	A	G	10: 126,900,492 (GRCm39)	D86G	possibly damaging	Het
Cdr2l	G	T	11: 115,281,796 (GRCm39)	R100S	probably benign	Het
Cndp1	T	A	18: 84,640,357 (GRCm39)	T283S	probably benign	Het
Cr2	T	C	1: 194,823,529 (GRCm39)	Y1023C	probably null	Het
Csmd3	A	G	15: 47,713,181 (GRCm39)	F1494L	probably benign	Het
Eeig2	A	G	3: 108,887,101 (GRCm39)	V299A	possibly damaging	Het
Eng	G	T	2: 32,562,394 (GRCm39)	G231W	probably benign	Het
Erp44	A	G	4: 48,218,126 (GRCm39)	V181A	probably benign	Het
Fkbp15	A	G	4: 62,241,487 (GRCm39)	S553P	probably damaging	Het
Glg1	A	G	8: 111,909,205 (GRCm39)	V495A	probably damaging	Het
Gm9631	A	T	11: 121,836,454 (GRCm39)	D28E	possibly damaging	Het
Gnptab	G	T	10: 88,268,927 (GRCm39)	L543F	probably damaging	Het
H4c3	A	T	13: 23,882,353 (GRCm39)	I27N	probably damaging	Het
Khdrbs2	T	G	1: 32,696,558 (GRCm39)	L329R	possibly damaging	Het
Kidins220	C	A	12: 25,088,498 (GRCm39)	H1080Q	probably damaging	Het
Maml1	G	A	11: 50,156,715 (GRCm39)	P487S	probably benign	Het
Me1	C	T	9: 86,480,771 (GRCm39)		probably null	Het
Morc2a	C	T	11: 3,631,775 (GRCm39)	R569C	probably benign	Het
Mrc1	A	G	2: 14,271,335 (GRCm39)	Q413R	probably damaging	Het
Mrgprx1	A	T	7: 47,671,517 (GRCm39)	C77S	probably benign	Het
Mtarc2	T	C	1: 184,566,048 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,575,147 (GRCm39)		probably benign	Het
Nr4a1	T	G	15: 101,171,940 (GRCm39)	L538R	probably damaging	Het
Olfm1	T	C	2: 28,119,564 (GRCm39)	Y385H	probably damaging	Het
Or4a39	A	T	2: 89,236,675 (GRCm39)	F249L	possibly damaging	Het
Or5m9	A	G	2: 85,877,627 (GRCm39)	E267G	probably damaging	Het
Pkd1	T	A	17: 24,795,148 (GRCm39)	Y2278*	probably null	Het
Plcg2	T	C	8: 118,300,738 (GRCm39)		probably benign	Het
Prkdc	G	T	16: 15,647,556 (GRCm39)	C3660F	probably benign	Het
Ptpn11	T	C	5: 121,281,199 (GRCm39)	D493G	probably damaging	Het
Rad23b	T	A	4: 55,383,601 (GRCm39)	F278I	possibly damaging	Het
Saxo2	T	C	7: 82,297,613 (GRCm39)	I9V	probably benign	Het
Scn7a	T	C	2: 66,582,604 (GRCm39)	I98V	probably benign	Het
Serac1	T	A	17: 6,124,528 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,672,473 (GRCm39)	C274R	probably benign	Het
Sirt3	A	G	7: 140,444,006 (GRCm39)		probably benign	Het
Tctn3	A	G	19: 40,585,880 (GRCm39)	L555P	probably damaging	Het
Ttc14	A	G	3: 33,855,507 (GRCm39)	I151V	probably benign	Het
Ush2a	T	A	1: 187,995,518 (GRCm39)	Y96*	probably null	Het
Usp42	T	C	5: 143,706,970 (GRCm39)	T270A	possibly damaging	Het
Vmn1r31	A	G	6: 58,449,784 (GRCm39)	I27T	probably benign	Het
Vmn2r93	G	A	17: 18,536,906 (GRCm39)	A530T	possibly damaging	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
IGL00484:Atp8b3	APN	10	80,361,998 (GRCm39)	splice site	probably benign
IGL00904:Atp8b3	APN	10	80,364,598 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07