Mutagenetix > Incidental Mutation

Incidental Mutation 'R6756:Atp8b3'

531063

Institutional Source

Beutler Lab

Gene Symbol

Atp8b3

Ensembl Gene

ENSMUSG00000003341

Gene Name

ATPase, class I, type 8B, member 3

Synonyms

1700042F02Rik, 1700056N23Rik, SAPLT

MMRRC Submission

044872-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80355418-80374958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80361895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 719 (E719K)

Ref Sequence

ENSEMBL: ENSMUSP00000151571 (fasta)

Gene Model

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

AlphaFold

Q6UQ17

Predicted Effect

probably benign
Transcript: ENSMUST00000020383
AA Change: E719K

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: E719K

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

possibly damaging
Transcript: ENSMUST00000220326
AA Change: E719K

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,298,512 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,762,728 (GRCm39)	T166A	probably benign	Het
Ahnak	G	A	19: 8,984,925 (GRCm39)	V2070M	possibly damaging	Het
Atp6v1a	T	A	16: 43,909,421 (GRCm39)	T537S	probably benign	Het
Clba1	T	C	12: 112,775,820 (GRCm39)	L192P	probably damaging	Het
Dpy19l1	T	C	9: 24,385,080 (GRCm39)	T250A	probably damaging	Het
Fra10ac1	A	C	19: 38,204,313 (GRCm39)	Y88D	probably damaging	Het
Gm21738	C	T	14: 19,418,824 (GRCm38)	V35I	possibly damaging	Het
H2-M9	G	T	17: 36,953,227 (GRCm39)	H27N	probably damaging	Het
Hivep2	T	C	10: 14,008,303 (GRCm39)	C1634R	probably damaging	Het
Meiob	A	T	17: 25,058,506 (GRCm39)	T470S	possibly damaging	Het
Ms4a7	T	C	19: 11,301,889 (GRCm39)	H35R	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nf1	T	A	11: 79,335,413 (GRCm39)		probably null	Het
Npc1l1	T	C	11: 6,165,153 (GRCm39)	Y1053C	probably damaging	Het
Or4p21	T	C	2: 88,277,078 (GRCm39)	D68G	possibly damaging	Het
Or51a25	T	C	7: 102,373,295 (GRCm39)	N134S	probably benign	Het
Pcdh10	T	C	3: 45,334,541 (GRCm39)	V285A	possibly damaging	Het
Phldb2	A	T	16: 45,628,683 (GRCm39)	C550S	probably benign	Het
Phldb3	T	C	7: 24,326,756 (GRCm39)	Y595H	probably damaging	Het
Plekha8	C	T	6: 54,601,125 (GRCm39)	Q288*	probably null	Het
Ppp1r36	G	A	12: 76,474,696 (GRCm39)	A64T	probably benign	Het
Ptprd	T	C	4: 75,873,536 (GRCm39)	T1320A	probably damaging	Het
R3hdm1	GAA	GAAA	1: 128,090,548 (GRCm39)		probably null	Het
Recql4	T	C	15: 76,589,059 (GRCm39)	D943G	probably benign	Het
Slc24a2	A	G	4: 87,094,529 (GRCm39)	I330T	probably benign	Het
Srcin1	T	C	11: 97,425,836 (GRCm39)	D433G	probably damaging	Het
Upb1	A	G	10: 75,264,135 (GRCm39)	T194A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATTCTGGACTAGGGCTC -3'
(R):5'- AGTGAACATCGGCTTTGCG -3'

Sequencing Primer
(F):5'- AGCTGATCCTGGGTGTCAG -3'
(R):5'- CTTTGCGTGCCAGCTGCTG -3'

Posted On

2018-08-01