Mutagenetix > Incidental Mutation

Incidental Mutation 'R2429:Atp8b3'

250350

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

040391-MU

Accession Numbers

Essential gene?

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

Stock #

R2429 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80355418-80374958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80362728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 677 (I677L)

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: I677L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: I677L

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
AA Change: I677L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0862

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (34/34)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	A	T	2: 170,421,745 (GRCm39)	M45K	unknown	Het
Abcd3	A	G	3: 121,586,512 (GRCm39)	F63L	probably damaging	Het
Acsm3	A	T	7: 119,367,223 (GRCm39)	M19L	probably benign	Het
Actn4	T	C	7: 28,597,496 (GRCm39)	K41E	probably benign	Het
Auh	C	T	13: 53,073,052 (GRCm39)	G110R	probably damaging	Het
Batf2	A	G	19: 6,221,538 (GRCm39)	Y116C	probably damaging	Het
Cntn6	T	C	6: 104,627,526 (GRCm39)	Y120H	possibly damaging	Het
Gnpat	T	C	8: 125,603,758 (GRCm39)	F212S	probably damaging	Het
Gpd1	A	G	15: 99,618,488 (GRCm39)	M181V	probably benign	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Kif21a	G	A	15: 90,882,208 (GRCm39)	T32M	probably damaging	Het
Macf1	A	G	4: 123,326,377 (GRCm39)	V3477A	probably damaging	Het
Mettl13	A	T	1: 162,373,894 (GRCm39)	L119*	probably null	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Myh8	A	G	11: 67,194,723 (GRCm39)	N1645D	probably benign	Het
Myo6	T	C	9: 80,210,583 (GRCm39)		probably null	Het
Npffr2	A	T	5: 89,731,006 (GRCm39)	Y312F	probably damaging	Het
Pla2r1	C	A	2: 60,345,312 (GRCm39)	C348F	probably damaging	Het
Plcb1	A	G	2: 135,179,362 (GRCm39)	N590S	probably damaging	Het
Prpsap1	G	A	11: 116,363,061 (GRCm39)	T314M	probably damaging	Het
Prss35	T	C	9: 86,637,398 (GRCm39)	V56A	probably benign	Het
Setx	T	C	2: 29,069,910 (GRCm39)	S2572P	probably benign	Het
Sf3b1	T	C	1: 55,055,960 (GRCm39)	D93G	possibly damaging	Het
Slc26a7	C	A	4: 14,506,399 (GRCm39)		probably benign	Het
Slc39a12	T	G	2: 14,409,897 (GRCm39)	S298A	probably benign	Het
Sorl1	G	T	9: 41,948,366 (GRCm39)	D806E	probably damaging	Het
Syt1	T	C	10: 108,526,781 (GRCm39)	K43E	possibly damaging	Het
Trmt1l	T	A	1: 151,309,581 (GRCm39)	L88Q	probably damaging	Het
Zfp334	G	A	2: 165,222,432 (GRCm39)	T537I	probably damaging	Het
Zfp574	T	A	7: 24,779,482 (GRCm39)	L168*	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCCTTCAACGCTGACCTG -3'
(R):5'- CCTGCACCAGGTGTATAATAAGATG -3'

Sequencing Primer
(F):5'- CCTGGAGGTCACTTTAGGATAG -3'
(R):5'- ACCTTGGTACCTGAACCT -3'

Posted On

2014-11-12