Mutagenetix > Incidental Mutation

Incidental Mutation 'R7673:Atp8b3'

592318

Institutional Source

Beutler Lab

Gene Symbol

Atp8b3

Ensembl Gene

ENSMUSG00000003341

Gene Name

ATPase, class I, type 8B, member 3

Synonyms

1700042F02Rik, SAPLT, 1700056N23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R7673 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80519584-80539124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80524406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 944 (Y944H)

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: Y944H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: Y944H

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: V857A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,882,708	A682S	probably benign	Het
Acad11	A	T	9: 104,063,906		probably null	Het
Ahctf1	A	T	1: 179,762,846	D1287E	probably benign	Het
Aldh9a1	C	A	1: 167,361,550	L360M	probably benign	Het
Ank3	A	T	10: 69,990,501	I1667F		Het
Ccdc30	T	C	4: 119,353,172	D316G	probably damaging	Het
Ccdc50	T	C	16: 27,406,675	I46T	possibly damaging	Het
Cfap74	T	G	4: 155,463,056	I1233S	unknown	Het
Chd9	A	G	8: 91,051,697	M2779V	probably damaging	Het
Cmya5	A	T	13: 93,094,121	D1486E	probably benign	Het
Creb3	T	C	4: 43,563,117	V72A	not run	Het
Cxcl17	C	A	7: 25,402,868	C50F	probably damaging	Het
Dcaf11	C	A	14: 55,569,305	N528K	probably benign	Het
Ddx46	T	C	13: 55,659,159	V535A	probably benign	Het
Det1	A	T	7: 78,843,611	V215D	possibly damaging	Het
Dnaja3	A	G	16: 4,694,464	N244S	probably benign	Het
Dnajc13	G	T	9: 104,233,692	P127T	probably benign	Het
Dnm2	T	A	9: 21,481,421		probably null	Het
Fam117a	G	T	11: 95,371,496	R142L	probably benign	Het
Fpr-rs6	T	C	17: 20,182,737	M121V	probably benign	Het
Gatad1	T	C	5: 3,646,867	T95A	probably benign	Het
Gdap2	A	G	3: 100,191,699	D369G	probably benign	Het
Gm12185	A	T	11: 48,907,628	D679E	probably benign	Het
Gm5519	G	C	19: 33,825,028	G157A	probably benign	Het
Gm960	A	C	19: 4,645,633	D530E	probably damaging	Het
Gmeb2	T	A	2: 181,260,388	H123L	probably benign	Het
Golgb1	C	T	16: 36,913,669	P1134S	probably benign	Het
Gsdmc2	G	T	15: 63,825,083	A413D	probably damaging	Het
Hck	C	T	2: 153,129,085	A89V	possibly damaging	Het
Heatr5b	G	A	17: 78,795,983	T1147M	probably damaging	Het
Hoxb2	A	T	11: 96,353,457	D298V	possibly damaging	Het
Hrc	A	G	7: 45,337,234	E603G	probably benign	Het
Hsd3b5	C	A	3: 98,619,441	A230S	probably damaging	Het
Hsh2d	A	G	8: 72,200,511	S246G	probably benign	Het
Ifna4	A	C	4: 88,842,072	Q71P	possibly damaging	Het
Il4i1	A	G	7: 44,840,362	E517G	probably benign	Het
Kdm6b	A	C	11: 69,405,742	S566R	probably damaging	Het
Lamc2	T	A	1: 153,124,036	Q1192H	probably damaging	Het
Map2	T	C	1: 66,413,774	S608P	probably benign	Het
March9	T	C	10: 127,056,599	E340G	probably damaging	Het
Mcm3	A	G	1: 20,812,014	L442P	probably damaging	Het
Mreg	A	C	1: 72,160,964	M189R	probably benign	Het
Myh4	A	T	11: 67,245,513	R406W	probably damaging	Het
Nol8	A	G	13: 49,664,780	D842G	probably benign	Het
Nrros	T	A	16: 32,162,281	I10F	unknown	Het
Obscn	G	A	11: 59,027,437	P210S		Het
Olfr1085	T	C	2: 86,657,726	H244R	probably damaging	Het
Olfr1312	T	A	2: 112,042,580	M151L	probably benign	Het
Olfr889	A	T	9: 38,116,227	T149S	probably benign	Het
Olfr998	T	C	2: 85,591,062	I174T	possibly damaging	Het
Orai1	A	G	5: 123,029,442	H226R	probably benign	Het
Pcdhb18	G	T	18: 37,491,737	V707L	probably benign	Het
Pex5	A	T	6: 124,399,383	L420Q	probably damaging	Het
Rab8a	A	G	8: 72,161,296		probably benign	Het
Rexo4	G	A	2: 26,958,493	H339Y	probably benign	Het
Rif1	G	A	2: 52,088,654	V369M	probably damaging	Het
Rpgrip1l	A	T	8: 91,300,787	I208K	possibly damaging	Het
Sbno1	G	A	5: 124,413,216	P68L	probably benign	Het
Selenop	G	T	15: 3,274,858	C62F	probably damaging	Het
Slc13a4	A	T	6: 35,276,476	V397D	probably damaging	Het
Slc4a3	T	C	1: 75,557,351	V1114A	probably damaging	Het
Stard3nl	A	T	13: 19,367,753	S214T	probably benign	Het
Stra8	T	A	6: 34,927,918		probably null	Het
Stx8	T	C	11: 67,984,639	F97L	probably benign	Het
Thsd7b	A	G	1: 129,915,750		probably null	Het
Tmem94	T	C	11: 115,788,378	I251T	probably benign	Het
Toporsl	A	T	4: 52,610,679	T191S	probably damaging	Het
Vmn1r53	T	A	6: 90,223,643	E233V	probably damaging	Het
Wdr49	A	T	3: 75,450,907	L177Q	probably damaging	Het
Wnt8b	T	C	19: 44,511,688	L238P	possibly damaging	Het
Xirp2	T	C	2: 67,517,087	V3224A	probably damaging	Het
Zfp583	G	T	7: 6,317,010	N334K	possibly damaging	Het
Zfp60	T	A	7: 27,748,315	I136N	probably benign	Het
Zmynd15	G	T	11: 70,466,040	R722L	unknown	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
IGL02184:Atp8b3	APN	10	80527233	splice site	probably benign
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
PIT4544001:Atp8b3	UTSW	10	80530586	missense	probably benign	0.14
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	splice site	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	splice site	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	splice site	probably null
R6748:Atp8b3	UTSW	10	80525224	missense	possibly damaging	0.56
R6756:Atp8b3	UTSW	10	80526061	missense	possibly damaging	0.76
R7051:Atp8b3	UTSW	10	80520024	missense	probably benign	0.02
R7051:Atp8b3	UTSW	10	80529718	missense	probably damaging	0.99
R7052:Atp8b3	UTSW	10	80520024	missense	probably benign	0.02
R7418:Atp8b3	UTSW	10	80530092	missense	probably damaging	0.99
R7426:Atp8b3	UTSW	10	80529629	critical splice donor site	probably null
R7625:Atp8b3	UTSW	10	80520146	missense	probably benign	0.00
R7921:Atp8b3	UTSW	10	80530603	missense	probably damaging	1.00
R8077:Atp8b3	UTSW	10	80531024	missense	possibly damaging	0.95
R8235:Atp8b3	UTSW	10	80529816	missense	probably damaging	0.96
R8354:Atp8b3	UTSW	10	80525799	missense	probably benign	0.00
R8454:Atp8b3	UTSW	10	80525799	missense	probably benign	0.00
R8501:Atp8b3	UTSW	10	80520146	missense	probably benign
R8712:Atp8b3	UTSW	10	80530089	missense	possibly damaging	0.52
R8962:Atp8b3	UTSW	10	80520062	missense	probably benign	0.13
R9129:Atp8b3	UTSW	10	80532578	missense	probably damaging	1.00
R9333:Atp8b3	UTSW	10	80524346	missense	probably benign	0.01
R9438:Atp8b3	UTSW	10	80525575	missense	probably damaging	1.00
R9486:Atp8b3	UTSW	10	80530987	missense	probably damaging	1.00
R9554:Atp8b3	UTSW	10	80524363	missense	probably damaging	1.00
R9570:Atp8b3	UTSW	10	80525988	missense	probably benign	0.05
R9682:Atp8b3	UTSW	10	80535396	missense	probably damaging	1.00
R9748:Atp8b3	UTSW	10	80528573	missense	probably damaging	0.96
RF006:Atp8b3	UTSW	10	80526236	missense	probably benign	0.15
Z1177:Atp8b3	UTSW	10	80531077	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTGGAGAGATCTGGTTCTCAG -3'
(R):5'- CATGGCATCAGGAGCTCTCTAAG -3'

Sequencing Primer
(F):5'- TTCTCAGAGTGGAGGACCC -3'
(R):5'- AGCTCCTTTAGTCTGAATCAAACCTG -3'

Posted On

2019-11-12