Mutagenetix > Incidental Mutation

Incidental Mutation 'R1939:Atp8b3'

213825

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

039957-MU

Accession Numbers

Essential gene?

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

Stock #

R1939 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

80519584-80539124 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80525386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 785 (C785*)

Ref Sequence

ENSEMBL: ENSMUSP00000151571 (fasta)

Gene Model

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

AlphaFold

Q6UQ17

Predicted Effect

probably damaging
Transcript: ENSMUST00000020383
AA Change: V872E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: V872E

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 null
Transcript: ENSMUST00000220326
AA Change: C785*

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,440,304	W11R	probably damaging	Het
2700049A03Rik	A	G	12: 71,160,412		probably null	Het
3110002H16Rik	T	C	18: 12,180,505	L15P	probably damaging	Het
4933409G03Rik	T	C	2: 68,588,984	S26P	possibly damaging	Het
9930021J03Rik	A	G	19: 29,753,677	F712S	possibly damaging	Het
Ace2	A	T	X: 164,156,528	M123L	possibly damaging	Het
Acot3	A	G	12: 84,058,551	N264S	probably benign	Het
Acvr1c	A	T	2: 58,283,505	N248K	probably damaging	Het
Adam22	A	T	5: 8,330,015	F94L	probably damaging	Het
Adarb2	T	C	13: 8,203,322		probably null	Het
Aldh1b1	A	G	4: 45,802,755	M98V	possibly damaging	Het
Arfgef2	T	A	2: 166,873,628	V1331D	probably damaging	Het
Atf2	G	A	2: 73,846,219	P184S	probably damaging	Het
Birc6	T	C	17: 74,670,337	S4362P	probably damaging	Het
Chn1	A	G	2: 73,624,901	C39R	probably damaging	Het
Cngb1	C	A	8: 95,299,692	G154W	probably damaging	Het
Cntnap5b	A	G	1: 99,967,348	H115R	probably benign	Het
Col23a1	A	G	11: 51,551,989	D159G	unknown	Het
Coro7	T	C	16: 4,628,732	E843G	probably benign	Het
Dnase2a	G	T	8: 84,910,895	A309S	possibly damaging	Het
Dync2h1	A	G	9: 7,139,159		probably null	Het
Engase	T	A	11: 118,479,186	N97K	probably damaging	Het
Fam83b	A	T	9: 76,493,080	M247K	probably damaging	Het
Fer	T	C	17: 63,973,128	S65P	probably damaging	Het
Fgf10	A	G	13: 118,789,152	R156G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm5415	T	C	1: 32,545,546	I428V	probably damaging	Het
Gm904	T	C	13: 50,644,736		probably null	Het
Gpat2	T	A	2: 127,435,959	*802K	probably null	Het
Hcfc2	G	T	10: 82,702,450	R107L	probably damaging	Het
Itga8	T	G	2: 12,300,846	D111A	probably damaging	Het
Jag1	C	G	2: 137,083,473	V1070L	possibly damaging	Het
Lama5	T	C	2: 180,190,921	N1646S	probably benign	Het
Lgals8	T	G	13: 12,459,188	I10L	probably benign	Het
Lrp1b	A	G	2: 40,697,589	S116P	unknown	Het
Mcpt1	A	T	14: 56,019,089	K94I	possibly damaging	Het
Mpnd	T	C	17: 56,015,920	F384S	probably damaging	Het
Mrgprb5	A	T	7: 48,168,938	N16K	probably benign	Het
Myo15b	A	G	11: 115,887,703	T1139A	probably benign	Het
Nat8f5	A	C	6: 85,817,819	I53R	possibly damaging	Het
Nav1	A	T	1: 135,465,898	L1034Q	probably damaging	Het
Nudt6	T	C	3: 37,405,230	Y54C	probably damaging	Het
Olfr1404	G	T	1: 173,215,932	A94S	probably benign	Het
Olfr482	A	G	7: 108,095,141	V143A	probably benign	Het
Olfr815	A	C	10: 129,902,101	M203R	probably damaging	Het
Olfr881	A	G	9: 37,993,089	N199S	probably benign	Het
Olfr893	T	A	9: 38,209,429	Y72*	probably null	Het
Osbpl8	A	T	10: 111,289,811	H784L	probably benign	Het
Osr1	T	G	12: 9,579,687	S187A	probably damaging	Het
Pcdhgc5	A	G	18: 37,821,950	Y759C	probably damaging	Het
Pkd1l2	G	T	8: 117,046,182	Y1035*	probably null	Het
Pla2g15	A	G	8: 106,163,295	T400A	probably damaging	Het
Pms1	A	C	1: 53,196,976	L715R	probably damaging	Het
Prkd1	T	C	12: 50,394,994	N254S	probably benign	Het
Prkdc	T	C	16: 15,835,913	V3868A	possibly damaging	Het
Ptprt	T	C	2: 161,927,640	N435S	probably benign	Het
Purb	T	C	11: 6,474,943	E315G	unknown	Het
Rap1b	A	T	10: 117,818,586	N116K	probably damaging	Het
Rp1l1	A	G	14: 64,029,593	N876S	probably benign	Het
Rps6ka4	T	A	19: 6,839,466	I114F	probably damaging	Het
Sh3bp2	A	G	5: 34,551,619	N19D	probably damaging	Het
Slc16a4	A	G	3: 107,301,001	M276V	probably benign	Het
Slc17a1	A	G	13: 23,875,881	T172A	probably benign	Het
Slc4a7	C	T	14: 14,748,581	A320V	probably damaging	Het
Slco1a6	T	A	6: 142,133,230	Y113F	probably damaging	Het
Srsf6	C	T	2: 162,934,483		probably benign	Het
St3gal6	A	T	16: 58,473,561		probably null	Het
Tdp2	A	G	13: 24,841,277	D343G	probably benign	Het
Tecpr2	T	A	12: 110,933,169	L657Q	probably damaging	Het
Tet2	T	C	3: 133,488,638	T12A	possibly damaging	Het
Trappc6a	T	A	7: 19,514,501	F28I	probably damaging	Het
Trim32	G	A	4: 65,614,066	V287I	probably benign	Het
Trpd52l3	T	C	19: 30,003,889	S15P	probably damaging	Het
Tsnaxip1	A	G	8: 105,840,038	I169V	probably benign	Het
Ttc34	G	A	4: 154,865,682	A1031T	possibly damaging	Het
Ttll11	T	A	2: 35,940,753	Q18L	probably null	Het
Ttll8	A	T	15: 88,915,486	I584N	probably damaging	Het
Ubiad1	A	G	4: 148,444,011	L147P	probably damaging	Het
Ucp3	T	C	7: 100,480,664	V171A	probably benign	Het
Vmn1r174	T	A	7: 23,754,107	I66N	probably damaging	Het
Vmn2r13	T	C	5: 109,191,986	D41G	possibly damaging	Het
Vmn2r4	T	C	3: 64,398,555	D393G	probably benign	Het
Wipf2	C	T	11: 98,892,410	R221*	probably null	Het
Zfp976	C	A	7: 42,613,681	C244F	unknown	Het
Zmym5	A	G	14: 56,799,120	V190A	probably damaging	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
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
R7673:Atp8b3	UTSW	10	80524406	missense	probably damaging	0.99
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'- TGCAGAGAAGCCGTTGACTAG -3'
(R):5'- AAGCAAAAGGCCCTTGTGGTG -3'

Sequencing Primer
(F):5'- CCGTTGACTAGAGAGAACCATATCTG -3'
(R):5'- TGGTGGCATTGGTGAAGAAATACC -3'

Posted On

2014-07-14