Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Atp8b3'

65306

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

038499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0277 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80519584-80539124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80526909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 672 (K672E)

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: K672E

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: K672E

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: K672E

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.1012

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 125,318,643	K69R	unknown	Het
4932438A13Rik	T	A	3: 36,943,182	C1129*	probably null	Het
Abca13	A	C	11: 9,294,701	D2188A	probably benign	Het
Acad11	T	C	9: 104,124,025	M708T	probably damaging	Het
Adam7	T	C	14: 68,510,857		probably null	Het
Adgre1	T	A	17: 57,444,060	I578N	probably benign	Het
Agbl4	T	C	4: 111,617,222	S403P	probably damaging	Het
Ak3	A	G	19: 29,047,792	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,747,380		probably benign	Het
Arhgef1	A	T	7: 24,923,799		probably benign	Het
Arsk	T	C	13: 76,074,932	N182S	probably benign	Het
Aspscr1	G	A	11: 120,678,420	V15I	probably damaging	Het
Asxl2	A	G	12: 3,442,487	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,568,252	F345S	possibly damaging	Het
Bmp2k	A	G	5: 97,087,823		probably benign	Het
Casp6	T	A	3: 129,910,523	V86E	probably benign	Het
Cdca5	A	G	19: 6,090,712	E260G	unknown	Het
Cpb2	T	A	14: 75,265,458	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477	S183T	unknown	Het
Dhtkd1	T	A	2: 5,914,888	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046	D1823G	probably benign	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
Erc1	T	C	6: 119,620,328	K1003E	probably damaging	Het
Ezr	G	A	17: 6,754,765	Q105*	probably null	Het
Fam83d	T	A	2: 158,785,547	D385E	probably benign	Het
Fbn2	A	G	18: 58,045,317	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,184,209	I236N	probably damaging	Het
Fcgbp	G	T	7: 28,085,493		probably null	Het
Foxe3	T	C	4: 114,925,608	N136D	probably damaging	Het
Fscn2	A	T	11: 120,368,011	I461F	probably damaging	Het
Gldc	A	G	19: 30,116,451	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,270,646	L125S	possibly damaging	Het
Gnl3	A	C	14: 31,013,427		probably null	Het
Gsto1	A	T	19: 47,857,977	I88F	probably damaging	Het
Gucy1b1	T	A	3: 82,038,156		probably null	Het
Hhla1	C	A	15: 65,948,503	V133F	probably benign	Het
Hipk3	T	A	2: 104,441,248	L446F	probably damaging	Het
Hscb	T	C	5: 110,834,690	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,991,405	D266G	probably benign	Het
Ipo4	T	C	14: 55,632,115	S363G	probably benign	Het
Kcnip3	A	G	2: 127,459,979		probably benign	Het
Klhl41	A	G	2: 69,671,296	Y367C	probably damaging	Het
Klk1b4	C	G	7: 44,211,629	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,054,322	D53G	probably damaging	Het
Llgl2	A	G	11: 115,850,720	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,643,422	T269P	probably damaging	Het
Mark1	A	G	1: 184,944,952	S34P	possibly damaging	Het
Megf11	G	A	9: 64,691,350		probably null	Het
Mplkip	A	G	13: 17,696,980	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690		probably benign	Het
Myo18b	A	G	5: 112,693,347		probably benign	Het
Myo9b	T	C	8: 71,355,952		probably benign	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,934,935		probably benign	Het
Nfe2l3	T	A	6: 51,457,468	M336K	probably benign	Het
Nrxn1	A	C	17: 90,700,742		probably null	Het
Nsun3	A	T	16: 62,776,644		probably benign	Het
Nuak1	T	C	10: 84,374,451	E591G	probably benign	Het
Olfr1347	T	A	7: 6,488,434	M147L	probably benign	Het
Olfr1511	T	C	14: 52,390,389	Y128C	probably damaging	Het
Olfr215	A	T	6: 116,582,601	V115E	probably damaging	Het
Olfr23	A	T	11: 73,940,947	I234F	probably benign	Het
Olfr730	T	C	14: 50,186,332	N296S	probably null	Het
Olfr814	T	A	10: 129,874,067	Q230L	probably damaging	Het
Olfr982	G	A	9: 40,074,714	V140I	probably benign	Het
Orc4	A	T	2: 48,937,467	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,979,892		probably benign	Het
Palm3	T	A	8: 84,028,720	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620	P100Q	probably damaging	Het
Pdss2	T	A	10: 43,372,176	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,275,538	D2755E	probably benign	Het
Prune2	A	T	19: 17,121,389	D1419V	probably damaging	Het
Pth2r	A	C	1: 65,388,616	I483L	probably benign	Het
Qrsl1	A	G	10: 43,896,007		probably null	Het
Rab11fip4	A	G	11: 79,686,629	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,677,238	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,857,900		probably benign	Het
Rsbn1	T	C	3: 103,914,581	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,989,702	M1K	probably null	Het
Sf3b1	T	C	1: 55,019,257	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,126,671	M777K	probably benign	Het
Sipa1	A	T	19: 5,654,065	M743K	probably benign	Het
Skint5	T	C	4: 113,937,621	H255R	probably benign	Het
Slco6b1	A	T	1: 96,988,673		noncoding transcript	Het
Slfn4	A	T	11: 83,186,951	R188S	probably damaging	Het
Sort1	T	C	3: 108,324,592		probably benign	Het
Spg21	A	T	9: 65,465,347	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,745,145	I1544F	probably benign	Het
Srf	T	C	17: 46,549,489	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,564,596		probably benign	Het
Stx2	C	T	5: 128,988,903	V230I	probably benign	Het
Sv2b	A	T	7: 75,206,439	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,661,788	S255P	probably damaging	Het
Tbx15	C	T	3: 99,352,391	P526L	probably damaging	Het
Tenm4	C	A	7: 96,694,950	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,710,927		probably benign	Het
Tgm1	T	C	14: 55,712,652		probably benign	Het
Thsd7b	A	G	1: 130,195,263	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,739,881	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,806,427		probably null	Het
Uty	T	A	Y: 1,169,979	I326F	probably damaging	Het
Wdfy4	T	C	14: 33,083,785	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,847,383	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,513,268	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,852,348	E882V	probably damaging	Het
Zfp455	G	T	13: 67,198,664		probably null	Het
Zmpste24	A	G	4: 121,082,853	Y199H	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
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
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'- CTATACATGAGTGCAAGAGTGCCCC -3'
(R):5'- GGCCCTGCACCAGGTGTATAATAAG -3'

Sequencing Primer
(F):5'- TTCAACGCTGACCTGGAG -3'
(R):5'- CACCAGGTGTATAATAAGATGGAAC -3'

Posted On

2013-08-08