Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Atp8b3'

693484

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: 0.093) question?

Stock #

R9129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80519584-80539124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80532578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 187 (E187G)

Ref Sequence

ENSEMBL: ENSMUSP00000151571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000219648] [ENSMUST00000220326]

AlphaFold

Q6UQ17

Predicted Effect

probably damaging
Transcript: ENSMUST00000020383
AA Change: E187G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: E187G

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: ENSMUST00000219648

Predicted Effect

probably damaging
Transcript: ENSMUST00000220326
AA Change: E187G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,260	S1238P	probably damaging	Het
Akap9	T	C	5: 4,069,089	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,421,216	L701P		Het
Aph1b	A	C	9: 66,779,313	I225S	probably benign	Het
Asic4	A	T	1: 75,469,825	H337L	possibly damaging	Het
Atp9a	A	G	2: 168,675,285	M376T	probably benign	Het
BC049730	A	G	7: 24,713,745	D163G	probably benign	Het
Bod1l	G	T	5: 41,818,877	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,336,454		probably null	Het
Catsper1	C	A	19: 5,340,374		probably benign	Het
Cd248	T	C	19: 5,070,112	S663P	probably benign	Het
Crispld2	A	T	8: 120,010,749	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,896,315	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,314,711	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,681,764		probably benign	Het
Dsp	T	A	13: 38,193,150	V1637D	probably benign	Het
Elovl1	A	T	4: 118,431,959	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,410,120	K483E	probably benign	Het
Fzd2	T	C	11: 102,605,639	F303S	probably benign	Het
Gm14548	C	A	7: 3,895,501		probably null	Het
Gm9944	A	T	4: 144,453,193	V42D	unknown	Het
Grik5	G	A	7: 25,068,004		probably benign	Het
Hdac4	T	C	1: 91,982,207	D445G	probably benign	Het
Hinfp	C	T	9: 44,297,765	R352H	probably damaging	Het
Hrnr	A	G	3: 93,323,970	H505R	unknown	Het
Hsfy2	C	T	1: 56,636,593	D262N	probably benign	Het
Hspa4	G	A	11: 53,283,636	Q186*	probably null	Het
Ipo8	T	C	6: 148,798,627	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,487,748	R54*	probably null	Het
Lama4	T	A	10: 39,056,891	Y588N	probably benign	Het
Lekr1	T	A	3: 65,684,005	Y54*	probably null	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Lzts3	A	T	2: 130,634,945	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812	V628E	probably benign	Het
Mgat5b	A	C	11: 116,968,522		probably benign	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,162,593	S443L	probably benign	Het
Mtf1	G	A	4: 124,805,120		probably benign	Het
Myom2	T	C	8: 15,104,068	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,378,003		probably null	Het
Nog	G	C	11: 89,301,776	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,128,270	T795A	probably benign	Het
Olfr1032	A	T	2: 86,008,012	M79L		Het
Olfr1141	A	T	2: 87,753,704	F96L	probably benign	Het
Olfr1251	A	G	2: 89,667,586	F100S	probably damaging	Het
Olfr681	G	A	7: 105,122,016	M186I	probably benign	Het
Prl6a1	A	T	13: 27,318,081	I144L		Het
Rab11fip5	A	G	6: 85,340,910	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 32,978,156		probably benign	Het
Shisa6	A	G	11: 66,220,027	M296T	probably benign	Het
Slc18a1	T	A	8: 69,038,881	T494S	probably benign	Het
Slc22a29	T	G	19: 8,169,305	I378L	probably benign	Het
Slc23a2	C	T	2: 132,078,412		probably null	Het
Slc2a7	G	T	4: 150,158,544	R274L	probably benign	Het
Spta1	A	G	1: 174,231,345	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,364,669	V3339A	unknown	Het
Tcp10a	G	A	17: 7,326,536	D87N	probably benign	Het
Tgm5	T	G	2: 121,046,789	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,314,840	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,384,349	M50L	probably benign	Het
Ush1c	A	G	7: 46,205,205	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,114,706	T9S	probably benign	Het
Vmn1r26	T	C	6: 58,008,388	Y272C		Het
Vmn1r75	G	T	7: 11,880,586	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,459,944	R769*	probably null	Het
Vps13b	C	A	15: 35,448,647	A589E	probably damaging	Het
Vps13d	G	A	4: 145,171,679	R304W		Het
Vps41	A	G	13: 18,827,605	E294G	probably benign	Het
Xpo7	T	C	14: 70,671,673	T802A	probably benign	Het
Ylpm1	T	A	12: 85,057,278	D2022E		Het
Zfp433	T	A	10: 81,719,890	C75*	probably null	Het
Zyg11a	A	T	4: 108,181,812	S737T	probably benign	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
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
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'- AGGACTTACCCTGAGCTCTAC -3'
(R):5'- TTACCTCAGGGTGTCATCCAC -3'

Sequencing Primer
(F):5'- TTACCCTGAGCTCTACAGGGC -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'

Posted On

2022-01-20