Mutagenetix > Incidental Mutation

Incidental Mutation 'R7921:Atp8b3'

648381

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: 0.118) question?

Stock #

R7921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80519584-80539124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80530603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 275 (N275K)

Ref Sequence

ENSEMBL: ENSMUSP00000020383 (fasta)

Gene Model

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

AlphaFold

Q6UQ17

Predicted Effect

probably damaging
Transcript: ENSMUST00000020383
AA Change: N275K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: N275K

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: N275K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

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

Validation Efficiency

95% (84/88)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,677,995	M1426R	probably benign	Het
Adh7	A	T	3: 138,224,010	Y149F	probably damaging	Het
Ankdd1b	C	A	13: 96,424,780	V319F	possibly damaging	Het
Ankrd13d	T	C	19: 4,271,030	D483G	probably damaging	Het
Anks4b	A	T	7: 120,182,769	E341V	probably benign	Het
Aqp12	A	G	1: 93,012,008	H253R	probably benign	Het
Atp2c1	A	G	9: 105,414,687	I892T	probably damaging	Het
Carmil2	C	A	8: 105,691,104	N610K	probably damaging	Het
Cd96	GCCCAAAC	G	16: 46,038,480		probably null	Het
Cdh10	A	T	15: 18,991,956	I434F	probably damaging	Het
Celf1	A	T	2: 90,998,747	Q53L	probably benign	Het
Cers4	T	A	8: 4,515,704	V50E	probably damaging	Het
Chd9	T	C	8: 91,042,281		probably null	Het
Cir1	A	G	2: 73,310,455		probably null	Het
Ckap5	A	G	2: 91,548,940	Y75C	probably damaging	Het
Cndp1	A	G	18: 84,622,258	M274T	probably benign	Het
Col22a1	A	T	15: 71,981,962		probably null	Het
Col24a1	G	T	3: 145,474,238	G1162C	probably damaging	Het
Cr2	A	T	1: 195,151,667	L938Q	possibly damaging	Het
Cubn	G	A	2: 13,424,727	T1321I	probably benign	Het
Cyp3a44	G	A	5: 145,791,688	P242L	probably damaging	Het
Ddx4	A	T	13: 112,601,507	D539E	probably benign	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dgkd	G	T	1: 87,924,084	V403L	probably damaging	Het
Dnah2	T	A	11: 69,520,834	M321L	probably benign	Het
Dpy19l1	A	T	9: 24,422,338	M433K	possibly damaging	Het
Enoph1	A	G	5: 100,061,133	K116E	probably benign	Het
Exd1	C	A	2: 119,530,099	C174F	probably damaging	Het
Exoc7	A	T	11: 116,297,682		probably null	Het
Fam183b	T	C	11: 58,801,781	H40R	possibly damaging	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Farp2	G	C	1: 93,567,515		probably null	Het
Fbxo22	A	T	9: 55,218,353	I167L	probably benign	Het
Fchsd2	A	G	7: 101,250,542	N365S	probably benign	Het
Fgr	T	G	4: 132,986,521		probably null	Het
Fkbp9	A	G	6: 56,851,385	D194G	probably damaging	Het
Flnb	T	C	14: 7,933,800	S2152P	possibly damaging	Het
Flnc	A	G	6: 29,447,770	I1191V	possibly damaging	Het
Fpr-rs7	A	T	17: 20,113,405	N274K	probably benign	Het
Fuca1	A	G	4: 135,929,910	D211G	probably damaging	Het
Glb1l2	C	T	9: 26,773,968		probably null	Het
Gm13088	T	C	4: 143,656,565	E28G	probably damaging	Het
Gm48552	T	C	10: 81,390,992	*136R	probably null	Het
Hdgfl2	T	C	17: 56,093,724		probably null	Het
Icmt	T	G	4: 152,303,158	V270G	probably damaging	Het
Icosl	A	T	10: 78,073,740	D173V	probably benign	Het
Icosl	G	A	10: 78,073,952	V244I	probably benign	Het
Iqsec1	C	T	6: 90,667,941	R903H	probably damaging	Het
Lrtm2	G	A	6: 119,317,367	P268S	possibly damaging	Het
Methig1	T	A	15: 100,353,370	L54Q	probably benign	Het
Mga	T	A	2: 119,919,678	L686H	probably damaging	Het
Mki67	A	T	7: 135,695,204	S2700R	probably benign	Het
Muc16	T	A	9: 18,659,318	D635V	unknown	Het
Muc4	G	A	16: 32,751,321	V400I	possibly damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Myh8	T	C	11: 67,283,818	I253T	probably damaging	Het
Myo15b	A	T	11: 115,887,178	K852*	probably null	Het
Myo19	C	T	11: 84,908,238	T799I	possibly damaging	Het
Naca	T	G	10: 128,043,049	S1317A	unknown	Het
Nipa1	T	C	7: 55,979,810	Y185C	probably damaging	Het
Nlrc5	T	A	8: 94,487,664	N910K	probably damaging	Het
Nucks1	G	T	1: 131,910,736	M1I	probably null	Het
Nudt13	T	C	14: 20,304,072	V68A	probably benign	Het
Oacyl	A	T	18: 65,725,383	M260L	probably benign	Het
Olfr106-ps	C	T	17: 37,395,442	L301F	possibly damaging	Het
Olfr524	A	T	7: 140,202,299	I157N	probably damaging	Het
Olfr586	A	T	7: 103,122,428	S115T	probably damaging	Het
Osbpl6	A	G	2: 76,585,097	N601S	probably damaging	Het
Pcdh9	A	G	14: 93,015,565	S1221P	probably benign	Het
Pcdhb16	T	C	18: 37,478,245	L86P	probably damaging	Het
Pclo	A	C	5: 14,669,234	Q1128H	unknown	Het
Pcnx2	T	A	8: 125,837,863	Y1097F	probably benign	Het
Per1	T	A	11: 69,100,779	D46E	probably damaging	Het
Plce1	T	A	19: 38,620,553	D435E	probably benign	Het
Prkaa1	C	A	15: 5,177,151	Q461K	probably damaging	Het
Proc	C	T	18: 32,123,417	G399D	probably damaging	Het
Rbak	G	T	5: 143,174,262	S345R	probably damaging	Het
Rsph3b	T	C	17: 6,905,091	I325V	probably benign	Het
Sbf1	A	T	15: 89,306,223	L323Q	probably damaging	Het
Scd3	G	A	19: 44,235,892	R188H	possibly damaging	Het
Setdb1	T	G	3: 95,326,399	N1067H	possibly damaging	Het
Spopl	G	A	2: 23,545,478	T15I	probably benign	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stk39	A	G	2: 68,307,039		probably null	Het
Syt13	G	T	2: 92,953,646	M420I	probably damaging	Het
Tas1r1	A	T	4: 152,028,661	I645N	possibly damaging	Het
Tbx3	A	T	5: 119,680,869	Q523L	possibly damaging	Het
Tbx3	G	T	5: 119,680,870	Q523H	probably benign	Het
Tcf23	C	T	5: 30,970,150	Q99*	probably null	Het
Tfip11	T	A	5: 112,335,576	M619K	probably benign	Het
Tg	A	T	15: 66,683,793	H778L	probably benign	Het
Utp3	A	G	5: 88,554,896	S95G	probably benign	Het
Zfp458	T	A	13: 67,256,116	*753L	probably null	Het
Zfp9	T	C	6: 118,465,071	Y210C	possibly 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
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
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'- GGGAGCTCAAGGTTAGTCTG -3'
(R):5'- GGCTAGTTGTCAGCACTCTG -3'

Sequencing Primer
(F):5'- CTCAAGGTTAGTCTGCATATATGGC -3'
(R):5'- TCAGCACTCTGGTTATCATTGAG -3'

Posted On

2020-09-15