Mutagenetix > Incidental Mutation

Incidental Mutation 'R9554:Atp8b3'

720670

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 #

R9554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80519584-80539124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80524363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 958 (T958M)

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: T958M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: T958M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,138,281	E817G	probably benign	Het
Abhd12b	A	G	12: 70,169,214	T182A	probably benign	Het
Allc	A	T	12: 28,557,415	C279*	probably null	Het
Ang	A	G	14: 51,101,519	D39G	probably damaging	Het
Ccnyl1	A	G	1: 64,714,591	Y187C	probably damaging	Het
Chd3	A	T	11: 69,360,189	W616R	probably damaging	Het
Cyp17a1	C	T	19: 46,668,726	R361H	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dcp1a	A	G	14: 30,479,734	Q38R	probably benign	Het
Ddias	T	C	7: 92,858,352	N785S	probably benign	Het
Depdc5	A	G	5: 32,964,732	N1133S	probably benign	Het
Dhx8	T	A	11: 101,754,788	Y877*	probably null	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Fam120b	G	A	17: 15,405,758	A458T	possibly damaging	Het
Fam160a2	C	A	7: 105,389,708	R108L	probably damaging	Het
Fgd4	G	A	16: 16,490,489	T9I	probably benign	Het
Gfpt1	C	T	6: 87,085,341	R561W	probably damaging	Het
Gm4788	A	T	1: 139,740,431	S321R	probably benign	Het
Gm5773	A	G	3: 93,773,033	D4G	probably benign	Het
Helz2	T	A	2: 181,240,677	T108S	probably damaging	Het
Hivep1	G	A	13: 42,154,775	D164N	possibly damaging	Het
Kif15	G	T	9: 122,999,520	L902F	probably damaging	Het
Lrp2	T	A	2: 69,431,153	R4481S	probably damaging	Het
Mcm3ap	T	C	10: 76,496,476	V1209A	probably damaging	Het
Mkrn1	C	T	6: 39,399,904	R377H	probably benign	Het
Ms4a4a	G	A	19: 11,390,344	M191I	probably benign	Het
Myh11	T	A	16: 14,200,716	N1922I		Het
Nbeal1	C	T	1: 60,251,128	Q998*	probably null	Het
Neil3	C	A	8: 53,608,735	G204C	probably damaging	Het
Nsmce1	T	C	7: 125,467,822	E262G	possibly damaging	Het
Oc90	G	A	15: 65,889,588	P194S	probably benign	Het
Olfr1246	C	A	2: 89,590,366	V250F	probably damaging	Het
Olfr1375	T	A	11: 51,048,396	Y96*	probably null	Het
Olfr169	T	A	16: 19,565,972	I304F	possibly damaging	Het
Olfr495	A	G	7: 108,395,158	T13A	probably benign	Het
Olfr578	A	T	7: 102,984,567	I199N	probably damaging	Het
Olfr819	A	T	10: 129,966,312	F123L	probably benign	Het
Olfr945	A	C	9: 39,258,460	F71V	possibly damaging	Het
Olfr984	T	A	9: 40,100,864	M209L	probably benign	Het
Oplah	A	G	15: 76,309,587	S57P	probably benign	Het
Pdzd8	A	T	19: 59,345,142	L149Q	probably damaging	Het
Pid1	A	G	1: 84,159,311	V33A	probably benign	Het
Polr3gl	A	G	3: 96,581,721	V60A	possibly damaging	Het
Prdm1	A	G	10: 44,441,246	V527A	probably benign	Het
Sbf2	T	C	7: 110,441,464	I385M	probably damaging	Het
Setbp1	C	T	18: 78,783,384	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,224,152	T389A	probably benign	Het
Skint9	A	T	4: 112,391,718	M171K	probably benign	Het
Slx4	C	A	16: 3,987,956	M577I	probably benign	Het
Srcap	T	C	7: 127,552,405	S2092P	probably damaging	Het
Traf6	T	A	2: 101,688,608	H147Q	probably benign	Het
Ttn	T	A	2: 76,717,349	E32159V	possibly damaging	Het
Ubn1	T	C	16: 5,070,628	S154P	unknown	Het
Uchl1	T	A	5: 66,676,306	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,219,819	M1K	probably null	Het
Wisp1	G	A	15: 66,913,051	R191K	probably benign	Het
Zfp429	T	A	13: 67,390,412	K304N	probably benign	Het
Zfp607b	T	A	7: 27,703,039	S307T	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
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
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'- AGGCTGGAGAGATCTGGTTC -3'
(R):5'- ATGGCATCAGGAGCTCTCTAAG -3'

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

Posted On

2022-08-09