Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Atp8b3'

179370

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp8b3

Ensembl Gene

ENSMUSG00000003341

Gene Name

ATPase, class I, type 8B, member 3

Synonyms

1700042F02Rik, 1700056N23Rik, SAPLT

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

80355418-80374958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80357662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1119 (V1119D)

Ref Sequence

ENSEMBL: ENSMUSP00000020383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000051773] [ENSMUST00000220326]

AlphaFold

Q6UQ17

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020383
AA Change: V1119D

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: V1119D

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: ENSMUST00000051773

SMART Domains

Protein: ENSMUSP00000053288
Gene: ENSMUSG00000045518

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	56	76	N/A	INTRINSIC
low complexity region	98	116	N/A	INTRINSIC
low complexity region	126	151	N/A	INTRINSIC
low complexity region	190	227	N/A	INTRINSIC
CUT	310	395	1.24e-42	SMART
HOX	411	473	1.07e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220326

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,678,482 (GRCm39)	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,255,372 (GRCm39)	E321V	possibly damaging	Het
Cacna1e	G	T	1: 154,319,646 (GRCm39)	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,274 (GRCm39)	W585R	probably damaging	Het
Ccdc113	C	T	8: 96,263,086 (GRCm39)		probably benign	Het
Ccer1	A	T	10: 97,529,912 (GRCm39)	I192F	unknown	Het
Chd8	T	C	14: 52,436,551 (GRCm39)	N90S	probably benign	Het
Clca3a1	A	T	3: 144,453,333 (GRCm39)	C463*	probably null	Het
Cplane1	T	A	15: 8,258,591 (GRCm39)	V2279E	possibly damaging	Het
Cyp2c65	T	A	19: 39,060,676 (GRCm39)	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,182,874 (GRCm39)	Q35R	probably benign	Het
Enpep	T	C	3: 129,063,983 (GRCm39)	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,638,629 (GRCm39)	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498 (GRCm38)	*456R	probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Iqcm	T	G	8: 76,615,188 (GRCm39)	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,355,534 (GRCm39)	V305L	probably benign	Het
Kif1a	G	A	1: 92,953,455 (GRCm39)	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,810,450 (GRCm39)	D298G	probably damaging	Het
Lypd8	A	G	11: 58,281,046 (GRCm39)	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,965,119 (GRCm39)	V107M	probably damaging	Het
Myo15b	A	G	11: 115,774,324 (GRCm39)	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,776,417 (GRCm39)	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,808,728 (GRCm39)	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,029,300 (GRCm39)	L908P	probably damaging	Het
Samd4b	T	C	7: 28,101,334 (GRCm39)		probably null	Het
Slc28a2b	A	C	2: 122,355,572 (GRCm39)	Y588S	possibly damaging	Het
Stau2	C	T	1: 16,416,161 (GRCm39)	G401S	probably damaging	Het
Trpa1	A	T	1: 14,957,867 (GRCm39)	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,205,491 (GRCm39)	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,602,864 (GRCm39)	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,382,245 (GRCm39)	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,499,227 (GRCm39)	N228S	probably benign	Het
Vps13d	A	G	4: 144,882,836 (GRCm39)	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,570,461 (GRCm39)	V208I	probably benign	Het
Zfp990	A	T	4: 145,263,427 (GRCm39)	T142S	probably damaging	Het
Zfp990	C	A	4: 145,263,428 (GRCm39)	T142N	probably damaging	Het

Other mutations in Atp8b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Atp8b3	APN	10	80,366,821 (GRCm39)	missense	probably damaging	1.00
IGL00484:Atp8b3	APN	10	80,361,998 (GRCm39)	splice site	probably benign
IGL00904:Atp8b3	APN	10	80,364,598 (GRCm39)	missense	probably damaging	1.00
IGL01326:Atp8b3	APN	10	80,360,210 (GRCm39)	missense	probably damaging	0.98
IGL01368:Atp8b3	APN	10	80,370,063 (GRCm39)	splice site	probably benign
IGL01448:Atp8b3	APN	10	80,356,256 (GRCm39)	missense	probably benign	0.02
IGL01556:Atp8b3	APN	10	80,366,802 (GRCm39)	nonsense	probably null
IGL01754:Atp8b3	APN	10	80,366,795 (GRCm39)	splice site	probably null
IGL01809:Atp8b3	APN	10	80,355,845 (GRCm39)	missense	probably benign	0.02
IGL02184:Atp8b3	APN	10	80,363,067 (GRCm39)	splice site	probably benign
IGL02224:Atp8b3	APN	10	80,361,810 (GRCm39)	splice site	probably benign
IGL02377:Atp8b3	APN	10	80,356,128 (GRCm39)	missense	probably benign	0.06
IGL02405:Atp8b3	APN	10	80,366,462 (GRCm39)	missense	probably damaging	1.00
IGL03090:Atp8b3	APN	10	80,366,438 (GRCm39)	missense	probably damaging	1.00
IGL03244:Atp8b3	APN	10	80,370,292 (GRCm39)	missense	probably damaging	1.00
PIT4544001:Atp8b3	UTSW	10	80,366,420 (GRCm39)	missense	probably benign	0.14
R0277:Atp8b3	UTSW	10	80,362,743 (GRCm39)	missense	probably benign	0.21
R0908:Atp8b3	UTSW	10	80,355,918 (GRCm39)	missense	probably benign	0.03
R0973:Atp8b3	UTSW	10	80,370,032 (GRCm39)	missense	probably damaging	1.00
R1069:Atp8b3	UTSW	10	80,366,852 (GRCm39)	missense	probably damaging	1.00
R1087:Atp8b3	UTSW	10	80,356,017 (GRCm39)	missense	probably benign	0.00
R1553:Atp8b3	UTSW	10	80,368,376 (GRCm39)	missense	probably damaging	1.00
R1603:Atp8b3	UTSW	10	80,361,619 (GRCm39)	missense	probably benign	0.06
R1606:Atp8b3	UTSW	10	80,368,412 (GRCm39)	missense	probably damaging	1.00
R1707:Atp8b3	UTSW	10	80,357,635 (GRCm39)	splice site	probably null
R1717:Atp8b3	UTSW	10	80,364,631 (GRCm39)	missense	probably damaging	1.00
R1876:Atp8b3	UTSW	10	80,365,912 (GRCm39)	missense	possibly damaging	0.70
R1939:Atp8b3	UTSW	10	80,361,220 (GRCm39)	nonsense	probably null
R2138:Atp8b3	UTSW	10	80,362,939 (GRCm39)	missense	possibly damaging	0.79
R2239:Atp8b3	UTSW	10	80,366,822 (GRCm39)	missense	probably damaging	1.00
R2429:Atp8b3	UTSW	10	80,362,728 (GRCm39)	missense	probably benign	0.02
R2696:Atp8b3	UTSW	10	80,370,017 (GRCm39)	missense	possibly damaging	0.94
R2910:Atp8b3	UTSW	10	80,355,746 (GRCm39)	missense	possibly damaging	0.90
R3424:Atp8b3	UTSW	10	80,372,181 (GRCm39)	missense	probably benign	0.35
R3425:Atp8b3	UTSW	10	80,372,181 (GRCm39)	missense	probably benign	0.35
R3432:Atp8b3	UTSW	10	80,362,014 (GRCm39)	missense	probably benign	0.10
R3841:Atp8b3	UTSW	10	80,365,540 (GRCm39)	missense	possibly damaging	0.95
R4515:Atp8b3	UTSW	10	80,359,681 (GRCm39)	missense	probably benign
R4518:Atp8b3	UTSW	10	80,359,681 (GRCm39)	missense	probably benign
R4519:Atp8b3	UTSW	10	80,359,681 (GRCm39)	missense	probably benign
R4619:Atp8b3	UTSW	10	80,361,858 (GRCm39)	missense	possibly damaging	0.67
R4648:Atp8b3	UTSW	10	80,361,457 (GRCm39)	missense	possibly damaging	0.94
R4709:Atp8b3	UTSW	10	80,372,604 (GRCm39)	splice site	probably null
R4774:Atp8b3	UTSW	10	80,372,156 (GRCm39)	missense	probably damaging	1.00
R4796:Atp8b3	UTSW	10	80,360,188 (GRCm39)	missense	probably damaging	1.00
R5000:Atp8b3	UTSW	10	80,357,676 (GRCm39)	missense	possibly damaging	0.82
R5398:Atp8b3	UTSW	10	80,365,533 (GRCm39)	missense	probably damaging	1.00
R5778:Atp8b3	UTSW	10	80,356,007 (GRCm39)	missense	probably benign
R5990:Atp8b3	UTSW	10	80,361,531 (GRCm39)	missense	possibly damaging	0.65
R6124:Atp8b3	UTSW	10	80,365,515 (GRCm39)	missense	probably damaging	1.00
R6427:Atp8b3	UTSW	10	80,356,157 (GRCm39)	splice site	probably null
R6748:Atp8b3	UTSW	10	80,361,058 (GRCm39)	missense	possibly damaging	0.56
R6756:Atp8b3	UTSW	10	80,361,895 (GRCm39)	missense	possibly damaging	0.76
R7051:Atp8b3	UTSW	10	80,365,552 (GRCm39)	missense	probably damaging	0.99
R7051:Atp8b3	UTSW	10	80,355,858 (GRCm39)	missense	probably benign	0.02
R7052:Atp8b3	UTSW	10	80,355,858 (GRCm39)	missense	probably benign	0.02
R7418:Atp8b3	UTSW	10	80,365,926 (GRCm39)	missense	probably damaging	0.99
R7426:Atp8b3	UTSW	10	80,365,463 (GRCm39)	critical splice donor site	probably null
R7625:Atp8b3	UTSW	10	80,355,980 (GRCm39)	missense	probably benign	0.00
R7673:Atp8b3	UTSW	10	80,360,240 (GRCm39)	missense	probably damaging	0.99
R7921:Atp8b3	UTSW	10	80,366,437 (GRCm39)	missense	probably damaging	1.00
R8077:Atp8b3	UTSW	10	80,366,858 (GRCm39)	missense	possibly damaging	0.95
R8235:Atp8b3	UTSW	10	80,365,650 (GRCm39)	missense	probably damaging	0.96
R8354:Atp8b3	UTSW	10	80,361,633 (GRCm39)	missense	probably benign	0.00
R8454:Atp8b3	UTSW	10	80,361,633 (GRCm39)	missense	probably benign	0.00
R8501:Atp8b3	UTSW	10	80,355,980 (GRCm39)	missense	probably benign
R8712:Atp8b3	UTSW	10	80,365,923 (GRCm39)	missense	possibly damaging	0.52
R8962:Atp8b3	UTSW	10	80,355,896 (GRCm39)	missense	probably benign	0.13
R9129:Atp8b3	UTSW	10	80,368,412 (GRCm39)	missense	probably damaging	1.00
R9333:Atp8b3	UTSW	10	80,360,180 (GRCm39)	missense	probably benign	0.01
R9438:Atp8b3	UTSW	10	80,361,409 (GRCm39)	missense	probably damaging	1.00
R9486:Atp8b3	UTSW	10	80,366,821 (GRCm39)	missense	probably damaging	1.00
R9554:Atp8b3	UTSW	10	80,360,197 (GRCm39)	missense	probably damaging	1.00
R9570:Atp8b3	UTSW	10	80,361,822 (GRCm39)	missense	probably benign	0.05
R9682:Atp8b3	UTSW	10	80,371,230 (GRCm39)	missense	probably damaging	1.00
R9748:Atp8b3	UTSW	10	80,364,407 (GRCm39)	missense	probably damaging	0.96
RF006:Atp8b3	UTSW	10	80,362,070 (GRCm39)	missense	probably benign	0.15
Z1177:Atp8b3	UTSW	10	80,366,911 (GRCm39)	missense	probably benign	0.02

Posted On

2014-05-07