Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02102:Atp8b5'

279785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02102

Quality Score

Status

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43364167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 684 (V684D)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107937] [ENSMUST00000107942]

AlphaFold

A3FIN4

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

probably benign
Transcript: ENSMUST00000107942
AA Change: V684D

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: V684D

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	104	1.8e-26	PFAM
Pfam:E1-E2_ATPase	103	375	4.9e-9	PFAM
Pfam:HAD	413	847	2e-18	PFAM
Pfam:Cation_ATPase	495	594	1e-9	PFAM
Pfam:PhoLip_ATPase_C	864	1118	2.6e-77	PFAM
low complexity region	1171	1180	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,754,420 (GRCm39)	T1338A	probably benign	Het
Adcy3	G	A	12: 4,184,699 (GRCm39)	C125Y	probably damaging	Het
Aoc1	A	T	6: 48,882,896 (GRCm39)	K257N	probably damaging	Het
Apob	T	C	12: 8,039,407 (GRCm39)	V497A	possibly damaging	Het
AW551984	A	G	9: 39,500,987 (GRCm39)	W763R	probably damaging	Het
Blm	G	A	7: 80,119,504 (GRCm39)	T1026M	probably damaging	Het
Cd160	A	G	3: 96,712,886 (GRCm39)	I126T	possibly damaging	Het
Cdk14	T	C	5: 5,430,083 (GRCm39)	K15E	probably benign	Het
Cnot6l	T	C	5: 96,239,518 (GRCm39)	K261R	probably damaging	Het
Cyp3a13	T	G	5: 137,909,865 (GRCm39)	T153P	probably benign	Het
Ddx24	A	G	12: 103,374,743 (GRCm39)		probably benign	Het
Dido1	G	A	2: 180,304,040 (GRCm39)	T1288I	possibly damaging	Het
Dnajc13	A	G	9: 104,106,208 (GRCm39)	V322A	possibly damaging	Het
Dnajc25	T	A	4: 59,017,693 (GRCm39)	Y117*	probably null	Het
Dsg1a	A	G	18: 20,465,089 (GRCm39)	N427D	probably benign	Het
Gabrq	T	G	X: 71,871,151 (GRCm39)		probably null	Het
Glce	A	G	9: 61,977,883 (GRCm39)		probably benign	Het
Gm10477	T	C	X: 55,570,761 (GRCm39)	L45P	probably damaging	Het
Htt	T	A	5: 35,048,825 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,252,104 (GRCm39)	E317G	probably benign	Het
Jak1	A	G	4: 101,016,283 (GRCm39)	M827T	probably benign	Het
Kalrn	A	G	16: 34,040,592 (GRCm39)	V932A	probably damaging	Het
Mdm2	A	C	10: 117,528,622 (GRCm39)	S227R	possibly damaging	Het
Or14a259	T	C	7: 86,013,074 (GRCm39)	Y157C	probably benign	Het
Or4c111	A	G	2: 88,843,470 (GRCm39)		probably benign	Het
Or5ak25	A	G	2: 85,268,611 (GRCm39)	V297A	probably damaging	Het
Or5g27	G	A	2: 85,410,017 (GRCm39)	V145I	probably damaging	Het
Or5w22	T	C	2: 87,362,805 (GRCm39)	F143L	probably benign	Het
Pdilt	T	G	7: 119,086,173 (GRCm39)	E514A	probably benign	Het
Pepd	A	G	7: 34,645,028 (GRCm39)	D153G	probably damaging	Het
Ptgis	A	T	2: 167,067,367 (GRCm39)	V70E	probably damaging	Het
Rnf112	T	C	11: 61,342,841 (GRCm39)	K262E	probably benign	Het
Setd5	G	T	6: 113,127,946 (GRCm39)	G1300*	probably null	Het
Snx15	A	G	19: 6,172,104 (GRCm39)	L113P	possibly damaging	Het
Sptbn1	T	C	11: 30,087,427 (GRCm39)	D1004G	probably damaging	Het
Ston2	A	C	12: 91,606,498 (GRCm39)	*896G	probably null	Het
Suco	A	G	1: 161,655,274 (GRCm39)	S1073P	probably damaging	Het
Susd1	A	C	4: 59,369,636 (GRCm39)	D344E	possibly damaging	Het
Trnt1	G	T	6: 106,755,073 (GRCm39)		probably null	Het
Ttll12	A	G	15: 83,466,264 (GRCm39)	F399S	probably damaging	Het
Vmn1r124	C	T	7: 20,994,467 (GRCm39)	V26I	probably benign	Het
Vmn1r52	T	A	6: 90,156,189 (GRCm39)	N164K	possibly damaging	Het
Vmn1r56	A	T	7: 5,199,335 (GRCm39)	M94K	possibly damaging	Het
Vmn1r80	T	C	7: 11,927,618 (GRCm39)	F243L	probably damaging	Het
Zdhhc8	G	A	16: 18,043,063 (GRCm39)	S379F	possibly damaging	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43,355,567 (GRCm39)	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43,311,938 (GRCm39)	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43,302,628 (GRCm39)	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43,368,010 (GRCm39)	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43,291,693 (GRCm39)	missense	probably benign	0.04
IGL01935:Atp8b5	APN	4	43,366,638 (GRCm39)	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43,320,590 (GRCm39)	critical splice acceptor site	probably null
IGL02369:Atp8b5	APN	4	43,334,205 (GRCm39)	missense	probably benign
IGL02456:Atp8b5	APN	4	43,365,578 (GRCm39)	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43,369,634 (GRCm39)	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43,366,770 (GRCm39)	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43,305,774 (GRCm39)	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43,366,057 (GRCm39)	missense	probably benign
R0256:Atp8b5	UTSW	4	43,302,576 (GRCm39)	intron	probably benign
R0379:Atp8b5	UTSW	4	43,361,898 (GRCm39)	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43,291,672 (GRCm39)	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43,305,719 (GRCm39)	intron	probably benign
R1442:Atp8b5	UTSW	4	43,334,313 (GRCm39)	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43,302,590 (GRCm39)	missense	probably benign
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43,344,430 (GRCm39)	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43,355,673 (GRCm39)	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43,372,903 (GRCm39)	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43,372,906 (GRCm39)	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43,361,804 (GRCm39)	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43,357,063 (GRCm39)	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43,369,688 (GRCm39)	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43,370,726 (GRCm39)	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43,361,953 (GRCm39)	splice site	probably benign
R3023:Atp8b5	UTSW	4	43,311,957 (GRCm39)	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43,372,697 (GRCm39)	missense	probably benign
R3690:Atp8b5	UTSW	4	43,368,055 (GRCm39)	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43,365,591 (GRCm39)	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43,357,016 (GRCm39)	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43,365,955 (GRCm39)	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43,372,710 (GRCm39)	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43,308,504 (GRCm39)	makesense	probably null
R4784:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43,344,449 (GRCm39)	missense	probably benign
R5422:Atp8b5	UTSW	4	43,366,644 (GRCm39)	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43,370,577 (GRCm39)	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43,304,674 (GRCm39)	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43,371,003 (GRCm39)	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43,334,249 (GRCm39)	missense	probably benign
R6931:Atp8b5	UTSW	4	43,364,108 (GRCm39)	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43,355,618 (GRCm39)	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43,361,835 (GRCm39)	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43,357,018 (GRCm39)	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43,342,640 (GRCm39)	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43,366,021 (GRCm39)	missense	probably benign
R7465:Atp8b5	UTSW	4	43,271,269 (GRCm39)	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43,366,609 (GRCm39)	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43,370,823 (GRCm39)	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43,366,735 (GRCm39)	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43,342,471 (GRCm39)	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43,356,982 (GRCm39)	nonsense	probably null
R8218:Atp8b5	UTSW	4	43,372,728 (GRCm39)	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43,366,072 (GRCm39)	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43,291,714 (GRCm39)	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43,342,439 (GRCm39)	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43,304,687 (GRCm39)	missense
R8942:Atp8b5	UTSW	4	43,353,658 (GRCm39)	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43,308,493 (GRCm39)	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43,372,630 (GRCm39)	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43,367,960 (GRCm39)	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43,369,658 (GRCm39)	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43,305,798 (GRCm39)	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43,366,774 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43,361,903 (GRCm39)	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43,370,669 (GRCm39)	missense	probably benign	0.12

Posted On

2015-04-16