Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:Atp8b5'

361217

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 #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43366770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 845 (M845V)

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 damaging
Transcript: ENSMUST00000107942
AA Change: M845V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: M845V

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
A3galt2	T	C	4: 128,655,302 (GRCm39)		probably benign	Het
Alk	C	T	17: 72,176,531 (GRCm39)	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,118,327 (GRCm39)	S34P	probably benign	Het
Atp2a2	A	G	5: 122,627,354 (GRCm39)	V137A	probably benign	Het
Camk1d	A	G	2: 5,570,571 (GRCm39)	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,616,535 (GRCm39)	T193I	probably benign	Het
Cfap298	A	C	16: 90,722,950 (GRCm39)	D261E	probably benign	Het
Chst15	T	A	7: 131,868,475 (GRCm39)	D315V	probably damaging	Het
Cux1	G	T	5: 136,336,857 (GRCm39)	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,076,307 (GRCm39)	E88K	possibly damaging	Het
Dido1	A	G	2: 180,325,751 (GRCm39)	V479A	probably benign	Het
Dlc1	G	T	8: 37,037,429 (GRCm39)		probably benign	Het
H2-Ab1	G	A	17: 34,483,885 (GRCm39)	R82Q	probably damaging	Het
Hps6	T	A	19: 45,994,480 (GRCm39)	*806K	probably null	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Kdm1b	C	A	13: 47,233,943 (GRCm39)	T759K	probably damaging	Het
Kirrel1	C	A	3: 86,995,792 (GRCm39)	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,276,569 (GRCm39)	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,878,805 (GRCm39)	Y100H	probably damaging	Het
Mastl	T	C	2: 23,035,421 (GRCm39)	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,991,630 (GRCm39)	E1576G	probably damaging	Het
Nek3	A	T	8: 22,650,384 (GRCm39)		probably null	Het
Nipal3	G	T	4: 135,195,861 (GRCm39)	Y247*	probably null	Het
Nt5e	A	C	9: 88,237,758 (GRCm39)	K229N	probably damaging	Het
Opa1	A	G	16: 29,429,705 (GRCm39)	M290V	probably null	Het
Or2a14	A	G	6: 43,130,511 (GRCm39)	I91V	possibly damaging	Het
Or8d6	G	T	9: 39,854,254 (GRCm39)	G233C	probably damaging	Het
Parp2	T	A	14: 51,052,872 (GRCm39)	I155K	probably benign	Het
Pde4dip	G	T	3: 97,674,403 (GRCm39)	A171E	probably damaging	Het
Prom2	C	T	2: 127,373,036 (GRCm39)	E678K	probably benign	Het
Rab12	A	G	17: 66,805,111 (GRCm39)		probably benign	Het
Rgs8	A	T	1: 153,546,545 (GRCm39)	T13S	probably damaging	Het
Setd3	A	G	12: 108,078,383 (GRCm39)		probably benign	Het
Shisal1	A	G	15: 84,304,330 (GRCm39)		probably benign	Het
Slx4ip	G	A	2: 136,846,893 (GRCm39)	V53I	probably damaging	Het
Stil	A	G	4: 114,881,295 (GRCm39)	D613G	probably benign	Het
Tektip1	A	G	10: 81,200,570 (GRCm39)		probably benign	Het
Tjp3	T	A	10: 81,109,523 (GRCm39)	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632 (GRCm39)	*236W	probably null	Het
Ttbk1	A	G	17: 46,781,586 (GRCm39)	V389A	probably benign	Het
Wdfy4	A	G	14: 32,693,707 (GRCm39)	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,866,877 (GRCm39)	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,236,809 (GRCm39)	S428G	probably benign	Het
Zfp286	T	C	11: 62,678,786 (GRCm39)	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,709,680 (GRCm39)	K468E	probably 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
IGL02102:Atp8b5	APN	4	43,364,167 (GRCm39)	missense	probably benign	0.10
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
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

2015-12-18