Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02456:Atp8b5'

294186

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 #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43365578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 731 (T731A)

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: T731A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: T731A

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,584 (GRCm39)	Y174*	probably null	Het
Apc	C	A	18: 34,446,935 (GRCm39)	S1243*	probably null	Het
Bcl2a1c	T	A	9: 114,159,458 (GRCm39)	F79I	probably damaging	Het
Brip1	G	T	11: 85,955,925 (GRCm39)	L863I	possibly damaging	Het
Cbx4	T	A	11: 118,972,938 (GRCm39)	K146*	probably null	Het
Ces1a	C	T	8: 93,766,126 (GRCm39)	V163I	possibly damaging	Het
Ces5a	C	T	8: 94,255,272 (GRCm39)		probably benign	Het
Cfhr1	A	C	1: 139,484,131 (GRCm39)	N128K	possibly damaging	Het
Clcn3	T	C	8: 61,394,391 (GRCm39)	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,068,955 (GRCm39)	I166S	probably benign	Het
Cntnap3	A	T	13: 64,946,872 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,714,739 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,430 (GRCm39)	V626E	probably damaging	Het
Dele1	T	A	18: 38,394,177 (GRCm39)	L458Q	probably damaging	Het
Gcm2	T	C	13: 41,256,477 (GRCm39)	Y424C	probably benign	Het
Gm9964	A	G	11: 79,187,196 (GRCm39)	F84L	probably damaging	Het
Grn	T	A	11: 102,326,930 (GRCm39)	D509E	probably benign	Het
Iho1	G	T	9: 108,283,820 (GRCm39)	T208K	probably benign	Het
Kdm5c	G	A	X: 151,029,314 (GRCm39)	D343N	probably damaging	Het
Ly75	C	T	2: 60,124,125 (GRCm39)	M1717I	probably benign	Het
Map1a	C	A	2: 121,129,134 (GRCm39)	P133T	probably damaging	Het
Mpp2	C	A	11: 101,950,199 (GRCm39)	A552S	possibly damaging	Het
Mtr	T	C	13: 12,213,980 (GRCm39)	I897M	probably damaging	Het
Npas3	A	T	12: 54,095,550 (GRCm39)	I337F	probably damaging	Het
Nup85	T	C	11: 115,472,691 (GRCm39)		probably benign	Het
Or10a49	A	G	7: 108,468,257 (GRCm39)	Y35H	probably benign	Het
Or10al2	T	A	17: 37,983,340 (GRCm39)	M142K	possibly damaging	Het
Or2t46	T	A	11: 58,472,024 (GRCm39)	L118H	possibly damaging	Het
Or51l4	T	A	7: 103,404,700 (GRCm39)	I31F	possibly damaging	Het
Or56a5	T	C	7: 104,792,966 (GRCm39)	N178S	probably damaging	Het
Pdia4	A	T	6: 47,780,429 (GRCm39)	D301E	probably benign	Het
Phf2	C	A	13: 48,982,322 (GRCm39)	G134C	unknown	Het
Polr2h	T	A	16: 20,539,352 (GRCm39)	L76H	probably damaging	Het
Rbm47	G	A	5: 66,184,364 (GRCm39)	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,507,837 (GRCm39)	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,447,179 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,227,991 (GRCm39)	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,101,372 (GRCm39)	H46P	probably damaging	Het
Tbck	A	G	3: 132,440,475 (GRCm39)		probably benign	Het
Tmtc4	A	T	14: 123,163,374 (GRCm39)		probably null	Het
Ttc13	T	C	8: 125,417,100 (GRCm39)		probably null	Het
Ttc17	T	C	2: 94,193,130 (GRCm39)		probably benign	Het
Vmn1r121	T	A	7: 20,832,438 (GRCm39)	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,860,258 (GRCm39)	S2825P	probably damaging	Het
Zan	A	C	5: 137,445,106 (GRCm39)	S1718A	unknown	Het
Zfp39	G	T	11: 58,793,626 (GRCm39)	Y37*	probably null	Het
Zfp407	T	C	18: 84,576,766 (GRCm39)	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,687,035 (GRCm39)	D801E	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
IGL02102:Atp8b5	APN	4	43,364,167 (GRCm39)	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43,334,205 (GRCm39)	missense	probably benign
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