Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01657:Atp8b5'

103051

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: 0.066) question?

Stock #

IGL01657

Quality Score

Status

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43291693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 22 (M22T)

Ref Sequence

ENSEMBL: ENSMUSP00000103570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102953] [ENSMUST00000107937] [ENSMUST00000107942] [ENSMUST00000136262]

AlphaFold

A3FIN4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000056010

Predicted Effect

probably benign
Transcript: ENSMUST00000102953
AA Change: M22T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
AA Change: M22T

Domain	Start	End	E-Value	Type
coiled coil region	20	49	N/A	INTRINSIC
Blast:CUB	55	90	1e-6	BLAST
Pfam:E1-E2_ATPase	107	305	4.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107937
AA Change: M22T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000107942
AA Change: M22T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: M22T

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

Predicted Effect

unknown
Transcript: ENSMUST00000136262
AA Change: M22T

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,826,493	F90L	probably benign	Het
Anapc4	T	A	5: 52,864,626	Y683*	probably null	Het
Astn2	T	G	4: 65,651,949	D773A	probably damaging	Het
Atp2b3	T	C	X: 73,545,360		probably benign	Het
Birc6	T	A	17: 74,660,611	L4169H	probably damaging	Het
Cdc42bpa	T	C	1: 180,111,866	V81A	probably benign	Het
Clcn2	A	T	16: 20,713,619	C80S	probably damaging	Het
Clu	C	T	14: 65,979,672	A318V	possibly damaging	Het
Csnk1g2	A	G	10: 80,639,629	H378R	probably benign	Het
Decr2	T	A	17: 26,082,952	D268V	probably damaging	Het
Dpp3	T	C	19: 4,918,304	T247A	possibly damaging	Het
Eif4g1	A	G	16: 20,682,216	N774D	possibly damaging	Het
Epha4	A	T	1: 77,426,838	V344E	probably damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ggcx	T	A	6: 72,429,958		probably null	Het
Gm1965	C	T	6: 89,146,666		noncoding transcript	Het
Gmnn	T	C	13: 24,753,704	E101G	probably damaging	Het
Grik2	C	T	10: 49,527,986		probably null	Het
H2-M11	T	A	17: 36,547,573	D86E	probably benign	Het
Il6st	T	A	13: 112,481,543	W164R	probably damaging	Het
Ilvbl	G	T	10: 78,576,768	V108L	possibly damaging	Het
Klk10	A	G	7: 43,781,589	K19E	possibly damaging	Het
Mbd4	G	T	6: 115,849,637	T131N	probably damaging	Het
Ncapd3	T	C	9: 27,071,824	V956A	possibly damaging	Het
Nif3l1	A	C	1: 58,455,612	T247P	probably damaging	Het
Nrcam	T	C	12: 44,559,800	V443A	probably damaging	Het
Olfr1260	A	G	2: 89,977,877	Y33C	probably damaging	Het
Pigk	T	A	3: 152,722,520	H61Q	probably damaging	Het
Pla2g4d	C	A	2: 120,275,287	V431F	possibly damaging	Het
Pxt1	A	T	17: 28,934,804	H18Q	possibly damaging	Het
Rpusd4	T	C	9: 35,273,461		probably benign	Het
Slc22a18	T	G	7: 143,499,100	L354R	probably damaging	Het
Slc26a10	A	G	10: 127,175,034	V443A	probably damaging	Het
Smpx	A	G	X: 157,714,680		probably benign	Het
Sptan1	A	G	2: 30,018,479	S1751G	probably benign	Het
Ush2a	C	T	1: 188,826,461	T3629I	probably benign	Het
Vcan	C	T	13: 89,690,586	V2280M	probably damaging	Het
Vmn1r30	T	C	6: 58,435,634	E71G	probably benign	Het
Vmn2r100	A	T	17: 19,525,916	I446F	possibly damaging	Het
Vmn2r75	A	T	7: 86,164,247	V449D	probably damaging	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43355567	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43311938	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43302628	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43368010	missense	possibly damaging	0.90
IGL01935:Atp8b5	APN	4	43366638	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43320590	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43364167	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43334205	missense	probably benign
IGL02456:Atp8b5	APN	4	43365578	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43369634	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43366770	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43305774	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43369715	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43369715	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43366057	missense	probably benign
R0256:Atp8b5	UTSW	4	43302576	intron	probably benign
R0379:Atp8b5	UTSW	4	43361898	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43291672	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43305719	intron	probably benign
R1442:Atp8b5	UTSW	4	43334313	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43302590	missense	probably benign
R1469:Atp8b5	UTSW	4	43291733	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43291733	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43344430	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43355673	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43372903	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43372906	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43361804	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43357063	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43369688	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43370726	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43361953	splice site	probably benign
R3023:Atp8b5	UTSW	4	43311957	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43372697	missense	probably benign
R3690:Atp8b5	UTSW	4	43368055	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43365591	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43357016	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43320629	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43320629	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43365955	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43372710	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43308504	makesense	probably null
R4784:Atp8b5	UTSW	4	43356980	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43356980	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43344449	missense	probably benign
R5422:Atp8b5	UTSW	4	43366644	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43370577	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43304674	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43371003	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43334249	missense	probably benign
R6931:Atp8b5	UTSW	4	43364108	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43355618	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43361835	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43357018	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43342640	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43366021	missense	probably benign
R7465:Atp8b5	UTSW	4	43271269	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43366609	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43370823	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43366735	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43342471	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43356982	nonsense	probably null
R8218:Atp8b5	UTSW	4	43372728	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43366072	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43291714	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43342439	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43304687	missense
R8942:Atp8b5	UTSW	4	43353658	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43308493	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43372630	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43367960	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43369658	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43305798	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43366774	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43361903	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43370669	missense	probably benign	0.12

Posted On

2014-01-21