Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01898:Atp8b4'

179452

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp8b4

Ensembl Gene

ENSMUSG00000060131

Gene Name

ATPase, class I, type 8B, member 4

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

126320973-126500674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126389361 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 431 (N431S)

Ref Sequence

ENSEMBL: ENSMUSP00000114252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040128] [ENSMUST00000040149] [ENSMUST00000129187] [ENSMUST00000147517]

Predicted Effect

probably benign
Transcript: ENSMUST00000040128
AA Change: T447A

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

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: T447A

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	15	81	3.4e-30	PFAM
Pfam:E1-E2_ATPase	81	352	5.1e-8	PFAM
Pfam:HAD	390	826	1.1e-18	PFAM
Pfam:Cation_ATPase	474	573	5.5e-10	PFAM
Pfam:PhoLip_ATPase_C	843	1097	1.6e-83	PFAM
low complexity region	1113	1130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040149
AA Change: T447A

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

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: T447A

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	15	81	3.4e-30	PFAM
Pfam:E1-E2_ATPase	81	352	5.1e-8	PFAM
Pfam:HAD	390	826	1.1e-18	PFAM
Pfam:Cation_ATPase	474	573	5.5e-10	PFAM
Pfam:PhoLip_ATPase_C	843	1097	1.6e-83	PFAM
low complexity region	1113	1130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129187

SMART Domains

Protein: ENSMUSP00000118651
Gene: ENSMUSG00000060131

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Blast:CUB	32	67	2e-7	BLAST
Pfam:E1-E2_ATPase	84	355	1.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134977

Predicted Effect

probably benign
Transcript: ENSMUST00000147517
AA Change: N431S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131
AA Change: N431S

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Blast:CUB	32	67	2e-7	BLAST
Pfam:E1-E2_ATPase	84	355	1.9e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	T	2: 154,552,713	D195V	probably damaging	Het
Aqp11	A	G	7: 97,726,663	W260R	probably benign	Het
Atp8a2	T	C	14: 60,023,513	T390A	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Ccdc110	T	G	8: 45,942,124	S351A	possibly damaging	Het
Cntnap4	T	C	8: 112,856,307	F1006L	possibly damaging	Het
Ddr2	A	G	1: 169,998,156	F292L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,890,216	Q97*	probably null	Het
Fam171a2	T	C	11: 102,439,756	T267A	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Igkv5-45	T	A	6: 69,775,892	K69*	probably null	Het
Mios	T	C	6: 8,222,668	I534T	probably benign	Het
Nus1	A	G	10: 52,430,067	D185G	probably benign	Het
Proc	A	G	18: 32,133,145		probably null	Het
Psma3	T	A	12: 70,984,674	H36Q	probably benign	Het
Sh3rf3	G	T	10: 59,049,530	A412S	probably damaging	Het
Smgc	A	T	15: 91,844,524		probably null	Het
Spta1	T	A	1: 174,213,862	S1297R	probably benign	Het
Steap3	T	C	1: 120,241,574	D293G	probably benign	Het
Tbx18	A	T	9: 87,707,859	M342K	possibly damaging	Het
Trip11	T	C	12: 101,885,676	M425V	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Atp8b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Atp8b4	APN	2	126358897	missense	probably damaging	1.00
IGL00841:Atp8b4	APN	2	126383769	missense	probably damaging	0.97
IGL00917:Atp8b4	APN	2	126374533	missense	probably benign	0.00
IGL01013:Atp8b4	APN	2	126323087	missense	probably benign	0.25
IGL01374:Atp8b4	APN	2	126383657	splice site	probably benign
IGL01927:Atp8b4	APN	2	126322976	missense	probably damaging	0.99
IGL01971:Atp8b4	APN	2	126462616	missense	probably benign	0.05
R0320:Atp8b4	UTSW	2	126459694	missense	possibly damaging	0.55
R0441:Atp8b4	UTSW	2	126378706	splice site	probably benign
R0526:Atp8b4	UTSW	2	126427363	missense	probably damaging	1.00
R0765:Atp8b4	UTSW	2	126372150	splice site	probably null
R0964:Atp8b4	UTSW	2	126337493	missense	probably damaging	1.00
R1386:Atp8b4	UTSW	2	126378744	missense	probably benign	0.00
R1401:Atp8b4	UTSW	2	126323093	critical splice acceptor site	probably null
R1568:Atp8b4	UTSW	2	126325394	missense	probably benign
R1792:Atp8b4	UTSW	2	126325294	missense	probably benign
R1830:Atp8b4	UTSW	2	126403381	missense	probably benign	0.03
R1839:Atp8b4	UTSW	2	126361782	missense	possibly damaging	0.92
R1984:Atp8b4	UTSW	2	126323008	missense	probably damaging	1.00
R2143:Atp8b4	UTSW	2	126374510	missense	probably damaging	1.00
R2186:Atp8b4	UTSW	2	126358860	missense	probably damaging	1.00
R2212:Atp8b4	UTSW	2	126375757	missense	probably damaging	1.00
R2473:Atp8b4	UTSW	2	126358894	missense	possibly damaging	0.67
R3412:Atp8b4	UTSW	2	126375757	missense	probably damaging	1.00
R3414:Atp8b4	UTSW	2	126375757	missense	probably damaging	1.00
R4519:Atp8b4	UTSW	2	126414459	splice site	probably null
R4543:Atp8b4	UTSW	2	126358066	missense	probably damaging	0.97
R4701:Atp8b4	UTSW	2	126414293	missense	probably damaging	1.00
R4818:Atp8b4	UTSW	2	126322816	missense	probably benign	0.01
R4895:Atp8b4	UTSW	2	126414369	missense	probably benign	0.23
R5213:Atp8b4	UTSW	2	126389409	splice site	probably null
R5239:Atp8b4	UTSW	2	126392861	splice site	probably null
R5241:Atp8b4	UTSW	2	126383726	missense	probably benign
R5654:Atp8b4	UTSW	2	126375805	missense	probably damaging	1.00
R5725:Atp8b4	UTSW	2	126433936	missense	probably benign
R5771:Atp8b4	UTSW	2	126378744	missense	probably benign	0.11
R5949:Atp8b4	UTSW	2	126405322	missense	probably benign	0.02
R5993:Atp8b4	UTSW	2	126403234	missense	probably benign
R5998:Atp8b4	UTSW	2	126433867	splice site	probably null
R6550:Atp8b4	UTSW	2	126424193	missense	probably damaging	1.00
R6575:Atp8b4	UTSW	2	126414364	missense	probably damaging	1.00
R6892:Atp8b4	UTSW	2	126343002	missense	possibly damaging	0.94
R6915:Atp8b4	UTSW	2	126358914	nonsense	probably null
R7045:Atp8b4	UTSW	2	126372195	missense	probably benign	0.00
R7206:Atp8b4	UTSW	2	126458292	missense	probably damaging	0.99
R7349:Atp8b4	UTSW	2	126325345	missense	probably benign	0.00
R7395:Atp8b4	UTSW	2	126375694	missense	possibly damaging	0.76
R7429:Atp8b4	UTSW	2	126403371	missense	possibly damaging	0.47
R7430:Atp8b4	UTSW	2	126403371	missense	possibly damaging	0.47
R7548:Atp8b4	UTSW	2	126389342	missense	probably benign
R7724:Atp8b4	UTSW	2	126322893	missense	possibly damaging	0.87
Z1176:Atp8b4	UTSW	2	126414429	missense	possibly damaging	0.62
Z1177:Atp8b4	UTSW	2	126322824	missense	probably benign	0.06
Z1177:Atp8b4	UTSW	2	126433943	missense	probably damaging	0.99

Posted On

2014-05-07