Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

126162893-126342589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126231281 bp (GRCm39)

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]

AlphaFold

A2ANX3

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: 154,394,633 (GRCm39)	D195V	probably damaging	Het
Aqp11	A	G	7: 97,375,870 (GRCm39)	W260R	probably benign	Het
Atp8a2	T	C	14: 60,260,962 (GRCm39)	T390A	probably damaging	Het
Ccdc110	T	G	8: 46,395,161 (GRCm39)	S351A	possibly damaging	Het
Cntnap4	T	C	8: 113,582,939 (GRCm39)	F1006L	possibly damaging	Het
Ddr2	A	G	1: 169,825,725 (GRCm39)	F292L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,797,637 (GRCm39)	Q97*	probably null	Het
Fam171a2	T	C	11: 102,330,582 (GRCm39)	T267A	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Igkv5-43	T	A	6: 69,752,876 (GRCm39)	K69*	probably null	Het
Mios	T	C	6: 8,222,668 (GRCm39)	I534T	probably benign	Het
Nus1	A	G	10: 52,306,163 (GRCm39)	D185G	probably benign	Het
Proc	A	G	18: 32,266,198 (GRCm39)		probably null	Het
Psma3	T	A	12: 71,031,448 (GRCm39)	H36Q	probably benign	Het
Sh3rf3	G	T	10: 58,885,352 (GRCm39)	A412S	probably damaging	Het
Smgc	A	T	15: 91,728,727 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,041,428 (GRCm39)	S1297R	probably benign	Het
Steap3	T	C	1: 120,169,304 (GRCm39)	D293G	probably benign	Het
Tbx18	A	T	9: 87,589,912 (GRCm39)	M342K	possibly damaging	Het
Trip11	T	C	12: 101,851,935 (GRCm39)	M425V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Atp8b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Atp8b4	APN	2	126,200,817 (GRCm39)	missense	probably damaging	1.00
IGL00841:Atp8b4	APN	2	126,225,689 (GRCm39)	missense	probably damaging	0.97
IGL00917:Atp8b4	APN	2	126,216,453 (GRCm39)	missense	probably benign	0.00
IGL01013:Atp8b4	APN	2	126,165,007 (GRCm39)	missense	probably benign	0.25
IGL01374:Atp8b4	APN	2	126,225,577 (GRCm39)	splice site	probably benign
IGL01927:Atp8b4	APN	2	126,164,896 (GRCm39)	missense	probably damaging	0.99
IGL01971:Atp8b4	APN	2	126,304,536 (GRCm39)	missense	probably benign	0.05
R0320:Atp8b4	UTSW	2	126,301,614 (GRCm39)	missense	possibly damaging	0.55
R0441:Atp8b4	UTSW	2	126,220,626 (GRCm39)	splice site	probably benign
R0526:Atp8b4	UTSW	2	126,269,283 (GRCm39)	missense	probably damaging	1.00
R0765:Atp8b4	UTSW	2	126,214,070 (GRCm39)	splice site	probably null
R0964:Atp8b4	UTSW	2	126,179,413 (GRCm39)	missense	probably damaging	1.00
R1386:Atp8b4	UTSW	2	126,220,664 (GRCm39)	missense	probably benign	0.00
R1401:Atp8b4	UTSW	2	126,165,013 (GRCm39)	critical splice acceptor site	probably null
R1568:Atp8b4	UTSW	2	126,167,314 (GRCm39)	missense	probably benign
R1792:Atp8b4	UTSW	2	126,167,214 (GRCm39)	missense	probably benign
R1830:Atp8b4	UTSW	2	126,245,301 (GRCm39)	missense	probably benign	0.03
R1839:Atp8b4	UTSW	2	126,203,702 (GRCm39)	missense	possibly damaging	0.92
R1984:Atp8b4	UTSW	2	126,164,928 (GRCm39)	missense	probably damaging	1.00
R2143:Atp8b4	UTSW	2	126,216,430 (GRCm39)	missense	probably damaging	1.00
R2186:Atp8b4	UTSW	2	126,200,780 (GRCm39)	missense	probably damaging	1.00
R2212:Atp8b4	UTSW	2	126,217,677 (GRCm39)	missense	probably damaging	1.00
R2473:Atp8b4	UTSW	2	126,200,814 (GRCm39)	missense	possibly damaging	0.67
R3412:Atp8b4	UTSW	2	126,217,677 (GRCm39)	missense	probably damaging	1.00
R3414:Atp8b4	UTSW	2	126,217,677 (GRCm39)	missense	probably damaging	1.00
R4519:Atp8b4	UTSW	2	126,256,379 (GRCm39)	splice site	probably null
R4543:Atp8b4	UTSW	2	126,199,986 (GRCm39)	missense	probably damaging	0.97
R4701:Atp8b4	UTSW	2	126,256,213 (GRCm39)	missense	probably damaging	1.00
R4818:Atp8b4	UTSW	2	126,164,736 (GRCm39)	missense	probably benign	0.01
R4895:Atp8b4	UTSW	2	126,256,289 (GRCm39)	missense	probably benign	0.23
R5213:Atp8b4	UTSW	2	126,231,329 (GRCm39)	splice site	probably null
R5239:Atp8b4	UTSW	2	126,234,781 (GRCm39)	splice site	probably null
R5241:Atp8b4	UTSW	2	126,225,646 (GRCm39)	missense	probably benign
R5654:Atp8b4	UTSW	2	126,217,725 (GRCm39)	missense	probably damaging	1.00
R5725:Atp8b4	UTSW	2	126,275,856 (GRCm39)	missense	probably benign
R5771:Atp8b4	UTSW	2	126,220,664 (GRCm39)	missense	probably benign	0.11
R5949:Atp8b4	UTSW	2	126,247,242 (GRCm39)	missense	probably benign	0.02
R5993:Atp8b4	UTSW	2	126,245,154 (GRCm39)	missense	probably benign
R5998:Atp8b4	UTSW	2	126,275,787 (GRCm39)	splice site	probably null
R6550:Atp8b4	UTSW	2	126,266,113 (GRCm39)	missense	probably damaging	1.00
R6575:Atp8b4	UTSW	2	126,256,284 (GRCm39)	missense	probably damaging	1.00
R6892:Atp8b4	UTSW	2	126,184,922 (GRCm39)	missense	possibly damaging	0.94
R6915:Atp8b4	UTSW	2	126,200,834 (GRCm39)	nonsense	probably null
R7045:Atp8b4	UTSW	2	126,214,115 (GRCm39)	missense	probably benign	0.00
R7206:Atp8b4	UTSW	2	126,300,212 (GRCm39)	missense	probably damaging	0.99
R7349:Atp8b4	UTSW	2	126,167,265 (GRCm39)	missense	probably benign	0.00
R7395:Atp8b4	UTSW	2	126,217,614 (GRCm39)	missense	possibly damaging	0.76
R7429:Atp8b4	UTSW	2	126,245,291 (GRCm39)	missense	possibly damaging	0.47
R7430:Atp8b4	UTSW	2	126,245,291 (GRCm39)	missense	possibly damaging	0.47
R7548:Atp8b4	UTSW	2	126,231,262 (GRCm39)	missense	probably benign
R7724:Atp8b4	UTSW	2	126,164,813 (GRCm39)	missense	possibly damaging	0.87
R8770:Atp8b4	UTSW	2	126,184,915 (GRCm39)	missense	probably damaging	1.00
R8793:Atp8b4	UTSW	2	126,231,254 (GRCm39)	missense	probably benign
R8816:Atp8b4	UTSW	2	126,214,084 (GRCm39)	critical splice donor site	probably benign
R8956:Atp8b4	UTSW	2	126,167,327 (GRCm39)	critical splice acceptor site	probably null
R9017:Atp8b4	UTSW	2	126,275,841 (GRCm39)	missense	probably benign	0.13
R9026:Atp8b4	UTSW	2	126,184,883 (GRCm39)	missense	probably benign	0.34
R9128:Atp8b4	UTSW	2	126,234,750 (GRCm39)	missense	probably benign
R9190:Atp8b4	UTSW	2	126,225,607 (GRCm39)	missense	probably damaging	0.96
R9367:Atp8b4	UTSW	2	126,216,430 (GRCm39)	missense	probably damaging	0.99
R9385:Atp8b4	UTSW	2	126,322,551 (GRCm39)	nonsense	probably null
Z1176:Atp8b4	UTSW	2	126,256,349 (GRCm39)	missense	possibly damaging	0.62
Z1177:Atp8b4	UTSW	2	126,275,863 (GRCm39)	missense	probably damaging	0.99
Z1177:Atp8b4	UTSW	2	126,164,744 (GRCm39)	missense	probably benign	0.06

Posted On

2014-05-07