Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00547:Atp8b4'

13312

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: 0.060) question?

Stock #

IGL00547

Quality Score

Status

Chromosome

Chromosomal Location

126162893-126342589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126200817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 784 (C784R)

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

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

AlphaFold

A2ANX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040128
AA Change: C784R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: C784R

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 damaging
Transcript: ENSMUST00000040149
AA Change: C784R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: C784R

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,076,302 (GRCm39)	Q1345K	possibly damaging	Het
Arhgap40	T	C	2: 158,380,546 (GRCm39)		probably benign	Het
Bicral	T	C	17: 47,136,278 (GRCm39)	I311V	probably benign	Het
Cep290	G	A	10: 100,346,570 (GRCm39)	R551H	probably damaging	Het
Chd9	A	T	8: 91,732,426 (GRCm39)	M842L	probably damaging	Het
Cntn6	A	G	6: 104,627,361 (GRCm39)	N65D	probably damaging	Het
Dnah8	C	T	17: 31,034,677 (GRCm39)	Q4199*	probably null	Het
Ercc3	T	C	18: 32,397,598 (GRCm39)		probably benign	Het
Gm454	T	C	5: 138,205,389 (GRCm39)		noncoding transcript	Het
Gm7073	A	T	X: 59,481,748 (GRCm39)	D204E	probably benign	Het
Myo5a	A	G	9: 75,048,735 (GRCm39)	H286R	probably benign	Het
Nelfb	C	A	2: 25,094,300 (GRCm39)	M354I	possibly damaging	Het
Oas3	C	T	5: 120,915,507 (GRCm39)		probably benign	Het
Phldb2	A	G	16: 45,645,898 (GRCm39)	S228P	probably benign	Het
Pls3	A	T	X: 74,837,874 (GRCm39)	I429N	probably damaging	Het
Ptprq	C	T	10: 107,554,402 (GRCm39)	V108M	probably damaging	Het
Rlf	A	G	4: 121,027,883 (GRCm39)	S138P	possibly damaging	Het
Rpn2	T	C	2: 157,156,833 (GRCm39)	Y479H	probably damaging	Het
Sdr16c5	A	T	4: 4,012,320 (GRCm39)		probably benign	Het
Slco6c1	A	T	1: 97,015,674 (GRCm39)	N372K	probably benign	Het
Stag2	T	C	X: 41,335,892 (GRCm39)	I563T	probably benign	Het
Vrk1	T	C	12: 106,024,840 (GRCm39)	S239P	probably damaging	Het

Other mutations in Atp8b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01898:Atp8b4	APN	2	126,231,281 (GRCm39)	missense	probably benign	0.00
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

2012-12-06