Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00917:Atp8b4'

26869

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 #

IGL00917

Quality Score

Status

Chromosome

Chromosomal Location

126162893-126342589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126216453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 664 (S664R)

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

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

AlphaFold

A2ANX3

Predicted Effect

probably benign
Transcript: ENSMUST00000040128
AA Change: S664R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: S664R

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: S664R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: S664R

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

noncoding transcript
Transcript: ENSMUST00000134977

Predicted Effect

probably benign
Transcript: ENSMUST00000147517

SMART Domains

Protein: ENSMUSP00000114252
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	1.9e-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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,241,107 (GRCm39)	V26E	probably benign	Het
Adcy4	T	A	14: 56,011,120 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,841,421 (GRCm39)	T766I	possibly damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Cand1	A	C	10: 119,046,841 (GRCm39)	I883S	possibly damaging	Het
Cfap53	A	G	18: 74,432,367 (GRCm39)	D85G	probably benign	Het
Chd4	G	A	6: 125,081,909 (GRCm39)	R514Q	possibly damaging	Het
Cnst	T	C	1: 179,452,557 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,661,453 (GRCm39)		probably benign	Het
Cux2	A	C	5: 122,007,168 (GRCm39)	L831R	probably null	Het
Elf2	T	A	3: 51,215,467 (GRCm39)		probably benign	Het
Frey1	T	A	2: 92,213,563 (GRCm39)	S39T	probably benign	Het
Glp1r	A	G	17: 31,138,443 (GRCm39)		probably benign	Het
Hus1b	A	G	13: 31,131,527 (GRCm39)	M44T	probably benign	Het
Mbd6	A	G	10: 127,119,988 (GRCm39)		probably benign	Het
Med31	T	A	11: 72,102,905 (GRCm39)		probably null	Het
Mmrn1	C	T	6: 60,952,894 (GRCm39)	Q392*	probably null	Het
Mrpl3	T	G	9: 104,934,240 (GRCm39)	V121G	probably damaging	Het
Or10am5	A	G	7: 6,517,577 (GRCm39)	S284P	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Palld	A	G	8: 61,968,969 (GRCm39)	V879A	possibly damaging	Het
Pkn2	G	T	3: 142,559,386 (GRCm39)	D46E	probably damaging	Het
Prkdc	T	A	16: 15,557,428 (GRCm39)	C2244S	probably damaging	Het
Prss50	T	A	9: 110,691,474 (GRCm39)	H259Q	possibly damaging	Het
Rab8b	C	T	9: 66,761,969 (GRCm39)	W102*	probably null	Het
Rad54l2	A	T	9: 106,587,638 (GRCm39)	L709Q	possibly damaging	Het
Rapgef1	T	C	2: 29,592,535 (GRCm39)	V471A	probably benign	Het
Rbms3	A	G	9: 116,939,183 (GRCm39)	S27P	probably damaging	Het
Rpl35a	A	G	16: 32,879,101 (GRCm39)	K73E	possibly damaging	Het
Sugct	A	T	13: 17,032,503 (GRCm39)	Y416*	probably null	Het
Top2b	A	G	14: 16,407,354 (GRCm38)	I713V	probably benign	Het
Unc79	A	T	12: 103,054,766 (GRCm39)	R777S	possibly damaging	Het
Vps37a	T	A	8: 40,993,779 (GRCm39)	M258K	probably benign	Het
Zfp944	G	A	17: 22,558,765 (GRCm39)	L161F	probably benign	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
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

2013-04-17