Mutagenetix > Incidental Mutations

Incidental Mutation 'R4818:Atp8b4'

369975

Institutional Source

Beutler Lab

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: 0.063) question?

Stock #

R4818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126320973-126500674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126322816 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1193 (K1193N)

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040128
AA Change: K1193N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: K1193N

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: K1193N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: K1193N

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

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (73/73)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,466	E562G	probably benign	Het
5730522E02Rik	A	G	11: 25,770,472		probably null	Het
A930033H14Rik	A	T	10: 69,212,360		probably benign	Het
Abca17	C	T	17: 24,317,161	E511K	probably damaging	Het
Abca9	C	T	11: 110,155,154		probably null	Het
Abhd5	T	A	9: 122,363,800		probably null	Het
Adra2b	G	A	2: 127,364,092	W171*	probably null	Het
Aldh1l1	T	C	6: 90,596,915	Y799H	probably benign	Het
Arfgef1	A	G	1: 10,216,547	V46A	probably benign	Het
Arhgap40	A	G	2: 158,539,719	E374G	probably damaging	Het
Arhgef5	G	A	6: 43,273,550	V412I	probably benign	Het
Arid3c	T	C	4: 41,730,072	E41G	possibly damaging	Het
C4a	C	T	17: 34,816,999		noncoding transcript	Het
Chst2	C	T	9: 95,405,364	D310N	probably damaging	Het
Crtc3	T	C	7: 80,677,422	Q52R	possibly damaging	Het
Crybg1	T	C	10: 43,998,587	I842V	probably benign	Het
Dennd4c	T	C	4: 86,825,274	S1167P	probably benign	Het
Edem3	T	C	1: 151,792,385	V305A	possibly damaging	Het
Epha10	T	A	4: 124,886,214		probably null	Het
Epha6	C	A	16: 59,654,063	R1117L	probably damaging	Het
Fdx1l	T	C	9: 21,067,864	I144V	possibly damaging	Het
Gm10762	C	T	2: 128,967,186	W81*	probably null	Het
Gm14139	T	A	2: 150,192,061	C132S	probably damaging	Het
Gm4737	G	A	16: 46,154,192	T274I	probably damaging	Het
Hus1	A	G	11: 8,996,808		probably benign	Het
Igbp1b	C	T	6: 138,657,805	E214K	probably benign	Het
Inpp5f	A	G	7: 128,685,129	I577M	probably damaging	Het
Kansl2	G	A	15: 98,526,661	T296I	possibly damaging	Het
Kcna6	A	G	6: 126,738,424	F501L	probably benign	Het
Kirrel2	A	T	7: 30,449,868	V579D	probably benign	Het
Larp1b	T	C	3: 40,970,570	Y208H	probably damaging	Het
Lipf	A	T	19: 33,965,688	D132V	probably benign	Het
Lsm12	T	C	11: 102,167,163	K40E	probably damaging	Het
Mastl	A	G	2: 23,137,026	S275P	probably benign	Het
Mrpl44	A	G	1: 79,780,977	I281V	probably benign	Het
Mtf1	T	A	4: 124,804,712	M1K	probably null	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myh2	G	A	11: 67,176,255	G179R	probably damaging	Het
Nfasc	T	C	1: 132,603,830	T739A	possibly damaging	Het
Nfatc3	G	A	8: 106,108,379	V778I	probably benign	Het
Notch4	A	G	17: 34,578,716		probably benign	Het
Npm2	T	C	14: 70,652,402	N24S	probably benign	Het
Obox7	T	A	7: 14,664,485	L108Q	probably damaging	Het
Olfr615	T	A	7: 103,560,761	F95I	probably benign	Het
Pax3	A	G	1: 78,132,232	V263A	probably damaging	Het
Pdlim1	C	T	19: 40,223,136	V238I	probably damaging	Het
Pik3ip1	G	A	11: 3,330,928		probably benign	Het
Ptprq	A	G	10: 107,710,581	V284A	possibly damaging	Het
Rad9b	G	A	5: 122,339,776	T179I	probably damaging	Het
Rrnad1	C	A	3: 87,924,998	R293L	probably benign	Het
Sirt4	G	T	5: 115,479,726	D290E	possibly damaging	Het
Skint6	T	A	4: 112,955,392		probably benign	Het
Slc18a1	A	C	8: 69,040,299	I466S	probably damaging	Het
Slc35e4	C	T	11: 3,912,889	R100H	probably benign	Het
Sptbn5	T	G	2: 120,067,968	K470Q	probably benign	Het
Tas1r1	C	G	4: 152,032,674	V168L	probably benign	Het
Tmem233	T	A	5: 116,083,163	Q8L	possibly damaging	Het
Ttc17	G	T	2: 94,332,891	Q862K	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp229	T	C	17: 21,743,904	I68T	probably benign	Het
Zfp423	A	G	8: 87,904,500	V30A	probably benign	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
IGL01898:Atp8b4	APN	2	126389361	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGGACAGTGCCCATCTGG -3'
(R):5'- CAGGTCGAGCTCTAGAAGATCTGG -3'

Sequencing Primer
(F):5'- ATCTGGCCTGGAATCCTGCAG -3'
(R):5'- GCTCTAGAAGATCTGGATACGC -3'

Posted On

2016-02-04