Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Atp8b4'

239432

Institutional Source

Beutler Lab

Gene Symbol

Atp8b4

Ensembl Gene

ENSMUSG00000060131

Gene Name

ATPase, class I, type 8B, member 4

Synonyms

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126320973-126500674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126375757 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 613 (W613L)

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040128
AA Change: W613L

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

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: W613L

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: W613L

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

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: W613L

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

Meta Mutation Damage Score

0.8021

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACCATTGAAAGAGAACCATGTGC -3'
(R):5'- TTCCCATGTCTGAGGAGGTAC -3'

Sequencing Primer
(F):5'- GAACCATGTGCTATGTGTAAGATG -3'
(R):5'- GAGCCATGACAGCTATGTAATACTC -3'

Posted On

2014-10-15