Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Atp8b4'

710238

Institutional Source

Beutler Lab

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: 0.078) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126320973-126500674 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 126480631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 29 (Y29*)

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040128] [ENSMUST00000040149] [ENSMUST00000129187] [ENSMUST00000147517]

AlphaFold

A2ANX3

Predicted Effect

probably null
Transcript: ENSMUST00000040128
AA Change: Y29*

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: Y29*

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 null
Transcript: ENSMUST00000040149
AA Change: Y29*

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: Y29*

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 null
Transcript: ENSMUST00000129187
AA Change: Y29*

SMART Domains

Protein: ENSMUSP00000118651
Gene: ENSMUSG00000060131
AA Change: Y29*

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

probably null
Transcript: ENSMUST00000147517
AA Change: Y29*

SMART Domains

Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131
AA Change: Y29*

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	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
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
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
R8770:Atp8b4	UTSW	2	126342995	missense	probably damaging	1.00
R8793:Atp8b4	UTSW	2	126389334	missense	probably benign
R8816:Atp8b4	UTSW	2	126372164	critical splice donor site	probably benign
R8956:Atp8b4	UTSW	2	126325407	critical splice acceptor site	probably null
R9017:Atp8b4	UTSW	2	126433921	missense	probably benign	0.13
R9026:Atp8b4	UTSW	2	126342963	missense	probably benign	0.34
R9128:Atp8b4	UTSW	2	126392830	missense	probably benign
R9190:Atp8b4	UTSW	2	126383687	missense	probably damaging	0.96
R9367:Atp8b4	UTSW	2	126374510	missense	probably damaging	0.99
Z1176:Atp8b4	UTSW	2	126414429	missense	possibly damaging	0.62
Z1177:Atp8b4	UTSW	2	126322824	missense	probably benign	0.06
Z1177:Atp8b4	UTSW	2	126433943	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGCACACGGAGTTGTTAAAG -3'
(R):5'- AACTGGTTTGCAACATTCAGG -3'

Sequencing Primer
(F):5'- CACACGGAGTTGTTAAAGCAGAG -3'
(R):5'- GGTTGAACAGAAACCTACGC -3'

Posted On

2022-04-18