Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Atp8b4'

539266

Institutional Source

Beutler Lab

Gene Symbol

Atp8b4

Ensembl Gene

ENSMUSG00000060131

Gene Name

ATPase, class I, type 8B, member 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126320973-126500674 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 126358914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 778 (L778*)

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

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

AlphaFold

A2ANX3

Predicted Effect

probably null
Transcript: ENSMUST00000040128
AA Change: L778*

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: L778*

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: L778*

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: L778*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212	Q183*	probably null	Het
BC024139	G	T	15: 76,120,021	N739K	probably benign	Het
Carns1	T	G	19: 4,169,913	H441P	probably benign	Het
Cfap70	T	A	14: 20,409,085	I693F	probably benign	Het
Cldn3	A	G	5: 134,986,572	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,436,068	I269F	probably damaging	Het
Dapk1	A	T	13: 60,696,442	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397		probably null	Het
Dzip3	T	C	16: 48,942,125	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748	V160F	probably benign	Het
Gak	A	T	5: 108,602,950	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119		probably null	Het
Gm21738	A	G	14: 19,415,933	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256		probably null	Het
Muc4	T	C	16: 32,766,938	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057		probably benign	Het
Olfr1428	A	G	19: 12,109,126	V140A	probably benign	Het
Olfr372	C	A	8: 72,057,730	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945	T18M	probably benign	Het
Per3	T	C	4: 151,043,649	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,106,947	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,947,115	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137	N106D	probably damaging	Het
Rbm15	C	A	3: 107,332,311	R257L	probably benign	Het
Rptor	T	G	11: 119,756,345	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,853,851	V379L	possibly damaging	Het
Sox8	C	T	17: 25,567,914	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031	Y738*	probably null	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
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
R9385:Atp8b4	UTSW	2	126480631	nonsense	probably null
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'- CATTGCATCACAGGCTGAAGC -3'
(R):5'- CCAACAGCTCAGTATTCATGTCTTG -3'

Sequencing Primer
(F):5'- ACTCCATGCGTGCAGTATG -3'
(R):5'- AGCTCAGTATTCATGTCTTGTTACTG -3'

Posted On

2018-11-06