Mutagenetix > Incidental Mutation

Incidental Mutation 'R8956:Atp8b4'

681988

Institutional Source

Beutler Lab

Gene Symbol

Atp8b4

Ensembl Gene

ENSMUSG00000060131

Gene Name

ATPase, class I, type 8B, member 4

Synonyms

MMRRC Submission

068792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126162893-126342589 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 126167327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

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

AlphaFold

A2ANX3

Predicted Effect

probably benign
Transcript: ENSMUST00000040128

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131

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

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (87/89)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	C	T	7: 78,750,713 (GRCm39)	T1828I	probably benign	Het
Acsf2	A	G	11: 94,461,211 (GRCm39)	S322P	probably benign	Het
Acss2	T	A	2: 155,391,438 (GRCm39)	I170N	probably damaging	Het
Adam22	G	A	5: 8,142,343 (GRCm39)	T814I	probably damaging	Het
Agrn	G	T	4: 156,250,995 (GRCm39)	D1914E	probably damaging	Het
Akap6	T	C	12: 53,187,127 (GRCm39)	S1514P	probably benign	Het
Akap9	T	C	5: 3,998,805 (GRCm39)	L58P	possibly damaging	Het
Apof	A	G	10: 128,105,712 (GRCm39)	I289V	probably benign	Het
Arhgap35	G	A	7: 16,348,404 (GRCm39)		probably benign	Het
Atad3a	A	C	4: 155,838,054 (GRCm39)	F239L	probably damaging	Het
Atf6	T	C	1: 170,621,576 (GRCm39)	T482A	probably damaging	Het
Atg9b	T	C	5: 24,591,850 (GRCm39)		probably benign	Het
B4galt5	T	C	2: 167,143,260 (GRCm39)	Y388C	probably damaging	Het
Bahd1	T	C	2: 118,749,689 (GRCm39)	L495P	probably damaging	Het
Bcl6	T	C	16: 23,793,716 (GRCm39)	E77G	probably damaging	Het
Bst1	C	A	5: 43,982,716 (GRCm39)	S187*	probably null	Het
Car4	A	G	11: 84,855,377 (GRCm39)	N170S	probably null	Het
Cdk14	A	T	5: 5,277,182 (GRCm39)	V131E	probably damaging	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,121 (GRCm39)	R99G	probably damaging	Het
Col9a1	G	A	1: 24,276,300 (GRCm39)	G736D	probably damaging	Het
Copa	T	A	1: 171,937,480 (GRCm39)	V477D	possibly damaging	Het
Coq9	G	A	8: 95,576,886 (GRCm39)	G166D	probably benign	Het
Cttnbp2	A	T	6: 18,434,165 (GRCm39)	N564K	possibly damaging	Het
Dgkq	T	C	5: 108,798,095 (GRCm39)	N721S	probably benign	Het
Dnhd1	A	T	7: 105,341,852 (GRCm39)	Y1217F	probably damaging	Het
Eef1akmt4	G	T	16: 20,437,398 (GRCm39)	E247*	probably null	Het
Elovl7	A	T	13: 108,393,320 (GRCm39)	I18F	probably benign	Het
Eml5	T	C	12: 98,818,952 (GRCm39)	K785E	possibly damaging	Het
Faap100	C	A	11: 120,268,185 (GRCm39)	C196F	probably damaging	Het
Fat2	G	A	11: 55,173,729 (GRCm39)	T2328M	probably damaging	Het
Gcnt2	T	A	13: 41,041,204 (GRCm39)	I121N	probably benign	Het
Gm12253	A	G	11: 58,327,605 (GRCm39)	K152E	probably benign	Het
Gm16440	T	A	14: 17,574,527 (GRCm39)	R167*	probably null	Het
Gm43302	T	A	5: 105,425,602 (GRCm39)	I276F	possibly damaging	Het
Gys2	A	G	6: 142,374,267 (GRCm39)	S593P	probably damaging	Het
H2-M10.4	T	A	17: 36,772,245 (GRCm39)	N168Y	probably benign	Het
Hpca	C	A	4: 129,012,287 (GRCm39)	R83L	probably damaging	Het
Igkv8-28	A	G	6: 70,121,109 (GRCm39)	F13L	probably benign	Het
Il17ra	A	T	6: 120,458,465 (GRCm39)	I539F	probably damaging	Het
Kdm4a	A	G	4: 118,019,013 (GRCm39)	V401A	possibly damaging	Het
Krt86	A	T	15: 101,375,157 (GRCm39)	T351S	probably benign	Het
Lig4	A	G	8: 10,021,378 (GRCm39)	C801R	probably benign	Het
Lrrn4	G	A	2: 132,714,011 (GRCm39)	P312S	probably damaging	Het
Macf1	T	A	4: 123,368,641 (GRCm39)	H2040L	probably benign	Het
Madcam1	A	G	10: 79,502,466 (GRCm39)	K317E	possibly damaging	Het
Maip1	T	C	1: 57,450,961 (GRCm39)	I201T	probably damaging	Het
Map4k4	C	A	1: 40,039,840 (GRCm39)	D513E	probably benign	Het
Mideas	T	A	12: 84,209,102 (GRCm39)	I667L	probably benign	Het
Mpped1	G	A	15: 83,740,469 (GRCm39)	G137R	probably damaging	Het
Mrgprd	T	G	7: 144,875,923 (GRCm39)	F265V	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Mylk	A	G	16: 34,791,779 (GRCm39)	T1484A	probably benign	Het
Nbas	C	T	12: 13,482,923 (GRCm39)	S1400L	possibly damaging	Het
Nedd4	T	A	9: 72,633,708 (GRCm39)	S405T	probably benign	Het
Neil2	A	G	14: 63,429,227 (GRCm39)	V22A	probably damaging	Het
Nrip1	G	C	16: 76,089,193 (GRCm39)	A788G	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or10ab4	A	G	7: 107,655,160 (GRCm39)	T324A	probably benign	Het
Or10d4c	C	T	9: 39,558,496 (GRCm39)	T158I	probably damaging	Het
Or2b7	T	C	13: 21,740,169 (GRCm39)	I8V	probably benign	Het
Or2bd2	G	A	7: 6,442,020 (GRCm39)		probably benign	Het
Or2r2	T	A	6: 42,463,830 (GRCm39)	Q99L	probably damaging	Het
Or6c215	C	T	10: 129,638,222 (GRCm39)	M57I	possibly damaging	Het
Orc2	T	C	1: 58,505,221 (GRCm39)	N478S	probably damaging	Het
Oxct1	A	G	15: 4,064,806 (GRCm39)	E48G	possibly damaging	Het
Pcca	A	G	14: 122,975,324 (GRCm39)	I28V	probably benign	Het
Pcdha8	T	C	18: 37,126,241 (GRCm39)	V241A	probably benign	Het
Pgap6	T	A	17: 26,339,374 (GRCm39)	S563T	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkd2	T	A	5: 104,631,090 (GRCm39)	W505R	probably damaging	Het
Plxnc1	C	T	10: 94,746,448 (GRCm39)	V430I	probably benign	Het
Prkd3	A	G	17: 79,278,883 (GRCm39)	M401T	probably damaging	Het
Rgmb	A	G	17: 16,027,748 (GRCm39)	C324R	probably benign	Het
Rsph6a	A	T	7: 18,799,364 (GRCm39)		probably benign	Het
Sclt1	A	T	3: 41,636,209 (GRCm39)	M264K	probably benign	Het
Serhl	T	A	15: 82,985,899 (GRCm39)	V30D	possibly damaging	Het
Sfrp1	T	C	8: 23,902,159 (GRCm39)	V120A	probably damaging	Het
Slc22a8	C	T	19: 8,587,030 (GRCm39)	Q408*	probably null	Het
Slc35b2	A	G	17: 45,877,673 (GRCm39)	T218A	probably damaging	Het
Slco4c1	A	T	1: 96,765,242 (GRCm39)	F403I	probably damaging	Het
Sorbs1	T	A	19: 40,351,660 (GRCm39)	H250L	probably damaging	Het
Sorcs3	T	A	19: 48,737,810 (GRCm39)	C742*	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tor1aip1	T	A	1: 155,909,582 (GRCm39)		probably benign	Het
Trim9	T	C	12: 70,393,665 (GRCm39)	Q93R	probably damaging	Het
Tsnaxip1	A	G	8: 106,570,813 (GRCm39)	Y613C	probably damaging	Het
Ttc6	C	T	12: 57,775,196 (GRCm39)	Q1631*	probably null	Het
Ubr5	A	G	15: 38,015,367 (GRCm39)	L881P	probably damaging	Het
Upp2	C	T	2: 58,457,454 (GRCm39)		probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn2r116	A	T	17: 23,605,736 (GRCm39)	D216V	probably damaging	Het
Vps52	A	G	17: 34,177,049 (GRCm39)	Q96R	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
IGL00917:Atp8b4	APN	2	126,216,453 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAAATTCCCTTAGTCATTCCTGTGC -3'
(R):5'- ATCAGGTTAGCACTTCCCCG -3'

Sequencing Primer
(F):5'- GGACGTCATTCATGAAAGCC -3'
(R):5'- CGGGCTTTCCTAATCGTGTCAAAG -3'

Posted On

2021-08-31