Mutagenetix > Incidental Mutation

Incidental Mutation 'R7206:Atp8b4'

560597

Institutional Source

Beutler Lab

Gene Symbol

Atp8b4

Ensembl Gene

ENSMUSG00000060131

Gene Name

ATPase, class I, type 8B, member 4

Synonyms

MMRRC Submission

045284-MU

Accession Numbers

Essential gene?

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

Stock #

R7206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126162893-126342589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126300212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 106 (S106G)

Ref Sequence

ENSEMBL: ENSMUSP00000047302 (fasta)

Gene Model

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

AlphaFold

A2ANX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040128
AA Change: S106G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: S106G

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: S106G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: S106G

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: ENSMUST00000129187
AA Change: S106G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118651
Gene: ENSMUSG00000060131
AA Change: S106G

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 damaging
Transcript: ENSMUST00000147517
AA Change: S106G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131
AA Change: S106G

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (87/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	G	A	3: 59,932,662 (GRCm39)	M392I	probably benign	Het
Aadacl4fm2	T	A	4: 144,285,211 (GRCm39)	D142V	probably damaging	Het
Acr	T	C	15: 89,458,374 (GRCm39)	S352P	probably benign	Het
Adam6a	T	C	12: 113,509,654 (GRCm39)	C676R	probably damaging	Het
Adgra3	T	C	5: 50,164,238 (GRCm39)	D247G	probably damaging	Het
Agxt2	A	T	15: 10,377,542 (GRCm39)	E147D	probably damaging	Het
Atp2a1	T	C	7: 126,047,144 (GRCm39)	T805A	probably benign	Het
Ccdc170	T	A	10: 4,464,120 (GRCm39)	M87K	possibly damaging	Het
Ccnl2	T	G	4: 155,905,431 (GRCm39)	V287G	possibly damaging	Het
Ccr6	A	T	17: 8,475,781 (GRCm39)	M329L	probably benign	Het
Cflar	G	T	1: 58,780,150 (GRCm39)	M248I		Het
Cib4	A	T	5: 30,703,110 (GRCm39)	L5*	probably null	Het
Col27a1	A	T	4: 63,153,583 (GRCm39)	Y645F	probably benign	Het
Cxcr2	A	G	1: 74,198,213 (GRCm39)	T236A	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,737,792 (GRCm39)	L47*	probably null	Het
Dnajb6	A	C	5: 29,986,335 (GRCm39)	K301T	possibly damaging	Het
Dpf2	T	A	19: 5,954,571 (GRCm39)	I157F	possibly damaging	Het
Drd4	G	A	7: 140,872,032 (GRCm39)	G28R	probably damaging	Het
Dus3l	A	T	17: 57,074,807 (GRCm39)	I310F	probably damaging	Het
Dusp29	A	G	14: 21,727,102 (GRCm39)	V182A	probably damaging	Het
Eef1akmt3	A	G	10: 126,876,862 (GRCm39)	L95P	probably damaging	Het
Fabp7	C	T	10: 57,661,087 (GRCm39)		probably benign	Het
Fam135a	T	C	1: 24,069,354 (GRCm39)	N505S	probably benign	Het
Fam216b	C	A	14: 78,322,567 (GRCm39)	D46Y	probably damaging	Het
Gata6	C	T	18: 11,054,850 (GRCm39)	R260C	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,734,111 (GRCm39)	I1160M	probably benign	Het
Hjv	A	T	3: 96,435,444 (GRCm39)	D234V	probably damaging	Het
Kiss1	A	G	1: 133,255,063 (GRCm39)	K26E	probably benign	Het
Knl1	T	A	2: 118,899,780 (GRCm39)	F494I	probably benign	Het
Ktn1	T	C	14: 47,932,985 (GRCm39)	L713S	probably damaging	Het
Loxhd1	A	G	18: 77,529,513 (GRCm39)	D2052G	probably damaging	Het
Lpo	A	C	11: 87,698,249 (GRCm39)	L582R	probably damaging	Het
Map2k3	A	G	11: 60,834,406 (GRCm39)	T125A		Het
Matn3	T	A	12: 9,011,170 (GRCm39)	N360K	probably benign	Het
Mlip	A	T	9: 77,072,144 (GRCm39)	V237E	probably damaging	Het
Mms22l	T	C	4: 24,591,146 (GRCm39)	V999A	probably benign	Het
Mn1	A	G	5: 111,568,378 (GRCm39)	K783E	possibly damaging	Het
Myo1h	A	T	5: 114,457,836 (GRCm39)	K132*	probably null	Het
Nle1	A	G	11: 82,795,757 (GRCm39)	V230A	probably benign	Het
Or1ak2	T	A	2: 36,827,784 (GRCm39)	Y218N	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,647 (GRCm39)	I44F	probably benign	Het
Or4a68	T	C	2: 89,270,801 (GRCm39)		probably benign	Het
Or4f62	T	G	2: 111,986,804 (GRCm39)	C169W	probably damaging	Het
Or51f23	T	C	7: 102,452,891 (GRCm39)	S69P	probably damaging	Het
Or7e169	C	T	9: 19,757,856 (GRCm39)	D20N	probably damaging	Het
Ormdl2	T	A	10: 128,656,284 (GRCm39)	H7L	possibly damaging	Het
Pam	A	G	1: 97,823,757 (GRCm39)	S225P	probably damaging	Het
Pan2	C	A	10: 128,150,414 (GRCm39)	Y719*	probably null	Het
Ppfia4	T	C	1: 134,255,127 (GRCm39)	S243G	probably benign	Het
Ppig	T	G	2: 69,571,910 (GRCm39)	S210A	unknown	Het
Ppwd1	A	T	13: 104,350,106 (GRCm39)	N426K	probably damaging	Het
Prxl2a	T	A	14: 40,726,142 (GRCm39)	M12L	probably benign	Het
Rnf10	T	G	5: 115,382,180 (GRCm39)	D675A	probably benign	Het
Rrp12	A	T	19: 41,866,478 (GRCm39)	L619H	probably damaging	Het
Rsph10b	C	T	5: 143,898,010 (GRCm39)	T497I	possibly damaging	Het
Scnm1	A	T	3: 95,041,205 (GRCm39)	M1K	probably null	Het
Scp2	G	T	4: 107,931,638 (GRCm39)	D332E	probably benign	Het
Senp3	T	C	11: 69,569,557 (GRCm39)	I314V	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc44a2	T	C	9: 21,258,103 (GRCm39)	F451S	probably damaging	Het
Slfn1	A	T	11: 83,012,837 (GRCm39)	M318L	probably benign	Het
Syne2	C	T	12: 76,051,531 (GRCm39)	S4087L	probably benign	Het
Syt7	A	G	19: 10,395,337 (GRCm39)	Y49C	probably damaging	Het
Tas2r134	T	C	2: 51,518,120 (GRCm39)	Y200H	probably benign	Het
Tgfbr1	A	T	4: 47,402,941 (GRCm39)	H315L	probably damaging	Het
Tmem184c	A	G	8: 78,323,206 (GRCm39)	V552A	possibly damaging	Het
Tnxb	A	G	17: 34,923,075 (GRCm39)	R2553G	possibly damaging	Het
Tomm40	C	G	7: 19,444,861 (GRCm39)	R173S	probably benign	Het
Tonsl	T	C	15: 76,517,851 (GRCm39)	D650G	probably damaging	Het
Tpo	G	C	12: 30,153,133 (GRCm39)	S407W	possibly damaging	Het
Trank1	T	C	9: 111,174,583 (GRCm39)		probably null	Het
Trp53tg5	T	C	2: 164,313,378 (GRCm39)	E99G	probably damaging	Het
Tubb2a	C	A	13: 34,259,505 (GRCm39)	S95I	possibly damaging	Het
Vav2	C	A	2: 27,226,731 (GRCm39)	R114L	probably benign	Het
Vmn1r172	A	T	7: 23,359,582 (GRCm39)	I156L	possibly damaging	Het
Vmn1r238	A	G	18: 3,122,623 (GRCm39)	Y264H	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,727 (GRCm39)	M397K	probably benign	Het
Vmn2r73	T	C	7: 85,522,075 (GRCm39)	N88S	probably benign	Het
Vps13a	T	C	19: 16,731,662 (GRCm39)	N150S	probably damaging	Het
Vps35	A	T	8: 86,014,350 (GRCm39)	Y100N	probably damaging	Het
Vps8	A	C	16: 21,276,171 (GRCm39)	I235L	probably damaging	Het
Yipf2	T	A	9: 21,501,657 (GRCm39)	H157L	probably damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp503	G	T	14: 22,035,553 (GRCm39)	S454R	possibly damaging	Het
Zfp619	C	T	7: 39,184,824 (GRCm39)	R285C	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
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
R8956:Atp8b4	UTSW	2	126,167,327 (GRCm39)	critical splice acceptor site	probably null
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'- CTCCCAAAGAATTTGCTAGGTGTG -3'
(R):5'- ACGTGTATGGGACTCTGCTC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- ACTCTGCTCCAGGTAAGTGCAAG -3'

Posted On

2019-06-26