Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Atp8b5'

37839

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

038481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43366057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 776 (N776S)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107937] [ENSMUST00000107942]

AlphaFold

A3FIN4

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

probably benign
Transcript: ENSMUST00000107942
AA Change: N776S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: N776S

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	104	1.8e-26	PFAM
Pfam:E1-E2_ATPase	103	375	4.9e-9	PFAM
Pfam:HAD	413	847	2e-18	PFAM
Pfam:Cation_ATPase	495	594	1e-9	PFAM
Pfam:PhoLip_ATPase_C	864	1118	2.6e-77	PFAM
low complexity region	1171	1180	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

Allele List at MGI

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 63,898,463 (GRCm38)	Y181D	probably benign	Het
1110034G24Rik	T	C	2: 132,750,639 (GRCm38)	V202A	probably benign	Het
1700029H14Rik	A	G	8: 13,554,715 (GRCm38)	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,938,078 (GRCm38)	D7G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,241 (GRCm38)	Y262H	probably damaging	Het
Acap1	A	G	11: 69,885,426 (GRCm38)	V249A	probably damaging	Het
Acat2	A	T	17: 12,944,021 (GRCm38)	D313E	probably benign	Het
Actn4	T	C	7: 28,905,398 (GRCm38)	T325A	probably benign	Het
Adamdec1	C	T	14: 68,581,958 (GRCm38)		probably null	Het
Adat2	A	G	10: 13,553,293 (GRCm38)	T10A	probably benign	Het
Aff4	T	A	11: 53,397,858 (GRCm38)	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,791,481 (GRCm38)	P104L	possibly damaging	Het
Alox12	G	T	11: 70,242,716 (GRCm38)	T594K	possibly damaging	Het
Als2	C	A	1: 59,215,387 (GRCm38)	K270N	probably benign	Het
Ankhd1	T	A	18: 36,634,734 (GRCm38)	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,634,944 (GRCm38)	I69N	probably damaging	Het
Aox4	G	A	1: 58,213,076 (GRCm38)	V37I	probably benign	Het
Arfgap3	A	G	15: 83,330,513 (GRCm38)		probably benign	Het
Arhgef4	T	A	1: 34,806,999 (GRCm38)		probably null	Het
Asic1	C	T	15: 99,698,617 (GRCm38)		probably benign	Het
Bbs7	A	G	3: 36,605,734 (GRCm38)	I184T	probably benign	Het
Bbs9	A	T	9: 22,514,001 (GRCm38)	H117L	probably damaging	Het
Bnip2	T	C	9: 69,995,505 (GRCm38)	W10R	probably damaging	Het
Brd4	G	T	17: 32,224,123 (GRCm38)	Q175K	probably benign	Het
Bysl	A	T	17: 47,606,896 (GRCm38)	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,346,573 (GRCm38)		probably benign	Het
Cc2d2a	T	C	5: 43,696,638 (GRCm38)		probably benign	Het
Ccdc134	G	T	15: 82,140,946 (GRCm38)	E215D	probably damaging	Het
Celsr3	G	T	9: 108,843,724 (GRCm38)		probably benign	Het
Cntn5	T	A	9: 9,781,775 (GRCm38)	D428V	probably damaging	Het
Cog1	A	G	11: 113,656,995 (GRCm38)		probably benign	Het
Col11a2	G	T	17: 34,062,546 (GRCm38)		probably benign	Het
Cyp4f13	G	A	17: 32,924,969 (GRCm38)		probably benign	Het
D3Ertd254e	A	G	3: 36,165,154 (GRCm38)	H442R	possibly damaging	Het
Dffb	T	A	4: 153,965,378 (GRCm38)	K343*	probably null	Het
Dnah9	T	A	11: 65,911,852 (GRCm38)	I224F	possibly damaging	Het
Dolk	A	T	2: 30,286,019 (GRCm38)	C5S	probably benign	Het
Ebf1	A	T	11: 44,869,088 (GRCm38)		probably benign	Het
Elac1	A	G	18: 73,742,363 (GRCm38)	L199P	probably damaging	Het
Elmod1	A	C	9: 53,935,547 (GRCm38)		probably benign	Het
Ep400	A	C	5: 110,724,407 (GRCm38)		probably benign	Het
F10	A	T	8: 13,048,196 (GRCm38)	N133I	probably damaging	Het
Fasn	A	G	11: 120,815,315 (GRCm38)	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,624,557 (GRCm38)	E12G	probably damaging	Het
Fer	G	T	17: 64,078,946 (GRCm38)	L304F	probably benign	Het
Filip1	A	C	9: 79,819,003 (GRCm38)	L778R	probably damaging	Het
Fli1	A	T	9: 32,423,981 (GRCm38)	I385N	probably benign	Het
Fpgs	A	T	2: 32,692,494 (GRCm38)	L89*	probably null	Het
Gab2	T	G	7: 97,299,241 (GRCm38)	I346R	probably damaging	Het
Gm10764	G	A	10: 87,290,979 (GRCm38)	G83R	unknown	Het
Gpr83	G	T	9: 14,864,842 (GRCm38)	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,403,536 (GRCm38)	L783P	possibly damaging	Het
Gys2	A	G	6: 142,472,668 (GRCm38)		probably benign	Het
Heatr9	C	T	11: 83,513,338 (GRCm38)	V378I	possibly damaging	Het
Helz	A	T	11: 107,637,914 (GRCm38)	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,695,183 (GRCm38)	Q459L	probably damaging	Het
Ints12	T	C	3: 133,109,045 (GRCm38)	S338P	probably benign	Het
Kif13a	T	C	13: 46,791,351 (GRCm38)	T925A	probably benign	Het
Kif1a	C	T	1: 93,042,093 (GRCm38)	V1051I	probably damaging	Het
Kif7	T	A	7: 79,699,560 (GRCm38)	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,850,137 (GRCm38)		probably benign	Het
Krt90	C	T	15: 101,562,675 (GRCm38)	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,936,746 (GRCm38)	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,428,630 (GRCm38)	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,385,944 (GRCm38)	E493G	probably damaging	Het
Matk	T	G	10: 81,258,492 (GRCm38)	L28V	probably benign	Het
Mcc	T	A	18: 44,759,299 (GRCm38)	T83S	probably benign	Het
Mtch1	A	T	17: 29,340,106 (GRCm38)	M204K	possibly damaging	Het
Muc4	T	G	16: 32,765,746 (GRCm38)	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,186,123 (GRCm38)		probably null	Het
Myoz3	T	C	18: 60,578,951 (GRCm38)	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,592,138 (GRCm38)	V196A	probably benign	Het
Nr2f2	G	C	7: 70,360,175 (GRCm38)	P52R	probably damaging	Het
Nup214	T	A	2: 31,998,057 (GRCm38)		probably benign	Het
Olfr1261	T	A	2: 89,993,806 (GRCm38)	F138I	probably benign	Het
Olfr1383	T	C	11: 49,523,912 (GRCm38)	L63P	probably damaging	Het
Olfr169	T	G	16: 19,566,294 (GRCm38)	E196D	probably damaging	Het
Pank3	T	C	11: 35,781,716 (GRCm38)		probably benign	Het
Parm1	A	T	5: 91,594,294 (GRCm38)	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,692,418 (GRCm38)		probably null	Het
Pclo	A	T	5: 14,775,420 (GRCm38)	K4661M	unknown	Het
Pcsk7	A	C	9: 45,916,059 (GRCm38)	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,770,319 (GRCm38)	S784I	possibly damaging	Het
Pex6	T	A	17: 46,723,737 (GRCm38)		probably null	Het
Pi4ka	C	T	16: 17,297,635 (GRCm38)	V1384M	probably benign	Het
Polr3f	T	A	2: 144,536,275 (GRCm38)		probably benign	Het
Ppp2r3a	A	T	9: 101,212,284 (GRCm38)	V280E	probably damaging	Het
Prdm14	C	T	1: 13,122,448 (GRCm38)	G356R	probably damaging	Het
Prepl	A	G	17: 85,065,038 (GRCm38)		probably null	Het
Primpol	T	C	8: 46,599,814 (GRCm38)	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,503,416 (GRCm38)	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,152,225 (GRCm38)	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,719,351 (GRCm38)	D405E	probably damaging	Het
Rbm26	T	C	14: 105,131,938 (GRCm38)	T686A	probably benign	Het
Rint1	A	G	5: 23,816,932 (GRCm38)		probably benign	Het
Rnasek	G	T	11: 70,238,440 (GRCm38)	Y62*	probably null	Het
Rnf17	T	G	14: 56,482,084 (GRCm38)	N930K	possibly damaging	Het
Sap130	A	G	18: 31,680,681 (GRCm38)		probably benign	Het
Sectm1b	T	A	11: 121,055,785 (GRCm38)	I95F	probably damaging	Het
Sema4f	A	T	6: 82,939,466 (GRCm38)	I53N	possibly damaging	Het
Siglec1	T	C	2: 131,085,476 (GRCm38)	T137A	probably damaging	Het
Six5	A	C	7: 19,097,022 (GRCm38)		probably null	Het
Slc22a30	A	T	19: 8,345,357 (GRCm38)	I345N	probably benign	Het
Slc25a27	A	T	17: 43,643,627 (GRCm38)	M316K	probably benign	Het
Slc2a8	A	T	2: 32,980,104 (GRCm38)		probably benign	Het
Snx1	G	A	9: 66,101,326 (GRCm38)		probably benign	Het
Spag17	A	G	3: 100,085,368 (GRCm38)	T1727A	probably benign	Het
Spata20	T	C	11: 94,481,646 (GRCm38)	D633G	probably benign	Het
Spock1	C	T	13: 57,436,109 (GRCm38)		probably null	Het
Sra1	A	T	18: 36,675,706 (GRCm38)	Y291*	probably null	Het
Sspo	C	A	6: 48,493,186 (GRCm38)	P4520T	probably damaging	Het
Stat4	A	G	1: 52,011,857 (GRCm38)	N25S	probably benign	Het
Tbx18	A	T	9: 87,715,516 (GRCm38)		probably benign	Het
Tctex1d2	A	G	16: 32,426,887 (GRCm38)	D118G	probably damaging	Het
Tep1	T	A	14: 50,846,987 (GRCm38)	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,234,123 (GRCm38)	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,246,837 (GRCm38)	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,538,489 (GRCm38)		probably benign	Het
Tnc	G	T	4: 63,970,420 (GRCm38)	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,675,866 (GRCm38)	P281S	probably benign	Het
Trim45	A	G	3: 100,929,844 (GRCm38)	R499G	probably benign	Het
Tulp3	A	T	6: 128,325,958 (GRCm38)	Y299*	probably null	Het
Ube4a	A	T	9: 44,946,178 (GRCm38)		probably benign	Het
Ubr3	T	G	2: 69,951,405 (GRCm38)	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,747,206 (GRCm38)	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,844,402 (GRCm38)	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,687,577 (GRCm38)	V24I	probably benign	Het
Wdr41	C	T	13: 95,017,406 (GRCm38)	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,178,835 (GRCm38)	N44D	probably benign	Het
Wnt7b	C	A	15: 85,558,902 (GRCm38)		probably null	Het
Zfp108	T	C	7: 24,261,783 (GRCm38)	S600P	possibly damaging	Het
Zfp385b	A	G	2: 77,415,728 (GRCm38)		probably null	Het
Zfp395	T	C	14: 65,386,480 (GRCm38)	S133P	probably benign	Het
Zfp407	T	A	18: 84,558,711 (GRCm38)	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,289,127 (GRCm38)	N191T	possibly damaging	Het
Zfp687	T	C	3: 95,011,553 (GRCm38)	S303G	probably damaging	Het
Zfp759	T	A	13: 67,138,813 (GRCm38)	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,615,446 (GRCm38)	E1690Q	probably damaging	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43,355,567 (GRCm38)	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43,311,938 (GRCm38)	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43,302,628 (GRCm38)	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43,368,010 (GRCm38)	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43,291,693 (GRCm38)	missense	probably benign	0.04
IGL01935:Atp8b5	APN	4	43,366,638 (GRCm38)	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43,320,590 (GRCm38)	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43,364,167 (GRCm38)	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43,334,205 (GRCm38)	missense	probably benign
IGL02456:Atp8b5	APN	4	43,365,578 (GRCm38)	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43,369,634 (GRCm38)	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43,366,770 (GRCm38)	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43,305,774 (GRCm38)	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43,369,715 (GRCm38)	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43,369,715 (GRCm38)	critical splice donor site	probably null
R0256:Atp8b5	UTSW	4	43,302,576 (GRCm38)	intron	probably benign
R0379:Atp8b5	UTSW	4	43,361,898 (GRCm38)	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43,291,672 (GRCm38)	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43,305,719 (GRCm38)	intron	probably benign
R1442:Atp8b5	UTSW	4	43,334,313 (GRCm38)	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43,302,590 (GRCm38)	missense	probably benign
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm38)	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm38)	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43,344,430 (GRCm38)	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43,355,673 (GRCm38)	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43,372,903 (GRCm38)	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43,372,906 (GRCm38)	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43,361,804 (GRCm38)	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43,357,063 (GRCm38)	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43,369,688 (GRCm38)	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43,370,726 (GRCm38)	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43,361,953 (GRCm38)	splice site	probably benign
R3023:Atp8b5	UTSW	4	43,311,957 (GRCm38)	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43,372,697 (GRCm38)	missense	probably benign
R3690:Atp8b5	UTSW	4	43,368,055 (GRCm38)	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43,365,591 (GRCm38)	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43,357,016 (GRCm38)	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43,320,629 (GRCm38)	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43,320,629 (GRCm38)	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43,365,955 (GRCm38)	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43,372,710 (GRCm38)	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43,308,504 (GRCm38)	makesense	probably null
R4784:Atp8b5	UTSW	4	43,356,980 (GRCm38)	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43,356,980 (GRCm38)	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43,344,449 (GRCm38)	missense	probably benign
R5422:Atp8b5	UTSW	4	43,366,644 (GRCm38)	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43,370,577 (GRCm38)	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43,304,674 (GRCm38)	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43,371,003 (GRCm38)	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43,334,249 (GRCm38)	missense	probably benign
R6931:Atp8b5	UTSW	4	43,364,108 (GRCm38)	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43,355,618 (GRCm38)	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43,361,835 (GRCm38)	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43,357,018 (GRCm38)	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43,342,640 (GRCm38)	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43,366,021 (GRCm38)	missense	probably benign
R7465:Atp8b5	UTSW	4	43,271,269 (GRCm38)	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43,366,609 (GRCm38)	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43,370,823 (GRCm38)	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43,366,735 (GRCm38)	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43,342,471 (GRCm38)	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43,356,982 (GRCm38)	nonsense	probably null
R8218:Atp8b5	UTSW	4	43,372,728 (GRCm38)	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43,366,072 (GRCm38)	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43,291,714 (GRCm38)	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43,342,439 (GRCm38)	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43,304,687 (GRCm38)	missense
R8942:Atp8b5	UTSW	4	43,353,658 (GRCm38)	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43,308,493 (GRCm38)	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43,372,630 (GRCm38)	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43,367,960 (GRCm38)	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43,369,658 (GRCm38)	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43,305,798 (GRCm38)	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43,366,774 (GRCm38)	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43,361,903 (GRCm38)	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43,370,669 (GRCm38)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GACCTAAAAGACTCAGAGTGTGGGC -3'
(R):5'- AGAGACGACTTTCAGGTAAGGGACC -3'

Sequencing Primer
(F):5'- AGCACAGCCTGCCGTTC -3'
(R):5'- TTCAGGTAAGGGACCCCAGG -3'

Posted On

2013-05-23