Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Atp8b5'

619094

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 43356982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 577 (R577*)

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 null
Transcript: ENSMUST00000107942
AA Change: R577*

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: R577*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	TCC	TCCGCC	6: 96,165,097		probably benign	Het
1700123L14Rik	TCC	TCCCCC	6: 96,165,103		probably benign	Het
2010111I01Rik	G	A	13: 63,068,251	V446I	probably damaging	Het
Abi1	T	C	2: 22,953,543	T297A	probably benign	Het
Acadl	G	T	1: 66,853,178	T162K	probably benign	Het
Aldoart2	A	T	12: 55,565,751	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,832,528	V891E	probably benign	Het
Capn3	G	T	2: 120,486,386	E285D	probably benign	Het
Cd79b	G	T	11: 106,313,700	P87T	probably damaging	Het
Celsr2	T	G	3: 108,412,655	D947A	probably damaging	Het
Csmd3	A	C	15: 47,706,387	S1213R		Het
Cyp2j5	T	C	4: 96,664,004	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019	K49R	probably benign	Het
Dnah10	A	C	5: 124,828,511	E4130A	probably benign	Het
Dst	A	G	1: 34,284,363	D4648G	probably damaging	Het
Ecd	A	G	14: 20,329,952		probably null	Het
Erbin	A	T	13: 103,834,356	Y917*	probably null	Het
Evpl	T	C	11: 116,223,163	K1234E	probably benign	Het
F11r	T	A	1: 171,461,623	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,601,804	T402S	probably benign	Het
Frem2	T	C	3: 53,549,643	N2096S	probably benign	Het
Gm7697	A	T	8: 69,522,752	Y21N	possibly damaging	Het
Gpd2	T	A	2: 57,306,950	Y172*	probably null	Het
Hscb	A	G	5: 110,835,978	V90A	probably benign	Het
Iqgap2	T	C	13: 95,657,879	D1195G	probably damaging	Het
Map2k2	T	C	10: 81,115,066	I115T	probably damaging	Het
Mast2	C	T	4: 116,312,975	R707H	probably damaging	Het
Mindy4	A	G	6: 55,300,992	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,443,743	Y77N	probably damaging	Het
Muc16	G	A	9: 18,659,051	T724I	unknown	Het
Nat3	A	T	8: 67,547,826	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,401,514	S208P	probably damaging	Het
Notch3	A	T	17: 32,146,571	C1056S	probably damaging	Het
Olfr1039	A	T	2: 86,131,377	Y95*	probably null	Het
Olfr146	G	T	9: 39,019,487	T18K	probably damaging	Het
Olfr399	T	A	11: 74,054,475	I95F	probably benign	Het
Olfr71	A	T	4: 43,705,884	V228E	probably damaging	Het
Osbpl3	A	C	6: 50,346,015	L288R	probably damaging	Het
Oscp1	A	C	4: 126,088,323	D352A	possibly damaging	Het
Pcdh9	G	A	14: 93,885,786	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,763,502	S542P	probably benign	Het
Pi4ka	T	C	16: 17,356,166	T490A		Het
Pkd1l1	A	T	11: 8,947,315	D531E		Het
Prr3	G	T	17: 35,979,161	D26E	possibly damaging	Het
Psmd8	T	C	7: 29,180,576	K24E	probably benign	Het
Rasgrp4	G	A	7: 29,149,937	C583Y	probably damaging	Het
Rest	A	G	5: 77,268,324	I128M	probably benign	Het
Rftn1	A	T	17: 50,086,579	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851	F757S	probably benign	Het
Ryr1	A	G	7: 29,083,385	S1942P	probably benign	Het
Sdk2	C	T	11: 113,854,351	R706Q	probably damaging	Het
Sergef	G	T	7: 46,614,638	T275K	probably damaging	Het
Serpina10	T	C	12: 103,628,310	T217A	probably damaging	Het
Shd	G	C	17: 55,976,235	S288T	probably damaging	Het
Siglec15	C	A	18: 78,048,588	A133S	possibly damaging	Het
Stat4	C	T	1: 52,079,773	P325L	probably damaging	Het
Syt8	G	A	7: 142,440,144	G344D	probably damaging	Het
Tes	A	G	6: 17,097,292	E133G	probably benign	Het
Tmprss2	T	C	16: 97,568,416	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,252,106	L365Q	probably damaging	Het
Tns1	T	A	1: 73,953,437	D67V	probably damaging	Het
Tns2	T	C	15: 102,112,845	S982P	probably damaging	Het
Tpcn2	A	T	7: 145,260,946	F473I	probably benign	Het
Tsg101	A	T	7: 46,892,509	I232N	probably damaging	Het
Ttc3	T	C	16: 94,467,989	S1977P	probably benign	Het
Ttll11	T	A	2: 35,979,515	E37V	unknown	Het
Ttn	A	T	2: 76,818,816	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,563,715	S495A	probably benign	Het
Zfp974	A	G	7: 27,911,272	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004	I587N	possibly damaging	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43355567	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43311938	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43302628	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43368010	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43291693	missense	probably benign	0.04
IGL01935:Atp8b5	APN	4	43366638	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43320590	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43364167	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43334205	missense	probably benign
IGL02456:Atp8b5	APN	4	43365578	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43369634	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43366770	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43305774	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43369715	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43369715	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43366057	missense	probably benign
R0256:Atp8b5	UTSW	4	43302576	intron	probably benign
R0379:Atp8b5	UTSW	4	43361898	missense	probably damaging	0.99
R0671:Atp8b5	UTSW	4	43291672	missense	possibly damaging	0.83
R1109:Atp8b5	UTSW	4	43305719	intron	probably benign
R1442:Atp8b5	UTSW	4	43334313	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43302590	missense	probably benign
R1469:Atp8b5	UTSW	4	43291733	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43291733	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43344430	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43355673	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43372903	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43372906	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43361804	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43357063	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43369688	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43370726	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43361953	splice site	probably benign
R3023:Atp8b5	UTSW	4	43311957	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43372697	missense	probably benign
R3690:Atp8b5	UTSW	4	43368055	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43365591	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43357016	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43320629	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43320629	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43365955	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43372710	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43308504	makesense	probably null
R4784:Atp8b5	UTSW	4	43356980	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43356980	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43344449	missense	probably benign
R5422:Atp8b5	UTSW	4	43366644	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43370577	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43304674	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43371003	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43334249	missense	probably benign
R6931:Atp8b5	UTSW	4	43364108	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43355618	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43361835	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43357018	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43342640	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43366021	missense	probably benign
R7465:Atp8b5	UTSW	4	43271269	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43366609	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43370823	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43366735	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43342471	missense	probably damaging	0.99
R8218:Atp8b5	UTSW	4	43372728	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43366072	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43291714	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43342439	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43304687	missense
R8942:Atp8b5	UTSW	4	43353658	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43308493	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43372630	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43367960	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43369658	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43305798	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43366774	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43361903	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43370669	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GTGGAGGATATTGAACTCACAGTAG -3'
(R):5'- GTCCAACTGAAGAAAACTGATGTCAAC -3'

Sequencing Primer
(F):5'- CACAGTAGAATTATTTCTCCATCCAG -3'
(R):5'- CCTACAATAGGGACATTTCTGGTCAC -3'

Posted On

2020-01-23