Mutagenetix > Incidental Mutations

Incidental Mutation 'R8248:Atp8b5'

640365

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8248 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43366072 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 781 (I781N)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

probably damaging
Transcript: ENSMUST00000107942
AA Change: I781N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: I781N

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,883,806	D24G	noncoding transcript	Het
Adam32	A	G	8: 24,901,470	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,797,564	G238R	probably damaging	Het
Ahi1	T	A	10: 20,972,092	D466E	probably benign	Het
Ahnak	T	A	19: 9,001,946	V198E	probably damaging	Het
Ank2	T	A	3: 126,937,785	H658L	possibly damaging	Het
Atp2b4	TTCTTC	TTCTTCGTCTTC	1: 133,701,718		probably benign	Het
Atp2b4	TCTTCT	TCTTCTCCTTCT	1: 133,701,743		probably benign	Het
Bloc1s6	A	T	2: 122,742,645	R47*	probably null	Het
Clk2	G	A	3: 89,173,504	V266M	probably damaging	Het
Cul9	A	C	17: 46,530,014	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,522,926	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,479,598		probably benign	Het
Dnajb2	T	G	1: 75,243,582	D248E		Het
Dpy19l1	T	C	9: 24,502,895	H79R	probably benign	Het
Elmo1	T	C	13: 20,600,201	S643P	probably damaging	Het
Evi5	A	G	5: 107,818,887		probably null	Het
Fam76b	T	C	9: 13,831,102	C110R	probably damaging	Het
Galnt7	T	A	8: 57,538,188	K429N	probably benign	Het
Gm10142	T	A	10: 77,716,116	C104S	probably damaging	Het
Gm7298	A	C	6: 121,787,443	H1427P	probably benign	Het
Golga7b	A	T	19: 42,266,871	I87F	probably damaging	Het
Gpr165	C	A	X: 96,714,017	D7E	probably benign	Het
Gpr25	C	A	1: 136,260,677	R66L	probably benign	Het
H2-Q2	A	G	17: 35,344,865	N241D	probably benign	Het
Il1a	T	C	2: 129,302,961	D179G	probably benign	Het
Itch	T	C	2: 155,206,383		probably null	Het
Itsn2	T	C	12: 4,662,052	V913A	probably benign	Het
Lama4	T	C	10: 39,061,379	I655T	possibly damaging	Het
Lats1	T	A	10: 7,705,903	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,607,867	M503L	probably benign	Het
Mast4	T	C	13: 102,738,721	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,506,495	T16K	possibly damaging	Het
Mroh2b	C	T	15: 4,931,104	T773I	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nudt7	A	G	8: 114,151,997	Y255C	probably benign	Het
Pfas	T	C	11: 69,000,263	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,543,546	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,960,731	L24R	possibly damaging	Het
Pram1	T	C	17: 33,641,164	V235A	probably benign	Het
Prg4	T	C	1: 150,455,126	T599A	unknown	Het
Prpf40b	A	G	15: 99,316,285	K812E	unknown	Het
Qars	G	A	9: 108,509,452	A155T	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rom1	T	A	19: 8,928,681	R165W	probably damaging	Het
Ryr1	A	T	7: 29,069,121	W2808R	probably damaging	Het
Sh3gl1	A	G	17: 56,019,038		probably null	Het
Slc22a30	A	T	19: 8,370,199	M279K	probably benign	Het
Snx11	A	G	11: 96,769,933	S184P	unknown	Het
Srgap1	A	G	10: 121,804,817	C692R	probably damaging	Het
Srgap3	T	C	6: 112,723,143	N982S	probably damaging	Het
Stac	T	A	9: 111,593,745	D270V	probably benign	Het
Syn3	T	A	10: 86,135,021	I246F	probably benign	Het
Tnr	T	C	1: 159,892,093	V980A	probably damaging	Het
Usp17le	G	T	7: 104,769,794	A47E	possibly damaging	Het
Vmn2r118	T	C	17: 55,610,936	N192S	probably benign	Het
Zmym4	C	A	4: 126,905,369	V725L	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
R8052:Atp8b5	UTSW	4	43356982	nonsense	probably null
R8218:Atp8b5	UTSW	4	43372728	critical splice donor site	probably null
R8345:Atp8b5	UTSW	4	43291714	missense	probably benign	0.01
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'- CAGATGAGACTCTGACCATGC -3'
(R):5'- CTCTGAGTAGCAAGCCACTTTAG -3'

Sequencing Primer
(F):5'- GCTGTCTTGGCTTCCAGAACAG -3'
(R):5'- CTGAGTAGCAAGCCACTTTAGTAGAG -3'

Posted On

2020-07-28