Mutagenetix > Incidental Mutation

Incidental Mutation 'R4510:Atp8b5'

470163

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

041585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4510 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43320629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 206 (T206A)

Ref Sequence

ENSEMBL: ENSMUSP00000103575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102953] [ENSMUST00000107937] [ENSMUST00000107942] [ENSMUST00000136262]

AlphaFold

A3FIN4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000056010

Predicted Effect

probably damaging
Transcript: ENSMUST00000102953
AA Change: T206A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
AA Change: T206A

Domain	Start	End	E-Value	Type
coiled coil region	20	49	N/A	INTRINSIC
Blast:CUB	55	90	1e-6	BLAST
Pfam:E1-E2_ATPase	107	305	4.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107937

Predicted Effect

probably damaging
Transcript: ENSMUST00000107942
AA Change: T206A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: T206A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136262

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,277,328	S1530P	possibly damaging	Het
9330159F19Rik	T	A	10: 29,224,823	D397E	probably benign	Het
Abcc10	A	G	17: 46,307,210	F1005L	probably damaging	Het
Ackr4	T	C	9: 104,098,731	E339G	probably benign	Het
Adam39	G	T	8: 40,826,291	C573F	probably damaging	Het
Anks1b	A	G	10: 90,510,790	T651A	probably benign	Het
Aoc1	C	A	6: 48,907,806	H594Q	probably damaging	Het
Arid1a	A	C	4: 133,695,699		probably benign	Het
Atp4a	G	T	7: 30,724,253	E928*	probably null	Het
Atp5j	T	C	16: 84,827,974	D104G	probably benign	Het
Atrn	G	A	2: 130,935,577	W182*	probably null	Het
BC017158	A	T	7: 128,276,140	F319Y	probably damaging	Het
Cacna1e	G	A	1: 154,561,833	T257I	probably damaging	Het
Caskin1	G	A	17: 24,506,628	S1296N	probably benign	Het
Crebrf	A	G	17: 26,742,964	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,574,491	R248W	probably damaging	Het
Dclk3	C	A	9: 111,467,992	H201Q	probably benign	Het
Ddx17	A	T	15: 79,538,592	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,825,516	*51W	probably null	Het
Fgfr4	C	A	13: 55,161,515	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,069,211	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,330,277	T28I	probably benign	Het
Gga2	G	A	7: 122,021,078	T4M	unknown	Het
Gm12185	T	A	11: 48,908,478	H396L	possibly damaging	Het
Gm12794	A	T	4: 101,941,560	M243L	probably benign	Het
Gm21976	A	G	13: 98,305,331	R123G	probably benign	Het
Hecw1	A	C	13: 14,357,191	V166G	probably damaging	Het
Hpx	A	G	7: 105,592,088	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,302,978	Y61C	probably damaging	Het
Igsf1	A	G	X: 49,786,173	F789S	probably damaging	Het
Il4ra	A	G	7: 125,576,108	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,399,215	T547A	possibly damaging	Het
Insrr	C	A	3: 87,808,671	P558T	possibly damaging	Het
Ints9	A	G	14: 65,028,932	D411G	possibly damaging	Het
Irak3	T	A	10: 120,145,908	H393L	probably damaging	Het
Isx	G	A	8: 74,873,670	M10I	probably benign	Het
Itga11	A	G	9: 62,761,588	D709G	probably damaging	Het
Kcng2	G	T	18: 80,295,715	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011	V664A	probably benign	Het
Lalba	A	G	15: 98,482,541	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,209,518	F17V	probably benign	Het
Lnx1	C	T	5: 74,620,192	D382N	probably damaging	Het
Lrp1	T	C	10: 127,593,848	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,480,062	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,825,272	V431I	probably benign	Het
Mmrn2	T	C	14: 34,403,059	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,917,410	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,635,579	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526	T74R	probably damaging	Het
Notch2	T	C	3: 98,146,321	M2100T	probably benign	Het
Parp1	A	G	1: 180,591,276	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,766,662	T72A	probably damaging	Het
Polg	T	C	7: 79,455,522	Q758R	probably benign	Het
Polq	G	A	16: 37,048,563	R765H	probably damaging	Het
Prkd1	T	C	12: 50,392,979	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,491,826	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,026,748	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032	Q279L	possibly damaging	Het
Samd4	T	A	14: 47,077,585	V114D	probably benign	Het
Sec23ip	G	A	7: 128,779,176	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,527,403	T128S	probably benign	Het
Slc5a11	A	T	7: 123,235,635	I6F	probably benign	Het
Slc6a19	A	C	13: 73,683,975	L494R	probably damaging	Het
Slc6a21	A	G	7: 45,287,289	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,340,562	A381D	probably damaging	Het
Smc4	T	A	3: 69,016,647		probably null	Het
Stk19	T	C	17: 34,832,528	E17G	probably damaging	Het
Tekt5	A	C	16: 10,358,013	V556G	probably benign	Het
Tenm4	T	C	7: 96,894,863	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,212,425	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,065,019	D432G	probably damaging	Het
Tnip1	T	A	11: 54,926,790	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,742,958	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,988,017	I1625M	probably benign	Het
Ttn	A	T	2: 76,745,429	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,722,557	N19D	possibly damaging	Het
Washc2	A	T	6: 116,220,556	D250V	probably damaging	Het
Xpo1	A	G	11: 23,287,401	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,238,511	T154P	probably damaging	Het
Zzef1	A	G	11: 72,888,170	D1819G	probably benign	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
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
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

Posted On

2017-03-07