Mutagenetix > Incidental Mutations

Incidental Mutation 'R0470:Atp10b'

41807

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

5930426O13Rik, 9030605H24Rik

MMRRC Submission

038670-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43149877-43262285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43203039 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 470 (L470Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077659]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077659
AA Change: L470Q

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: L470Q

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	47	118	3.8e-26	PFAM
Pfam:E1-E2_ATPase	123	393	2.9e-7	PFAM
low complexity region	621	638	N/A	INTRINSIC
Pfam:Cation_ATPase	692	799	7.1e-9	PFAM
Pfam:HAD	705	1062	6.7e-12	PFAM
Pfam:PhoLip_ATPase_C	1079	1324	1.9e-79	PFAM
low complexity region	1353	1366	N/A	INTRINSIC
low complexity region	1457	1471	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137991

Meta Mutation Damage Score

0.0706

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	C	T	18: 59,075,639	R120C	probably damaging	Het
Ahnak	T	G	19: 9,008,967	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,198,501	L235H	probably damaging	Het
Ank	G	A	15: 27,571,635	C331Y	probably damaging	Het
Ankrd12	T	C	17: 65,986,134	E768G	probably benign	Het
Atm	A	T	9: 53,460,966	V2172E	probably damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Cdadc1	A	T	14: 59,573,841		probably benign	Het
Cfhr2	A	T	1: 139,821,779	V155E	probably damaging	Het
Chp1	C	T	2: 119,560,763	R34C	probably damaging	Het
Cilp2	A	T	8: 69,885,405	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,132,248		probably benign	Het
Dnah8	T	A	17: 30,708,540		probably benign	Het
Gja3	T	C	14: 57,036,427	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,850,431		noncoding transcript	Het
Herc6	C	T	6: 57,619,452	T459M	probably damaging	Het
Hexb	A	G	13: 97,177,999	L412P	probably damaging	Het
Il17ra	T	G	6: 120,481,806	D639E	probably benign	Het
Kcnh5	G	A	12: 75,114,414	T240I	probably benign	Het
Lef1	T	C	3: 131,112,826		probably benign	Het
Lilrb4a	T	A	10: 51,494,827	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,404,650	H342L	probably damaging	Het
Nipal3	A	G	4: 135,447,372	V356A	probably damaging	Het
Olfr441	C	G	6: 43,116,624	A294G	probably null	Het
Olfr640	A	T	7: 104,021,670	I216N	probably damaging	Het
Plekha6	G	A	1: 133,272,307	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,050,749	I82T	probably damaging	Het
Prrc1	C	T	18: 57,363,397	T140M	probably damaging	Het
Psg22	A	C	7: 18,719,664	S95R	probably damaging	Het
Ptk6	T	C	2: 181,195,939	T396A	probably benign	Het
Ptov1	A	G	7: 44,864,811	S9P	probably damaging	Het
Scin	A	C	12: 40,073,292		probably benign	Het
Sec13	T	C	6: 113,740,632		probably benign	Het
Setd1a	G	A	7: 127,785,057		probably benign	Het
Sf3a2	G	A	10: 80,804,554		probably benign	Het
Shmt1	T	C	11: 60,792,963	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,804,185	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,316,222	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,797,517		probably null	Het
Tex24	C	T	8: 27,344,908	R155*	probably null	Het
Tgfb1	T	A	7: 25,687,930		probably benign	Het
Tmc5	A	G	7: 118,639,931	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,161,004	V131I	possibly damaging	Het
Trim66	A	G	7: 109,457,542		probably benign	Het
Tspoap1	T	C	11: 87,776,162	S1027P	probably damaging	Het
Usp34	C	T	11: 23,436,001	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,928,393	Y3S	probably benign	Het
Vmn1r231	G	A	17: 20,890,003	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,676,067	L249*	probably null	Het
Vmn1r71	G	C	7: 10,748,092	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,552,886	Q491R	probably benign	Het
Vwf	G	A	6: 125,628,428	V925M	possibly damaging	Het
Wisp1	A	G	15: 66,917,378	I238V	probably benign	Het
Zbtb6	A	C	2: 37,429,493	L141W	probably damaging	Het
Zranb1	G	T	7: 132,982,771	L615F	probably damaging	Het

Other mutations in Atp10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Atp10b	APN	11	43202161	missense	probably damaging	1.00
IGL01385:Atp10b	APN	11	43234429	missense	probably damaging	1.00
IGL01524:Atp10b	APN	11	43259845	missense	probably benign	0.18
IGL01575:Atp10b	APN	11	43172721	missense	probably benign	0.00
IGL01588:Atp10b	APN	11	43172721	missense	probably benign	0.00
IGL01590:Atp10b	APN	11	43172721	missense	probably benign	0.00
IGL01832:Atp10b	APN	11	43234435	missense	probably damaging	0.98
IGL01927:Atp10b	APN	11	43259404	splice site	probably benign
IGL01933:Atp10b	APN	11	43194630	missense	probably damaging	1.00
IGL02182:Atp10b	APN	11	43248947	missense	probably damaging	1.00
IGL02215:Atp10b	APN	11	43194665	critical splice donor site	probably null
IGL02216:Atp10b	APN	11	43259789	missense	probably damaging	0.98
IGL02973:Atp10b	APN	11	43197509	missense	probably damaging	1.00
IGL03012:Atp10b	APN	11	43194655	missense	probably damaging	0.99
IGL03106:Atp10b	APN	11	43247477	missense	probably benign	0.32
IGL03123:Atp10b	APN	11	43153283	missense	probably benign	0.01
IGL03202:Atp10b	APN	11	43234441	critical splice donor site	probably null
IGL03339:Atp10b	APN	11	43230615	missense	probably null	0.71
R0053:Atp10b	UTSW	11	43216564	splice site	probably benign
R0053:Atp10b	UTSW	11	43216564	splice site	probably benign
R0098:Atp10b	UTSW	11	43189604	missense	probably benign	0.00
R0098:Atp10b	UTSW	11	43189604	missense	probably benign	0.00
R0281:Atp10b	UTSW	11	43153304	missense	probably benign	0.00
R0379:Atp10b	UTSW	11	43254314	missense	probably benign	0.05
R0380:Atp10b	UTSW	11	43225597	missense	probably damaging	1.00
R1355:Atp10b	UTSW	11	43151655	nonsense	probably null
R1368:Atp10b	UTSW	11	43202154	missense	probably damaging	1.00
R1370:Atp10b	UTSW	11	43151655	nonsense	probably null
R1413:Atp10b	UTSW	11	43230564	missense	probably benign	0.00
R1502:Atp10b	UTSW	11	43230347	missense	probably damaging	1.00
R1530:Atp10b	UTSW	11	43197524	missense	probably benign	0.03
R1596:Atp10b	UTSW	11	43235767	missense	probably damaging	1.00
R1675:Atp10b	UTSW	11	43225648	missense	probably damaging	1.00
R1880:Atp10b	UTSW	11	43259432	missense	probably damaging	1.00
R1938:Atp10b	UTSW	11	43230418	missense	probably benign	0.00
R1986:Atp10b	UTSW	11	43172768	missense	probably benign	0.12
R2081:Atp10b	UTSW	11	43202128	missense	probably damaging	1.00
R2083:Atp10b	UTSW	11	43212423	missense	probably benign	0.24
R2159:Atp10b	UTSW	11	43151853	missense	possibly damaging	0.81
R2255:Atp10b	UTSW	11	43234380	missense	probably damaging	1.00
R2259:Atp10b	UTSW	11	43172745	missense	probably damaging	1.00
R2259:Atp10b	UTSW	11	43189613	missense	probably damaging	1.00
R3741:Atp10b	UTSW	11	43235662	missense	probably damaging	1.00
R3942:Atp10b	UTSW	11	43172754	missense	probably damaging	1.00
R3971:Atp10b	UTSW	11	43216512	missense	probably damaging	1.00
R4007:Atp10b	UTSW	11	43259852	missense	probably benign	0.04
R4050:Atp10b	UTSW	11	43259536	missense	probably benign	0.00
R4078:Atp10b	UTSW	11	43153283	missense	probably benign	0.01
R4567:Atp10b	UTSW	11	43197557	missense	probably benign	0.03
R4651:Atp10b	UTSW	11	43194645	missense	probably damaging	1.00
R4652:Atp10b	UTSW	11	43194645	missense	probably damaging	1.00
R4667:Atp10b	UTSW	11	43247518	missense	probably damaging	1.00
R4720:Atp10b	UTSW	11	43203122	missense	probably benign
R4987:Atp10b	UTSW	11	43151613	utr 5 prime	probably benign
R5232:Atp10b	UTSW	11	43202179	missense	probably damaging	1.00
R5233:Atp10b	UTSW	11	43230560	missense	probably benign	0.06
R5281:Atp10b	UTSW	11	43254336	missense	probably damaging	0.97
R5307:Atp10b	UTSW	11	43212475	missense	probably damaging	1.00
R5460:Atp10b	UTSW	11	43230455	missense	probably benign	0.00
R5518:Atp10b	UTSW	11	43151636	missense	possibly damaging	0.84
R5659:Atp10b	UTSW	11	43245425	missense	probably damaging	1.00
R5688:Atp10b	UTSW	11	43201173	missense	probably benign	0.00
R5735:Atp10b	UTSW	11	43151774	missense	probably benign	0.00
R6153:Atp10b	UTSW	11	43254282	missense	probably damaging	1.00
R6251:Atp10b	UTSW	11	43235746	missense	possibly damaging	0.95
R6259:Atp10b	UTSW	11	43201238	missense	probably benign	0.24
R6394:Atp10b	UTSW	11	43225637	missense	probably damaging	1.00
R6492:Atp10b	UTSW	11	43218957	missense	probably damaging	1.00
R6769:Atp10b	UTSW	11	43203252	critical splice donor site	probably null
R6771:Atp10b	UTSW	11	43203252	critical splice donor site	probably null
R6775:Atp10b	UTSW	11	43222213	missense	possibly damaging	0.80
R7134:Atp10b	UTSW	11	43245464	missense	probably damaging	1.00
R7322:Atp10b	UTSW	11	43212547	missense	probably damaging	1.00
R7367:Atp10b	UTSW	11	43247501	missense	probably damaging	1.00
R7538:Atp10b	UTSW	11	43225546	missense	probably benign	0.04
R7708:Atp10b	UTSW	11	43202143	missense	probably damaging	1.00
R7787:Atp10b	UTSW	11	43259873	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCTGAGTTGGAGTCAAAGAACAAGGTC -3'
(R):5'- GGTACTTACTATTGAGCTGCTGAAGGC -3'

Sequencing Primer
(F):5'- GAACAAGGTCACATACTTTCTCC -3'
(R):5'- AGGCTGTGAGGTTTCCCAC -3'

Posted On

2013-05-23