Mutagenetix > Incidental Mutations

Incidental Mutation 'R5659:Atp10b'

443994

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

5930426O13Rik, 9030605H24Rik

MMRRC Submission

043303-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43149877-43262285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43245425 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1127 (W1127R)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077659
AA Change: W1127R

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

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: W1127R

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	C	18: 36,561,050	S105P	probably damaging	Het
Ano5	G	A	7: 51,583,814	R658H	possibly damaging	Het
Ap3b2	T	A	7: 81,476,752	I367F	probably damaging	Het
Apaf1	A	T	10: 91,062,153	C247*	probably null	Het
Aqp8	G	A	7: 123,466,666	W228*	probably null	Het
Arhgap32	T	A	9: 32,181,960	V178D	probably damaging	Het
Bcl6	A	T	16: 23,968,409	C580*	probably null	Het
Brd1	T	C	15: 88,713,381	T568A	probably benign	Het
Brsk1	C	T	7: 4,715,372	P665L	possibly damaging	Het
Cblc	A	G	7: 19,792,932	L125P	probably damaging	Het
Ccdc87	T	C	19: 4,840,850	S457P	probably damaging	Het
Cxcr5	C	T	9: 44,513,393	M322I	probably benign	Het
Cyb5r4	T	A	9: 87,055,828	F300Y	probably benign	Het
Cyp3a25	T	C	5: 145,991,546	T230A	possibly damaging	Het
Dhx9	A	G	1: 153,471,735	V409A	probably damaging	Het
Dnah7b	A	G	1: 46,352,849	D3790G	probably damaging	Het
Gin1	A	G	1: 97,775,532	T27A	possibly damaging	Het
Gipc1	A	T	8: 83,664,126	M287L	probably benign	Het
Kat6a	T	A	8: 22,938,160	L1177*	probably null	Het
Klhl20	A	G	1: 161,090,470	V82A	probably damaging	Het
Kmt2e	T	C	5: 23,497,807	I995T	probably damaging	Het
Lpin1	A	T	12: 16,540,989	V814E	probably damaging	Het
Luzp1	T	A	4: 136,542,476	V670D	probably damaging	Het
Lyst	C	A	13: 13,634,627	A294E	possibly damaging	Het
Olfr267	A	T	4: 58,785,672	F17I	probably damaging	Het
Olfr3	A	T	2: 36,812,954	I46N	probably damaging	Het
Olfr922	C	T	9: 38,815,776	T91I	probably benign	Het
Olr1	T	A	6: 129,500,029	E91V	probably damaging	Het
Pam	T	C	1: 97,842,299	Y476C	probably damaging	Het
Pcdhac1	T	C	18: 37,092,417	L761P	probably damaging	Het
Phf21b	C	T	15: 84,793,900	W300*	probably null	Het
Pld2	T	C	11: 70,557,561	*945Q	probably null	Het
Ppp1r37	C	T	7: 19,535,523	V145M	probably damaging	Het
Rasgrf1	T	A	9: 89,984,289	N593K	probably damaging	Het
Rhot1	T	G	11: 80,250,355		probably null	Het
Rmnd1	A	T	10: 4,427,382	M99K	probably benign	Het
Ros1	G	A	10: 52,143,386	T697I	possibly damaging	Het
Scgb1b10	G	T	7: 32,100,878	A4S	probably benign	Het
Shc3	T	C	13: 51,516,594	Y39C	probably damaging	Het
Slc25a23	A	G	17: 57,045,500		probably benign	Het
Slc5a8	C	T	10: 88,919,428	L466F	possibly damaging	Het
Sqor	G	A	2: 122,787,603	C127Y	probably benign	Het
Sv2a	G	C	3: 96,190,303	W467S	possibly damaging	Het
Togaram2	G	T	17: 71,687,672	D39Y	probably damaging	Het
Tspan11	T	A	6: 127,938,277		probably null	Het
Usp32	A	G	11: 85,077,414	V141A	possibly damaging	Het
Zbtb38	T	C	9: 96,687,420	H537R	probably damaging	Het
Zfat	T	C	15: 68,119,013	Y1008C	probably damaging	Het
Zfp637	G	A	6: 117,843,330	G3E	probably damaging	Het
Zfp788	T	A	7: 41,650,116	Y673*	probably null	Het
Zhx2	T	C	15: 57,822,308	S358P	probably benign	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
R0470:Atp10b	UTSW	11	43203039	missense	possibly damaging	0.88
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
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'- GGAAGTCCACAGATCAGCTTTC -3'
(R):5'- TGGCCACTCTTGTATAACTCAGG -3'

Sequencing Primer
(F):5'- TTCAGAGAGATGACATAGCTTGCCC -3'
(R):5'- GCCACTCTTGTATAACTCAGGCAATG -3'

Posted On

2016-11-09