Mutagenetix > Incidental Mutations

Incidental Mutation 'R3942:Atp10b'

312906

Institutional Source

Beutler Lab

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

5930426O13Rik, 9030605H24Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R3942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43149877-43262285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43172754 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077659
AA Change: V172A

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

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: V172A

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: ENSMUST00000137991

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,182,789	N6049S	probably damaging	Het
Aph1a	C	T	3: 95,894,261	R31W	probably damaging	Het
Atp13a2	T	C	4: 141,006,422	S1041P	probably damaging	Het
Best3	T	A	10: 116,988,674	F15Y	possibly damaging	Het
Brinp3	C	A	1: 146,751,861	D277E	probably damaging	Het
Crb1	A	C	1: 139,337,473	L69R	possibly damaging	Het
Crcp	T	C	5: 130,034,950		probably null	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Gm5724	A	G	6: 141,727,714	I366T	probably damaging	Het
Hps3	T	C	3: 19,996,939	Y859C	probably damaging	Het
Irx5	C	A	8: 92,359,686	N132K	probably damaging	Het
Itgb2	A	G	10: 77,558,033	T436A	probably benign	Het
Kit	A	G	5: 75,609,318	D130G	probably benign	Het
Krt12	A	G	11: 99,422,096	S41P	unknown	Het
Lypd6b	G	T	2: 49,943,540	S64I	probably damaging	Het
Mpc1	T	A	17: 8,288,588		probably null	Het
Olfr1214	T	A	2: 88,988,111	L30F	probably benign	Het
Olfr1443	A	T	19: 12,680,404	M99L	probably benign	Het
Pard3b	T	A	1: 62,159,452	I233N	probably damaging	Het
Pcdh1	A	G	18: 38,199,458	V164A	probably benign	Het
Pclo	A	G	5: 14,679,918		probably benign	Het
Pkhd1l1	T	C	15: 44,592,026		probably null	Het
Spata31d1d	T	C	13: 59,727,462	Q753R	probably benign	Het
Stxbp6	A	G	12: 44,902,858		probably null	Het
Trav6-5	T	C	14: 53,491,381	S32P	probably benign	Het
Zp3r	A	C	1: 130,577,054	D470E	possibly 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
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
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'- AAGGAATAGACCTTTTACGAGTGG -3'
(R):5'- AAGCACTTACCGGCTGTGAG -3'

Sequencing Primer
(F):5'- TCCAGGATACAGGGTATTACTGCC -3'
(R):5'- TGTGAGAAGCCCTTCACGAC -3'

Posted On

2015-04-30