Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02216:Atp10b'

284878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp10b

Ensembl Gene

ENSMUSG00000055415

Gene Name

ATPase, class V, type 10B

Synonyms

5930426O13Rik, 9030605H24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

43149877-43262285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43259789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1438 (L1438Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076844 (fasta)

Gene Model

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

AlphaFold

B1AWN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077659
AA Change: L1438Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: L1438Q

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: ENSMUST00000144024

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	T	18: 38,252,860	I102F	probably damaging	Het
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Ap5s1	T	A	2: 131,212,967		probably benign	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Klhl1	T	A	14: 96,123,222	T731S	probably benign	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mcm8	G	T	2: 132,839,529	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Neo1	T	C	9: 58,917,053	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Pramef8	T	A	4: 143,417,728		probably null	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,905,164	M241L	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	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
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
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
R8145:Atp10b	UTSW	11	43202122	missense	probably damaging	1.00
R8406:Atp10b	UTSW	11	43203157	missense	probably benign	0.00
R8503:Atp10b	UTSW	11	43222239	missense	possibly damaging	0.92
R8542:Atp10b	UTSW	11	43230381	missense	probably benign	0.18
R8744:Atp10b	UTSW	11	43230350	missense	probably damaging	1.00
R8815:Atp10b	UTSW	11	43203151	missense	possibly damaging	0.63
R8833:Atp10b	UTSW	11	43222159	missense	probably damaging	1.00
R8880:Atp10b	UTSW	11	43215984	missense	probably benign
R8989:Atp10b	UTSW	11	43245442	nonsense	probably null
R8998:Atp10b	UTSW	11	43259899	makesense	probably null
R9255:Atp10b	UTSW	11	43216321	missense	probably damaging	1.00
R9281:Atp10b	UTSW	11	43225631	missense	probably benign	0.11
R9345:Atp10b	UTSW	11	43203197	missense	probably damaging	0.99
R9357:Atp10b	UTSW	11	43259884	missense	probably benign	0.18
R9393:Atp10b	UTSW	11	43172781	missense	probably damaging	1.00
R9516:Atp10b	UTSW	11	43230397	missense	probably benign	0.02
R9644:Atp10b	UTSW	11	43151832	missense	probably damaging	1.00
R9747:Atp10b	UTSW	11	43197512	missense	probably benign
Z1177:Atp10b	UTSW	11	43153349	missense	probably benign	0.05

Posted On

2015-04-16