Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02082:Atp9b'

283411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp9b

Ensembl Gene

ENSMUSG00000024566

Gene Name

ATPase, class II, type 9B

Synonyms

IIb

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL02082

Quality Score

Status

Chromosome

Chromosomal Location

80777356-80977275 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 80935145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000225205] [ENSMUST00000225235] [ENSMUST00000225980] [ENSMUST00000226064]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091790

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566

Domain	Start	End	E-Value	Type
low complexity region	11	39	N/A	INTRINSIC
Pfam:PhoLip_ATPase_N	110	181	5.3e-21	PFAM
Pfam:E1-E2_ATPase	186	444	9.1e-15	PFAM
Pfam:Hydrolase	463	885	2.7e-13	PFAM
Pfam:HAD	464	882	4.8e-14	PFAM
Pfam:Cation_ATPase	563	664	3.7e-7	PFAM
Pfam:PhoLip_ATPase_C	899	1128	1.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224709

Predicted Effect

probably benign
Transcript: ENSMUST00000225205

Predicted Effect

probably benign
Transcript: ENSMUST00000225235

Predicted Effect

probably benign
Transcript: ENSMUST00000225980

Predicted Effect

probably benign
Transcript: ENSMUST00000226064

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brinp3	T	C	1: 146,627,600 (GRCm39)	C278R	probably damaging	Het
Cfap54	T	C	10: 92,917,320 (GRCm39)	S47G	unknown	Het
Clec16a	T	C	16: 10,432,432 (GRCm39)	L484P	probably damaging	Het
Cnksr1	C	A	4: 133,963,363 (GRCm39)	G71C	probably damaging	Het
Dnah12	A	T	14: 26,428,317 (GRCm39)	N246I	possibly damaging	Het
Fbh1	T	C	2: 11,768,938 (GRCm39)	D285G	probably benign	Het
Focad	C	T	4: 88,148,815 (GRCm39)	Q511*	probably null	Het
Gpr63	A	G	4: 25,008,564 (GRCm39)		probably benign	Het
Iah1	C	A	12: 21,367,405 (GRCm39)	S37*	probably null	Het
Inpp4a	T	A	1: 37,405,708 (GRCm39)		probably benign	Het
Mcm2	A	T	6: 88,865,218 (GRCm39)	Y486*	probably null	Het
Mtmr10	A	G	7: 63,983,238 (GRCm39)		probably benign	Het
Nbea	A	G	3: 55,875,588 (GRCm39)	L1694S	possibly damaging	Het
Pafah1b1	A	G	11: 74,590,159 (GRCm39)	S4P	probably benign	Het
Rnase10	A	T	14: 51,246,856 (GRCm39)	E41V	probably damaging	Het
Slc17a6	G	T	7: 51,318,777 (GRCm39)	R473L	probably benign	Het
Spata31g1	A	G	4: 42,970,198 (GRCm39)	T2A	probably benign	Het
Tbc1d9b	A	G	11: 50,054,709 (GRCm39)	D951G	probably benign	Het
Tk1	C	A	11: 117,716,553 (GRCm39)		probably null	Het
Trim46	C	A	3: 89,146,307 (GRCm39)	A395S	probably benign	Het
Vmn1r113	C	T	7: 20,521,672 (GRCm39)	H155Y	probably benign	Het
Vmn1r222	A	G	13: 23,416,499 (GRCm39)	M238T	probably damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het

Other mutations in Atp9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Atp9b	APN	18	80,961,103 (GRCm39)	intron	probably benign
IGL00769:Atp9b	APN	18	80,956,068 (GRCm39)	missense	probably benign	0.08
IGL00851:Atp9b	APN	18	80,809,125 (GRCm39)	missense	probably damaging	1.00
IGL01529:Atp9b	APN	18	80,887,826 (GRCm39)	intron	probably benign
IGL01637:Atp9b	APN	18	80,799,670 (GRCm39)	missense	probably benign	0.06
IGL01973:Atp9b	APN	18	80,801,518 (GRCm39)	missense	probably benign	0.02
IGL02560:Atp9b	APN	18	80,805,413 (GRCm39)	missense	probably benign	0.23
IGL02981:Atp9b	APN	18	80,797,504 (GRCm39)	missense	possibly damaging	0.93
IGL03151:Atp9b	APN	18	80,820,065 (GRCm39)	missense	probably benign	0.28
IGL03304:Atp9b	APN	18	80,961,092 (GRCm39)	missense	probably damaging	1.00
IGL03348:Atp9b	APN	18	80,879,637 (GRCm39)	missense	possibly damaging	0.88
R0056:Atp9b	UTSW	18	80,809,018 (GRCm39)	missense	probably damaging	0.99
R0355:Atp9b	UTSW	18	80,952,800 (GRCm39)	intron	probably benign
R0366:Atp9b	UTSW	18	80,805,317 (GRCm39)	missense	probably damaging	1.00
R0557:Atp9b	UTSW	18	80,809,137 (GRCm39)	missense	probably damaging	1.00
R0612:Atp9b	UTSW	18	80,797,171 (GRCm39)	missense	possibly damaging	0.81
R1099:Atp9b	UTSW	18	80,901,841 (GRCm39)	missense	probably damaging	1.00
R1126:Atp9b	UTSW	18	80,822,169 (GRCm39)	missense	probably damaging	1.00
R1499:Atp9b	UTSW	18	80,822,122 (GRCm39)	missense	probably benign	0.02
R1499:Atp9b	UTSW	18	80,805,353 (GRCm39)	missense	probably damaging	0.99
R1764:Atp9b	UTSW	18	80,952,806 (GRCm39)	critical splice donor site	probably null
R1780:Atp9b	UTSW	18	80,820,112 (GRCm39)	nonsense	probably null
R1782:Atp9b	UTSW	18	80,809,137 (GRCm39)	missense	probably damaging	1.00
R1835:Atp9b	UTSW	18	80,822,098 (GRCm39)	missense	probably benign	0.00
R1859:Atp9b	UTSW	18	80,793,135 (GRCm39)	missense	possibly damaging	0.95
R1953:Atp9b	UTSW	18	80,797,522 (GRCm39)	missense	possibly damaging	0.80
R2140:Atp9b	UTSW	18	80,779,302 (GRCm39)	missense	probably damaging	0.99
R2191:Atp9b	UTSW	18	80,796,266 (GRCm39)	missense	probably damaging	1.00
R4118:Atp9b	UTSW	18	80,793,044 (GRCm39)	missense	possibly damaging	0.83
R4605:Atp9b	UTSW	18	80,796,364 (GRCm39)	critical splice acceptor site	probably null
R4654:Atp9b	UTSW	18	80,935,093 (GRCm39)	missense	probably benign	0.00
R4767:Atp9b	UTSW	18	80,796,285 (GRCm39)	missense	probably damaging	1.00
R4775:Atp9b	UTSW	18	80,808,984 (GRCm39)	critical splice donor site	probably null
R4936:Atp9b	UTSW	18	80,779,308 (GRCm39)	missense	possibly damaging	0.58
R5096:Atp9b	UTSW	18	80,805,399 (GRCm39)	missense	probably benign	0.39
R5279:Atp9b	UTSW	18	80,956,073 (GRCm39)	missense	probably damaging	0.98
R5394:Atp9b	UTSW	18	80,820,052 (GRCm39)	missense	probably benign	0.16
R5774:Atp9b	UTSW	18	80,977,147 (GRCm39)	missense	probably damaging	0.96
R5877:Atp9b	UTSW	18	80,796,004 (GRCm39)	missense	probably benign
R6080:Atp9b	UTSW	18	80,782,023 (GRCm39)	missense	probably benign	0.03
R6170:Atp9b	UTSW	18	80,920,562 (GRCm39)	missense	probably benign	0.16
R6250:Atp9b	UTSW	18	80,799,736 (GRCm39)	missense	probably benign	0.01
R6340:Atp9b	UTSW	18	80,822,115 (GRCm39)	missense	probably benign	0.38
R6498:Atp9b	UTSW	18	80,820,230 (GRCm39)	missense	probably benign	0.03
R6620:Atp9b	UTSW	18	80,851,902 (GRCm39)	nonsense	probably null
R6632:Atp9b	UTSW	18	80,851,864 (GRCm39)	missense	probably damaging	1.00
R6665:Atp9b	UTSW	18	80,960,950 (GRCm39)	missense	probably benign	0.26
R6821:Atp9b	UTSW	18	80,890,463 (GRCm39)	missense	probably damaging	1.00
R6927:Atp9b	UTSW	18	80,935,072 (GRCm39)	missense	possibly damaging	0.63
R6977:Atp9b	UTSW	18	80,796,317 (GRCm39)	missense	probably damaging	1.00
R7133:Atp9b	UTSW	18	80,952,871 (GRCm39)	missense
R7188:Atp9b	UTSW	18	80,961,041 (GRCm39)	missense
R7396:Atp9b	UTSW	18	80,780,057 (GRCm39)	missense
R7432:Atp9b	UTSW	18	80,809,056 (GRCm39)	missense
R7457:Atp9b	UTSW	18	80,960,833 (GRCm39)	splice site	probably null
R7877:Atp9b	UTSW	18	80,890,412 (GRCm39)	missense
R8072:Atp9b	UTSW	18	80,808,276 (GRCm39)	missense
R8167:Atp9b	UTSW	18	80,890,398 (GRCm39)	missense
R8420:Atp9b	UTSW	18	80,887,806 (GRCm39)	missense
R8700:Atp9b	UTSW	18	80,796,361 (GRCm39)	missense
R8830:Atp9b	UTSW	18	80,809,015 (GRCm39)	missense
R8884:Atp9b	UTSW	18	80,838,562 (GRCm39)	missense
R9172:Atp9b	UTSW	18	80,960,993 (GRCm39)	nonsense	probably null
R9463:Atp9b	UTSW	18	80,809,051 (GRCm39)	missense
R9735:Atp9b	UTSW	18	80,838,629 (GRCm39)	missense
Z1176:Atp9b	UTSW	18	80,809,080 (GRCm39)	missense

Posted On

2015-04-16