Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02560:Atp9b'

298196

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 #

IGL02560

Quality Score

Status

Chromosome

Chromosomal Location

80777356-80977275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80805413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 715 (D715G)

Ref Sequence

ENSEMBL: ENSMUSP00000153157 (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
AA Change: D715G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: D715G

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

noncoding transcript
Transcript: ENSMUST00000224283

Predicted Effect

probably benign
Transcript: ENSMUST00000225205

Predicted Effect

probably benign
Transcript: ENSMUST00000225235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225692

Predicted Effect

probably benign
Transcript: ENSMUST00000225980
AA Change: D715G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000226064

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	C	T	10: 88,814,603 (GRCm39)	W660*	probably null	Het
Catsper1	T	C	19: 5,386,216 (GRCm39)	S150P	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cldn19	G	A	4: 119,112,921 (GRCm39)	W51*	probably null	Het
Ddx31	T	C	2: 28,765,838 (GRCm39)	I512T	probably damaging	Het
Dsc2	G	T	18: 20,178,596 (GRCm39)	D269E	probably damaging	Het
Dsg1b	T	C	18: 20,542,235 (GRCm39)	V914A	possibly damaging	Het
Etl4	A	G	2: 20,748,529 (GRCm39)	E420G	probably damaging	Het
Foxa2	A	G	2: 147,885,951 (GRCm39)	L113P	probably benign	Het
Gm6034	T	G	17: 36,367,356 (GRCm39)		probably benign	Het
Gtf3c4	A	T	2: 28,724,279 (GRCm39)	Y343*	probably null	Het
Hhip	A	T	8: 80,713,638 (GRCm39)	Y563N	probably damaging	Het
Ighg2c	A	T	12: 113,251,504 (GRCm39)	C208S	unknown	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Myb	A	T	10: 21,028,347 (GRCm39)	L172Q	probably damaging	Het
Nipal3	A	T	4: 135,207,015 (GRCm39)	Y60N	probably damaging	Het
Npas2	A	T	1: 39,373,042 (GRCm39)		probably benign	Het
Or5h26	G	T	16: 58,987,891 (GRCm39)	S205*	probably null	Het
Or8k16	T	A	2: 85,519,863 (GRCm39)	V30D	possibly damaging	Het
Or8k39	A	T	2: 86,563,578 (GRCm39)	I126N	probably damaging	Het
Pdxdc1	T	C	16: 13,657,596 (GRCm39)	D532G	probably benign	Het
Pwp2	T	C	10: 78,014,899 (GRCm39)	S362G	probably damaging	Het
Senp5	A	G	16: 31,808,210 (GRCm39)	V348A	probably benign	Het
Slc25a37	T	C	14: 69,482,741 (GRCm39)	T187A	probably benign	Het
Svil	A	G	18: 5,049,379 (GRCm39)	I219V	probably benign	Het
Tcf4	A	G	18: 69,776,093 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,071,779 (GRCm39)	V2442A	probably benign	Het
Tomm70a	T	C	16: 56,970,212 (GRCm39)	L530S	probably benign	Het
Ulbp3	A	G	10: 3,075,866 (GRCm39)		noncoding transcript	Het
Wscd2	A	T	5: 113,699,045 (GRCm39)	D200V	probably benign	Het
Zfp952	C	T	17: 33,221,793 (GRCm39)	Q53*	probably null	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
IGL02082:Atp9b	APN	18	80,935,145 (GRCm39)	intron	probably benign
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