Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Atp9b'

93032

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: 0.099) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

80734141-80934058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80756455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 823 (E823G)

Ref Sequence

ENSEMBL: ENSMUSP00000153157 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091790
AA Change: E823G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: E823G

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: ENSMUST00000225092

Predicted Effect

probably benign
Transcript: ENSMUST00000225218

Predicted Effect

probably benign
Transcript: ENSMUST00000225235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225692

Predicted Effect

probably benign
Transcript: ENSMUST00000225980
AA Change: E823G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Atp9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Atp9b	APN	18	80917888	intron	probably benign
IGL00769:Atp9b	APN	18	80912853	missense	probably benign	0.08
IGL00851:Atp9b	APN	18	80765910	missense	probably damaging	1.00
IGL01529:Atp9b	APN	18	80844611	intron	probably benign
IGL01973:Atp9b	APN	18	80758303	missense	probably benign	0.02
IGL02082:Atp9b	APN	18	80891930	intron	probably benign
IGL02560:Atp9b	APN	18	80762198	missense	probably benign	0.23
IGL02981:Atp9b	APN	18	80754289	missense	possibly damaging	0.93
IGL03151:Atp9b	APN	18	80776850	missense	probably benign	0.28
IGL03304:Atp9b	APN	18	80917877	missense	probably damaging	1.00
IGL03348:Atp9b	APN	18	80836422	missense	possibly damaging	0.88
R0056:Atp9b	UTSW	18	80765803	missense	probably damaging	0.99
R0355:Atp9b	UTSW	18	80909585	intron	probably benign
R0366:Atp9b	UTSW	18	80762102	missense	probably damaging	1.00
R0557:Atp9b	UTSW	18	80765922	missense	probably damaging	1.00
R0612:Atp9b	UTSW	18	80753956	missense	possibly damaging	0.81
R1099:Atp9b	UTSW	18	80858626	missense	probably damaging	1.00
R1126:Atp9b	UTSW	18	80778954	missense	probably damaging	1.00
R1499:Atp9b	UTSW	18	80762138	missense	probably damaging	0.99
R1499:Atp9b	UTSW	18	80778907	missense	probably benign	0.02
R1764:Atp9b	UTSW	18	80909591	critical splice donor site	probably null
R1780:Atp9b	UTSW	18	80776897	nonsense	probably null
R1782:Atp9b	UTSW	18	80765922	missense	probably damaging	1.00
R1835:Atp9b	UTSW	18	80778883	missense	probably benign	0.00
R1859:Atp9b	UTSW	18	80749920	missense	possibly damaging	0.95
R1953:Atp9b	UTSW	18	80754307	missense	possibly damaging	0.80
R2140:Atp9b	UTSW	18	80736087	missense	probably damaging	0.99
R2191:Atp9b	UTSW	18	80753051	missense	probably damaging	1.00
R4118:Atp9b	UTSW	18	80749829	missense	possibly damaging	0.83
R4605:Atp9b	UTSW	18	80753149	critical splice acceptor site	probably null
R4654:Atp9b	UTSW	18	80891878	missense	probably benign	0.00
R4767:Atp9b	UTSW	18	80753070	missense	probably damaging	1.00
R4775:Atp9b	UTSW	18	80765769	critical splice donor site	probably null
R4936:Atp9b	UTSW	18	80736093	missense	possibly damaging	0.58
R5096:Atp9b	UTSW	18	80762184	missense	probably benign	0.39
R5279:Atp9b	UTSW	18	80912858	missense	probably damaging	0.98
R5394:Atp9b	UTSW	18	80776837	missense	probably benign	0.16
R5774:Atp9b	UTSW	18	80933932	missense	probably damaging	0.96
R5877:Atp9b	UTSW	18	80752789	missense	probably benign
R6080:Atp9b	UTSW	18	80738808	missense	probably benign	0.03
R6170:Atp9b	UTSW	18	80877347	missense	probably benign	0.16
R6250:Atp9b	UTSW	18	80756521	missense	probably benign	0.01
R6340:Atp9b	UTSW	18	80778900	missense	probably benign	0.38
R6498:Atp9b	UTSW	18	80777015	missense	probably benign	0.03
R6620:Atp9b	UTSW	18	80808687	nonsense	probably null
R6632:Atp9b	UTSW	18	80808649	missense	probably damaging	1.00
R6665:Atp9b	UTSW	18	80917735	missense	probably benign	0.26
R6821:Atp9b	UTSW	18	80847248	missense	probably damaging	1.00
R6927:Atp9b	UTSW	18	80891857	missense	possibly damaging	0.63
R6977:Atp9b	UTSW	18	80753102	missense	probably damaging	1.00
R7133:Atp9b	UTSW	18	80909656	missense
R7188:Atp9b	UTSW	18	80917826	missense
R7396:Atp9b	UTSW	18	80736842	missense
R7432:Atp9b	UTSW	18	80765841	missense
R7457:Atp9b	UTSW	18	80917618	splice site	probably null
R7877:Atp9b	UTSW	18	80847197	missense
R8072:Atp9b	UTSW	18	80765061	missense
R8167:Atp9b	UTSW	18	80847183	missense
R8420:Atp9b	UTSW	18	80844591	missense
R8700:Atp9b	UTSW	18	80753146	missense
R8830:Atp9b	UTSW	18	80765800	missense
R8884:Atp9b	UTSW	18	80795347	missense
R9172:Atp9b	UTSW	18	80917778	nonsense	probably null
R9463:Atp9b	UTSW	18	80765836	missense
R9735:Atp9b	UTSW	18	80795414	missense
Z1176:Atp9b	UTSW	18	80765865	missense

Posted On

2013-12-09