Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03151:Atp9b'

411101

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 #

IGL03151

Quality Score

Status

Chromosome

Chromosomal Location

80777356-80977275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80820065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 573 (D573G)

Ref Sequence

ENSEMBL: ENSMUSP00000089394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000223926] [ENSMUST00000225205] [ENSMUST00000225235] [ENSMUST00000225980] [ENSMUST00000226064]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091790
AA Change: D573G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: D573G

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: ENSMUST00000223926

Predicted Effect

probably benign
Transcript: ENSMUST00000225205

Predicted Effect

probably benign
Transcript: ENSMUST00000225235

Predicted Effect

probably benign
Transcript: ENSMUST00000225980
AA Change: D573G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000226064
AA Change: D190G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	G	A	12: 84,061,326 (GRCm39)	A211T	probably damaging	Het
Ampd1	T	C	3: 102,999,786 (GRCm39)		probably null	Het
Armc3	T	G	2: 19,243,509 (GRCm39)	L75R	probably damaging	Het
Baz1a	T	A	12: 54,955,934 (GRCm39)		probably null	Het
C1ra	A	T	6: 124,496,730 (GRCm39)	I389F	probably benign	Het
Ccdc87	T	A	19: 4,891,585 (GRCm39)	N692K	probably benign	Het
Ccr9	A	G	9: 123,603,638 (GRCm39)		probably benign	Het
Ces4a	G	T	8: 105,874,829 (GRCm39)		probably null	Het
Dazap1	G	A	10: 80,116,754 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,103,516 (GRCm39)	Y45H	probably damaging	Het
Eloa	A	T	4: 135,737,732 (GRCm39)	Y409*	probably null	Het
Fam170a	A	G	18: 50,414,708 (GRCm39)	E118G	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glra1	C	T	11: 55,418,206 (GRCm39)	V180I	probably damaging	Het
Il17rb	T	C	14: 29,728,810 (GRCm39)	T28A	probably benign	Het
Ints9	T	A	14: 65,269,789 (GRCm39)	V493E	possibly damaging	Het
Kcnq5	C	T	1: 21,605,293 (GRCm39)	C204Y	probably damaging	Het
Npc1	A	T	18: 12,352,332 (GRCm39)	N122K	probably benign	Het
Or2b4	G	A	17: 38,116,159 (GRCm39)	G41D	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prss21	A	G	17: 24,088,376 (GRCm39)	T114A	probably damaging	Het
Prss59	A	G	6: 40,902,946 (GRCm39)	F142S	probably damaging	Het
Rab10	G	A	12: 3,299,812 (GRCm39)	T193M	probably benign	Het
Serpini1	T	A	3: 75,520,603 (GRCm39)	S67T	probably benign	Het
Slc35b1	T	C	11: 95,281,212 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,252,750 (GRCm39)	H388L	probably benign	Het
Tfap2c	T	A	2: 172,399,110 (GRCm39)	C427*	probably null	Het
Trappc14	A	G	5: 138,260,934 (GRCm39)	L237S	possibly damaging	Het
Ttn	G	T	2: 76,632,732 (GRCm39)	F14107L	probably damaging	Het
Upf1	G	T	8: 70,788,037 (GRCm39)	T774K	probably damaging	Het
Vmn1r170	G	A	7: 23,306,002 (GRCm39)	V135M	probably benign	Het
Vmn2r14	C	T	5: 109,364,260 (GRCm39)	C552Y	probably damaging	Het
Zfp367	A	G	13: 64,293,445 (GRCm39)	I147T	probably damaging	Het
Zfp952	T	C	17: 33,221,982 (GRCm39)	S116P	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
IGL02082:Atp9b	APN	18	80,935,145 (GRCm39)	intron	probably benign
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
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

2016-08-02