Mutagenetix > Incidental Mutation

Incidental Mutation 'R6665:Atp9b'

526955

Institutional Source

Beutler Lab

Gene Symbol

Atp9b

Ensembl Gene

ENSMUSG00000024566

Gene Name

ATPase, class II, type 9B

Synonyms

IIb

MMRRC Submission

044785-MU

Accession Numbers

Essential gene?

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

Stock #

R6665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80777356-80977275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80960950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 87 (V87G)

Ref Sequence

ENSEMBL: ENSMUSP00000089394 (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: V87G

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: V87G

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
AA Change: V87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000225235
AA Change: V87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225345

Predicted Effect

probably benign
Transcript: ENSMUST00000225980
AA Change: V87G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000226064

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,815,775 (GRCm39)		probably null	Het
Adamts16	T	G	13: 70,927,689 (GRCm39)	K517Q	probably damaging	Het
Avil	A	G	10: 126,856,394 (GRCm39)	K808E	probably damaging	Het
Bin2	T	C	15: 100,554,676 (GRCm39)	E49G	probably damaging	Het
Ccdc146	T	C	5: 21,508,092 (GRCm39)	Y652C	probably damaging	Het
Cd6	T	C	19: 10,768,367 (GRCm39)	N541D	probably benign	Het
Col28a1	A	G	6: 8,062,277 (GRCm39)	V671A	probably benign	Het
Dock6	C	T	9: 21,751,208 (GRCm39)	C355Y	probably damaging	Het
Dsc2	A	G	18: 20,183,205 (GRCm39)	F71S	probably damaging	Het
Dusp8	G	A	7: 141,643,842 (GRCm39)	P24S	probably damaging	Het
Dysf	A	G	6: 84,107,098 (GRCm39)	Y1151C	probably benign	Het
Fhip2b	A	T	14: 70,823,078 (GRCm39)	L659Q	probably damaging	Het
Frem2	T	C	3: 53,562,077 (GRCm39)	Y810C	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hexb	T	C	13: 97,315,893 (GRCm39)	N380D	probably benign	Het
Ice1	T	C	13: 70,751,592 (GRCm39)	E1498G	possibly damaging	Het
Lrif1	T	A	3: 106,642,659 (GRCm39)		probably null	Het
Myo9a	G	T	9: 59,779,155 (GRCm39)	G1637V	probably benign	Het
Myod1	A	T	7: 46,026,281 (GRCm39)	H62L	probably damaging	Het
Myoz3	A	C	18: 60,709,495 (GRCm39)	L222R	probably damaging	Het
Naca	T	A	10: 127,884,227 (GRCm39)	N2180K	probably damaging	Het
Or6c76	T	C	10: 129,612,116 (GRCm39)	F111S	probably damaging	Het
Pik3cb	A	G	9: 98,955,702 (GRCm39)	V405A	probably benign	Het
Prkdc	T	C	16: 15,603,914 (GRCm39)		probably null	Het
Rab32	T	C	10: 10,433,846 (GRCm39)		probably benign	Het
Serpinb10	A	C	1: 107,474,597 (GRCm39)	N253T	possibly damaging	Het
Slc13a5	C	T	11: 72,151,186 (GRCm39)	V131I	probably damaging	Het
Slc25a40	A	G	5: 8,502,788 (GRCm39)	N290S	probably benign	Het
Slc6a6	T	C	6: 91,703,020 (GRCm39)	V131A	probably benign	Het
Spef2	A	T	15: 9,600,604 (GRCm39)		probably null	Het
Stxbp2	A	G	8: 3,691,998 (GRCm39)	M547V	probably benign	Het
Tmem247	A	T	17: 87,225,998 (GRCm39)	Q146L	probably benign	Het
Vmn2r67	T	C	7: 84,785,900 (GRCm39)	I702V	probably benign	Het
Zmynd15	T	C	11: 70,355,636 (GRCm39)	S436P	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTTCAGAACAGCATCCTCTG -3'
(R):5'- TGGCCTGATGTTATTCCAGATG -3'

Sequencing Primer
(F):5'- CATCCTCTGATGTGGACTGATG -3'
(R):5'- ACAGAAGACTGCTTAGCTCTCTGG -3'

Posted On

2018-07-23