Mutagenetix > Incidental Mutation

Incidental Mutation 'R1126:Atp9b'

96240

Institutional Source

Beutler Lab

Gene Symbol

Atp9b

Ensembl Gene

ENSMUSG00000024566

Gene Name

ATPase, class II, type 9B

Synonyms

IIb

MMRRC Submission

039199-MU

Accession Numbers

Essential gene?

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

Stock #

R1126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80777356-80977275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80822169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 477 (M477K)

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 damaging
Transcript: ENSMUST00000091790
AA Change: M477K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: M477K

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 damaging
Transcript: ENSMUST00000225980
AA Change: M477K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226064
AA Change: M94K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,759,062 (GRCm39)	E1226G	probably damaging	Het
Arhgef40	G	T	14: 52,234,583 (GRCm39)	S962I	probably damaging	Het
Enpp2	C	T	15: 54,770,222 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,041,226 (GRCm39)	M727K	possibly damaging	Het
Exo5	A	T	4: 120,779,322 (GRCm39)	I181N	probably damaging	Het
Fbn1	T	C	2: 125,163,112 (GRCm39)		probably null	Het
Gas6	T	C	8: 13,533,700 (GRCm39)	N103S	probably benign	Het
Gm11596	A	T	11: 99,683,699 (GRCm39)	C140*	probably null	Het
Il6st	T	C	13: 112,640,266 (GRCm39)	Y681H	probably damaging	Het
Itih4	T	C	14: 30,611,918 (GRCm39)		probably null	Het
Kdm5b	C	T	1: 134,541,729 (GRCm39)	A768V	possibly damaging	Het
Krt87	A	T	15: 101,385,363 (GRCm39)	N336K	probably damaging	Het
Mfsd6	A	G	1: 52,748,670 (GRCm39)	V65A	probably benign	Het
Nipsnap1	A	G	11: 4,834,081 (GRCm39)	N90S	probably benign	Het
Nlrp9a	C	A	7: 26,260,166 (GRCm39)	D640E	probably benign	Het
Or11h4b	C	T	14: 50,918,720 (GRCm39)	A124T	possibly damaging	Het
Or1l4	A	T	2: 37,092,113 (GRCm39)	M287L	probably benign	Het
Or2j3	A	G	17: 38,615,579 (GRCm39)	C258R	probably damaging	Het
Or5p53	A	C	7: 107,533,578 (GRCm39)	M284L	possibly damaging	Het
Parp9	G	A	16: 35,768,110 (GRCm39)	V97I	possibly damaging	Het
Pdzd2	T	C	15: 12,458,306 (GRCm39)	T12A	possibly damaging	Het
Penk	T	C	4: 4,138,119 (GRCm39)	T9A	probably benign	Het
Pilrb2	T	C	5: 137,869,222 (GRCm39)	D126G	probably damaging	Het
Pkdrej	A	T	15: 85,700,515 (GRCm39)	V1807E	probably damaging	Het
Ppp1r9a	A	G	6: 4,906,795 (GRCm39)	E450G	possibly damaging	Het
Rag1	T	C	2: 101,473,034 (GRCm39)	R703G	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rmdn3	T	C	2: 118,984,476 (GRCm39)	D92G	probably benign	Het
Rp1l1	G	A	14: 64,267,918 (GRCm39)	G1168D	probably damaging	Het
Saxo1	T	A	4: 86,397,224 (GRCm39)	T105S	probably benign	Het
Slc39a2	G	A	14: 52,131,602 (GRCm39)	G58R	probably damaging	Het
Tbx6	C	T	7: 126,383,891 (GRCm39)	T315I	probably damaging	Het
Tcf12	A	G	9: 71,907,715 (GRCm39)	M99T	probably benign	Het
Tdrd3	A	G	14: 87,718,210 (GRCm39)	D197G	probably damaging	Het
Tnc	T	C	4: 63,936,357 (GRCm39)	N193S	probably damaging	Het
Ttn	A	G	2: 76,680,347 (GRCm39)		probably benign	Het
Vmn1r225	A	G	17: 20,722,588 (GRCm39)	I10V	probably benign	Het
Zp3r	A	G	1: 130,546,079 (GRCm39)	L77P	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTCATCATATTTCCCACGAATCTGC -3'
(R):5'- AACTCCTAAGCCTCCCTGTCAGAGTG -3'

Sequencing Primer
(F):5'- CCACGAATCTGCTGATACAGATATG -3'
(R):5'- TCAGAGTGACCATTCTGTGGAG -3'

Posted On

2014-01-05