Mutagenetix > Incidental Mutation

Incidental Mutation 'R4605:Atp9b'

345983

Institutional Source

Beutler Lab

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 #

R4605 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80777356-80977275 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 80796364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153157 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000091790

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566

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 null
Transcript: ENSMUST00000091790

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566

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 null
Transcript: ENSMUST00000225980

Predicted Effect

probably null
Transcript: ENSMUST00000225980

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankra2	A	G	13: 98,402,742 (GRCm39)		probably benign	Het
Birc6	G	A	17: 74,946,929 (GRCm39)	D2885N	probably damaging	Het
Chaf1b	A	T	16: 93,684,977 (GRCm39)	N142I	possibly damaging	Het
Ckap5	G	A	2: 91,406,559 (GRCm39)	G787S	probably damaging	Het
Ctc1	G	T	11: 68,920,552 (GRCm39)	C372F	possibly damaging	Het
Dip2b	A	G	15: 100,107,517 (GRCm39)	T1176A	probably benign	Het
Epha10	A	G	4: 124,779,550 (GRCm39)	E132G	probably damaging	Het
Extl1	A	G	4: 134,087,145 (GRCm39)	V471A	probably benign	Het
Fgd6	T	C	10: 93,880,217 (GRCm39)	L357P	probably benign	Het
Gapvd1	A	T	2: 34,618,549 (GRCm39)	C275S	probably damaging	Het
Kcnj2	G	A	11: 110,963,676 (GRCm39)	C356Y	probably damaging	Het
Kcnk10	T	C	12: 98,456,219 (GRCm39)	D204G	probably damaging	Het
Krtap9-1	A	C	11: 99,764,579 (GRCm39)	E105A	unknown	Het
Loxhd1	G	A	18: 77,493,642 (GRCm39)	V668I	probably benign	Het
Ly86	T	C	13: 37,558,987 (GRCm39)	I62T	possibly damaging	Het
Maip1	A	G	1: 57,450,891 (GRCm39)	I178V	probably benign	Het
Mical3	G	A	6: 121,011,041 (GRCm39)	Q386*	probably null	Het
Or5an11	T	C	19: 12,246,532 (GRCm39)	*313Q	probably null	Het
Or5b107	T	A	19: 13,142,612 (GRCm39)	V78D	probably damaging	Het
Or5p52	A	C	7: 107,502,445 (GRCm39)	I174L	probably benign	Het
Or8j3b	G	A	2: 86,205,141 (GRCm39)	T205I	probably benign	Het
Pcdha12	T	C	18: 37,154,576 (GRCm39)	S432P	probably damaging	Het
Prex1	A	T	2: 166,555,464 (GRCm39)	Y59N	probably benign	Het
Sbf1	A	G	15: 89,187,684 (GRCm39)	F654L	probably damaging	Het
Sh2d5	T	A	4: 137,984,566 (GRCm39)	Y187*	probably null	Het
Slc9a4	T	C	1: 40,640,195 (GRCm39)		probably null	Het
Smyd2	A	G	1: 189,629,623 (GRCm39)	S136P	probably damaging	Het
Spata31e2	T	C	1: 26,722,267 (GRCm39)	K971R	probably benign	Het
Srsf11	A	T	3: 157,728,560 (GRCm39)	L115*	probably null	Het
Tbx19	C	T	1: 164,981,153 (GRCm39)	V114I	possibly damaging	Het
Unc5b	A	G	10: 60,610,182 (GRCm39)	V545A	probably benign	Het
Ush2a	A	G	1: 188,642,998 (GRCm39)	Y4120C	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Zkscan2	A	T	7: 123,097,947 (GRCm39)	W150R	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
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
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'- GGGCATTGATACCTGCATGG -3'
(R):5'- TGTGCTGCTAATAGATCAAAGCCC -3'

Sequencing Primer
(F):5'- GTGGAGATGATGAGGCCCCTG -3'
(R):5'- ATAGATCAAAGCCCTTTCTTCTTGGG -3'

Posted On

2015-09-25