Mutagenetix > Incidental Mutation

Incidental Mutation 'R6620:Atp9b'

528153

Institutional Source

Beutler Lab

Gene Symbol

Atp9b

Ensembl Gene

ENSMUSG00000024566

Gene Name

ATPase, class II, type 9B

Synonyms

IIb

MMRRC Submission

044743-MU

Accession Numbers

Essential gene?

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

Stock #

R6620 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80777356-80977275 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80851902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 397 (L397*)

Ref Sequence

ENSEMBL: ENSMUSP00000153157 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000091790
AA Change: L397*

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: L397*

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: ENSMUST00000224709

Predicted Effect

silent
Transcript: ENSMUST00000225205

Predicted Effect

silent
Transcript: ENSMUST00000225235

Predicted Effect

probably null
Transcript: ENSMUST00000225980
AA Change: L397*

Predicted Effect

probably benign
Transcript: ENSMUST00000226064

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	T	3: 36,120,294 (GRCm39)	A13S	possibly damaging	Het
Ahnak	G	A	19: 8,992,674 (GRCm39)	E4653K	possibly damaging	Het
Apc2	C	T	10: 80,149,401 (GRCm39)	P1485L	probably damaging	Het
Ces1e	C	A	8: 93,950,546 (GRCm39)	K79N	probably damaging	Het
Col12a1	A	C	9: 79,527,331 (GRCm39)	I2666M	probably damaging	Het
Dock10	T	A	1: 80,570,355 (GRCm39)	N361I	probably benign	Het
Dock3	C	A	9: 106,815,125 (GRCm39)	M1247I	probably benign	Het
Evi5l	C	A	8: 4,256,674 (GRCm39)	A720E	possibly damaging	Het
F5	T	C	1: 164,014,375 (GRCm39)	F549L	probably damaging	Het
Gpx2	T	C	12: 76,839,674 (GRCm39)	N108S	possibly damaging	Het
Ifnar1	T	C	16: 91,293,155 (GRCm39)		probably null	Het
Kcnj16	T	C	11: 110,915,473 (GRCm39)	V45A	probably damaging	Het
Kng1	T	C	16: 22,900,232 (GRCm39)	L402P	possibly damaging	Het
Lct	C	A	1: 128,222,809 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,112,888 (GRCm39)	K106N	probably benign	Het
Map3k13	A	T	16: 21,711,061 (GRCm39)	I115F	possibly damaging	Het
Mapre2	T	C	18: 23,991,002 (GRCm39)	V123A	probably benign	Het
Mtfr1l	A	G	4: 134,256,394 (GRCm39)		probably null	Het
Or10g6	T	A	9: 39,934,225 (GRCm39)	C179S	probably damaging	Het
Or4c99	A	G	2: 88,356,743 (GRCm39)	Y272C	probably damaging	Het
Pbxip1	G	A	3: 89,355,133 (GRCm39)	V551I	probably benign	Het
Pcdha8	T	C	18: 37,125,581 (GRCm39)	I21T	probably benign	Het
Plekha5	G	A	6: 140,518,601 (GRCm39)	R296Q	probably damaging	Het
Psme2	A	C	14: 55,825,928 (GRCm39)	D126E	probably damaging	Het
Psmg2	T	C	18: 67,774,807 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,291,629 (GRCm39)		probably null	Het
Sdr39u1	C	T	14: 56,135,172 (GRCm39)	R257H	probably damaging	Het
Sorbs2	G	T	8: 46,249,213 (GRCm39)	R802S	probably damaging	Het
Spata31	A	G	13: 65,067,571 (GRCm39)	N78D	possibly damaging	Het
Spatc1l	A	G	10: 76,405,756 (GRCm39)	D320G	probably damaging	Het
Ttc8	T	C	12: 98,923,579 (GRCm39)	Y212H	possibly damaging	Het
Vmn2r112	G	A	17: 22,822,082 (GRCm39)	M253I	probably benign	Het
Zbed5	A	G	5: 129,932,130 (GRCm39)	E693G	possibly damaging	Het
Zfp808	T	A	13: 62,320,638 (GRCm39)	N622K	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
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'- ATTCATCTGGGTTCTCAGCC -3'
(R):5'- TCCCTGAGAACTCGGTACAG -3'

Sequencing Primer
(F):5'- CCTCTGTAGTTTTGACTGGGTAAC -3'
(R):5'- TCCCTGAGAACTCGGTACAGGATAC -3'

Posted On

2018-07-24