Mutagenetix > Incidental Mutation

Incidental Mutation 'R6632:Atp9b'

525262

Institutional Source

Beutler Lab

Gene Symbol

Atp9b

Ensembl Gene

ENSMUSG00000024566

Gene Name

ATPase, class II, type 9B

Synonyms

IIb

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80734141-80934058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80808649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 410 (R410W)

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 damaging
Transcript: ENSMUST00000091790
AA Change: R410W

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

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: R410W

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

probably benign
Transcript: ENSMUST00000225205

Predicted Effect

probably benign
Transcript: ENSMUST00000225235

Predicted Effect

probably damaging
Transcript: ENSMUST00000225980
AA Change: R410W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000226064

Meta Mutation Damage Score

0.7558

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,281,067	S758P	possibly damaging	Het
Abca3	C	G	17: 24,384,470	D545E	probably benign	Het
Akap9	T	A	5: 4,013,842		probably null	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Arpp21	G	A	9: 112,127,356	Q518*	probably null	Het
Cacna2d3	T	C	14: 28,905,265	*265W	probably null	Het
Ccdc96	G	A	5: 36,485,189	E180K	probably benign	Het
Cep164	T	C	9: 45,779,790	K1231E	possibly damaging	Het
Cnot1	A	G	8: 95,773,267		probably benign	Het
Cpne2	T	C	8: 94,554,955	V206A	probably benign	Het
Dchs1	A	G	7: 105,761,878	Y1647H	probably damaging	Het
Dnaaf5	A	G	5: 139,170,333	T590A	probably benign	Het
Eif4g1	A	T	16: 20,685,520	I1068F	probably damaging	Het
Ephb4	A	T	5: 137,366,587	K639N	probably damaging	Het
Gcc2	A	G	10: 58,270,049		probably null	Het
Gm35315	A	C	5: 110,079,263	Y103*	probably null	Het
Hsd17b4	A	G	18: 50,179,102	K578R	possibly damaging	Het
Ice2	T	C	9: 69,428,452	S906P	probably benign	Het
Irx4	G	T	13: 73,268,426	A314S	probably benign	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lrp1b	A	T	2: 40,725,442	W3650R	probably benign	Het
Mcoln3	C	T	3: 146,128,187	H161Y	probably benign	Het
Mphosph10	A	T	7: 64,385,819	M368K	probably damaging	Het
Msh2	A	C	17: 87,712,666	K567Q	possibly damaging	Het
N4bp3	T	C	11: 51,643,949	E429G	possibly damaging	Het
Nrxn3	G	A	12: 89,193,154	A17T	probably damaging	Het
Olfr1459	T	A	19: 13,146,188	Y157F	probably benign	Het
Olfr171	T	C	16: 19,625,023	T26A	probably benign	Het
P4ha2	G	T	11: 54,117,648	R227L	probably benign	Het
Pfkfb4	G	A	9: 109,009,562		probably null	Het
Ror1	A	G	4: 100,442,106	N892S	probably benign	Het
Scn9a	G	T	2: 66,483,502	D1957E	probably benign	Het
Sec24a	A	T	11: 51,713,649	Y713*	probably null	Het
Serpinb1b	T	A	13: 33,087,455	F70I	probably damaging	Het
Setdb1	T	C	3: 95,324,149	Y1284C	probably damaging	Het
Suco	A	T	1: 161,828,240	M1030K	possibly damaging	Het
Syne1	A	T	10: 5,215,667		probably null	Het

Other mutations in Atp9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Atp9b	APN	18	80917888	intron	probably benign
IGL00769:Atp9b	APN	18	80912853	missense	probably benign	0.08
IGL00851:Atp9b	APN	18	80765910	missense	probably damaging	1.00
IGL01529:Atp9b	APN	18	80844611	intron	probably benign
IGL01637:Atp9b	APN	18	80756455	missense	probably benign	0.06
IGL01973:Atp9b	APN	18	80758303	missense	probably benign	0.02
IGL02082:Atp9b	APN	18	80891930	intron	probably benign
IGL02560:Atp9b	APN	18	80762198	missense	probably benign	0.23
IGL02981:Atp9b	APN	18	80754289	missense	possibly damaging	0.93
IGL03151:Atp9b	APN	18	80776850	missense	probably benign	0.28
IGL03304:Atp9b	APN	18	80917877	missense	probably damaging	1.00
IGL03348:Atp9b	APN	18	80836422	missense	possibly damaging	0.88
R0056:Atp9b	UTSW	18	80765803	missense	probably damaging	0.99
R0355:Atp9b	UTSW	18	80909585	intron	probably benign
R0366:Atp9b	UTSW	18	80762102	missense	probably damaging	1.00
R0557:Atp9b	UTSW	18	80765922	missense	probably damaging	1.00
R0612:Atp9b	UTSW	18	80753956	missense	possibly damaging	0.81
R1099:Atp9b	UTSW	18	80858626	missense	probably damaging	1.00
R1126:Atp9b	UTSW	18	80778954	missense	probably damaging	1.00
R1499:Atp9b	UTSW	18	80762138	missense	probably damaging	0.99
R1499:Atp9b	UTSW	18	80778907	missense	probably benign	0.02
R1764:Atp9b	UTSW	18	80909591	critical splice donor site	probably null
R1780:Atp9b	UTSW	18	80776897	nonsense	probably null
R1782:Atp9b	UTSW	18	80765922	missense	probably damaging	1.00
R1835:Atp9b	UTSW	18	80778883	missense	probably benign	0.00
R1859:Atp9b	UTSW	18	80749920	missense	possibly damaging	0.95
R1953:Atp9b	UTSW	18	80754307	missense	possibly damaging	0.80
R2140:Atp9b	UTSW	18	80736087	missense	probably damaging	0.99
R2191:Atp9b	UTSW	18	80753051	missense	probably damaging	1.00
R4118:Atp9b	UTSW	18	80749829	missense	possibly damaging	0.83
R4605:Atp9b	UTSW	18	80753149	critical splice acceptor site	probably null
R4654:Atp9b	UTSW	18	80891878	missense	probably benign	0.00
R4767:Atp9b	UTSW	18	80753070	missense	probably damaging	1.00
R4775:Atp9b	UTSW	18	80765769	critical splice donor site	probably null
R4936:Atp9b	UTSW	18	80736093	missense	possibly damaging	0.58
R5096:Atp9b	UTSW	18	80762184	missense	probably benign	0.39
R5279:Atp9b	UTSW	18	80912858	missense	probably damaging	0.98
R5394:Atp9b	UTSW	18	80776837	missense	probably benign	0.16
R5774:Atp9b	UTSW	18	80933932	missense	probably damaging	0.96
R5877:Atp9b	UTSW	18	80752789	missense	probably benign
R6080:Atp9b	UTSW	18	80738808	missense	probably benign	0.03
R6170:Atp9b	UTSW	18	80877347	missense	probably benign	0.16
R6250:Atp9b	UTSW	18	80756521	missense	probably benign	0.01
R6340:Atp9b	UTSW	18	80778900	missense	probably benign	0.38
R6498:Atp9b	UTSW	18	80777015	missense	probably benign	0.03
R6620:Atp9b	UTSW	18	80808687	nonsense	probably null
R6665:Atp9b	UTSW	18	80917735	missense	probably benign	0.26
R6821:Atp9b	UTSW	18	80847248	missense	probably damaging	1.00
R6927:Atp9b	UTSW	18	80891857	missense	possibly damaging	0.63
R6977:Atp9b	UTSW	18	80753102	missense	probably damaging	1.00
R7133:Atp9b	UTSW	18	80909656	missense
R7188:Atp9b	UTSW	18	80917826	missense
R7396:Atp9b	UTSW	18	80736842	missense
R7432:Atp9b	UTSW	18	80765841	missense
R7457:Atp9b	UTSW	18	80917618	splice site	probably null
R7877:Atp9b	UTSW	18	80847197	missense
R8072:Atp9b	UTSW	18	80765061	missense
R8167:Atp9b	UTSW	18	80847183	missense
R8420:Atp9b	UTSW	18	80844591	missense
R8700:Atp9b	UTSW	18	80753146	missense
R8830:Atp9b	UTSW	18	80765800	missense
R8884:Atp9b	UTSW	18	80795347	missense
R9172:Atp9b	UTSW	18	80917778	nonsense	probably null
R9463:Atp9b	UTSW	18	80765836	missense
R9735:Atp9b	UTSW	18	80795414	missense
Z1176:Atp9b	UTSW	18	80765865	missense

Predicted Primers

PCR Primer
(F):5'- AGGCATTTTCCAGCTGTTGAGAC -3'
(R):5'- TGGGTGCCAACTTGAGCATG -3'

Sequencing Primer
(F):5'- AAGGGGTACTTTTCTCTAACTCTAGC -3'
(R):5'- GGTGCCAACTTGAGCATGTATTAATG -3'

Posted On

2018-06-22