Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02803:Nop9'

360314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nop9

Ensembl Gene

ENSMUSG00000019297

Gene Name

NOP9 nucleolar protein

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

IGL02803

Quality Score

Status

Chromosome

Chromosomal Location

55745693-55755500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55750076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 298 (H298R)

Ref Sequence

ENSEMBL: ENSMUSP00000019441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001497] [ENSMUST00000002403] [ENSMUST00000019441]

AlphaFold

Q8BMC4

Predicted Effect

probably benign
Transcript: ENSMUST00000001497

SMART Domains

Protein: ENSMUSP00000001497
Gene: ENSMUSG00000022219

Domain	Start	End	E-Value	Type
CAD	36	108	2.16e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000002403

SMART Domains

Protein: ENSMUSP00000002403
Gene: ENSMUSG00000002332

Domain	Start	End	E-Value	Type
Pfam:KR	8	114	1.5e-8	PFAM
Pfam:adh_short	8	209	2.4e-41	PFAM
Pfam:adh_short_C2	14	242	5.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019441
AA Change: H298R

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

SMART Domains

Protein: ENSMUSP00000019441
Gene: ENSMUSG00000019297
AA Change: H298R

Domain	Start	End	E-Value	Type
low complexity region	11	55	N/A	INTRINSIC
Blast:Pumilio	92	127	3e-15	BLAST
Pumilio	189	220	2.74e2	SMART
Blast:Pumilio	263	298	3e-14	BLAST
Pumilio	314	349	4.38e1	SMART
Pumilio	351	387	1.03e1	SMART
Pumilio	509	546	1.72e1	SMART
Pumilio	547	582	9.17e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227300

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	C	T	12: 37,252,481	L106F	probably benign	Het
Appl1	A	G	14: 26,951,516	I208T	possibly damaging	Het
Arap2	G	T	5: 62,749,109	A189D	probably benign	Het
Arhgef12	T	C	9: 42,972,028	K1402E	possibly damaging	Het
C7	A	C	15: 5,049,560	F89V	probably damaging	Het
Camsap2	G	A	1: 136,281,123	T877I	probably damaging	Het
Cpt2	T	C	4: 107,907,386	T394A	probably benign	Het
Csnk2a1	G	T	2: 152,274,085		probably benign	Het
Dnah10	C	A	5: 124,798,014	T2528N	probably damaging	Het
Entpd8	G	T	2: 25,085,139	W494L	probably damaging	Het
Fam114a1	T	A	5: 65,005,792		probably benign	Het
Fat4	T	C	3: 38,889,295	V779A	probably damaging	Het
Gckr	T	C	5: 31,298,204	S34P	probably damaging	Het
Golga4	T	C	9: 118,535,460	V297A	probably benign	Het
Gpr65	T	C	12: 98,275,210	S41P	probably damaging	Het
Gps1	G	T	11: 120,786,823	A221S	probably damaging	Het
Heatr1	T	A	13: 12,433,986	S1861T	probably damaging	Het
Hmces	A	G	6: 87,925,729	E184G	probably damaging	Het
Itfg1	T	C	8: 85,725,511		probably null	Het
Mkl2	C	T	16: 13,403,156	T743I	possibly damaging	Het
Nfe2l3	A	G	6: 51,457,311	S284G	possibly damaging	Het
Nlrp2	C	A	7: 5,328,318	A360S	probably damaging	Het
Olfr1434	A	T	19: 12,283,983	S312C	possibly damaging	Het
Olfr183	T	A	16: 58,999,958	V91E	probably benign	Het
Olfr522	T	C	7: 140,162,374	D192G	possibly damaging	Het
Osgin1	A	G	8: 119,443,267	M158V	probably benign	Het
Patj	C	A	4: 98,426,064	Q374K	probably damaging	Het
Pck1	G	T	2: 173,156,004	G289W	probably damaging	Het
Phkg1	T	G	5: 129,866,054	I219L	possibly damaging	Het
Ppp1r15b	G	A	1: 133,133,343	A533T	probably damaging	Het
Ppwd1	T	C	13: 104,213,684	I398V	probably benign	Het
Prkdc	A	G	16: 15,833,666		probably benign	Het
Psg25	G	A	7: 18,526,287	L229F	possibly damaging	Het
Rps6ka1	T	A	4: 133,880,954	Q24L	probably benign	Het
Sgk3	T	C	1: 9,879,048	I147T	possibly damaging	Het
Slc25a24	T	A	3: 109,155,071	I159N	probably damaging	Het
Slc26a4	T	C	12: 31,522,527		probably null	Het
Slc35f4	T	C	14: 49,304,257	I347V	probably benign	Het
Spag17	A	T	3: 100,109,397	M2163L	probably benign	Het
Stab2	C	T	10: 86,950,269		probably benign	Het
Sult2a8	G	A	7: 14,411,705		probably benign	Het
Syne2	T	C	12: 76,031,546	L4718P	probably damaging	Het
Timd4	G	T	11: 46,815,694	G108W	probably damaging	Het
Timm9	T	C	12: 71,126,374		probably benign	Het
Vmn2r98	G	A	17: 19,066,013	V258I	probably benign	Het
Zcchc9	C	T	13: 91,800,881	V174I	probably benign	Het
Zdbf2	T	C	1: 63,303,077	V205A	possibly damaging	Het

Other mutations in Nop9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02156:Nop9	APN	14	55753283	nonsense	probably null
R0443:Nop9	UTSW	14	55753748	missense	probably benign	0.00
R1766:Nop9	UTSW	14	55752134	missense	possibly damaging	0.94
R1785:Nop9	UTSW	14	55751142	missense	probably damaging	1.00
R1786:Nop9	UTSW	14	55751142	missense	probably damaging	1.00
R3015:Nop9	UTSW	14	55751174	missense	probably benign	0.00
R4784:Nop9	UTSW	14	55746402	small deletion	probably benign
R5046:Nop9	UTSW	14	55745940	missense	possibly damaging	0.90
R5787:Nop9	UTSW	14	55746334	missense	possibly damaging	0.93
R6271:Nop9	UTSW	14	55753741	missense	probably damaging	1.00
R6379:Nop9	UTSW	14	55745792	missense	possibly damaging	0.83
R6943:Nop9	UTSW	14	55752813	missense	probably benign	0.25
R7562:Nop9	UTSW	14	55749352	missense	probably benign	0.01
R8916:Nop9	UTSW	14	55753644	missense	probably benign	0.17
R8992:Nop9	UTSW	14	55745981	missense	possibly damaging	0.86
R9070:Nop9	UTSW	14	55753300	missense	probably damaging	1.00
R9206:Nop9	UTSW	14	55750135	critical splice donor site	probably null
R9385:Nop9	UTSW	14	55751127	missense	probably benign	0.01

Posted On

2015-12-18