Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00770:Nol9'

277880

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nol9

Ensembl Gene

ENSMUSG00000028948

Gene Name

nucleolar protein 9

Synonyms

6030462G04Rik, 4632412I24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL00770

Quality Score

Status

Chromosome

Chromosomal Location

152123778-152145951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152136472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 515 (S515P)

Ref Sequence

ENSEMBL: ENSMUSP00000099486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084116] [ENSMUST00000103197]

AlphaFold

Q3TZX8

Predicted Effect

probably benign
Transcript: ENSMUST00000084116
AA Change: S515P

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: S515P

Domain	Start	End	E-Value	Type
low complexity region	24	42	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
low complexity region	79	106	N/A	INTRINSIC
low complexity region	281	294	N/A	INTRINSIC
Pfam:CLP1_P	322	480	7.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103197
AA Change: S515P

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: S515P

Domain	Start	End	E-Value	Type
low complexity region	24	42	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
low complexity region	79	106	N/A	INTRINSIC
low complexity region	281	294	N/A	INTRINSIC
Pfam:MobB	316	429	5.9e-18	PFAM
Pfam:Clp1	425	665	1.9e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105663

SMART Domains

Protein: ENSMUSP00000101288
Gene: ENSMUSG00000028948

Domain	Start	End	E-Value	Type
low complexity region	24	42	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
low complexity region	79	106	N/A	INTRINSIC
low complexity region	281	294	N/A	INTRINSIC
Pfam:MobB	316	429	5.3e-18	PFAM
Pfam:Clp1	425	627	5.8e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147797

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,306,776 (GRCm39)	A1397T	possibly damaging	Het
Aldob	A	G	4: 49,536,843 (GRCm39)	S349P	probably benign	Het
Cd2	A	T	3: 101,190,345 (GRCm39)		probably null	Het
Cmtm2a	A	G	8: 105,019,562 (GRCm39)	S43P	probably damaging	Het
Cts6	T	C	13: 61,346,153 (GRCm39)		probably benign	Het
E2f3	A	T	13: 30,102,687 (GRCm39)	D68E	probably damaging	Het
Ect2	G	A	3: 27,152,592 (GRCm39)	R869W	probably damaging	Het
Eml1	A	G	12: 108,480,774 (GRCm39)		probably null	Het
Fundc1	T	A	X: 17,424,252 (GRCm39)		probably null	Het
Gabrb1	G	T	5: 72,265,789 (GRCm39)		probably null	Het
Lrrk2	T	G	15: 91,686,036 (GRCm39)		probably benign	Het
Map3k2	C	T	18: 32,361,292 (GRCm39)	P584L	probably benign	Het
Mindy2	T	C	9: 70,538,315 (GRCm39)	D340G	probably benign	Het
Nav3	T	C	10: 109,652,124 (GRCm39)	D877G	probably damaging	Het
Osgepl1	A	G	1: 53,359,405 (GRCm39)	I305V	probably benign	Het
Pign	A	G	1: 105,525,481 (GRCm39)	V449A	probably benign	Het
Rad54b	G	A	4: 11,593,765 (GRCm39)	R131K	probably benign	Het
Rgl3	A	T	9: 21,899,018 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,566,197 (GRCm39)	D1407G	probably damaging	Het
Sf3b3	A	T	8: 111,544,270 (GRCm39)	I790N	probably damaging	Het
Srebf1	C	T	11: 60,095,965 (GRCm39)	R358Q	probably damaging	Het
Tmem18	A	G	12: 30,638,720 (GRCm39)	R133G	unknown	Het
Tnfrsf11b	T	G	15: 54,117,468 (GRCm39)	R262S	probably benign	Het
Tsc1	A	T	2: 28,555,023 (GRCm39)	H171L	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Wdcp	A	G	12: 4,905,303 (GRCm39)	E608G	probably damaging	Het

Other mutations in Nol9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00774:Nol9	APN	4	152,136,472 (GRCm39)	missense	probably benign	0.38
IGL00885:Nol9	APN	4	152,126,057 (GRCm39)	missense	probably damaging	1.00
IGL01125:Nol9	APN	4	152,131,066 (GRCm39)	missense	probably damaging	1.00
IGL01368:Nol9	APN	4	152,142,848 (GRCm39)	missense	probably benign
IGL01759:Nol9	APN	4	152,130,500 (GRCm39)	intron	probably benign
IGL01983:Nol9	APN	4	152,130,494 (GRCm39)	critical splice donor site	probably null
IGL02185:Nol9	APN	4	152,142,368 (GRCm39)	missense	probably damaging	1.00
IGL02869:Nol9	APN	4	152,131,030 (GRCm39)	missense	probably damaging	1.00
IGL02967:Nol9	APN	4	152,125,559 (GRCm39)	missense	possibly damaging	0.95
R0401:Nol9	UTSW	4	152,137,062 (GRCm39)	missense	probably benign	0.00
R3721:Nol9	UTSW	4	152,124,163 (GRCm39)	missense	probably benign	0.07
R4429:Nol9	UTSW	4	152,125,631 (GRCm39)	missense	probably damaging	1.00
R4460:Nol9	UTSW	4	152,142,293 (GRCm39)	missense	probably damaging	1.00
R4837:Nol9	UTSW	4	152,136,552 (GRCm39)	intron	probably benign
R5137:Nol9	UTSW	4	152,130,428 (GRCm39)	missense	probably damaging	1.00
R5698:Nol9	UTSW	4	152,135,031 (GRCm39)	missense	probably damaging	0.98
R6190:Nol9	UTSW	4	152,125,691 (GRCm39)	missense	possibly damaging	0.85
R6317:Nol9	UTSW	4	152,125,514 (GRCm39)	missense	probably damaging	1.00
R6372:Nol9	UTSW	4	152,130,452 (GRCm39)	missense	probably damaging	1.00
R6525:Nol9	UTSW	4	152,123,906 (GRCm39)	missense	probably damaging	0.98
R6551:Nol9	UTSW	4	152,136,325 (GRCm39)	missense	possibly damaging	0.80
R6580:Nol9	UTSW	4	152,136,218 (GRCm39)	missense	probably benign	0.00
R7538:Nol9	UTSW	4	152,124,115 (GRCm39)	missense	probably benign	0.05
R8143:Nol9	UTSW	4	152,125,559 (GRCm39)	missense	possibly damaging	0.95
R9018:Nol9	UTSW	4	152,123,918 (GRCm39)	missense	probably damaging	0.99
R9428:Nol9	UTSW	4	152,124,109 (GRCm39)	missense	probably benign	0.00
R9578:Nol9	UTSW	4	152,125,706 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16