Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01368:Nol9'

76021

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 #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

152123778-152145951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152142848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 687 (N687K)

Ref Sequence

ENSEMBL: ENSMUSP00000081133 (fasta)

Gene Model

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

AlphaFold

Q3TZX8

Predicted Effect

probably benign
Transcript: ENSMUST00000084116
AA Change: N687K

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

SMART Domains

Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: N687K

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

SMART Domains

Protein: ENSMUSP00000099486
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	5.9e-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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,288,770 (GRCm39)	D93E	probably damaging	Het
Adam22	T	C	5: 8,177,411 (GRCm39)	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,370,063 (GRCm39)		probably benign	Het
Babam1	T	A	8: 71,851,050 (GRCm39)	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,839,500 (GRCm39)	W133R	probably damaging	Het
Ckm	C	T	7: 19,150,712 (GRCm39)	Q184*	probably null	Het
Clk4	T	A	11: 51,171,999 (GRCm39)	Y246*	probably null	Het
Cyp3a57	T	C	5: 145,305,878 (GRCm39)	S121P	probably damaging	Het
Eif1ad15	C	T	12: 88,287,858 (GRCm39)	D132N	unknown	Het
Gm8011	T	C	14: 42,287,831 (GRCm39)		probably benign	Het
Gpr153	T	C	4: 152,367,451 (GRCm39)	F434S	probably benign	Het
Gpr158	G	T	2: 21,831,909 (GRCm39)	W1003L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,700,010 (GRCm39)	E34G	probably damaging	Het
Igkv16-104	G	T	6: 68,402,594 (GRCm39)	R2S	possibly damaging	Het
Map3k3	T	C	11: 106,041,215 (GRCm39)	F395L	probably benign	Het
Myof	T	A	19: 37,924,905 (GRCm39)	T1161S	probably damaging	Het
Nlrp9a	T	C	7: 26,257,299 (GRCm39)	S217P	probably damaging	Het
Or10ad1	T	C	15: 98,105,381 (GRCm39)	I295V	probably damaging	Het
Or11h23	T	C	14: 50,948,450 (GRCm39)	V221A	possibly damaging	Het
Or2ag15	T	C	7: 106,340,829 (GRCm39)	E104G	probably benign	Het
Or8g33	A	T	9: 39,337,476 (GRCm39)	V297D	probably damaging	Het
Prss1l	A	G	6: 41,373,620 (GRCm39)	D161G	possibly damaging	Het
Rrh	T	C	3: 129,602,618 (GRCm39)	D229G	probably benign	Het
Sclt1	T	C	3: 41,665,610 (GRCm39)	T153A	probably damaging	Het
Slc41a1	G	A	1: 131,766,862 (GRCm39)	V127I	probably damaging	Het
Smarca2	C	T	19: 26,751,694 (GRCm39)	S214L	possibly damaging	Het
Tmem63a	T	C	1: 180,797,797 (GRCm39)	V616A	possibly damaging	Het
Ubr1	A	G	2: 120,771,612 (GRCm39)		probably benign	Het
Vmn1r228	A	G	17: 20,996,774 (GRCm39)	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,929,945 (GRCm39)		probably null	Het

Other mutations in Nol9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Nol9	APN	4	152,136,472 (GRCm39)	missense	probably benign	0.38
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
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

2013-10-07