Mutagenetix > Incidental Mutation

Incidental Mutation 'R6372:Nol9'

513565

Institutional Source

Beutler Lab

Gene Symbol

Nol9

Ensembl Gene

ENSMUSG00000028948

Gene Name

nucleolar protein 9

Synonyms

6030462G04Rik, 4632412I24Rik

MMRRC Submission

044522-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R6372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152123778-152145951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152130452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 329 (S329P)

Ref Sequence

ENSEMBL: ENSMUSP00000099486 (fasta)

Gene Model

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

AlphaFold

Q3TZX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084116
AA Change: S329P

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

SMART Domains

Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: S329P

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 damaging
Transcript: ENSMUST00000103197
AA Change: S329P

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

SMART Domains

Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: S329P

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

Meta Mutation Damage Score

0.9559

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 87,066,088 (GRCm39)	H136Q	possibly damaging	Het
Aim2	T	A	1: 173,282,802 (GRCm39)		probably null	Het
Atp13a3	T	C	16: 30,162,273 (GRCm39)	H696R	probably damaging	Het
Atrnl1	T	C	19: 57,638,764 (GRCm39)	S301P	probably benign	Het
Atxn1	T	A	13: 45,710,932 (GRCm39)	I667F	probably damaging	Het
Cacnb4	T	A	2: 52,324,679 (GRCm39)	Y415F	probably benign	Het
Ccdc183	T	C	2: 25,506,176 (GRCm39)	D140G	probably benign	Het
Clec2g	A	C	6: 128,925,726 (GRCm39)	H45P	probably benign	Het
Col5a3	A	G	9: 20,696,882 (GRCm39)	V917A	probably damaging	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Dnajc28	T	C	16: 91,414,176 (GRCm39)	I23V	probably benign	Het
Elovl6	T	C	3: 129,426,751 (GRCm39)	F139S	probably damaging	Het
Fcgbp	A	G	7: 27,806,433 (GRCm39)	T2134A	probably damaging	Het
Fcrl5	C	T	3: 87,351,501 (GRCm39)	Q250*	probably null	Het
Gimap1	T	A	6: 48,720,290 (GRCm39)	*301K	probably null	Het
Gm17472	T	C	6: 42,957,823 (GRCm39)	S31P	possibly damaging	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gnl1	T	C	17: 36,293,427 (GRCm39)	F204S	probably damaging	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hk1	T	C	10: 62,127,757 (GRCm39)	H370R	probably benign	Het
Ighv7-2	G	A	12: 113,876,075 (GRCm39)	T10I	probably benign	Het
Itga9	A	G	9: 118,726,389 (GRCm39)	K448E	probably damaging	Het
Lama4	C	A	10: 38,943,948 (GRCm39)	N750K	probably benign	Het
Megf11	T	C	9: 64,613,907 (GRCm39)	Y1077H	probably damaging	Het
Mrpl45	T	C	11: 97,212,388 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,457,812 (GRCm39)	D2185G	possibly damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nlrc5	T	C	8: 95,206,378 (GRCm39)	L743P	probably damaging	Het
Nol4	A	G	18: 23,171,613 (GRCm39)		probably null	Het
Ntrk1	T	C	3: 87,693,355 (GRCm39)	D259G	probably benign	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or4k40	T	A	2: 111,251,147 (GRCm39)	I50F	probably benign	Het
Or5al5	T	C	2: 85,961,198 (GRCm39)	T270A	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8h8	T	A	2: 86,753,499 (GRCm39)	I126F	probably damaging	Het
Pbx4	C	A	8: 70,324,694 (GRCm39)	A365E	possibly damaging	Het
Pcdhb19	T	A	18: 37,630,419 (GRCm39)	N71K	probably benign	Het
Pde2a	G	A	7: 101,130,599 (GRCm39)	A80T	probably benign	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Recql	A	G	6: 142,322,566 (GRCm39)	V112A	probably damaging	Het
Rhbdl3	C	A	11: 80,221,482 (GRCm39)	L207I	probably damaging	Het
Rtkn	A	G	6: 83,128,882 (GRCm39)	D459G	possibly damaging	Het
Rubcnl	C	A	14: 75,285,009 (GRCm39)	S509R	probably damaging	Het
Slc26a8	T	C	17: 28,863,777 (GRCm39)	T661A	probably benign	Het
Sspo	A	T	6: 48,449,475 (GRCm39)	D2472V	probably damaging	Het
Taf4b	T	G	18: 14,937,790 (GRCm39)	V258G	probably damaging	Het
Tbc1d19	T	G	5: 54,014,252 (GRCm39)	S293R	possibly damaging	Het
Tecpr1	C	T	5: 144,153,776 (GRCm39)	R159Q	probably damaging	Het
Tlr3	A	G	8: 45,850,048 (GRCm39)	S874P	probably damaging	Het
Tnk2	T	A	16: 32,498,603 (GRCm39)	W639R	probably damaging	Het
Tpmt	C	T	13: 47,189,370 (GRCm39)		probably null	Het
Trappc9	T	A	15: 72,461,923 (GRCm39)	D935V	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,118 (GRCm39)	V4A	probably damaging	Het
Ubn1	C	T	16: 4,899,502 (GRCm39)	T1082I	possibly damaging	Het
Usf2	G	A	7: 30,654,738 (GRCm39)	Q35*	probably null	Het
Vmn1r57	T	C	7: 5,223,826 (GRCm39)	M117T	possibly damaging	Het
Vmn2r65	G	T	7: 84,589,861 (GRCm39)	A685E	probably damaging	Het
Vxn	G	A	1: 9,683,546 (GRCm39)	E45K	probably damaging	Het
Zeb2	T	C	2: 44,892,551 (GRCm39)	E166G	probably damaging	Het
Zfp808	T	C	13: 62,320,291 (GRCm39)	S507P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTAGTCAGCGTGTCCTG -3'
(R):5'- AAATCCCCAACTTCAGTCTGTC -3'

Sequencing Primer
(F):5'- CAGCGTGTCCTGTGGTGAG -3'
(R):5'- TGCCTATAATCATAGCACTGGGG -3'

Posted On

2018-04-27