Mutagenetix > Incidental Mutation

Incidental Mutation 'R8143:Nol9'

632630

Institutional Source

Beutler Lab

Gene Symbol

Nol9

Ensembl Gene

ENSMUSG00000028948

Gene Name

nucleolar protein 9

Synonyms

6030462G04Rik, 4632412I24Rik

MMRRC Submission

067571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8143 (G1)

Quality Score

151.008

Status

Validated

Chromosome

Chromosomal Location

152123778-152145951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152125559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 170 (V170A)

Ref Sequence

ENSEMBL: ENSMUSP00000099486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030792] [ENSMUST00000084116] [ENSMUST00000103197]

AlphaFold

Q3TZX8

Predicted Effect

probably benign
Transcript: ENSMUST00000030792

SMART Domains

Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	75	456	1.7e-69	PFAM
Pfam:NCD3G	494	546	2.1e-15	PFAM
Pfam:7tm_3	578	815	3.9e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084116
AA Change: V170A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: V170A

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

possibly damaging
Transcript: ENSMUST00000103197
AA Change: V170A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: V170A

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

noncoding transcript
Transcript: ENSMUST00000147797

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.3%
20x: 85.9%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,265,884 (GRCm39)	C262F	probably damaging	Het
Acss1	T	C	2: 150,509,801 (GRCm39)		probably null	Het
Adamtsl1	T	C	4: 86,260,492 (GRCm39)	V909A	possibly damaging	Het
Adprh	G	A	16: 38,270,694 (GRCm39)	T37M	probably benign	Het
Ak9	T	A	10: 41,213,588 (GRCm39)	Y264*	probably null	Het
Aox3	G	T	1: 58,198,074 (GRCm39)	A629S	probably benign	Het
Apcs	G	A	1: 172,721,900 (GRCm39)	P149S	probably damaging	Het
Arnt	T	A	3: 95,377,294 (GRCm39)		probably null	Het
Asb13	G	A	13: 3,692,065 (GRCm39)	G15D	probably damaging	Het
Bltp1	T	G	3: 37,000,657 (GRCm39)		probably null	Het
Cacnb1	T	G	11: 97,894,146 (GRCm39)	T459P	probably benign	Het
Chrnb2	T	C	3: 89,654,630 (GRCm39)	T718A	unknown	Het
Cttn	T	A	7: 144,014,999 (GRCm39)	K70*	probably null	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp39a1	T	C	17: 44,036,517 (GRCm39)	V349A	probably benign	Het
Ebf2	C	A	14: 67,649,386 (GRCm39)	Y430*	probably null	Het
Eef2	T	C	10: 81,017,182 (GRCm39)	Y730H	probably damaging	Het
Eif2ak2	G	A	17: 79,165,961 (GRCm39)	T412I	probably benign	Het
Flnc	G	C	6: 29,441,484 (GRCm39)	R422P	probably benign	Het
Fryl	G	A	5: 73,207,682 (GRCm39)	A2496V	probably benign	Het
Galnt6	A	G	15: 100,614,088 (GRCm39)	L71P	probably damaging	Het
Gm7579	C	T	7: 141,766,163 (GRCm39)	Q190*	probably null	Het
H2-T3	T	A	17: 36,498,384 (GRCm39)	R220S	probably benign	Het
Hmcn1	A	G	1: 150,734,957 (GRCm39)	V185A	probably benign	Het
Ifi208	T	A	1: 173,510,242 (GRCm39)	D132E	possibly damaging	Het
Itgb4	G	A	11: 115,884,255 (GRCm39)	V981I	probably damaging	Het
Itsn2	A	G	12: 4,683,003 (GRCm39)	T310A	unknown	Het
Kat5	A	G	19: 5,657,577 (GRCm39)		probably null	Het
Kif22	A	T	7: 126,632,397 (GRCm39)	D304E	probably damaging	Het
Mapre3	A	T	5: 31,020,719 (GRCm39)	N147Y	possibly damaging	Het
Morc2a	T	C	11: 3,628,537 (GRCm39)	V330A	probably benign	Het
Mylk	G	A	16: 34,734,525 (GRCm39)	V709M	possibly damaging	Het
Myo3a	T	G	2: 22,287,476 (GRCm39)		probably null	Het
N4bp2l2	A	T	5: 150,585,670 (GRCm39)	D103E	probably benign	Het
Nckap1	T	C	2: 80,336,530 (GRCm39)	K1062R	possibly damaging	Het
Numa1	A	G	7: 101,648,891 (GRCm39)	Q874R	possibly damaging	Het
Olig3	T	G	10: 19,232,732 (GRCm39)	V119G	probably damaging	Het
Or7g34	A	G	9: 19,478,587 (GRCm39)	V31A	probably benign	Het
Osbpl9	A	G	4: 108,922,906 (GRCm39)	S485P	probably benign	Het
Otogl	A	G	10: 107,642,527 (GRCm39)	F1301S	probably damaging	Het
Pank3	A	G	11: 35,667,036 (GRCm39)	Y51C	probably damaging	Het
Pex5l	T	C	3: 33,136,658 (GRCm39)		probably benign	Het
Pgm1	G	A	4: 99,824,415 (GRCm39)		probably null	Het
Psmd9	T	G	5: 123,366,479 (GRCm39)	I37S	probably damaging	Het
Qtrt2	A	G	16: 43,692,117 (GRCm39)	S135P	probably damaging	Het
Rexo5	T	A	7: 119,433,484 (GRCm39)		probably null	Het
Rsrp1	T	A	4: 134,654,319 (GRCm39)	D286E	probably benign	Het
Scara3	C	T	14: 66,169,269 (GRCm39)	C116Y	probably damaging	Het
Serpina3b	A	T	12: 104,096,793 (GRCm39)	T25S	probably benign	Het
Sh3pxd2a	G	A	19: 47,257,138 (GRCm39)	P555S	probably damaging	Het
Slc1a2	T	A	2: 102,568,230 (GRCm39)	L89Q	probably damaging	Het
Tgm6	T	A	2: 129,983,763 (GRCm39)	N307K	probably damaging	Het
Tmem86b	G	T	7: 4,631,484 (GRCm39)	D189E	probably damaging	Het
Trim65	G	A	11: 116,017,287 (GRCm39)	R392C	probably benign	Het
Trpc7	T	C	13: 56,930,362 (GRCm39)	T769A	probably benign	Het
Trrap	T	A	5: 144,772,707 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,693,677 (GRCm39)	E397G	possibly damaging	Het
Vcl	A	T	14: 21,037,112 (GRCm39)	M237L	possibly damaging	Het
Vmn1r36	G	A	6: 66,693,036 (GRCm39)	Q280*	probably null	Het
Vmn2r23	A	T	6: 123,718,312 (GRCm39)	D555V	probably damaging	Het
Wnk4	A	G	11: 101,153,625 (GRCm39)	N229S	probably damaging	Het
Zfp784	A	C	7: 5,038,910 (GRCm39)	V216G	possibly 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
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
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'- GGGACAGCCAGAGTCTTAAG -3'
(R):5'- GGAGCCAATTACCTAGTTTCGTG -3'

Sequencing Primer
(F):5'- GAATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- GCCAATTACCTAGTTTCGTGTAAGGC -3'

Posted On

2020-06-30