Mutagenetix > Incidental Mutation

Incidental Mutation 'R3737:Nolc1'

270207

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

040724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3737 (G1)

Quality Score

129

Status

Not validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CAG to CAGTAG at 46081353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165017] [ENSMUST00000223728] [ENSMUST00000223741] [ENSMUST00000224490] [ENSMUST00000225780]

AlphaFold

E9Q5C9

Predicted Effect

probably benign
Transcript: ENSMUST00000165017

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176

Domain	Start	End	E-Value	Type
LisH	10	42	2.3e-2	SMART
low complexity region	76	100	N/A	INTRINSIC
low complexity region	123	187	N/A	INTRINSIC
low complexity region	189	210	N/A	INTRINSIC
low complexity region	224	272	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
low complexity region	297	313	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	329	342	N/A	INTRINSIC
low complexity region	353	383	N/A	INTRINSIC
low complexity region	429	470	N/A	INTRINSIC
low complexity region	472	486	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
low complexity region	509	538	N/A	INTRINSIC
low complexity region	558	579	N/A	INTRINSIC
Pfam:SRP40_C	627	699	1.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223683

Predicted Effect

probably benign
Transcript: ENSMUST00000223728

Predicted Effect

probably benign
Transcript: ENSMUST00000223741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224434

Predicted Effect

probably benign
Transcript: ENSMUST00000224490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225758

Predicted Effect

probably benign
Transcript: ENSMUST00000225780

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Arap1	A	T	7: 101,400,277	Y982F	possibly damaging	Het
Bicral	A	T	17: 46,825,910	Y125N	probably damaging	Het
Brd2	A	G	17: 34,117,080	L53S	probably benign	Het
Ccdc88c	G	A	12: 100,930,524	A1389V	possibly damaging	Het
Cdk17	G	A	10: 93,221,644		probably null	Het
Clca3a1	A	G	3: 144,730,721	V867A	probably benign	Het
Dchs1	T	A	7: 105,762,316	D1531V	possibly damaging	Het
Dnah9	G	A	11: 66,156,908	Q29*	probably null	Het
Dopey1	T	C	9: 86,494,433	V240A	probably damaging	Het
Fgfbp1	T	C	5: 43,979,596	Y118C	probably damaging	Het
Gal3st2c	A	G	1: 94,009,328	I332V	possibly damaging	Het
Gprc6a	A	C	10: 51,626,911	N285K	probably benign	Het
Hcn4	A	G	9: 58,843,889	D266G	probably benign	Het
Hmcn2	A	T	2: 31,336,612	K200*	probably null	Het
Hmgcr	C	G	13: 96,651,063	L852F	probably damaging	Het
Ifi203	T	A	1: 173,929,474		probably benign	Het
Il1f5	T	C	2: 24,281,203	F101S	probably damaging	Het
Isl2	A	G	9: 55,542,470	S119G	probably benign	Het
Kctd9	G	A	14: 67,734,288	D157N	possibly damaging	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,804,474	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Mon2	A	G	10: 123,013,375	L1340P	probably damaging	Het
Myh9	G	A	15: 77,766,812	R1612C	probably damaging	Het
Nlrp4f	T	C	13: 65,194,007	N608S	probably benign	Het
Olfr878	G	A	9: 37,918,641		probably benign	Het
Osbpl2	G	A	2: 180,161,560	R475H	probably damaging	Het
Pcm1	T	A	8: 41,261,043	Y215*	probably null	Het
Pde6c	T	A	19: 38,140,224	V212D	probably damaging	Het
Ppl	T	C	16: 5,106,857	T115A	probably benign	Het
Prtg	G	T	9: 72,842,709	E132*	probably null	Het
R3hcc1	C	T	14: 69,697,593	R262Q	probably benign	Het
Serpinb6d	T	A	13: 33,667,680	V140E	probably damaging	Het
Ska3	A	T	14: 57,811,596	M306K	probably benign	Het
Spesp1	T	A	9: 62,273,036	I197L	probably benign	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Tprgl	T	C	4: 154,160,128	I137V	probably benign	Het
Ttk	C	A	9: 83,854,837	P450T	possibly damaging	Het
Ube2j1	A	T	4: 33,036,723	M16L	probably benign	Het
Ubr3	G	A	2: 69,971,234		probably null	Het
Usp42	C	T	5: 143,715,439	S943N	probably benign	Het
Usp49	G	A	17: 47,672,318	V83M	probably damaging	Het
Usp6nl	C	A	2: 6,440,917	N568K	probably damaging	Het
Utp20	C	T	10: 88,762,806	V103I	probably benign	Het
Vmn1r55	T	G	7: 5,147,196	D76A	probably damaging	Het
Xrcc6	T	C	15: 82,029,631	Y53H	probably damaging	Het
Zbtb7c	T	G	18: 76,136,940	L33R	probably damaging	Het

Other mutations in Nolc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02679:Nolc1	APN	19	46083029	unclassified	probably benign
FR4976:Nolc1	UTSW	19	46081356	small insertion	probably benign
FR4976:Nolc1	UTSW	19	46081375	small insertion	probably benign
R0106:Nolc1	UTSW	19	46080089	splice site	probably benign
R0121:Nolc1	UTSW	19	46081378	unclassified	probably benign
R0140:Nolc1	UTSW	19	46081378	unclassified	probably benign
R0501:Nolc1	UTSW	19	46078920	missense	probably damaging	1.00
R0513:Nolc1	UTSW	19	46084159	missense	probably damaging	1.00
R0676:Nolc1	UTSW	19	46080089	splice site	probably benign
R1553:Nolc1	UTSW	19	46081375	small insertion	probably benign
R1642:Nolc1	UTSW	19	46079022	critical splice donor site	probably null
R1698:Nolc1	UTSW	19	46081431	splice site	probably null
R2067:Nolc1	UTSW	19	46083607	missense	probably damaging	1.00
R2113:Nolc1	UTSW	19	46081359	small insertion	probably benign
R2113:Nolc1	UTSW	19	46081361	small insertion	probably benign
R2300:Nolc1	UTSW	19	46081359	small insertion	probably benign
R2300:Nolc1	UTSW	19	46081368	small insertion	probably benign
R2895:Nolc1	UTSW	19	46081352	small insertion	probably benign
R2999:Nolc1	UTSW	19	46083155	small deletion	probably benign
R3737:Nolc1	UTSW	19	46081370	small insertion	probably benign
R3737:Nolc1	UTSW	19	46081377	small insertion	probably benign
R3747:Nolc1	UTSW	19	46081356	small insertion	probably benign
R3806:Nolc1	UTSW	19	46081352	small insertion	probably benign
R3807:Nolc1	UTSW	19	46081352	small insertion	probably benign
R3807:Nolc1	UTSW	19	46081359	small insertion	probably benign
R3807:Nolc1	UTSW	19	46081371	small insertion	probably benign
R4035:Nolc1	UTSW	19	46081358	small insertion	probably benign
R4619:Nolc1	UTSW	19	46083520	missense	probably damaging	1.00
R4856:Nolc1	UTSW	19	46083155	small deletion	probably benign
R4999:Nolc1	UTSW	19	46078920	missense	probably damaging	1.00
R5103:Nolc1	UTSW	19	46081664	nonsense	probably null
R5559:Nolc1	UTSW	19	46083155	small deletion	probably benign
R5837:Nolc1	UTSW	19	46083183	unclassified	probably benign
R6457:Nolc1	UTSW	19	46083070	unclassified	probably benign
R7467:Nolc1	UTSW	19	46082334	missense	unknown
R7497:Nolc1	UTSW	19	46082818	missense	probably benign	0.23
R8011:Nolc1	UTSW	19	46081584	missense	unknown
R8806:Nolc1	UTSW	19	46083032	missense	unknown
RF027:Nolc1	UTSW	19	46081363	small insertion	probably benign
RF031:Nolc1	UTSW	19	46081371	small insertion	probably benign
RF034:Nolc1	UTSW	19	46081371	small insertion	probably benign
RF040:Nolc1	UTSW	19	46081363	small insertion	probably benign
RF044:Nolc1	UTSW	19	46081371	small insertion	probably benign
X0050:Nolc1	UTSW	19	46081352	small deletion	probably benign
Y5377:Nolc1	UTSW	19	46081369	small insertion	probably benign
Y5379:Nolc1	UTSW	19	46081359	small insertion	probably benign
Z1088:Nolc1	UTSW	19	46083098	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGTCATCCTTTACCTGCTAAGC -3'
(R):5'- TACTTTCACTGGGGCCTTGG -3'

Sequencing Primer
(F):5'- TGCTAAGCCATCCCACCTG -3'
(R):5'- TGGTACAGTCTTCATTGGAGAG -3'

Posted On

2015-03-18