Mutagenetix > Incidental Mutation

Incidental Mutation 'R4035:Nolc1'

313701

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

041613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4035 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCACCA at 46081358 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,356,920	F34L	probably benign	Het
Abcb8	A	G	5: 24,400,621	S168G	probably benign	Het
Ano5	A	G	7: 51,566,485		probably benign	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Bhlhe41	A	G	6: 145,863,028	S353P	probably benign	Het
Ccdc88c	G	A	12: 100,930,524	A1389V	possibly damaging	Het
Cep350	T	C	1: 155,959,795	T52A	probably benign	Het
Coro2b	A	G	9: 62,425,789		probably benign	Het
Ctcf	A	T	8: 105,664,157	E132V	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803	H712L	probably benign	Het
Cxcl2	A	T	5: 90,904,413	Q87L	possibly damaging	Het
D3Ertd254e	T	G	3: 36,164,840	H337Q	possibly damaging	Het
Dopey1	T	C	9: 86,494,433	V240A	probably damaging	Het
Etfdh	C	T	3: 79,613,711	V294I	probably benign	Het
Fnip2	C	T	3: 79,479,501	V973I	probably benign	Het
Fyco1	T	C	9: 123,801,283	T1286A	probably benign	Het
Gbp10	T	A	5: 105,224,458	E145D	possibly damaging	Het
Gm13084	T	A	4: 143,810,456	D435V	probably benign	Het
Gsdme	A	T	6: 50,229,448	N138K	possibly damaging	Het
Hcn4	A	G	9: 58,843,889	D266G	probably benign	Het
Henmt1	T	C	3: 108,958,685	V199A	probably damaging	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
Isl2	A	G	9: 55,542,470	S119G	probably benign	Het
Krba1	A	G	6: 48,411,680	N538D	probably damaging	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Ndst4	C	T	3: 125,438,736	T318M	probably damaging	Het
Nlrp4f	T	C	13: 65,194,007	N608S	probably benign	Het
Olfr212	A	G	6: 116,516,629	N284S	possibly damaging	Het
Olfr878	G	A	9: 37,918,641		probably benign	Het
Osbpl2	G	A	2: 180,161,560	R475H	probably damaging	Het
Ppfibp1	A	G	6: 146,996,836	K97E	probably damaging	Het
Prpsap1	A	T	11: 116,473,008	M263K	probably benign	Het
Prtg	G	T	9: 72,842,709	E132*	probably null	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rttn	T	C	18: 88,995,653	V482A	probably benign	Het
Samsn1	A	G	16: 75,909,185	M1T	probably null	Het
Scel	A	G	14: 103,530,004	N33S	probably damaging	Het
Sema4g	A	T	19: 45,001,414	Y644F	probably damaging	Het
Slc39a10	G	A	1: 46,812,074	T752M	probably damaging	Het
Snx27	T	C	3: 94,524,244	D281G	probably damaging	Het
Spesp1	T	A	9: 62,273,036	I197L	probably benign	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Tpgs1	A	G	10: 79,669,365		probably null	Het
Trpc2	G	A	7: 102,084,504	S220N	probably damaging	Het
Ttk	C	A	9: 83,854,837	P450T	possibly damaging	Het
Ttn	T	G	2: 76,909,821	Q3458P	probably benign	Het
Ube2z	A	G	11: 96,061,067	F152L	probably damaging	Het
Utp20	C	T	10: 88,762,806	V103I	probably benign	Het
Zfa-ps	T	A	10: 52,544,540		noncoding transcript	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	46081353	small insertion	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
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'- CCATCTAGGCATCTCACTCAGG -3'
(R):5'- TGGTACAGTCTTCATTGGAGAG -3'

Sequencing Primer
(F):5'- AGGCATCTCACTCAGGTCATC -3'
(R):5'- GAAAATTAACATTAGAGGAAAGCGCC -3'

Posted On

2015-04-30