Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Nolc1'

672105

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46083032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 473 (S473R)

Ref Sequence

ENSEMBL: ENSMUSP00000128331 (fasta)

Gene Model

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

AlphaFold

E9Q5C9

Predicted Effect

unknown
Transcript: ENSMUST00000165017
AA Change: S473R

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
AA Change: S473R

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

unknown
Transcript: ENSMUST00000223728
AA Change: S471R

Predicted Effect

probably benign
Transcript: ENSMUST00000223741

Predicted Effect

probably benign
Transcript: ENSMUST00000224490

Predicted Effect

unknown
Transcript: ENSMUST00000225780
AA Change: S472R

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,261	D198G	probably benign	Het
Abca1	T	C	4: 53,084,520	M586V	probably benign	Het
Adam6b	G	A	12: 113,491,798	R745H	possibly damaging	Het
Afg3l1	A	G	8: 123,493,918	D462G	probably damaging	Het
Anapc1	T	A	2: 128,622,413	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,834,762	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,179,970	S96A	possibly damaging	Het
Birc6	T	C	17: 74,642,316	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,801,557	D90G	possibly damaging	Het
Ccdc105	A	G	10: 78,752,472	V168A	probably damaging	Het
Cdkl3	T	C	11: 52,032,468	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,589,309	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 24,899,635	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351	M1L	probably benign	Het
Dmtn	T	C	14: 70,614,948	I167V	probably benign	Het
Dnah9	A	G	11: 65,859,483	L3932P	probably damaging	Het
Ece1	T	A	4: 137,945,141	I365N	probably damaging	Het
Exo5	T	C	4: 120,922,405	T88A	probably benign	Het
Frem3	T	C	8: 80,663,435	Y1772H	probably benign	Het
Gm11639	T	A	11: 105,037,869	M4815K	probably benign	Het
Gm5160	A	G	18: 14,424,874	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,776,883	D21V	unknown	Het
Gm7298	C	A	6: 121,784,682		silent	Het
Gucy2e	A	G	11: 69,236,116	V177A	probably benign	Het
Islr	C	A	9: 58,156,973	G417V	unknown	Het
Kif13a	A	T	13: 46,761,337	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,165,085	D642G	possibly damaging	Het
Med24	A	T	11: 98,705,144	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,389,228	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,242,772	V13D	probably damaging	Het
N4bp2	T	A	5: 65,808,208	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,300,653	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,589,452	Y877C	probably damaging	Het
Nop16	A	C	13: 54,589,859		probably benign	Het
Nr3c2	T	C	8: 77,242,463	I959T	probably damaging	Het
Nup88	T	G	11: 70,944,115	K692N	probably benign	Het
Nvl	C	A	1: 181,095,054	G818V	probably benign	Het
Olfr1046	T	C	2: 86,216,856	I285V	probably damaging	Het
Olfr1193	T	C	2: 88,678,611	V245A	probably benign	Het
Olfr1357	G	T	10: 78,612,140	T167N	probably benign	Het
Olfr731	T	A	14: 50,237,919	E322V	probably benign	Het
Olfr732	A	G	14: 50,281,779	I158T	probably benign	Het
Olfr913	A	T	9: 38,595,109	D296V	probably damaging	Het
Plxnc1	G	A	10: 94,799,278	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,858,253	A696V	probably damaging	Het
Prl	A	G	13: 27,059,532	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,198,936	D366G	probably damaging	Het
Rrp8	A	G	7: 105,735,037	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,909,449	V452A	probably damaging	Het
Runx2	C	A	17: 44,639,683	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665	T199A	probably damaging	Het
Sik3	T	C	9: 46,209,067	S745P	probably damaging	Het
Slc35e1	T	A	8: 72,488,129	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,552	F160S	probably damaging	Het
Stim2	T	A	5: 53,998,915	V11E	probably benign	Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Tox4	T	C	14: 52,286,861	S151P	probably damaging	Het
Trim34b	A	T	7: 104,336,112	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,033,756	S156P	probably damaging	Het
Usp34	C	A	11: 23,484,143	L3240M		Het
Vmn1r56	T	C	7: 5,195,806	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,066		probably benign	Het
Vps13c	T	C	9: 67,945,828	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,982,274	V216I	probably damaging	Het
Zfp931	T	C	2: 178,067,796	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,956,108	M106V	probably benign	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
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
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'- TGCAGGCAGTAACCAGAAAC -3'
(R):5'- GAGAAGCTGGAGTGCCATTG -3'

Sequencing Primer
(F):5'- CCTCAGAGCAGGAAGGCTGAC -3'
(R):5'- GCCATTGGCCTTGCTTGC -3'

Posted On

2021-04-30