Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Nolc1'

274629

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

040763-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3806 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CCAGCAGCAGCAGCAGCAGCAGCAGC to CCAGCAGCAGCAGCAGCAGCAGCAGCAGC at 46081352 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: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Akap9	A	G	5: 3,954,410	N108S	probably benign	Het
Ankmy1	A	G	1: 92,883,758	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,887,630	D851E	probably damaging	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,180,824	T62A	possibly damaging	Het
Clcnka	T	C	4: 141,387,290	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cpxm2	C	T	7: 132,080,091	M236I	probably benign	Het
Dhrs2	A	T	14: 55,234,748	N32I	probably benign	Het
Fam131a	G	A	16: 20,695,858	V70M	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,329,452	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,907,614	T315A	probably benign	Het
Fer1l4	C	T	2: 156,045,683	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965	Q18*	probably null	Het
Gm4788	T	A	1: 139,753,035	K248N	probably damaging	Het
Hemk1	T	A	9: 107,337,030	I68F	probably damaging	Het
Herc3	C	A	6: 58,916,850	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,859,298	A68S	probably benign	Het
Ip6k3	T	C	17: 27,145,000	H358R	probably damaging	Het
Itpr2	T	C	6: 146,232,291		probably null	Het
Kmt2a	C	T	9: 44,820,356		probably benign	Het
Krt16	G	T	11: 100,248,740	R51S	unknown	Het
Lamtor1	G	A	7: 101,911,345	V156I	probably damaging	Het
Lingo4	A	G	3: 94,402,100	D115G	probably damaging	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Man1c1	A	T	4: 134,703,351	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,388,360	N145S	probably benign	Het
Morf4l1	A	G	9: 90,095,143	S203P	probably benign	Het
Muc5ac	T	C	7: 141,813,734	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,152,634	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,482,504	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,404,846	E44G	probably benign	Het
Olfr1187-ps1	A	T	2: 88,540,356		noncoding transcript	Het
Olfr73	A	G	2: 88,034,567	S191P	possibly damaging	Het
Otof	T	A	5: 30,386,499		probably null	Het
Pcdha2	G	A	18: 36,939,529	R71H	probably benign	Het
Pcdha2	G	T	18: 36,941,691	E792*	probably null	Het
Pcnx	A	G	12: 81,950,137	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,260,806	Y122H	probably damaging	Het
Psg16	A	G	7: 17,090,684	E131G	probably benign	Het
Psmd12	T	G	11: 107,495,765	D387E	probably benign	Het
Rab6a	A	G	7: 100,608,224	M1V	probably null	Het
Ripk3	T	C	14: 55,786,268	R29G	probably benign	Het
Robo4	A	T	9: 37,404,438	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,422,190	V423A	possibly damaging	Het
Scgb2b18	T	G	7: 33,173,138	M81L	probably benign	Het
Slc24a2	A	T	4: 87,227,784	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,357,193	E325G	probably benign	Het
Syt16	A	G	12: 74,229,398	E212G	possibly damaging	Het
Them6	A	G	15: 74,721,518	D75G	probably damaging	Het
Tmem5	A	T	10: 122,081,609	V333E	possibly damaging	Het
Tmem57	C	T	4: 134,830,580	M207I	probably benign	Het
Tnrc18	G	A	5: 142,787,274	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Zbtb22	C	T	17: 33,916,946		probably benign	Het
Zfp235	A	G	7: 24,140,621	D225G	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
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'- CTCAGGTCATCCTTTACCTGCTAAG -3'
(R):5'- TACTTTCACTGGGGCCTTGG -3'

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

Posted On

2015-04-02