Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Nolc1'

170124

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

039592-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1553 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

AGCG to AGCGGCG at 46081375 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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,408,750	A649S	probably damaging	Het
Adam6a	T	A	12: 113,545,215	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,040,268	F417S	possibly damaging	Het
Ago1	T	C	4: 126,440,401	E439G	probably damaging	Het
Alox15	A	G	11: 70,349,632	V241A	possibly damaging	Het
Arhgap6	A	G	X: 169,265,484	H566R	probably damaging	Het
Asap1	A	T	15: 64,152,852	F345I	probably benign	Het
Atp1b2	A	G	11: 69,602,852	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,532,542	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656	S115C	probably damaging	Het
Ccdc68	A	T	18: 69,940,121	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 180,093,975	N560I	probably benign	Het
Cdhr3	T	C	12: 33,042,371	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,352,251	N378T	probably damaging	Het
Chil4	T	G	3: 106,203,690	N296T	probably benign	Het
Cryaa	G	A	17: 31,679,559	V87I	probably damaging	Het
Csk	G	A	9: 57,630,942	L28F	probably damaging	Het
Cspp1	A	G	1: 10,085,897	N444D	possibly damaging	Het
Cyp2j8	A	G	4: 96,475,557	Y290H	probably benign	Het
Eps8l1	A	T	7: 4,477,449	D563V	probably damaging	Het
Fam111a	A	T	19: 12,587,318	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,021,870	S1145R	probably damaging	Het
Fpr2	T	A	17: 17,893,594	V284D	possibly damaging	Het
Furin	A	G	7: 80,398,592		probably null	Het
Gatd1	T	C	7: 141,409,893	T135A	probably benign	Het
Gdf3	A	G	6: 122,609,765	S68P	probably benign	Het
Gm6871	T	C	7: 41,546,398	H305R	probably benign	Het
Grip1	A	G	10: 120,054,851	S917G	probably damaging	Het
Hdac10	T	A	15: 89,125,515	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,773,878	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,349,259	D3439G	probably benign	Het
Kcna4	T	C	2: 107,296,687	Y589H	probably benign	Het
Kcnk5	A	T	14: 20,142,394	L233Q	probably damaging	Het
Kcnt1	T	C	2: 25,900,385	I453T	probably damaging	Het
Kifc3	A	G	8: 95,106,542	I440T	possibly damaging	Het
Krt10	C	A	11: 99,385,980	G40*	probably null	Het
Lce1i	A	T	3: 92,777,795	C25S	unknown	Het
Met	A	G	6: 17,491,461	N74S	probably benign	Het
Naa35	G	A	13: 59,618,279		probably null	Het
Naalad2	T	C	9: 18,378,669	N221S	probably benign	Het
Nsmf	T	C	2: 25,060,259	V181A	probably damaging	Het
Nwd2	T	A	5: 63,800,505	S393T	probably benign	Het
Olfr530	T	A	7: 140,373,038	T191S	probably damaging	Het
Olfr575	T	A	7: 102,955,218	I128L	possibly damaging	Het
Olfr709-ps1	A	T	7: 106,926,994	V155E	possibly damaging	Het
Papola	T	A	12: 105,820,410	S453R	probably benign	Het
Paqr9	A	G	9: 95,560,209	N84S	probably damaging	Het
Pde5a	T	C	3: 122,778,936	V290A	probably benign	Het
Prf1	T	C	10: 61,303,169	V302A	probably damaging	Het
Psg18	T	C	7: 18,353,481	Y84C	probably benign	Het
Rasgrf2	C	T	13: 91,890,664	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,512,602	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,031,894	E1643G	probably benign	Het
Scg3	T	A	9: 75,669,304	E263V	probably null	Het
Scn2a	C	T	2: 65,713,836	R854*	probably null	Het
Setdb2	T	C	14: 59,417,485	K319E	probably benign	Het
Stub1	A	T	17: 25,832,123	V95E	probably damaging	Het
Tas2r140	T	A	6: 133,055,508	N96Y	probably damaging	Het
Tecta	T	A	9: 42,348,186	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,236,421	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,837,463	M438L	probably benign	Het
Tmem179	T	C	12: 112,504,660	Y106C	probably benign	Het
Tspan7	A	G	X: 10,585,615	H187R	probably benign	Het
Ttn	T	C	2: 76,927,275	D3332G	probably damaging	Het
Upp2	T	C	2: 58,790,140	F326S	probably damaging	Het
Usp2	T	A	9: 44,092,155	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,985,498	F53I	probably benign	Het
Wapl	T	A	14: 34,729,190	L727H	probably damaging	Het
Wipf1	T	C	2: 73,437,526	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 53,006,338	D243E	probably benign	Het
Zfp616	A	T	11: 74,083,918	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,287,761	P161L	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
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
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'- CAGGTCATCCTTTACCTGCTAAGCC -3'
(R):5'- CACTGGAAGAATCCTCACTGCTGG -3'

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

Posted On

2014-04-13