Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Nolc1'

275003

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3807 (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: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 111,990,370	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,033	I563T	probably damaging	Het
Armcx1	T	C	X: 134,721,265	V372A	probably damaging	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,214,002	N329K	probably benign	Het
Ccdc113	A	T	8: 95,542,653	N193I	probably damaging	Het
Cebpz	A	T	17: 78,935,418	L269Q	probably damaging	Het
Cttn	C	T	7: 144,445,851	V290M	probably damaging	Het
Ctu1	T	C	7: 43,676,673	L252P	probably damaging	Het
Dmbt1	T	A	7: 131,112,090	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,650,592	W135R	probably damaging	Het
Entpd7	T	G	19: 43,725,540		probably null	Het
Eri2	A	T	7: 119,786,008	C423*	probably null	Het
Erich1	T	C	8: 14,033,695	N125S	probably benign	Het
Fam149a	T	A	8: 45,381,610	T51S	possibly damaging	Het
Fam71b	G	A	11: 46,404,953	A51T	possibly damaging	Het
Fer1l4	C	T	2: 156,045,683	G531D	probably damaging	Het
Frem2	A	T	3: 53,653,449	D1212E	probably benign	Het
Get4	G	T	5: 139,252,531	V23F	probably damaging	Het
Gm11595	C	T	11: 99,772,554	R100H	unknown	Het
Gria1	T	C	11: 57,310,678	W712R	probably damaging	Het
Herc2	A	G	7: 56,207,809	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,981,684	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,190,665		probably null	Het
Lrrc56	A	G	7: 141,209,385	T393A	probably benign	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Med14	T	C	X: 12,687,177	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,278,187	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,457,377	R306*	probably null	Het
Npr1	A	T	3: 90,458,726	V586E	probably damaging	Het
Olfr192	A	C	16: 59,098,843	*50G	probably null	Het
Olfr715b	A	G	7: 107,106,463	S133P	probably benign	Het
Pcdhb4	T	C	18: 37,309,314	F559S	probably damaging	Het
Psmd12	T	G	11: 107,495,765	D387E	probably benign	Het
Psme4	T	A	11: 30,856,027		probably null	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rgs11	A	T	17: 26,203,500	I69F	probably damaging	Het
Ryr1	C	T	7: 29,020,152	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,783,322	V1359I	probably benign	Het
Sis	A	T	3: 72,925,596	V956E	probably benign	Het
Slc35f3	T	A	8: 126,389,239	W302R	probably damaging	Het
Syt16	A	G	12: 74,229,398	E212G	possibly damaging	Het
Tdp2	C	A	13: 24,831,793	S21*	probably null	Het
Tfrc	A	T	16: 32,616,826	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,787,580	I917F	probably damaging	Het
Vbp1	T	C	X: 75,523,342	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,502,852	W185*	probably null	Het
Vmn1r70	A	G	7: 10,633,788	T68A	probably benign	Het
Zfp518a	A	G	19: 40,914,797	K1057E	possibly 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	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	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'- AGGTCATCCTTTACCTGCTAAG -3'
(R):5'- TACTTTCACTGGGGCCTTGG -3'

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

Posted On

2015-04-02