Mutagenetix > Incidental Mutation

Incidental Mutation 'R8011:Nolc1'

616928

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 #

R8011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46081584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 265 (V265A)

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: V265A

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
AA Change: V265A

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: V263A

Predicted Effect

probably benign
Transcript: ENSMUST00000223741

Predicted Effect

probably benign
Transcript: ENSMUST00000224490

Predicted Effect

unknown
Transcript: ENSMUST00000225780
AA Change: V264A

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	T	9: 124,293,899	E132K		Het
Acss2	T	C	2: 155,555,957	I313T	possibly damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Ankrd27	T	C	7: 35,616,881	V524A	probably benign	Het
Cacna1e	T	C	1: 154,465,822	I1209V	probably benign	Het
Cntn3	A	T	6: 102,437,899	I29N	possibly damaging	Het
Col5a1	G	A	2: 27,980,521		probably benign	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Edc3	C	A	9: 57,713,376		probably benign	Het
Egflam	A	T	15: 7,247,044	M547K	possibly damaging	Het
Fgr	T	C	4: 132,998,479	Y400H	probably damaging	Het
Gaa	C	T	11: 119,272,936	P205S	probably benign	Het
Gm14139	A	G	2: 150,192,346	S196G	possibly damaging	Het
Gpr6	T	A	10: 41,070,915	T224S	probably benign	Het
Hes3	T	C	4: 152,287,481		probably benign	Het
Hydin	T	C	8: 110,583,909	F4079S	probably damaging	Het
Igf2bp2	A	T	16: 22,076,099	I366N	probably damaging	Het
Kmt2c	A	G	5: 25,351,234	V1171A	probably damaging	Het
Kndc1	T	A	7: 139,910,620	F346Y	possibly damaging	Het
Lpin2	G	A	17: 71,230,375	G306R	probably benign	Het
Mok	T	C	12: 110,814,917		probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1018	T	G	2: 85,823,613	L214R	possibly damaging	Het
Olfr1106	A	C	2: 87,048,846	L130R	probably damaging	Het
Olfr1195	G	A	2: 88,683,193	Q180*	probably null	Het
Olfr1415	A	G	1: 92,491,275	V160A	possibly damaging	Het
Parp14	G	A	16: 35,856,634	T988I	probably benign	Het
Pdk1	A	T	2: 71,875,452	Q81H	probably benign	Het
Plekha6	A	G	1: 133,263,806	T38A	probably benign	Het
Pou2f1	A	G	1: 165,894,903		probably null	Het
Rgs6	A	G	12: 83,116,292	D424G	probably null	Het
Rnf13	T	G	3: 57,807,070	Y183*	probably null	Het
Ryr2	A	T	13: 11,588,140		probably null	Het
Serpinb7	T	A	1: 107,434,757	S64T	possibly damaging	Het
Six2	T	C	17: 85,687,672	E94G	probably damaging	Het
Slc44a5	A	G	3: 154,247,810	I276M	possibly damaging	Het
Smco2	A	G	6: 146,868,135	Y239C	probably damaging	Het
Ssx2ip	T	C	3: 146,422,911	S148P	probably damaging	Het
Tiam2	T	C	17: 3,448,396	Y816H	possibly damaging	Het
Tnk2	C	T	16: 32,668,365	R127C	probably benign	Het
Tpd52l1	T	C	10: 31,332,917	N185S	probably benign	Het
Try5	T	C	6: 41,313,487	D21G	probably benign	Het
Vmn2r20	A	G	6: 123,396,410	V491A	possibly damaging	Het
Vps54	G	T	11: 21,275,095	R197L	probably damaging	Het
Xkr5	G	T	8: 18,948,720	Y27*	probably null	Het
Zfp626	T	A	7: 27,818,715	C374S	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	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
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'- CTGCACCTCCCAAGAAGGTTAG -3'
(R):5'- TTCTGCAGAATGTCATTGCCAAC -3'

Sequencing Primer
(F):5'- CTCCCAAGAAGGTTAGGGCTGTAAC -3'
(R):5'- TGTCTACACTGCATGAGGC -3'

Posted On

2020-01-23