Mutagenetix > Incidental Mutation

Incidental Mutation 'R6457:Nolc1'

516559

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6457 (G1)

Quality Score

175.009

Status

Not validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 46083070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153641 (fasta)

Gene Model

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

AlphaFold

E9Q5C9

Predicted Effect

unknown
Transcript: ENSMUST00000165017
AA Change: E486G

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
AA Change: E486G

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: ENSMUST00000223683
AA Change: E485G

Predicted Effect

unknown
Transcript: ENSMUST00000223728
AA Change: E484G

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

unknown
Transcript: ENSMUST00000225780
AA Change: E485G

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,622	V524E	probably damaging	Het
Acer2	T	A	4: 86,900,571	M152K	probably damaging	Het
Actn3	T	C	19: 4,871,848	D130G	probably damaging	Het
Ank1	T	A	8: 23,087,967	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,391,844	A326T	probably benign	Het
Ankrd11	G	A	8: 122,908,764	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,071		probably benign	Het
Aurkb	G	A	11: 69,048,346	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,465,276	T9I	possibly damaging	Het
Card14	C	T	11: 119,339,602	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,426	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,645,691	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cox10	A	G	11: 63,964,372	L361P	probably damaging	Het
Cox18	A	G	5: 90,223,689	I84T	probably benign	Het
Dhrs3	T	C	4: 144,919,952	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,329,326	H149R	probably benign	Het
Flg2	T	A	3: 93,220,482	S2234T	unknown	Het
Gtf2e1	A	C	16: 37,536,336		probably null	Het
H2-Q7	A	T	17: 35,439,679	S98C	probably damaging	Het
Hcn2	G	T	10: 79,733,773	E536*	probably null	Het
Kat6b	A	T	14: 21,670,680	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,100,378	V35I	probably benign	Het
Krt34	A	T	11: 100,040,090	L162Q	probably damaging	Het
Ly9	A	G	1: 171,589,095	S644P	probably damaging	Het
Magi1	A	T	6: 93,699,639	V685E	probably damaging	Het
Malrd1	A	G	2: 15,526,597		probably benign	Het
Malrd1	A	T	2: 15,667,929	H599L	probably benign	Het
Matn2	T	A	15: 34,426,234	C631S	probably damaging	Het
Megf8	A	T	7: 25,349,695	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,392,944	R98Q	probably benign	Het
Mprip	T	A	11: 59,758,989	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,270,205	D439G	probably damaging	Het
Mroh5	A	T	15: 73,790,842	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,279,282	I84L	probably benign	Het
Myt1	G	A	2: 181,763,425		probably null	Het
Nbea	T	A	3: 56,000,569	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,253,474	I1095K	probably benign	Het
Nr5a2	A	G	1: 136,960,238	L18P	probably benign	Het
Nup188	G	T	2: 30,322,187	C562F	probably damaging	Het
Obscn	A	G	11: 59,080,771	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,379,678		probably null	Het
Pias3	A	G	3: 96,699,523	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,893,500	V903A	probably damaging	Het
Pramel1	T	A	4: 143,396,705	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,509,438	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,908,032	Y120H	probably damaging	Het
Prss28	A	G	17: 25,311,357	M212V	probably benign	Het
Rbp3	G	T	14: 33,955,267	G391*	probably null	Het
Rc3h2	C	T	2: 37,411,139		probably null	Het
Ret	A	G	6: 118,173,621	F645L	probably benign	Het
Sgsm2	A	G	11: 74,865,169	S402P	possibly damaging	Het
Shc3	T	A	13: 51,482,879		probably null	Het
Slc25a16	A	G	10: 62,941,159	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694	H26Q	probably benign	Het
Tex45	T	C	8: 3,479,268	L251P	probably damaging	Het
Thsd1	A	G	8: 22,243,347	T137A	probably damaging	Het
Tnik	A	T	3: 28,539,448	H151L	probably damaging	Het
Tns1	T	A	1: 73,918,050	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,220,592	T147S	probably damaging	Het
Tomm6	G	T	17: 47,688,007		probably benign	Het
Trp53	G	A	11: 69,589,614	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,807,294	V1492E	probably benign	Het
Tsen2	G	A	6: 115,559,631	R116H	probably benign	Het
Uvrag	A	G	7: 98,906,519	F456S	probably damaging	Het
Vmn1r86	A	T	7: 13,102,352	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,409,957	C120Y	probably 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
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

Posted On

2018-05-21