Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Nolc1'

392526

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 46081664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 291 (K291*)

Ref Sequence

ENSEMBL: ENSMUSP00000153545 (fasta)

Gene Model

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

AlphaFold

E9Q5C9

Predicted Effect

probably null
Transcript: ENSMUST00000165017
AA Change: K292*

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
AA Change: K292*

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 null
Transcript: ENSMUST00000223683
AA Change: K291*

Predicted Effect

probably null
Transcript: ENSMUST00000223728
AA Change: K290*

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 null
Transcript: ENSMUST00000225780
AA Change: K291*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,189,262	I591V	probably benign	Het
Agbl5	G	A	5: 30,894,001	R518H	probably damaging	Het
Agfg1	T	C	1: 82,893,567	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,869,982	D283G	probably damaging	Het
Asb1	A	G	1: 91,552,344	N162S	possibly damaging	Het
BC037034	A	G	5: 138,262,300	V288A	probably benign	Het
Capn1	A	G	19: 6,009,110	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,422,835	V30E	probably damaging	Het
Cep290	T	G	10: 100,539,020	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,997,948	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,160,632	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180		probably null	Het
Eml6	T	A	11: 29,850,905	E367V	possibly damaging	Het
Emp1	A	G	6: 135,381,075	T140A	probably benign	Het
Ergic3	T	C	2: 156,008,625	V74A	probably benign	Het
Fancm	A	T	12: 65,105,858	L1029F	probably damaging	Het
Fank1	C	A	7: 133,876,841	C210*	probably null	Het
Fbxo31	T	C	8: 121,552,362	D462G	probably damaging	Het
Frem1	G	A	4: 82,991,612	A736V	probably benign	Het
Fshr	T	C	17: 89,097,368	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,377,382		probably null	Het
Gm8909	T	C	17: 36,161,685		probably benign	Het
Golga2	A	G	2: 32,303,746	E458G	probably benign	Het
Grik2	T	A	10: 49,496,109	I335F	probably benign	Het
Grin1	T	A	2: 25,310,421	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,004,519	G297D	probably damaging	Het
Hacd1	T	C	2: 14,040,913	T136A	probably damaging	Het
Hdac5	T	A	11: 102,196,283	S24C	probably damaging	Het
Jtb	T	C	3: 90,232,087		probably benign	Het
Kif1a	C	T	1: 93,046,696	G979E	probably damaging	Het
Mark2	T	C	19: 7,284,503	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,087,093	V90A	possibly damaging	Het
Micu1	T	C	10: 59,788,984	Y283H	possibly damaging	Het
Mmp2	C	T	8: 92,831,785	R161*	probably null	Het
Mrpl2	G	A	17: 46,650,038	R286Q	probably benign	Het
Msh5	T	C	17: 35,029,239	I783V	possibly damaging	Het
Myo3b	T	A	2: 70,096,403	F65I	probably benign	Het
Nat10	C	A	2: 103,757,260	V37L	probably damaging	Het
Nlrp1a	T	A	11: 71,099,526	T967S	probably damaging	Het
Olfr135	A	C	17: 38,208,317	E24A	possibly damaging	Het
Olfr347	A	T	2: 36,734,668	T116S	probably benign	Het
Olfr52	C	A	2: 86,181,616	R165L	probably benign	Het
Olfr926	G	T	9: 38,877,576	M133I	probably damaging	Het
Paip1	A	G	13: 119,437,979	E70G	possibly damaging	Het
Palmd	T	A	3: 116,927,421	E127V	probably damaging	Het
Paqr6	T	A	3: 88,367,717	C262*	probably null	Het
Pdcd11	A	G	19: 47,124,454	H1301R	probably benign	Het
Plce1	C	A	19: 38,767,215	D1896E	probably damaging	Het
Ppib	A	G	9: 66,061,465		probably null	Het
Pzp	C	T	6: 128,502,229	V654M	probably benign	Het
Rab26	T	C	17: 24,534,097		probably benign	Het
Recql4	A	G	15: 76,706,756	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,454	Q65*	probably null	Het
Rhpn1	C	T	15: 75,714,215	T659I	possibly damaging	Het
Slc12a5	C	A	2: 164,992,433	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,918,995	Q93*	probably null	Het
Slc4a1	T	C	11: 102,353,261	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,868,155	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033	E476G	probably damaging	Het
Smco4	G	T	9: 15,544,794	E59*	probably null	Het
Sparcl1	C	T	5: 104,085,763	M573I	probably damaging	Het
Stat4	T	A	1: 52,071,895	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,576,232	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,458,882	E877*	probably null	Het
Tenm4	A	T	7: 96,842,957	I1033F	probably damaging	Het
Tppp2	T	A	14: 51,919,452	F95L	probably benign	Het
Vmn2r41	G	A	7: 8,138,342	L708F	probably benign	Het
Washc5	G	A	15: 59,350,169	P126L	probably damaging	Het
Xkr4	T	C	1: 3,670,688	I221V	probably benign	Het
Xkr5	T	C	8: 18,933,643	R628G	probably benign	Het
Zfp207	T	C	11: 80,391,910	L233P	probably damaging	Het
Zfp827	T	A	8: 79,070,403	C373S	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
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'- ACTTTGTAGCAGGGATGCAG -3'
(R):5'- TCTGACTCTGTCTACCGGGAAC -3'

Sequencing Primer
(F):5'- TGTAGCAGGGATGCAGTTGAG -3'
(R):5'- GGGAACAGGGCTTACTCCTTTTC -3'

Posted On

2016-06-15