Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02679:Nolc1'

303310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02679

Quality Score

Status

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 46083029 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: D472E

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
AA Change: D472E

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: D471E

Predicted Effect

unknown
Transcript: ENSMUST00000223728
AA Change: D470E

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: D471E

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	T	A	10: 81,182,979		probably benign	Het
Adam5	A	T	8: 24,806,526	Y302N	probably damaging	Het
Ankrd34c	A	T	9: 89,730,079	Y70N	probably damaging	Het
Asph	G	A	4: 9,601,349	P190S	possibly damaging	Het
Atp6v1h	T	C	1: 5,124,302	C235R	probably damaging	Het
Brwd1	A	G	16: 96,002,823	L2049P	probably benign	Het
Capn2	T	A	1: 182,472,584	I614F	probably benign	Het
Ccdc126	T	A	6: 49,334,061	M1K	probably null	Het
Cdh9	T	C	15: 16,832,230	I401T	probably damaging	Het
Cep57l1	T	C	10: 41,729,386	E121G	probably damaging	Het
Cfap46	A	G	7: 139,614,470	I2276T	probably damaging	Het
Cnnm3	T	C	1: 36,520,158	S490P	probably benign	Het
D430041D05Rik	C	T	2: 104,230,305	V731I	possibly damaging	Het
Fgf3	C	A	7: 144,840,750	N100K	probably damaging	Het
Gas7	G	A	11: 67,675,727		probably null	Het
Gfm1	C	T	3: 67,474,767	P725S	possibly damaging	Het
Gimap4	T	A	6: 48,690,495	C61*	probably null	Het
Greb1	C	T	12: 16,708,723	R664Q	probably damaging	Het
Kpnb1	T	A	11: 97,177,260	I295F	possibly damaging	Het
Lamc3	A	G	2: 31,945,398	E1577G	probably benign	Het
Lrrk1	C	T	7: 66,274,872	V235M	probably damaging	Het
Mipol1	T	A	12: 57,306,043	V56E	possibly damaging	Het
Mycbp2	T	C	14: 103,205,185	I1927V	probably benign	Het
Ncaph	A	T	2: 127,124,864	N223K	possibly damaging	Het
Nipbl	A	G	15: 8,295,553	M2542T	probably benign	Het
Olfr16	G	A	1: 172,957,176	C127Y	probably damaging	Het
Olfr555	A	G	7: 102,659,177	M119V	possibly damaging	Het
Pkhd1l1	T	C	15: 44,530,045		probably null	Het
Ppat	A	T	5: 76,919,469	C306S	probably benign	Het
Ptpn13	A	T	5: 103,569,454	M1821L	possibly damaging	Het
Rabl3	C	T	16: 37,541,925	S42L	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rfx3	G	A	19: 27,849,737	H150Y	possibly damaging	Het
Rngtt	A	G	4: 33,356,098	M312V	possibly damaging	Het
Slc10a2	T	A	8: 5,098,499	T149S	probably damaging	Het
Spata21	T	C	4: 141,111,265		probably benign	Het
Stx8	G	T	11: 67,969,772	W6C	probably damaging	Het
Tcn2	T	C	11: 3,927,504	E48G	possibly damaging	Het
Tctex1d2	T	C	16: 32,425,307	V107A	possibly damaging	Het
Tecpr1	A	T	5: 144,206,546	N670K	probably benign	Het
Tldc1	A	T	8: 119,772,410	D114E	probably benign	Het
Tmem255b	G	A	8: 13,457,055	M240I	probably benign	Het
Ubr4	G	A	4: 139,459,134	E651K	probably damaging	Het
Ubr5	T	C	15: 38,002,314	T1498A	probably benign	Het
Vmn2r95	G	A	17: 18,443,854	C445Y	probably damaging	Het
Zfp429	T	A	13: 67,399,736		probably benign	Het
Zfp804b	T	G	5: 6,771,392	D557A	possibly damaging	Het

Other mutations in Nolc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16