Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Nolc1'

17379

Institutional Source

Beutler Lab

Gene Symbol

Nolc1

Ensembl Gene

ENSMUSG00000015176

Gene Name

nucleolar and coiled-body phosphoprotein 1

Synonyms

NOPP140, 3230402K17Rik, P130

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

46075863-46085530 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 46080089 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,587,373 (GRCm38)		probably benign	Het
A730018C14Rik	A	T	12: 112,415,194 (GRCm38)		noncoding transcript	Het
Abca5	A	T	11: 110,319,825 (GRCm38)	L176Q	probably damaging	Het
Aspm	C	A	1: 139,476,876 (GRCm38)	Q1315K	probably benign	Het
BC055324	T	C	1: 163,982,811 (GRCm38)		probably benign	Het
Bpifb4	A	G	2: 153,940,968 (GRCm38)	D31G	probably benign	Het
Brf1	A	G	12: 112,973,463 (GRCm38)		probably benign	Het
Card19	A	C	13: 49,208,145 (GRCm38)	D3E	probably benign	Het
Chd6	A	G	2: 160,967,902 (GRCm38)	F1480L	probably damaging	Het
Cldn25-ps	A	G	9: 49,047,633 (GRCm38)		noncoding transcript	Het
Col11a2	A	G	17: 34,057,275 (GRCm38)	N799D	probably damaging	Het
Cpb1	T	C	3: 20,266,533 (GRCm38)		probably null	Het
Cyp2g1	T	A	7: 26,814,182 (GRCm38)	I182N	probably damaging	Het
Dntt	A	T	19: 41,055,746 (GRCm38)		probably benign	Het
Dscc1	C	A	15: 55,083,570 (GRCm38)	C253F	probably benign	Het
Dysf	C	A	6: 84,113,336 (GRCm38)	F956L	probably benign	Het
Ephb6	T	C	6: 41,619,594 (GRCm38)		probably benign	Het
Fkbp6	C	T	5: 135,340,004 (GRCm38)	R234Q	probably benign	Het
Gda	T	C	19: 21,397,556 (GRCm38)	D332G	probably benign	Het
Ggt7	C	T	2: 155,494,893 (GRCm38)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,531,868 (GRCm38)	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,155,969 (GRCm38)	P124L	probably benign	Het
Gm10845	T	A	14: 79,863,204 (GRCm38)		noncoding transcript	Het
H13	A	G	2: 152,686,256 (GRCm38)	K175R	probably benign	Het
Igsf6	T	A	7: 121,074,454 (GRCm38)	I18F	probably benign	Het
Immt	A	G	6: 71,851,844 (GRCm38)	S128G	probably benign	Het
Isy1	G	A	6: 87,819,185 (GRCm38)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,825,347 (GRCm38)		probably benign	Het
L2hgdh	A	T	12: 69,705,789 (GRCm38)	Y239*	probably null	Het
Lamp1	A	G	8: 13,174,550 (GRCm38)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,540,979 (GRCm38)	N817K	possibly damaging	Het
Macf1	G	A	4: 123,408,564 (GRCm38)	T715I	probably benign	Het
Mapk12	T	C	15: 89,132,984 (GRCm38)		probably benign	Het
Mdga2	A	T	12: 66,716,706 (GRCm38)	N205K	probably damaging	Het
Nat10	A	G	2: 103,757,205 (GRCm38)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,925,322 (GRCm38)	E317G	possibly damaging	Het
Nomo1	T	C	7: 46,037,632 (GRCm38)	I72T	probably damaging	Het
Olfr1450	A	G	19: 12,954,356 (GRCm38)	I256V	probably benign	Het
Pappa2	C	T	1: 158,714,977 (GRCm38)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 100,250,373 (GRCm38)	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617 (GRCm38)		probably benign	Het
Prss34	A	T	17: 25,298,726 (GRCm38)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,976,418 (GRCm38)		probably benign	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Pygb	A	G	2: 150,806,203 (GRCm38)	D119G	probably benign	Het
Racgap1	T	C	15: 99,642,958 (GRCm38)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,435,744 (GRCm38)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,803 (GRCm38)	V705L	probably benign	Het
Rgs1	C	T	1: 144,248,549 (GRCm38)	V50M	probably benign	Het
Rgs12	C	T	5: 34,966,664 (GRCm38)	T597I	probably benign	Het
Ros1	T	C	10: 52,142,267 (GRCm38)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,473,200 (GRCm38)	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,002,223 (GRCm38)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,157,390 (GRCm38)		probably benign	Het
Smc1b	A	T	15: 85,070,819 (GRCm38)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,743,623 (GRCm38)	H476Y	unknown	Het
Strn3	A	G	12: 51,621,788 (GRCm38)	V673A	probably benign	Het
Tepsin	T	C	11: 120,091,811 (GRCm38)		probably null	Het
Tmem131l	C	T	3: 83,934,815 (GRCm38)		probably benign	Het
Tmem132c	T	C	5: 127,554,669 (GRCm38)	V664A	possibly damaging	Het
Tmprss15	T	C	16: 79,003,389 (GRCm38)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,141,265 (GRCm38)		probably benign	Het
Trpm4	A	G	7: 45,319,240 (GRCm38)		probably null	Het
Wdr70	A	T	15: 8,019,587 (GRCm38)		probably null	Het

Other mutations in Nolc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02679:Nolc1	APN	19	46,083,029 (GRCm38)	unclassified	probably benign
FR4976:Nolc1	UTSW	19	46,081,375 (GRCm38)	small insertion	probably benign
FR4976:Nolc1	UTSW	19	46,081,356 (GRCm38)	small insertion	probably benign
R0121:Nolc1	UTSW	19	46,081,378 (GRCm38)	unclassified	probably benign
R0140:Nolc1	UTSW	19	46,081,378 (GRCm38)	unclassified	probably benign
R0501:Nolc1	UTSW	19	46,078,920 (GRCm38)	missense	probably damaging	1.00
R0513:Nolc1	UTSW	19	46,084,159 (GRCm38)	missense	probably damaging	1.00
R0676:Nolc1	UTSW	19	46,080,089 (GRCm38)	splice site	probably benign
R1553:Nolc1	UTSW	19	46,081,375 (GRCm38)	small insertion	probably benign
R1642:Nolc1	UTSW	19	46,079,022 (GRCm38)	critical splice donor site	probably null
R1698:Nolc1	UTSW	19	46,081,431 (GRCm38)	splice site	probably null
R2067:Nolc1	UTSW	19	46,083,607 (GRCm38)	missense	probably damaging	1.00
R2113:Nolc1	UTSW	19	46,081,361 (GRCm38)	small insertion	probably benign
R2113:Nolc1	UTSW	19	46,081,359 (GRCm38)	small insertion	probably benign
R2300:Nolc1	UTSW	19	46,081,368 (GRCm38)	small insertion	probably benign
R2300:Nolc1	UTSW	19	46,081,359 (GRCm38)	small insertion	probably benign
R2895:Nolc1	UTSW	19	46,081,352 (GRCm38)	small insertion	probably benign
R2999:Nolc1	UTSW	19	46,083,155 (GRCm38)	small deletion	probably benign
R3737:Nolc1	UTSW	19	46,081,377 (GRCm38)	small insertion	probably benign
R3737:Nolc1	UTSW	19	46,081,353 (GRCm38)	small insertion	probably benign
R3737:Nolc1	UTSW	19	46,081,370 (GRCm38)	small insertion	probably benign
R3747:Nolc1	UTSW	19	46,081,356 (GRCm38)	small insertion	probably benign
R3806:Nolc1	UTSW	19	46,081,352 (GRCm38)	small insertion	probably benign
R3807:Nolc1	UTSW	19	46,081,352 (GRCm38)	small insertion	probably benign
R3807:Nolc1	UTSW	19	46,081,359 (GRCm38)	small insertion	probably benign
R3807:Nolc1	UTSW	19	46,081,371 (GRCm38)	small insertion	probably benign
R4035:Nolc1	UTSW	19	46,081,358 (GRCm38)	small insertion	probably benign
R4619:Nolc1	UTSW	19	46,083,520 (GRCm38)	missense	probably damaging	1.00
R4856:Nolc1	UTSW	19	46,083,155 (GRCm38)	small deletion	probably benign
R4999:Nolc1	UTSW	19	46,078,920 (GRCm38)	missense	probably damaging	1.00
R5103:Nolc1	UTSW	19	46,081,664 (GRCm38)	nonsense	probably null
R5559:Nolc1	UTSW	19	46,083,155 (GRCm38)	small deletion	probably benign
R5837:Nolc1	UTSW	19	46,083,183 (GRCm38)	unclassified	probably benign
R6457:Nolc1	UTSW	19	46,083,070 (GRCm38)	unclassified	probably benign
R7467:Nolc1	UTSW	19	46,082,334 (GRCm38)	missense	unknown
R7497:Nolc1	UTSW	19	46,082,818 (GRCm38)	missense	probably benign	0.23
R8011:Nolc1	UTSW	19	46,081,584 (GRCm38)	missense	unknown
R8806:Nolc1	UTSW	19	46,083,032 (GRCm38)	missense	unknown
RF027:Nolc1	UTSW	19	46,081,363 (GRCm38)	small insertion	probably benign
RF031:Nolc1	UTSW	19	46,081,371 (GRCm38)	small insertion	probably benign
RF034:Nolc1	UTSW	19	46,081,371 (GRCm38)	small insertion	probably benign
RF040:Nolc1	UTSW	19	46,081,363 (GRCm38)	small insertion	probably benign
RF044:Nolc1	UTSW	19	46,081,371 (GRCm38)	small insertion	probably benign
X0050:Nolc1	UTSW	19	46,081,352 (GRCm38)	small deletion	probably benign
Y5377:Nolc1	UTSW	19	46,081,369 (GRCm38)	small insertion	probably benign
Y5379:Nolc1	UTSW	19	46,081,359 (GRCm38)	small insertion	probably benign
Z1088:Nolc1	UTSW	19	46,083,098 (GRCm38)	unclassified	probably benign

Posted On

2013-01-31