Mutagenetix > Incidental Mutation

Incidental Mutation 'R1587:Noc4l'

177559

Institutional Source

Beutler Lab

Gene Symbol

Noc4l

Ensembl Gene

ENSMUSG00000033294

Gene Name

NOC4 like

Synonyms

MMRRC Submission

039624-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1587 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

110796285-110801248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110800889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000038263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031478] [ENSMUST00000042147] [ENSMUST00000148773]

AlphaFold

Q8BHY2

Predicted Effect

probably benign
Transcript: ENSMUST00000031478

SMART Domains

Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504

Domain	Start	End	E-Value	Type
low complexity region	50	75	N/A	INTRINSIC
DEXDc	189	442	4.04e-40	SMART
HELICc	491	573	2.86e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042147
AA Change: T76A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
AA Change: T76A

Domain	Start	End	E-Value	Type
Pfam:CBF	305	453	2.7e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199795

Predicted Effect

probably benign
Transcript: ENSMUST00000148773

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,473,585 (GRCm39)	S111T	probably benign	Het
Abhd2	A	T	7: 79,003,758 (GRCm39)	H279L	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Agrn	T	C	4: 156,263,897 (GRCm39)	Q122R	probably damaging	Het
Arfgef1	A	T	1: 10,230,184 (GRCm39)	F1218I	probably damaging	Het
Bud13	C	T	9: 46,201,513 (GRCm39)	P395S	probably damaging	Het
Ccdc110	G	A	8: 46,394,783 (GRCm39)	V225M	probably benign	Het
Ccdc30	A	T	4: 119,210,373 (GRCm39)	S248T	probably damaging	Het
Cdh20	C	A	1: 110,027,757 (GRCm39)	Q501K	probably damaging	Het
Cwc27	T	C	13: 104,929,145 (GRCm39)	D266G	probably benign	Het
Cyp2d40	T	A	15: 82,645,334 (GRCm39)		probably null	Het
Cyp4a32	T	G	4: 115,467,731 (GRCm39)	N238K	probably benign	Het
Ddx11	T	C	17: 66,456,251 (GRCm39)	L770P	probably damaging	Het
Dgcr8	C	T	16: 18,098,155 (GRCm39)	G412E	probably damaging	Het
Disp2	C	A	2: 118,622,064 (GRCm39)	A932D	probably damaging	Het
Dlg4	T	A	11: 69,922,572 (GRCm39)	N291K	possibly damaging	Het
Dnajc7	A	G	11: 100,492,556 (GRCm39)	I39T	probably damaging	Het
Elp1	G	A	4: 56,786,666 (GRCm39)	Q426*	probably null	Het
Eno3	T	C	11: 70,552,296 (GRCm39)	V316A	probably damaging	Het
Ep400	G	A	5: 110,874,768 (GRCm39)	T944I	probably benign	Het
Ezh2	T	G	6: 47,529,424 (GRCm39)		probably null	Het
F7	A	T	8: 13,084,783 (GRCm39)	I270F	possibly damaging	Het
Fancc	A	G	13: 63,488,246 (GRCm39)	F245L	probably benign	Het
Fzd7	G	A	1: 59,522,165 (GRCm39)	C16Y	possibly damaging	Het
Gm29394	A	G	15: 57,892,008 (GRCm39)	*200Q	probably null	Het
Ints8	A	G	4: 11,245,722 (GRCm39)		probably null	Het
Krt36	A	T	11: 99,993,128 (GRCm39)	I449N	probably damaging	Het
Ldlr	A	T	9: 21,649,209 (GRCm39)	H328L	probably damaging	Het
Limk2	T	C	11: 3,303,455 (GRCm39)	N101S	possibly damaging	Het
Lrp4	A	G	2: 91,306,650 (GRCm39)	N321S	probably benign	Het
Mafk	T	C	5: 139,785,900 (GRCm39)	S33P	probably damaging	Het
Mbtps1	T	C	8: 120,244,958 (GRCm39)	Y831C	probably damaging	Het
Mfge8	T	A	7: 78,784,513 (GRCm39)	I344F	probably damaging	Het
Myo5b	T	C	18: 74,867,061 (GRCm39)	V1430A	probably benign	Het
Nbas	G	A	12: 13,608,686 (GRCm39)	R2154H	probably benign	Het
Nlrp6	G	A	7: 140,502,959 (GRCm39)	R355H	probably damaging	Het
Nrp1	T	A	8: 129,202,763 (GRCm39)	C583S	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or5d35	T	A	2: 87,855,477 (GRCm39)	M137K	probably damaging	Het
Pgm5	T	A	19: 24,793,113 (GRCm39)	I318F	probably damaging	Het
Phf1	T	A	17: 27,156,466 (GRCm39)	V536D	probably damaging	Het
Prpf4b	C	A	13: 35,076,133 (GRCm39)	A641D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm47	A	G	5: 66,182,334 (GRCm39)	I433T	probably benign	Het
Resf1	G	T	6: 149,228,018 (GRCm39)	V355F	probably damaging	Het
S100a3	G	A	3: 90,509,618 (GRCm39)	E88K	probably benign	Het
Sesn1	A	G	10: 41,687,108 (GRCm39)	I31V	probably benign	Het
Son	T	A	16: 91,456,606 (GRCm39)	S1784R	probably damaging	Het
Srbd1	G	T	17: 86,292,865 (GRCm39)	D901E	probably damaging	Het
St8sia6	C	T	2: 13,677,416 (GRCm39)	D134N	possibly damaging	Het
Synpo2	T	A	3: 122,908,047 (GRCm39)	D423V	probably damaging	Het
Vmn2r108	A	G	17: 20,692,383 (GRCm39)	S158P	probably damaging	Het
Vmn2r109	A	T	17: 20,761,002 (GRCm39)	V785E	probably damaging	Het
Zfp143	A	G	7: 109,673,275 (GRCm39)	D124G	probably benign	Het
Zfp251	A	G	15: 76,754,484 (GRCm39)	L54P	probably damaging	Het
Zfp324	G	T	7: 12,704,570 (GRCm39)	S253I	possibly damaging	Het
Zfp59	A	G	7: 27,553,559 (GRCm39)	E337G	possibly damaging	Het
Zfp663	G	T	2: 165,195,437 (GRCm39)	Q261K	probably benign	Het
Zhx3	T	C	2: 160,623,613 (GRCm39)		probably null	Het

Other mutations in Noc4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Noc4l	APN	5	110,796,824 (GRCm39)	missense	probably damaging	0.99
IGL02249:Noc4l	APN	5	110,801,081 (GRCm39)	unclassified	probably benign
wood	UTSW	5	110,796,758 (GRCm39)	missense	possibly damaging	0.94
PIT4280001:Noc4l	UTSW	5	110,799,305 (GRCm39)	missense	probably benign	0.38
R0326:Noc4l	UTSW	5	110,800,241 (GRCm39)	nonsense	probably null
R0544:Noc4l	UTSW	5	110,798,989 (GRCm39)	missense	possibly damaging	0.71
R1196:Noc4l	UTSW	5	110,798,450 (GRCm39)	missense	probably damaging	0.97
R1496:Noc4l	UTSW	5	110,797,944 (GRCm39)	missense	probably damaging	1.00
R1699:Noc4l	UTSW	5	110,797,713 (GRCm39)	nonsense	probably null
R2113:Noc4l	UTSW	5	110,798,425 (GRCm39)	missense	possibly damaging	0.88
R2874:Noc4l	UTSW	5	110,796,969 (GRCm39)	missense	probably benign	0.00
R4080:Noc4l	UTSW	5	110,797,738 (GRCm39)	missense	probably benign	0.01
R5097:Noc4l	UTSW	5	110,799,212 (GRCm39)	missense	probably benign
R5875:Noc4l	UTSW	5	110,799,176 (GRCm39)	critical splice donor site	probably null
R6903:Noc4l	UTSW	5	110,797,461 (GRCm39)	missense	probably damaging	1.00
R7328:Noc4l	UTSW	5	110,796,789 (GRCm39)	missense	possibly damaging	0.89
R7816:Noc4l	UTSW	5	110,797,539 (GRCm39)	missense	probably benign	0.44
R8379:Noc4l	UTSW	5	110,798,828 (GRCm39)	missense	probably damaging	1.00
R8770:Noc4l	UTSW	5	110,796,758 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTGTGAGTGAGTGAAAACGGCTAC -3'
(R):5'- AACGCGGTGTTCGACATCTTGG -3'

Sequencing Primer
(F):5'- GTCCTGGCAAGTATACGGATCTC -3'
(R):5'- ACATCTTGGCTGTGCTTCAG -3'

Posted On

2014-04-24