Mutagenetix > Incidental Mutation

Incidental Mutation 'R0409:Noc3l'

36541

Institutional Source

Beutler Lab

Gene Symbol

Noc3l

Ensembl Gene

ENSMUSG00000024999

Gene Name

NOC3 like DNA replication regulator

Synonyms

Fad24

MMRRC Submission

038611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0409 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

38776572-38807681 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 38806371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025963]

AlphaFold

Q8VI84

Predicted Effect

probably benign
Transcript: ENSMUST00000025963

SMART Domains

Protein: ENSMUSP00000025963
Gene: ENSMUSG00000024999

Domain	Start	End	E-Value	Type
low complexity region	76	103	N/A	INTRINSIC
coiled coil region	174	199	N/A	INTRINSIC
Pfam:NOC3p	212	307	1.5e-32	PFAM
coiled coil region	449	489	N/A	INTRINSIC
Pfam:CBF	554	707	2.9e-32	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality, fail to form blastocele and arrest at the morula stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,816 (GRCm39)	A89S	probably damaging	Het
Alkbh3	T	A	2: 93,831,793 (GRCm39)	I146F	possibly damaging	Het
Aox1	A	T	1: 58,375,783 (GRCm39)	I871F	possibly damaging	Het
Birc2	A	C	9: 7,819,385 (GRCm39)	V509G	possibly damaging	Het
Car7	G	A	8: 105,275,056 (GRCm39)	A165T	probably damaging	Het
Ccdc81	A	G	7: 89,535,423 (GRCm39)	V271A	probably benign	Het
Cdc40	G	T	10: 40,723,164 (GRCm39)	H302N	probably damaging	Het
Cep104	C	T	4: 154,067,510 (GRCm39)		probably benign	Het
Cfap54	C	A	10: 92,612,075 (GRCm39)	S3161I	probably benign	Het
Chil5	A	G	3: 105,942,282 (GRCm39)		probably benign	Het
Chil6	C	T	3: 106,311,492 (GRCm39)	G96D	probably benign	Het
Cnot1	T	C	8: 96,475,483 (GRCm39)	K531E	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Disp3	T	G	4: 148,356,416 (GRCm39)	E148A	probably damaging	Het
Eps8l2	A	G	7: 140,922,893 (GRCm39)	Y52C	probably damaging	Het
Exph5	C	A	9: 53,285,643 (GRCm39)	T908K	probably benign	Het
Fat4	C	T	3: 39,031,562 (GRCm39)	S2449F	probably damaging	Het
Faxc	T	A	4: 21,948,751 (GRCm39)	N154K	probably benign	Het
Fbxo43	C	T	15: 36,162,503 (GRCm39)	A235T	probably benign	Het
Fnip1	A	G	11: 54,371,180 (GRCm39)		probably null	Het
Fsd1l	T	C	4: 53,679,932 (GRCm39)	L210P	probably benign	Het
Gm6420	A	C	1: 23,295,119 (GRCm39)	S123R	unknown	Het
Gm8801	T	G	17: 36,258,268 (GRCm39)		noncoding transcript	Het
Gmfb	T	C	14: 47,053,679 (GRCm39)	I36V	probably benign	Het
Gsap	G	A	5: 21,427,443 (GRCm39)		probably benign	Het
Hectd1	T	A	12: 51,829,339 (GRCm39)	I969L	possibly damaging	Het
Il21r	G	T	7: 125,229,012 (GRCm39)		probably benign	Het
Lrrc7	A	G	3: 157,867,063 (GRCm39)	F893L	possibly damaging	Het
Map2	A	G	1: 66,472,739 (GRCm39)	I1715V	probably damaging	Het
Mlh3	A	G	12: 85,287,628 (GRCm39)	I1339T	possibly damaging	Het
Nacad	T	C	11: 6,549,810 (GRCm39)	D1127G	probably benign	Het
Nup93	A	G	8: 95,030,293 (GRCm39)	D384G	probably damaging	Het
Or5m9b	T	A	2: 85,905,646 (GRCm39)	C187*	probably null	Het
Or5p54	T	C	7: 107,554,433 (GRCm39)	I195T	probably benign	Het
Or8b40	C	T	9: 38,027,547 (GRCm39)	L152F	probably benign	Het
Pls1	A	T	9: 95,668,972 (GRCm39)		probably benign	Het
Prkcb	A	T	7: 122,024,200 (GRCm39)	H75L	probably damaging	Het
Rev1	A	T	1: 38,113,449 (GRCm39)	Y539*	probably null	Het
Rnf10	A	T	5: 115,393,506 (GRCm39)		probably benign	Het
Rnpepl1	A	G	1: 92,843,582 (GRCm39)	Y234C	probably damaging	Het
Sdk2	T	C	11: 113,741,717 (GRCm39)		probably benign	Het
Sec23b	T	A	2: 144,409,832 (GRCm39)	M240K	probably benign	Het
Sema5a	A	T	15: 32,681,755 (GRCm39)	N945Y	probably damaging	Het
Snapc4	C	A	2: 26,257,228 (GRCm39)	R799L	probably benign	Het
Spata31g1	A	C	4: 42,972,203 (GRCm39)	K512T	probably damaging	Het
Tctn3	T	C	19: 40,599,860 (GRCm39)		probably benign	Het
Tex56	A	T	13: 35,108,532 (GRCm39)	I5L	probably benign	Het
Tfpt	G	A	7: 3,623,898 (GRCm39)	Q50*	probably null	Het
Trim80	T	C	11: 115,332,039 (GRCm39)	V77A	probably damaging	Het
Trp73	T	A	4: 154,148,841 (GRCm39)	D256V	possibly damaging	Het
Utrn	G	T	10: 12,519,345 (GRCm39)	N2202K	probably benign	Het
Vps13c	T	A	9: 67,858,926 (GRCm39)	F2792Y	probably benign	Het

Other mutations in Noc3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Noc3l	APN	19	38,804,099 (GRCm39)	missense	possibly damaging	0.71
IGL03237:Noc3l	APN	19	38,803,125 (GRCm39)	splice site	probably null
R0062:Noc3l	UTSW	19	38,803,253 (GRCm39)	missense	probably benign	0.01
R0306:Noc3l	UTSW	19	38,796,094 (GRCm39)	missense	probably damaging	0.96
R0427:Noc3l	UTSW	19	38,778,095 (GRCm39)	missense	probably benign
R0478:Noc3l	UTSW	19	38,798,450 (GRCm39)	critical splice donor site	probably null
R4714:Noc3l	UTSW	19	38,804,157 (GRCm39)	missense	probably benign	0.00
R4720:Noc3l	UTSW	19	38,778,066 (GRCm39)	missense	probably benign	0.00
R4857:Noc3l	UTSW	19	38,781,244 (GRCm39)	critical splice acceptor site	probably null
R4864:Noc3l	UTSW	19	38,778,081 (GRCm39)	missense	probably benign
R5511:Noc3l	UTSW	19	38,782,625 (GRCm39)	missense	probably benign	0.32
R5586:Noc3l	UTSW	19	38,803,139 (GRCm39)	missense	possibly damaging	0.81
R6144:Noc3l	UTSW	19	38,787,399 (GRCm39)	missense	probably damaging	1.00
R6257:Noc3l	UTSW	19	38,784,349 (GRCm39)	splice site	probably null
R7095:Noc3l	UTSW	19	38,800,789 (GRCm39)	missense	probably benign	0.01
R7256:Noc3l	UTSW	19	38,800,800 (GRCm39)	missense	probably benign	0.03
R7343:Noc3l	UTSW	19	38,783,468 (GRCm39)	missense	probably damaging	0.99
R7937:Noc3l	UTSW	19	38,783,447 (GRCm39)	missense	possibly damaging	0.71
R8049:Noc3l	UTSW	19	38,800,873 (GRCm39)	missense	probably benign
R8313:Noc3l	UTSW	19	38,784,254 (GRCm39)	missense	probably damaging	1.00
R8398:Noc3l	UTSW	19	38,783,554 (GRCm39)	missense	probably benign	0.22
R8422:Noc3l	UTSW	19	38,795,547 (GRCm39)	missense	probably benign	0.08
R8888:Noc3l	UTSW	19	38,798,751 (GRCm39)	missense	probably damaging	0.97
R8895:Noc3l	UTSW	19	38,798,751 (GRCm39)	missense	probably damaging	0.97
R9092:Noc3l	UTSW	19	38,798,487 (GRCm39)	missense	probably damaging	0.99
R9149:Noc3l	UTSW	19	38,800,835 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGTCTATGCCAACGAAAAGGAG -3'
(R):5'- TTACACAGGACCCGTGGTTGTGAG -3'

Sequencing Primer
(F):5'- ACAGGGCATATGGTCTTGCA -3'
(R):5'- AGCAGGTCCCAAGCTTTC -3'

Posted On

2013-05-09