Mutagenetix > Incidental Mutation

Incidental Mutation 'R7937:Noc3l'

648837

Institutional Source

Beutler Lab

Gene Symbol

Noc3l

Ensembl Gene

ENSMUSG00000024999

Gene Name

NOC3 like DNA replication regulator

Synonyms

Fad24

MMRRC Submission

045983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7937 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38776572-38807681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 38783447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 643 (G643A)

Ref Sequence

ENSEMBL: ENSMUSP00000025963 (fasta)

Gene Model

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

AlphaFold

Q8VI84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025963
AA Change: G643A

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025963
Gene: ENSMUSG00000024999
AA Change: G643A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,870,470 (GRCm39)	T875K	probably damaging	Het
Armc8	G	A	9: 99,418,272 (GRCm39)	T94I	probably damaging	Het
Ash1l	C	T	3: 88,977,624 (GRCm39)	R2685*	probably null	Het
Bri3bp	A	T	5: 125,531,395 (GRCm39)	N114Y	probably damaging	Het
Camkk2	G	T	5: 122,902,097 (GRCm39)	Q71K	probably benign	Het
Cc2d2b	T	C	19: 40,765,736 (GRCm39)	F49S		Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Chd8	A	G	14: 52,464,963 (GRCm39)	F633L	probably benign	Het
Clec2m	A	G	6: 129,307,974 (GRCm39)	W32R	possibly damaging	Het
Cntn5	G	A	9: 9,748,450 (GRCm39)	T477I	probably damaging	Het
Cyp2c37	T	A	19: 39,982,202 (GRCm39)	Y68N	probably damaging	Het
Dnah2	A	T	11: 69,408,511 (GRCm39)	L53*	probably null	Het
Dnajc11	A	G	4: 152,034,909 (GRCm39)	D44G	probably damaging	Het
Elovl3	T	C	19: 46,123,168 (GRCm39)	F248S	probably damaging	Het
Etfdh	A	G	3: 79,517,123 (GRCm39)	L422P	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fgd4	A	G	16: 16,287,637 (GRCm39)	Y355H	probably damaging	Het
Fgfr2	A	G	7: 129,820,823 (GRCm39)	M237T	probably damaging	Het
Gdap1	A	T	1: 17,230,177 (GRCm39)	K203N	probably benign	Het
Glis1	A	G	4: 107,484,723 (GRCm39)	D594G	possibly damaging	Het
Gm4787	T	A	12: 81,424,679 (GRCm39)	H493L	probably benign	Het
Gpatch3	G	T	4: 133,310,308 (GRCm39)	V418L	probably damaging	Het
Greb1	T	C	12: 16,766,670 (GRCm39)	N376S	probably damaging	Het
Hspg2	A	G	4: 137,278,243 (GRCm39)	Q3010R	probably benign	Het
Ice2	T	A	9: 69,318,067 (GRCm39)	F223I	possibly damaging	Het
Marchf11	A	G	15: 26,409,323 (GRCm39)	T341A	probably damaging	Het
Mllt10	A	G	2: 18,210,895 (GRCm39)	K770E	probably damaging	Het
Mug1	A	G	6: 121,838,128 (GRCm39)	T453A	probably benign	Het
Myh15	C	T	16: 48,976,009 (GRCm39)	T1359I	probably benign	Het
Nbn	A	G	4: 15,958,080 (GRCm39)	K3E	probably damaging	Het
Nlrp4a	T	C	7: 26,163,571 (GRCm39)	F913L	probably benign	Het
Nlrx1	G	T	9: 44,176,086 (GRCm39)	A48D	probably damaging	Het
Or4f14b	T	C	2: 111,774,875 (GRCm39)	R309G	probably benign	Het
Or8c17	T	A	9: 38,180,344 (GRCm39)	N170K	probably benign	Het
Pde6b	G	T	5: 108,567,639 (GRCm39)		probably null	Het
Phactr1	A	G	13: 43,231,205 (GRCm39)	I247V	unknown	Het
Pid1	G	T	1: 84,093,745 (GRCm39)	Q48K	probably benign	Het
Ppfia2	A	G	10: 106,699,233 (GRCm39)	N794S	probably benign	Het
Ppox	G	A	1: 171,107,546 (GRCm39)	S123L	possibly damaging	Het
Ptprd	A	C	4: 76,013,772 (GRCm39)	D778E	probably benign	Het
Rgs13	A	G	1: 144,016,600 (GRCm39)	Y48H	probably damaging	Het
Rgs17	T	A	10: 5,783,078 (GRCm39)	M190L	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Scaf8	C	T	17: 3,247,482 (GRCm39)	P935L	probably damaging	Het
Slc22a6	T	C	19: 8,601,253 (GRCm39)	I435T	probably benign	Het
Slc34a1	A	G	13: 23,996,648 (GRCm39)	H51R	probably benign	Het
Snx4	T	C	16: 33,112,199 (GRCm39)	L378P	probably damaging	Het
Spns1	A	G	7: 125,973,226 (GRCm39)	L155P	probably damaging	Het
St8sia4	T	C	1: 95,581,320 (GRCm39)	T141A	possibly damaging	Het
Syt10	A	T	15: 89,666,820 (GRCm39)	S510R	probably damaging	Het
Tmprss11d	A	T	5: 86,457,349 (GRCm39)	F241L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,816 (GRCm39)	T143S	probably benign	Het
Trim72	A	G	7: 127,609,491 (GRCm39)	N431S	probably benign	Het
Usp43	A	G	11: 67,746,615 (GRCm39)	S1031P	probably damaging	Het
Wdr75	A	G	1: 45,858,799 (GRCm39)	Y656C	probably benign	Het
Zfp28	T	C	7: 6,396,785 (GRCm39)	C407R	probably damaging	Het
Zfp804b	C	T	5: 6,821,866 (GRCm39)	R399Q	possibly damaging	Het
Zfp949	T	A	9: 88,451,323 (GRCm39)	C298S	probably damaging	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
R0409:Noc3l	UTSW	19	38,806,371 (GRCm39)	splice site	probably benign
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
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'- CAGTAACGAGAGCACACCTG -3'
(R):5'- CCTGAAGGACGTCTGTTTTAGG -3'

Sequencing Primer
(F):5'- TGAGCAGTCTTTCAGCATCAG -3'
(R):5'- GTTTTAGGTGCCACCAACGAC -3'

Posted On

2020-09-15