Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01399:Noc3l'

79551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Noc3l

Ensembl Gene

ENSMUSG00000024999

Gene Name

NOC3 like DNA replication regulator

Synonyms

Fad24

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01399

Quality Score

Status

Chromosome

Chromosomal Location

38776572-38807681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38804099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 93 (D93G)

Ref Sequence

ENSEMBL: ENSMUSP00000025963 (fasta)

Gene Model

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

AlphaFold

Q8VI84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025963
AA Change: D93G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025963
Gene: ENSMUSG00000024999
AA Change: D93G

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asic4	T	A	1: 75,445,790 (GRCm39)	N206K	possibly damaging	Het
Bsn	A	G	9: 107,984,386 (GRCm39)	Y3223H	unknown	Het
Btaf1	C	T	19: 36,977,570 (GRCm39)	R1463*	probably null	Het
Ccdc146	A	G	5: 21,499,611 (GRCm39)	I857T	possibly damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Chd5	T	C	4: 152,441,144 (GRCm39)	W195R	probably damaging	Het
Cntn1	A	G	15: 92,203,025 (GRCm39)	Y769C	probably damaging	Het
Cwc22	T	C	2: 77,747,408 (GRCm39)	E435G	probably benign	Het
Dct	A	G	14: 118,273,890 (GRCm39)	F339S	probably damaging	Het
Ddx54	G	T	5: 120,761,968 (GRCm39)	E554*	probably null	Het
Dock3	G	T	9: 106,870,670 (GRCm39)	S581R	probably benign	Het
Dst	A	G	1: 34,156,598 (GRCm39)	H176R	probably benign	Het
Emc8	A	G	8: 121,385,745 (GRCm39)	M123T	probably damaging	Het
Evc	T	A	5: 37,490,357 (GRCm39)	D55V	probably damaging	Het
Gm5424	A	G	10: 61,907,272 (GRCm39)		noncoding transcript	Het
Gpr149	A	T	3: 62,511,852 (GRCm39)	L49Q	probably damaging	Het
Hcfc1	C	T	X: 72,993,515 (GRCm39)	V1217I	possibly damaging	Het
Hoxa4	G	T	6: 52,167,393 (GRCm39)	Q263K	probably damaging	Het
Ift172	T	C	5: 31,423,592 (GRCm39)	E790G	probably benign	Het
Ipp	A	G	4: 116,372,384 (GRCm39)	N138D	probably damaging	Het
Isg20	A	T	7: 78,569,836 (GRCm39)	T158S	possibly damaging	Het
Klf17	A	G	4: 117,616,356 (GRCm39)	F325S	probably damaging	Het
Lilrb4a	T	C	10: 51,370,161 (GRCm39)	L233P	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,651,470 (GRCm39)	L1544Q	probably damaging	Het
Nexmif	T	A	X: 103,130,786 (GRCm39)	D377V	probably damaging	Het
Nobox	T	C	6: 43,280,972 (GRCm39)	T501A	probably benign	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nup205	T	C	6: 35,196,624 (GRCm39)	I1120T	possibly damaging	Het
Or5b96	A	T	19: 12,867,803 (GRCm39)	M46K	probably benign	Het
Or5h18	C	T	16: 58,847,629 (GRCm39)	V214I	probably benign	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Selenof	C	T	3: 144,302,669 (GRCm39)	T148I	probably damaging	Het
Sgce	C	A	6: 4,746,997 (GRCm39)	G31V	probably damaging	Het
Slc35e1	C	A	8: 73,238,534 (GRCm39)	A325S	probably damaging	Het
Slc4a4	A	G	5: 89,376,794 (GRCm39)	D1016G	probably damaging	Het
Synj2	T	G	17: 6,060,046 (GRCm39)	C149W	probably damaging	Het
Tecpr1	A	G	5: 144,145,411 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,594,164 (GRCm39)		probably null	Het
Vmn2r63	T	A	7: 42,553,543 (GRCm39)	K571M	probably damaging	Het
Wdr53	A	G	16: 32,070,718 (GRCm39)	D21G	possibly damaging	Het
Zbtb3	T	C	19: 8,780,819 (GRCm39)	L144S	probably damaging	Het
Zfp185	T	A	X: 72,043,654 (GRCm39)	S154T	probably damaging	Het

Other mutations in Noc3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-05