Mutagenetix > Incidental Mutation

Incidental Mutation 'R6903:Noc4l'

538631

Institutional Source

Beutler Lab

Gene Symbol

Noc4l

Ensembl Gene

ENSMUSG00000033294

Gene Name

NOC4 like

Synonyms

MMRRC Submission

044996-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110796285-110801248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110797461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 391 (I391T)

Ref Sequence

ENSEMBL: ENSMUSP00000038263 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000042147
AA Change: I391T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
AA Change: I391T

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

Meta Mutation Damage Score

0.5445

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,143,952 (GRCm39)	L15Q	probably benign	Het
Acsf2	T	C	11: 94,450,417 (GRCm39)	M497V	probably benign	Het
Adnp2	T	C	18: 80,173,305 (GRCm39)	N368S	probably benign	Het
BC034090	T	C	1: 155,097,131 (GRCm39)	T656A	probably benign	Het
Bsph1	A	G	7: 13,192,183 (GRCm39)	Y26C	probably damaging	Het
Cct7	T	C	6: 85,443,675 (GRCm39)	F306L	probably benign	Het
Cd109	A	G	9: 78,543,885 (GRCm39)	Q143R	probably damaging	Het
Cfap46	A	T	7: 139,234,477 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,371,148 (GRCm39)	N436D	probably damaging	Het
Col6a3	T	C	1: 90,721,929 (GRCm39)	E1498G	probably damaging	Het
Cyp2u1	T	C	3: 131,096,424 (GRCm39)	D118G	probably benign	Het
Dek	A	G	13: 47,251,663 (GRCm39)	S51P	possibly damaging	Het
Dock6	C	T	9: 21,720,860 (GRCm39)	G1746D	probably damaging	Het
Dscam	T	A	16: 96,621,988 (GRCm39)	N488Y	probably damaging	Het
Ebpl	G	T	14: 61,597,693 (GRCm39)	Y49*	probably null	Het
Eefsec	C	T	6: 88,423,265 (GRCm39)	G66D	probably benign	Het
Epha6	T	A	16: 60,346,825 (GRCm39)	Y146F	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Frmd4a	A	G	2: 4,591,267 (GRCm39)	R96G	probably damaging	Het
Gm5814	A	G	17: 47,721,352 (GRCm39)		probably benign	Het
Hspa13	C	G	16: 75,554,872 (GRCm39)	V405L	probably damaging	Het
Iqgap2	A	G	13: 95,797,565 (GRCm39)	V1079A	probably damaging	Het
Kcnj9	C	A	1: 172,153,623 (GRCm39)	R167L	probably damaging	Het
Kdm1b	T	A	13: 47,227,880 (GRCm39)	D620E	probably benign	Het
Kif23	T	C	9: 61,834,436 (GRCm39)	R442G	possibly damaging	Het
Nectin1	C	A	9: 43,703,179 (GRCm39)	P146T	possibly damaging	Het
Npr1	C	A	3: 90,362,452 (GRCm39)	R956L	possibly damaging	Het
Or11g7	T	A	14: 50,691,412 (GRCm39)	M301K	possibly damaging	Het
Or11j4	T	A	14: 50,631,089 (GRCm39)	M292K	possibly damaging	Het
Pcdhgb2	T	C	18: 37,825,223 (GRCm39)	V738A	possibly damaging	Het
Ptpn20	A	G	14: 33,336,461 (GRCm39)	E100G	probably damaging	Het
Rgs10	A	G	7: 127,990,797 (GRCm39)	F97S	probably damaging	Het
Shisa6	T	C	11: 66,265,982 (GRCm39)		probably null	Het
Shld1	A	T	2: 132,592,564 (GRCm39)	K204*	probably null	Het
Sirpb1a	T	C	3: 15,481,984 (GRCm39)	T115A	probably damaging	Het
Supv3l1	A	G	10: 62,277,016 (GRCm39)	C251R	probably damaging	Het
Svopl	T	C	6: 37,998,543 (GRCm39)	S244G	probably benign	Het
Tes	T	C	6: 17,099,862 (GRCm39)	Y286H	probably damaging	Het
Tnfrsf22	G	A	7: 143,193,641 (GRCm39)		probably benign	Het
Vmn1r185	A	G	7: 26,311,160 (GRCm39)	I115T	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,552 (GRCm39)	T703A	possibly damaging	Het
Zan	T	A	5: 137,454,566 (GRCm39)	I1413L	unknown	Het
Zc3h12d	G	T	10: 7,743,425 (GRCm39)	M398I	probably benign	Het
Zfp219	G	A	14: 52,244,118 (GRCm39)	T642M	probably benign	Het
Zfp646	G	A	7: 127,479,892 (GRCm39)	E690K	possibly damaging	Het
Zfr	T	A	15: 12,136,541 (GRCm39)	V66D	unknown	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
R1587:Noc4l	UTSW	5	110,800,889 (GRCm39)	missense	probably benign
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
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'- TCTCCGTTGGGTCATATGGATC -3'
(R):5'- CCTTTCATCCTCGTGAGTGTGG -3'

Sequencing Primer
(F):5'- GGTCATATGGATCAGCATCTAGC -3'
(R):5'- TCATCCGTCAGGGCTGCAG -3'

Posted On

2018-11-06