Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03013:Nde1'

407857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nde1

Ensembl Gene

ENSMUSG00000022678

Gene Name

nudE neurodevelopment protein 1

Synonyms

mNudE, 2810027M15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

IGL03013

Quality Score

Status

Chromosome

Chromosomal Location

13981139-14010792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14009611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 324 (P324L)

Ref Sequence

ENSEMBL: ENSMUSP00000023359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023359] [ENSMUST00000090287] [ENSMUST00000115795] [ENSMUST00000117958] [ENSMUST00000132316] [ENSMUST00000149232] [ENSMUST00000230397] [ENSMUST00000231567]

AlphaFold

Q9CZA6

Predicted Effect

probably benign
Transcript: ENSMUST00000023359
AA Change: P324L

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

SMART Domains

Protein: ENSMUSP00000023359
Gene: ENSMUSG00000022678
AA Change: P324L

Domain	Start	End	E-Value	Type
low complexity region	47	56	N/A	INTRINSIC
Pfam:NUDE_C	134	312	1.7e-50	PFAM
low complexity region	324	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090287

SMART Domains

Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	33	73	1e-15	PFAM
MYSc	79	784	N/A	SMART
IQ	785	807	1.09e-2	SMART
Pfam:Myosin_tail_1	848	1928	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115795

SMART Domains

Protein: ENSMUSP00000111461
Gene: ENSMUSG00000022678

Domain	Start	End	E-Value	Type
low complexity region	47	56	N/A	INTRINSIC
Pfam:NUDE_C	134	317	1.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117958

SMART Domains

Protein: ENSMUSP00000112817
Gene: ENSMUSG00000022678

Domain	Start	End	E-Value	Type
low complexity region	47	56	N/A	INTRINSIC
Pfam:NUDE_C	134	317	9.8e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127801

Predicted Effect

probably benign
Transcript: ENSMUST00000132316

SMART Domains

Protein: ENSMUSP00000118005
Gene: ENSMUSG00000022678

Domain	Start	End	E-Value	Type
PDB:2V71\|B	8	79	2e-14	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000149232

SMART Domains

Protein: ENSMUSP00000119355
Gene: ENSMUSG00000022678

Domain	Start	End	E-Value	Type
Pfam:NUDE_C	1	167	8.6e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156041

Predicted Effect

probably benign
Transcript: ENSMUST00000230397

Predicted Effect

probably benign
Transcript: ENSMUST00000231567

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mutants have a small brain with fewer neurons in the cerebral cortex and very thin superficial cortical layers. [provided by MGI curators]

Allele List at MGI

All alleles(37) : Targeted, knock-out(1) Gene trapped(36)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
B3galt6	G	A	4: 156,076,215 (GRCm39)	Q287*	probably null	Het
C2	A	G	17: 35,091,435 (GRCm39)	V353A	probably damaging	Het
Cntnap2	A	T	6: 47,072,483 (GRCm39)	Y1017F	possibly damaging	Het
Copz1	T	A	15: 103,204,995 (GRCm39)	M118K	probably benign	Het
Dnm1	T	C	2: 32,226,296 (GRCm39)	N298D	probably benign	Het
Exog	T	C	9: 119,291,679 (GRCm39)	S295P	possibly damaging	Het
Ext2	A	T	2: 93,537,571 (GRCm39)		probably benign	Het
Garin5b	A	G	7: 4,761,632 (GRCm39)	L360S	probably benign	Het
Gpatch8	T	C	11: 102,399,023 (GRCm39)	I70V	unknown	Het
Krt5	T	A	15: 101,620,103 (GRCm39)	I205L	probably benign	Het
Leng9	A	G	7: 4,151,737 (GRCm39)	V313A	probably damaging	Het
Macrod2	A	G	2: 141,357,147 (GRCm39)	I148V	probably benign	Het
Mapk14	G	T	17: 28,947,323 (GRCm39)		probably benign	Het
Mfsd4b3-ps	A	T	10: 39,823,891 (GRCm39)	M123K	probably benign	Het
Mmp8	A	G	9: 7,561,690 (GRCm39)	D205G	probably benign	Het
Muc5b	A	T	7: 141,417,665 (GRCm39)	H3537L	possibly damaging	Het
Nlrp9b	A	T	7: 19,782,750 (GRCm39)	H888L	probably damaging	Het
Npy2r	A	G	3: 82,447,819 (GRCm39)	F319L	probably damaging	Het
Nup210	A	G	6: 91,030,361 (GRCm39)	V156A	probably benign	Het
Nxph2	T	C	2: 23,289,945 (GRCm39)	I99T	probably benign	Het
Parpbp	A	G	10: 87,975,840 (GRCm39)	I91T	probably damaging	Het
Pld2	A	G	11: 70,432,003 (GRCm39)	Y75C	probably damaging	Het
Pramel12	A	G	4: 143,144,037 (GRCm39)	T128A	possibly damaging	Het
Pramel33	A	T	5: 93,630,391 (GRCm39)	S394T	probably damaging	Het
Prkcb	C	A	7: 122,226,905 (GRCm39)	D630E	probably damaging	Het
Prl3c1	T	C	13: 27,383,349 (GRCm39)	V5A	probably benign	Het
Ro60	A	G	1: 143,646,446 (GRCm39)	S100P	probably damaging	Het
Sdcbp2	A	G	2: 151,429,255 (GRCm39)	T192A	probably benign	Het
Sema6a	C	T	18: 47,381,461 (GRCm39)	A1046T	probably benign	Het
Serpinb3a	A	G	1: 106,973,813 (GRCm39)	F366S	probably damaging	Het
Serpinb9d	T	A	13: 33,380,521 (GRCm39)	W136R	probably damaging	Het
Smc2	G	T	4: 52,442,280 (GRCm39)	V66F	probably damaging	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Syne2	C	T	12: 75,976,111 (GRCm39)	A1187V	probably benign	Het
Unc5cl	G	A	17: 48,772,049 (GRCm39)	M442I	possibly damaging	Het

Other mutations in Nde1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
A4554:Nde1	UTSW	16	14,006,274 (GRCm39)	splice site	probably benign
PIT4515001:Nde1	UTSW	16	13,988,357 (GRCm39)	critical splice donor site	probably null
R1473:Nde1	UTSW	16	14,003,728 (GRCm39)	missense	probably benign	0.07
R2014:Nde1	UTSW	16	13,987,321 (GRCm39)	start gained	probably benign
R2015:Nde1	UTSW	16	13,987,321 (GRCm39)	start gained	probably benign
R4426:Nde1	UTSW	16	14,006,200 (GRCm39)	missense	possibly damaging	0.94
R5116:Nde1	UTSW	16	14,001,351 (GRCm39)	missense	probably benign	0.19
R5646:Nde1	UTSW	16	13,987,378 (GRCm39)	missense	probably damaging	1.00
R6770:Nde1	UTSW	16	14,006,242 (GRCm39)	missense	probably damaging	1.00
R7722:Nde1	UTSW	16	14,008,128 (GRCm39)	missense	unknown
R8856:Nde1	UTSW	16	14,001,446 (GRCm39)	missense
R9405:Nde1	UTSW	16	14,006,255 (GRCm39)	missense	probably damaging	1.00
R9574:Nde1	UTSW	16	13,988,345 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02