Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00923:Ndrg1'

29059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndrg1

Ensembl Gene

ENSMUSG00000005125

Gene Name

N-myc downstream regulated gene 1

Synonyms

DRG1, Ndrl, PROXY1, Tdd5, Ndr1, CMT4D, TDD5, CAP43

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00923

Quality Score

Status

Chromosome

Chromosomal Location

66801167-66841489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66814959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 164 (N164K)

Ref Sequence

ENSEMBL: ENSMUSP00000126985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005256] [ENSMUST00000163496] [ENSMUST00000164070] [ENSMUST00000164675] [ENSMUST00000166420] [ENSMUST00000168542] [ENSMUST00000168979] [ENSMUST00000171266] [ENSMUST00000172447] [ENSMUST00000170903]

AlphaFold

Q62433

Predicted Effect

probably damaging
Transcript: ENSMUST00000005256
AA Change: N164K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125
AA Change: N164K

Domain	Start	End	E-Value	Type
Pfam:Ndr	34	316	4.4e-130	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163496

SMART Domains

Protein: ENSMUSP00000130584
Gene: ENSMUSG00000005125

Domain	Start	End	E-Value	Type
Pfam:Ndr	34	155	1.2e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164070

SMART Domains

Protein: ENSMUSP00000126091
Gene: ENSMUSG00000005125

Domain	Start	End	E-Value	Type
Pfam:Ndr	18	53	8.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164675

Predicted Effect

probably benign
Transcript: ENSMUST00000166420

SMART Domains

Protein: ENSMUSP00000127099
Gene: ENSMUSG00000005125

Domain	Start	End	E-Value	Type
Pfam:Ndr	17	132	1.4e-34	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000167817
AA Change: N108K

SMART Domains

Protein: ENSMUSP00000127075
Gene: ENSMUSG00000005125
AA Change: N108K

Domain	Start	End	E-Value	Type
Pfam:Ndr	1	76	1.7e-35	PFAM
Pfam:Ndr	73	119	2.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168542

Predicted Effect

probably damaging
Transcript: ENSMUST00000168979
AA Change: N164K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126985
Gene: ENSMUSG00000005125
AA Change: N164K

Domain	Start	End	E-Value	Type
Pfam:Ndr	34	174	6.3e-72	PFAM
Pfam:Abhydrolase_6	53	173	5.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171569

Predicted Effect

probably benign
Transcript: ENSMUST00000171266

Predicted Effect

probably benign
Transcript: ENSMUST00000172447

Predicted Effect

probably benign
Transcript: ENSMUST00000170903

SMART Domains

Protein: ENSMUSP00000127302
Gene: ENSMUSG00000005125

Domain	Start	End	E-Value	Type
Pfam:Ndr	34	157	1.2e-62	PFAM

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 is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous null mice exhibit a progressive demyelinating disorder of the peripheral nerves with hindlimb weakness. Mice homozygous for a different knock-out allele exhibit decreased cellular susceptibility to gamma-irradiation and increased susceptibility to spontaneous and induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 89,832,235 (GRCm39)	E956V	probably benign	Het
Adcy2	C	T	13: 68,768,915 (GRCm39)	G1071E	probably damaging	Het
Adgrv1	A	T	13: 81,530,410 (GRCm39)	V5888D	probably damaging	Het
Arhgef12	G	A	9: 42,931,920 (GRCm39)	T189I	probably damaging	Het
Cp	T	C	3: 20,024,165 (GRCm39)	L335P	probably damaging	Het
Cwf19l1	A	G	19: 44,119,849 (GRCm39)		probably null	Het
Dgki	A	T	6: 36,839,391 (GRCm39)	N933K	probably benign	Het
Dixdc1	G	T	9: 50,579,033 (GRCm39)	A660D	probably damaging	Het
Dnajc9	T	C	14: 20,435,515 (GRCm39)	D232G	probably benign	Het
Dock9	A	G	14: 121,844,504 (GRCm39)		probably benign	Het
Elp6	A	T	9: 110,139,193 (GRCm39)	T29S	probably damaging	Het
Fam8a1	T	C	13: 46,827,147 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,145,397 (GRCm39)	D2746E	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Mtss1	G	T	15: 58,815,348 (GRCm39)	N737K	possibly damaging	Het
Nbas	T	C	12: 13,386,285 (GRCm39)	V737A	possibly damaging	Het
Nrtn	A	G	17: 57,059,447 (GRCm39)	S11P	probably damaging	Het
Or4c11c	T	G	2: 88,661,456 (GRCm39)		probably null	Het
Or4f62	T	A	2: 111,987,122 (GRCm39)	D275E	possibly damaging	Het
Rab10	T	A	12: 3,303,334 (GRCm39)	M118L	probably benign	Het
Slc11a2	A	G	15: 100,295,669 (GRCm39)	V175A	probably benign	Het
Tex21	T	A	12: 76,291,885 (GRCm39)	D12V	probably damaging	Het
Ttn	T	A	2: 76,731,272 (GRCm39)		probably benign	Het
Vmn1r215	G	A	13: 23,260,419 (GRCm39)	G153D	probably damaging	Het
Zc3h4	A	G	7: 16,163,617 (GRCm39)	D612G	unknown	Het
Zfp354c	A	T	11: 50,706,440 (GRCm39)	Y212N	probably damaging	Het
Zmiz2	T	A	11: 6,352,845 (GRCm39)	M631K	probably damaging	Het

Other mutations in Ndrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Ndrg1	APN	15	66,802,900 (GRCm39)	missense	probably benign	0.01
IGL02618:Ndrg1	APN	15	66,812,086 (GRCm39)	missense	probably benign	0.03
IGL02869:Ndrg1	APN	15	66,818,346 (GRCm39)	missense	probably benign	0.01
IGL03206:Ndrg1	APN	15	66,814,936 (GRCm39)	nonsense	probably null
PIT4377001:Ndrg1	UTSW	15	66,820,288 (GRCm39)	missense	probably benign
R0328:Ndrg1	UTSW	15	66,815,008 (GRCm39)	splice site	probably benign
R1102:Ndrg1	UTSW	15	66,816,685 (GRCm39)	missense	probably damaging	1.00
R1105:Ndrg1	UTSW	15	66,812,080 (GRCm39)	missense	probably damaging	0.99
R1748:Ndrg1	UTSW	15	66,802,930 (GRCm39)	missense	possibly damaging	0.55
R1875:Ndrg1	UTSW	15	66,802,940 (GRCm39)	missense	possibly damaging	0.91
R5214:Ndrg1	UTSW	15	66,831,239 (GRCm39)	missense	probably damaging	0.99
R5809:Ndrg1	UTSW	15	66,802,699 (GRCm39)	unclassified	probably benign
R6433:Ndrg1	UTSW	15	66,805,721 (GRCm39)	missense	probably damaging	1.00
R7104:Ndrg1	UTSW	15	66,818,377 (GRCm39)	missense	probably damaging	1.00
R7412:Ndrg1	UTSW	15	66,832,382 (GRCm39)	start codon destroyed	probably null	1.00
R7424:Ndrg1	UTSW	15	66,816,787 (GRCm39)	splice site	probably null
R7667:Ndrg1	UTSW	15	66,820,243 (GRCm39)	missense	probably damaging	1.00
R9220:Ndrg1	UTSW	15	66,805,711 (GRCm39)	critical splice donor site	probably null

Posted On

2013-04-17