Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4377001:Ndrg1'

554950

Institutional Source

Beutler Lab

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 #

PIT4377001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66801167-66841489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66820288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 49 (C49R)

Ref Sequence

ENSEMBL: ENSMUSP00000005256 (fasta)

Gene Model

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

AlphaFold

Q62433

Predicted Effect

probably benign
Transcript: ENSMUST00000005256
AA Change: C49R

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

SMART Domains

Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125
AA Change: C49R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163496
AA Change: C49R

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

SMART Domains

Protein: ENSMUSP00000130584
Gene: ENSMUSG00000005125
AA Change: C49R

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

SMART Domains

Protein: ENSMUSP00000127075
Gene: ENSMUSG00000005125
AA Change: C14R

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 benign
Transcript: ENSMUST00000168979
AA Change: C49R

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

SMART Domains

Protein: ENSMUSP00000126985
Gene: ENSMUSG00000005125
AA Change: C49R

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

probably benign
Transcript: ENSMUST00000170903
AA Change: C49R

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

SMART Domains

Protein: ENSMUSP00000127302
Gene: ENSMUSG00000005125
AA Change: C49R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171266

Predicted Effect

probably benign
Transcript: ENSMUST00000172447

Coding Region Coverage

1x: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	T	C	4: 39,451,129 (GRCm39)	C112R	possibly damaging	Het
Acadl	G	A	1: 66,877,564 (GRCm39)	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,677,104 (GRCm39)	L1909P	probably damaging	Het
Aff3	A	C	1: 38,578,044 (GRCm39)	V31G	probably damaging	Het
Bag3	A	G	7: 128,147,441 (GRCm39)	D352G	probably damaging	Het
Bcas3	A	T	11: 85,386,668 (GRCm39)	T368S	probably damaging	Het
Bmp3	A	G	5: 99,027,608 (GRCm39)	I434V	unknown	Het
Casq1	T	A	1: 172,039,568 (GRCm39)	T336S	probably benign	Het
Cib2	T	G	9: 54,467,271 (GRCm39)	E11A	probably damaging	Het
Cttn	C	A	7: 143,993,833 (GRCm39)	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,406,795 (GRCm39)	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,532,837 (GRCm39)	A586T	probably benign	Het
Defb1	C	A	8: 22,266,716 (GRCm39)	Q17K	possibly damaging	Het
Dgat2	T	C	7: 98,806,342 (GRCm39)	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,571,404 (GRCm39)	F732Y	probably damaging	Het
Dock2	T	G	11: 34,611,835 (GRCm39)	D176A	probably benign	Het
Epha6	A	G	16: 60,025,915 (GRCm39)	I509T	probably damaging	Het
Fblim1	C	T	4: 141,322,720 (GRCm39)	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,050,795 (GRCm39)	H371L	probably benign	Het
Foxa1	T	A	12: 57,589,567 (GRCm39)	I218F	probably damaging	Het
Fstl1	A	T	16: 37,636,167 (GRCm39)	I53F	probably benign	Het
Gdnf	A	G	15: 7,864,011 (GRCm39)	R141G	probably benign	Het
Gemin7	G	A	7: 19,299,242 (GRCm39)	R118*	probably null	Het
Gm43218	T	C	6: 70,217,565 (GRCm39)	T64A	probably benign	Het
Gnat3	G	A	5: 18,220,557 (GRCm39)	M243I		Het
Gramd1a	A	T	7: 30,843,095 (GRCm39)	I71N	possibly damaging	Het
H4c12	C	G	13: 21,934,654 (GRCm39)	G8R	unknown	Het
Htt	A	T	5: 35,033,309 (GRCm39)	D1859V	probably benign	Het
Hyal1	T	C	9: 107,456,468 (GRCm39)	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,954,858 (GRCm39)	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,743,192 (GRCm39)	R64G	probably benign	Het
Itgb1	T	A	8: 129,436,864 (GRCm39)	V95D	probably damaging	Het
Jak1	A	C	4: 101,036,748 (GRCm39)	N297K	probably benign	Het
Kcna4	T	A	2: 107,127,205 (GRCm39)	N646K	possibly damaging	Het
Krt42	A	G	11: 100,153,931 (GRCm39)	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,338,596 (GRCm39)	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,763,469 (GRCm39)	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,451,289 (GRCm39)	T410M	probably damaging	Het
Nav3	T	C	10: 109,552,466 (GRCm39)	E1792G	probably damaging	Het
Neurl4	A	G	11: 69,801,232 (GRCm39)	H1201R	probably benign	Het
Nfasc	T	C	1: 132,510,804 (GRCm39)	Y1073C	unknown	Het
Nrbp2	A	G	15: 75,958,945 (GRCm39)	Y253H	probably benign	Het
Or10c1	T	A	17: 37,521,980 (GRCm39)	I255F	probably benign	Het
Or4g16	T	A	2: 111,137,225 (GRCm39)	V225D	probably damaging	Het
Or4k45	T	C	2: 111,395,556 (GRCm39)	T78A	probably damaging	Het
Pcsk5	A	T	19: 17,416,466 (GRCm39)	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,110,924 (GRCm39)	D147A	probably damaging	Het
Siglec15	T	A	18: 78,100,590 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,454,900 (GRCm39)	T1011S	unknown	Het
Slc9a2	A	G	1: 40,783,001 (GRCm39)	T422A	probably damaging	Het
Tert	C	T	13: 73,776,380 (GRCm39)	T377I	possibly damaging	Het
Tex15	T	A	8: 34,061,129 (GRCm39)	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,396,343 (GRCm39)	D212G	probably benign	Het
Tnc	T	G	4: 63,935,973 (GRCm39)	D321A	probably damaging	Het
Topbp1	G	A	9: 103,187,088 (GRCm39)	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,320,203 (GRCm39)	M1I	probably null	Het
Vipr2	G	A	12: 116,058,418 (GRCm39)	D112N	probably benign	Het
Vps13a	T	C	19: 16,718,265 (GRCm39)	E485G	probably damaging	Het
Vps37a	T	A	8: 40,990,087 (GRCm39)	I198N	possibly damaging	Het
Zbtb9	T	C	17: 27,193,735 (GRCm39)	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,307,802 (GRCm39)	V343L	probably damaging	Het

Other mutations in Ndrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Ndrg1	APN	15	66,814,959 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCATCCAGTACTAACAGCAGAG -3'
(R):5'- ACATCTGCTGTTGCCAGTGC -3'

Sequencing Primer
(F):5'- GTACTAACAGCAGAGTATGTTTCAGG -3'
(R):5'- CCAGTGCAGAGCTCTAGAGAC -3'

Posted On

2019-06-07