Mutagenetix > Incidental Mutation

Incidental Mutation 'R3403:Ndrg3'

259248

Institutional Source

Beutler Lab

Gene Symbol

Ndrg3

Ensembl Gene

ENSMUSG00000027634

Gene Name

N-myc downstream regulated gene 3

Synonyms

4833415O14Rik, Ndr3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156769265-156833976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156790208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 92 (V92M)

Ref Sequence

ENSEMBL: ENSMUSP00000070052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069600] [ENSMUST00000072298] [ENSMUST00000109558]

AlphaFold

Q9QYF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000069600
AA Change: V92M

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

SMART Domains

Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634
AA Change: V92M

Domain	Start	End	E-Value	Type
Pfam:Ndr	32	317	1.1e-129	PFAM
low complexity region	335	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000072298
AA Change: V92M

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

SMART Domains

Protein: ENSMUSP00000072144
Gene: ENSMUSG00000027634
AA Change: V92M

Domain	Start	End	E-Value	Type
Pfam:Ndr	32	317	1.9e-129	PFAM
Pfam:Abhydrolase_6	58	305	1.6e-13	PFAM
low complexity region	322	346	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109558
AA Change: V92M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634
AA Change: V92M

Domain	Start	End	E-Value	Type
Pfam:Ndr	32	252	1.8e-99	PFAM
Pfam:Abhydrolase_6	55	237	6.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156651

Meta Mutation Damage Score

0.6595

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	C	1: 78,673,839 (GRCm39)	V333A	probably damaging	Het
Afdn	C	T	17: 14,104,176 (GRCm39)	R1156C	probably damaging	Het
Asic3	A	G	5: 24,621,985 (GRCm39)	E415G	probably damaging	Het
Cactin	G	A	10: 81,161,709 (GRCm39)	R747H	probably benign	Het
Calcr	T	A	6: 3,687,604 (GRCm39)	I465F	probably benign	Het
Dennd4c	C	T	4: 86,692,780 (GRCm39)	P97S	probably damaging	Het
Dnah3	A	G	7: 119,566,879 (GRCm39)	V2449A	probably benign	Het
Dsg1c	A	G	18: 20,403,407 (GRCm39)	N189D	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Or5ac20	G	C	16: 59,104,475 (GRCm39)	N128K	probably benign	Het
Pacs2	T	C	12: 113,014,570 (GRCm39)	S214P	probably damaging	Het
Rad51	T	A	2: 118,951,025 (GRCm39)		probably benign	Het
Rtn4	T	C	11: 29,657,690 (GRCm39)	S499P	probably benign	Het
Slc6a6	A	G	6: 91,703,110 (GRCm39)	H161R	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tmem74	C	T	15: 43,730,417 (GRCm39)	V209M	probably damaging	Het
Unc80	A	T	1: 66,549,845 (GRCm39)	E701V	probably damaging	Het
Upk3a	T	C	15: 84,902,384 (GRCm39)		probably null	Het
Zhx1	T	C	15: 57,917,745 (GRCm39)	E167G	probably benign	Het

Other mutations in Ndrg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02793:Ndrg3	APN	2	156,791,952 (GRCm39)	critical splice donor site	probably null
R0277:Ndrg3	UTSW	2	156,776,855 (GRCm39)	utr 3 prime	probably benign
R1335:Ndrg3	UTSW	2	156,787,928 (GRCm39)	splice site	probably benign
R1370:Ndrg3	UTSW	2	156,780,570 (GRCm39)	missense	probably damaging	1.00
R3236:Ndrg3	UTSW	2	156,785,957 (GRCm39)	missense	probably damaging	0.97
R3401:Ndrg3	UTSW	2	156,790,208 (GRCm39)	missense	probably damaging	1.00
R3522:Ndrg3	UTSW	2	156,785,947 (GRCm39)	missense	probably damaging	0.99
R4282:Ndrg3	UTSW	2	156,790,214 (GRCm39)	missense	possibly damaging	0.80
R5256:Ndrg3	UTSW	2	156,773,125 (GRCm39)	unclassified	probably benign
R5894:Ndrg3	UTSW	2	156,770,698 (GRCm39)	missense	probably benign	0.13
R6399:Ndrg3	UTSW	2	156,782,294 (GRCm39)	missense	probably damaging	0.99
R7781:Ndrg3	UTSW	2	156,770,733 (GRCm39)	nonsense	probably null
R8079:Ndrg3	UTSW	2	156,779,452 (GRCm39)	nonsense	probably null
R8932:Ndrg3	UTSW	2	156,782,299 (GRCm39)	missense	possibly damaging	0.75
R9436:Ndrg3	UTSW	2	156,782,276 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGCCTACAGCCTCTTATAGC -3'
(R):5'- TGGAGTGGACTGCTGAGGA -3'

Sequencing Primer
(F):5'- ATGCCTGCCTAGAGAACTTG -3'
(R):5'- CTGCTGAGGAGAAGGGACTG -3'

Posted On

2015-01-23