Incidental Mutation 'IGL02618:Ndrg1'
ID 300732
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 # IGL02618
Quality Score
Status
Chromosome 15
Chromosomal Location 66801167-66841489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66812086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 202 (H202Y)
Ref Sequence ENSEMBL: ENSMUSP00000005256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005256] [ENSMUST00000163496] [ENSMUST00000164675] [ENSMUST00000166420] [ENSMUST00000168542] [ENSMUST00000168979] [ENSMUST00000172447] [ENSMUST00000170903] [ENSMUST00000171266]
AlphaFold Q62433
Predicted Effect probably benign
Transcript: ENSMUST00000005256
AA Change: H202Y

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125
AA Change: H202Y

DomainStartEndE-ValueType
Pfam:Ndr 34 316 4.4e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163496
SMART Domains Protein: ENSMUSP00000130584
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
Pfam:Ndr 34 155 1.2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164675
Predicted Effect probably benign
Transcript: ENSMUST00000166420
SMART Domains Protein: ENSMUSP00000127099
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
Pfam:Ndr 17 132 1.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167817
SMART Domains Protein: ENSMUSP00000127075
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000126985
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
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: ENSMUST00000172447
Predicted Effect probably benign
Transcript: ENSMUST00000170903
SMART Domains Protein: ENSMUSP00000127302
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
Pfam:Ndr 34 157 1.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171266
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,104,086 (GRCm39) Q178* probably null Het
Adgre1 T A 17: 57,751,021 (GRCm39) V565E possibly damaging Het
Arfgef2 C A 2: 166,695,233 (GRCm39) N535K probably damaging Het
Bbx A G 16: 50,068,161 (GRCm39) L161S probably damaging Het
Bclaf1 T C 10: 20,199,274 (GRCm39) S224P probably damaging Het
Car2 A G 3: 14,963,032 (GRCm39) D189G probably benign Het
Catsperb A T 12: 101,446,983 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,879,812 (GRCm39) V1770I probably benign Het
Cebpe T C 14: 54,948,234 (GRCm39) D203G probably damaging Het
Chn2 A G 6: 54,197,422 (GRCm39) N104S probably damaging Het
Clec2i G A 6: 128,873,464 (GRCm39) C231Y probably damaging Het
Col4a5 C T X: 140,466,678 (GRCm39) P1557S probably damaging Het
Creb3l1 T C 2: 91,813,543 (GRCm39) N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 (GRCm39) D587E probably benign Het
Dnmt3l T C 10: 77,889,856 (GRCm39) probably benign Het
Dock7 A G 4: 98,971,265 (GRCm39) V100A probably benign Het
Frk C T 10: 34,459,960 (GRCm39) T185I possibly damaging Het
Frmd4b G A 6: 97,285,066 (GRCm39) Q340* probably null Het
Lima1 C A 15: 99,700,097 (GRCm39) probably benign Het
Mtcl2 A G 2: 156,882,486 (GRCm39) L522P probably damaging Het
Nxpe2 T G 9: 48,237,634 (GRCm39) N207T probably damaging Het
Or5ac19 A T 16: 59,089,290 (GRCm39) S247T probably damaging Het
Pdzph1 T C 17: 59,186,068 (GRCm39) probably benign Het
Pinx1 A G 14: 64,105,969 (GRCm39) D75G probably damaging Het
Plxdc1 A T 11: 97,823,130 (GRCm39) D370E probably benign Het
Polb A T 8: 23,127,109 (GRCm39) L228Q probably damaging Het
Rab3gap2 T A 1: 184,983,938 (GRCm39) I521N possibly damaging Het
Rapgef1 A G 2: 29,627,955 (GRCm39) D1045G probably damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Src A T 2: 157,306,698 (GRCm39) K234* probably null Het
Stk36 C A 1: 74,670,834 (GRCm39) probably benign Het
Ttll6 G T 11: 96,038,388 (GRCm39) C412F probably benign Het
Zfp58 A G 13: 67,639,475 (GRCm39) F339L possibly damaging Het
Other mutations in Ndrg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16