Incidental Mutation 'R0328:Ndrg1'
ID 25900
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
MMRRC Submission 038537-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0328 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 66801167-66841489 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 66815008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005256] [ENSMUST00000163496] [ENSMUST00000164070] [ENSMUST00000164675] [ENSMUST00000166420] [ENSMUST00000171266] [ENSMUST00000168979] [ENSMUST00000168542] [ENSMUST00000172447] [ENSMUST00000170903]
AlphaFold Q62433
Predicted Effect probably benign
Transcript: ENSMUST00000005256
SMART Domains Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125

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: ENSMUST00000164070
SMART Domains Protein: ENSMUSP00000126091
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
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

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: ENSMUST00000171266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171569
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 probably benign
Transcript: ENSMUST00000168542
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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.5%
  • 20x: 90.8%
Validation Efficiency 96% (46/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,574,624 (GRCm39) H618L possibly damaging Het
Aacs T C 5: 125,593,323 (GRCm39) V642A probably benign Het
Alms1 A G 6: 85,587,796 (GRCm39) probably null Het
Arhgap39 A G 15: 76,636,152 (GRCm39) probably benign Het
Bard1 C T 1: 71,085,921 (GRCm39) V595I probably benign Het
Bptf T C 11: 106,937,953 (GRCm39) K2713E probably damaging Het
Calhm1 C T 19: 47,129,742 (GRCm39) G260D possibly damaging Het
Ccdc154 A C 17: 25,390,779 (GRCm39) K643T probably benign Het
Ccl4 T A 11: 83,554,383 (GRCm39) S59T probably damaging Het
Cntd1 T C 11: 101,174,259 (GRCm39) S73P probably benign Het
Colgalt2 A T 1: 152,348,859 (GRCm39) D168V probably damaging Het
Fam117a T C 11: 95,266,452 (GRCm39) probably benign Het
Fat1 A G 8: 45,476,827 (GRCm39) T1935A probably benign Het
Fbxw21 T A 9: 108,975,653 (GRCm39) I248F possibly damaging Het
Fhod3 A T 18: 25,246,657 (GRCm39) M1288L probably benign Het
Gm5114 T G 7: 39,057,885 (GRCm39) K578T probably damaging Het
Gxylt2 A T 6: 100,727,496 (GRCm39) probably benign Het
Helz G T 11: 107,495,174 (GRCm39) A383S probably benign Het
Ift172 C A 5: 31,421,195 (GRCm39) E968* probably null Het
Itpripl1 T C 2: 126,983,924 (GRCm39) N66S possibly damaging Het
Kcnma1 A G 14: 23,423,265 (GRCm39) Y686H probably damaging Het
Ogdh T C 11: 6,297,216 (GRCm39) V545A probably benign Het
Or10al5 A G 17: 38,063,284 (GRCm39) I180V possibly damaging Het
P3h3 G A 6: 124,831,269 (GRCm39) probably benign Het
Ppme1 A T 7: 99,983,182 (GRCm39) probably null Het
Prkag1 T G 15: 98,713,563 (GRCm39) D44A probably damaging Het
Prpf39 T C 12: 65,090,145 (GRCm39) probably benign Het
Rabep1 C A 11: 70,810,033 (GRCm39) R489S probably damaging Het
Scn10a A G 9: 119,523,168 (GRCm39) V75A possibly damaging Het
Sema3d T C 5: 12,498,042 (GRCm39) L16P possibly damaging Het
Skida1 T C 2: 18,051,997 (GRCm39) probably benign Het
Sptbn4 T C 7: 27,063,595 (GRCm39) Y2277C probably damaging Het
Syne1 A G 10: 5,298,945 (GRCm39) I1047T possibly damaging Het
Syt17 A G 7: 117,981,216 (GRCm39) Y369H probably benign Het
Tmem131l C T 3: 83,829,238 (GRCm39) probably benign Het
Traf3ip2 A T 10: 39,510,669 (GRCm39) D314V probably damaging Het
Ttc28 T G 5: 111,431,933 (GRCm39) probably benign Het
Ush1c A C 7: 45,874,872 (GRCm39) probably benign Het
Utp20 A T 10: 88,602,969 (GRCm39) Y1884N possibly damaging Het
Vmn2r112 T A 17: 22,824,251 (GRCm39) I502K probably benign Het
Vmn2r60 T C 7: 41,791,744 (GRCm39) probably benign Het
Vmn2r63 T C 7: 42,552,699 (GRCm39) I852M probably benign Het
Vmn2r9 T A 5: 108,995,405 (GRCm39) E414D probably benign Het
Wnt4 A G 4: 137,022,754 (GRCm39) T106A probably damaging Het
Zbtb26 A T 2: 37,326,807 (GRCm39) N76K possibly damaging Het
Zfhx2 T C 14: 55,309,445 (GRCm39) T885A probably benign 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
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
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'- GGGCGAAACCTCTAAGACCTTTGAG -3'
(R):5'- TGGCTATTGCACACTGGGCATTC -3'

Sequencing Primer
(F):5'- TCTAAGACCTTTGAGAGCAGC -3'
(R):5'- GGGCATTCTTTCTTTTTCTATGGC -3'
Posted On 2013-04-16