Incidental Mutation 'IGL02869:Ndrg1'
ID362475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndrg1
Ensembl Gene ENSMUSG00000005125
Gene NameN-myc downstream regulated gene 1
SynonymsTDD5, CMT4D, CAP43, DRG1, Tdd5, Ndr1, PROXY1, Ndrl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02869
Quality Score
Status
Chromosome15
Chromosomal Location66929318-66969640 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66946497 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 87 (Q87H)
Ref Sequence ENSEMBL: ENSMUSP00000130584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005256] [ENSMUST00000163496] [ENSMUST00000164070] [ENSMUST00000164675] [ENSMUST00000166420] [ENSMUST00000168542] [ENSMUST00000168979] [ENSMUST00000170903] [ENSMUST00000171266] [ENSMUST00000172447]
Predicted Effect probably benign
Transcript: ENSMUST00000005256
AA Change: Q87H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125
AA Change: Q87H

DomainStartEndE-ValueType
Pfam:Ndr 34 316 4.4e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163496
AA Change: Q87H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000130584
Gene: ENSMUSG00000005125
AA Change: Q87H

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 unknown
Transcript: ENSMUST00000167817
AA Change: Q52H
SMART Domains Protein: ENSMUSP00000127075
Gene: ENSMUSG00000005125
AA Change: Q52H

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
AA Change: Q87H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126985
Gene: ENSMUSG00000005125
AA Change: Q87H

DomainStartEndE-ValueType
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: Q87H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127302
Gene: ENSMUSG00000005125
AA Change: Q87H

DomainStartEndE-ValueType
Pfam:Ndr 34 157 1.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171569
Predicted Effect probably benign
Transcript: ENSMUST00000172447
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,867,459 S1142T possibly damaging Het
5330417C22Rik A G 3: 108,472,866 I309T probably benign Het
Actr3b T G 5: 25,832,435 V215G probably damaging Het
Adam9 C T 8: 24,970,618 V617M probably damaging Het
Adgrl2 G T 3: 148,890,605 P32T probably damaging Het
Ago3 A T 4: 126,367,787 probably benign Het
Allc A C 12: 28,573,207 I20M probably benign Het
Asic3 G A 5: 24,416,974 W361* probably null Het
Atf7ip A G 6: 136,606,579 K1203E probably damaging Het
Babam2 C A 5: 32,004,772 H272Q possibly damaging Het
Baz2b G A 2: 59,977,528 T129I probably benign Het
C130073F10Rik A T 4: 101,890,393 Y146* probably null Het
C530008M17Rik A G 5: 76,859,043 K1084E unknown Het
Cd247 A G 1: 165,857,417 E74G probably damaging Het
Cdh17 A T 4: 11,814,908 Q778L probably benign Het
Ceacam1 T C 7: 25,476,541 D76G probably benign Het
Cela3a T C 4: 137,403,834 K198E probably benign Het
Ces2a T A 8: 104,739,059 D281E probably damaging Het
Cetn2 A T X: 72,914,921 D116E probably damaging Het
Ctu2 G T 8: 122,478,791 probably null Het
Cybb T C X: 9,442,589 N469D probably benign Het
Cygb C T 11: 116,649,923 R79Q probably damaging Het
Cyp2d10 C T 15: 82,403,868 V186M possibly damaging Het
Defb29 T A 2: 152,539,022 probably null Het
Depdc7 T G 2: 104,730,349 Q100P probably damaging Het
Dhx30 A C 9: 110,097,183 I91R probably damaging Het
Dnm1l T A 16: 16,341,424 K105* probably null Het
Efhc1 T C 1: 20,967,343 I248T probably damaging Het
Entpd2 A G 2: 25,398,108 T115A probably damaging Het
Epb42 G T 2: 121,025,746 A439E probably benign Het
Epp13 T C 7: 6,269,899 probably benign Het
Esm1 T G 13: 113,210,084 L81R probably damaging Het
F8 T C X: 75,287,381 S968G probably benign Het
Fam234b T G 6: 135,225,203 Y308D probably damaging Het
Fbxo46 T G 7: 19,137,214 V586G probably damaging Het
Foxp1 C A 6: 98,930,083 probably benign Het
Gm10754 A T 10: 97,682,274 probably benign Het
Gm12355 T A 11: 98,625,320 R76* probably null Het
Gm12695 A C 4: 96,762,133 probably benign Het
Gm438 T C 4: 144,786,368 I54V probably benign Het
Gm5468 T C 15: 25,414,640 probably benign Het
Grhl1 T C 12: 24,581,491 S66P probably damaging Het
Gstt3 A T 10: 75,776,742 probably null Het
Gtf2i A G 5: 134,279,427 probably benign Het
Gzmk C A 13: 113,172,026 G175C probably damaging Het
Helz2 T C 2: 181,231,146 probably benign Het
Ift20 T C 11: 78,539,954 probably benign Het
Intu A G 3: 40,687,786 D491G probably damaging Het
Itch G T 2: 155,173,933 probably null Het
Itgb5 A G 16: 33,844,992 N26S possibly damaging Het
Lama2 A T 10: 27,015,538 S2526R probably damaging Het
Lat2 A G 5: 134,608,173 I40T probably damaging Het
Lipa T A 19: 34,493,997 M393L probably benign Het
Lipa G T 19: 34,493,971 probably benign Het
Lpcat1 T A 13: 73,484,298 L10H probably damaging Het
Lpcat3 T C 6: 124,703,007 Y348H possibly damaging Het
Lrp1b A T 2: 40,701,830 N50K unknown Het
Lrrk2 T A 15: 91,750,277 Y1415N probably damaging Het
Lsamp A T 16: 42,144,715 T312S probably benign Het
Man2a2 T C 7: 80,363,941 E454G probably benign Het
Mcm3 T C 1: 20,808,839 K570R probably damaging Het
Mctp2 C A 7: 72,228,471 probably null Het
Msantd2 T G 9: 37,523,500 C345W probably damaging Het
Musk T C 4: 58,354,078 I362T probably benign Het
Myh15 A T 16: 49,145,404 N1224I probably benign Het
Myo18a A G 11: 77,864,786 Y1983C probably damaging Het
Myo18a C T 11: 77,829,873 probably benign Het
Myrfl G T 10: 116,829,004 Q374K probably damaging Het
Nol9 G A 4: 152,046,573 C351Y probably damaging Het
Nr5a1 A G 2: 38,708,129 S219P probably benign Het
Olfr902 T C 9: 38,449,193 F107S possibly damaging Het
Olfr945 A T 9: 39,258,224 Y149* probably null Het
Pcdhb19 A G 18: 37,498,637 D495G probably damaging Het
Pfkm A G 15: 98,128,242 M573V probably damaging Het
Plec A T 15: 76,181,316 L1586Q probably damaging Het
Prelp C A 1: 133,915,267 E47* probably null Het
Rbm33 T A 5: 28,410,755 I32N probably damaging Het
Rgs12 A T 5: 35,025,883 D310V probably damaging Het
Ripor2 A C 13: 24,696,529 H404P possibly damaging Het
Sh3d21 T C 4: 126,162,241 E124G probably benign Het
Shroom2 C T X: 152,659,553 S872N probably benign Het
Slc44a5 A G 3: 154,251,014 Y301C probably damaging Het
Smap1 A T 1: 23,891,914 H66Q possibly damaging Het
Smyd1 G T 6: 71,221,023 probably benign Het
Spata5 G T 3: 37,464,545 G743W probably damaging Het
Sptbn4 T A 7: 27,394,148 probably benign Het
Stag3 A G 5: 138,282,693 K49R probably damaging Het
Stim1 C A 7: 102,268,551 A46E unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tbc1d19 A G 5: 53,835,217 T114A probably benign Het
Tln2 G A 9: 67,221,525 probably benign Het
Tmem2 T A 19: 21,811,877 D558E probably damaging Het
Trmt10a T A 3: 138,152,184 probably null Het
Vwde G A 6: 13,187,137 H784Y probably damaging Het
Zfp773 T C 7: 7,134,233 T121A probably benign Het
Other mutations in Ndrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Ndrg1 APN 15 66943110 missense probably damaging 1.00
IGL01419:Ndrg1 APN 15 66931051 missense probably benign 0.01
IGL02618:Ndrg1 APN 15 66940237 missense probably benign 0.03
IGL03206:Ndrg1 APN 15 66943087 nonsense probably null
PIT4377001:Ndrg1 UTSW 15 66948439 missense probably benign
R0328:Ndrg1 UTSW 15 66943159 splice site probably benign
R1102:Ndrg1 UTSW 15 66944836 missense probably damaging 1.00
R1105:Ndrg1 UTSW 15 66940231 missense probably damaging 0.99
R1748:Ndrg1 UTSW 15 66931081 missense possibly damaging 0.55
R1875:Ndrg1 UTSW 15 66931091 missense possibly damaging 0.91
R5214:Ndrg1 UTSW 15 66959390 missense probably damaging 0.99
R5809:Ndrg1 UTSW 15 66930850 unclassified probably benign
R6433:Ndrg1 UTSW 15 66933872 missense probably damaging 1.00
R7104:Ndrg1 UTSW 15 66946528 missense probably damaging 1.00
R7412:Ndrg1 UTSW 15 66960533 start codon destroyed probably null 1.00
R7667:Ndrg1 UTSW 15 66948394 missense probably damaging 1.00
Posted On2015-12-18