Incidental Mutation 'IGL01832:Ndrg4'
ID154824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndrg4
Ensembl Gene ENSMUSG00000036564
Gene NameN-myc downstream regulated gene 4
SynonymsD8Bwg1337e, Ndr1-rs, SMAP-8, Ndr4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01832
Quality Score
Status
Chromosome8
Chromosomal Location95676980-95715119 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95713319 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 349 (E349G)
Ref Sequence ENSEMBL: ENSMUSP00000072883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034096] [ENSMUST00000041318] [ENSMUST00000073139] [ENSMUST00000080666] [ENSMUST00000141900] [ENSMUST00000148727] [ENSMUST00000160964] [ENSMUST00000162578] [ENSMUST00000166358] [ENSMUST00000212160]
Predicted Effect probably benign
Transcript: ENSMUST00000034096
SMART Domains Protein: ENSMUSP00000034096
Gene: ENSMUSG00000031671

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
SET 62 293 1.84e0 SMART
Pfam:Rubis-subs-bind 330 465 1.3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041318
AA Change: E401G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564
AA Change: E401G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ndr 60 342 3.1e-126 PFAM
low complexity region 360 375 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073139
AA Change: E349G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564
AA Change: E349G

DomainStartEndE-ValueType
Pfam:Ndr 8 290 2e-126 PFAM
Pfam:Abhydrolase_6 43 278 1.2e-16 PFAM
low complexity region 308 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080666
AA Change: E336G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564
AA Change: E336G

DomainStartEndE-ValueType
Pfam:Ndr 8 290 9.9e-127 PFAM
Pfam:Abhydrolase_6 43 278 1.1e-16 PFAM
low complexity region 295 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126888
Predicted Effect probably benign
Transcript: ENSMUST00000141900
Predicted Effect probably benign
Transcript: ENSMUST00000148727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159851
Predicted Effect probably benign
Transcript: ENSMUST00000160915
Predicted Effect probably benign
Transcript: ENSMUST00000160964
SMART Domains Protein: ENSMUSP00000125703
Gene: ENSMUSG00000036564

DomainStartEndE-ValueType
Pfam:Ndr 40 225 6.8e-85 PFAM
Pfam:Abhydrolase_6 75 223 5.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161314
Predicted Effect probably damaging
Transcript: ENSMUST00000162578
AA Change: E106G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000166358
SMART Domains Protein: ENSMUSP00000131203
Gene: ENSMUSG00000036564

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212160
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 that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spatial learning deficits and increased susceptibility to ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Ndrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01504:Ndrg4 APN 8 95706266 missense probably damaging 1.00
R0325:Ndrg4 UTSW 8 95710935 missense probably damaging 1.00
R1710:Ndrg4 UTSW 8 95710686 missense probably damaging 1.00
R1716:Ndrg4 UTSW 8 95712328 missense probably benign 0.00
R2393:Ndrg4 UTSW 8 95706211 nonsense probably null
R2897:Ndrg4 UTSW 8 95678386 splice site probably null
R2898:Ndrg4 UTSW 8 95678386 splice site probably null
R5838:Ndrg4 UTSW 8 95706793 missense probably damaging 1.00
R6264:Ndrg4 UTSW 8 95709768 missense probably damaging 0.99
R6893:Ndrg4 UTSW 8 95706601 nonsense probably null
R8070:Ndrg4 UTSW 8 95700128 missense possibly damaging 0.69
Z1177:Ndrg4 UTSW 8 95710961 missense possibly damaging 0.93
Posted On2014-02-04