Incidental Mutation 'IGL01504:Ndrg4'
ID 88984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndrg4
Ensembl Gene ENSMUSG00000036564
Gene Name N-myc downstream regulated gene 4
Synonyms Ndr4, D8Bwg1337e, Ndr1-rs, SMAP-8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01504
Quality Score
Status
Chromosome 8
Chromosomal Location 96403602-96441584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96432894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 34 (L34I)
Ref Sequence ENSEMBL: ENSMUSP00000148779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041318] [ENSMUST00000073139] [ENSMUST00000080666] [ENSMUST00000160964] [ENSMUST00000212160] [ENSMUST00000162578] [ENSMUST00000166358]
AlphaFold Q8BTG7
Predicted Effect probably benign
Transcript: ENSMUST00000041318
AA Change: L86I

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564
AA Change: L86I

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 benign
Transcript: ENSMUST00000073139
AA Change: L34I

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564
AA Change: L34I

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: L34I

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564
AA Change: L34I

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: ENSMUST00000159632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159851
Predicted Effect probably benign
Transcript: ENSMUST00000160915
Predicted Effect probably damaging
Transcript: ENSMUST00000160964
AA Change: L66I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125703
Gene: ENSMUSG00000036564
AA Change: L66I

DomainStartEndE-ValueType
Pfam:Ndr 40 225 6.8e-85 PFAM
Pfam:Abhydrolase_6 75 223 5.3e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212160
AA Change: L34I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000162578
Predicted Effect probably benign
Transcript: ENSMUST00000166358
SMART Domains Protein: ENSMUSP00000131203
Gene: ENSMUSG00000036564

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,284,231 (GRCm39) I326N probably damaging Het
Acot6 G A 12: 84,156,176 (GRCm39) V375M probably benign Het
Als2cl G A 9: 110,718,351 (GRCm39) R364Q probably benign Het
Cpa1 A T 6: 30,640,720 (GRCm39) T121S probably benign Het
Ctnnbl1 A G 2: 157,660,036 (GRCm39) probably benign Het
Frrs1 C A 3: 116,694,307 (GRCm39) Q76K probably damaging Het
Gja10 T A 4: 32,602,375 (GRCm39) D3V probably damaging Het
Insyn2a T A 7: 134,519,669 (GRCm39) Q287L probably benign Het
Krt76 T C 15: 101,796,608 (GRCm39) E400G probably damaging Het
Mdm1 A G 10: 117,982,505 (GRCm39) T47A probably damaging Het
Ncf2 A G 1: 152,709,080 (GRCm39) K336R probably benign Het
Phf20l1 T A 15: 66,469,540 (GRCm39) H148Q possibly damaging Het
Rhobtb1 A G 10: 69,085,528 (GRCm39) H89R probably damaging Het
Sult1e1 T C 5: 87,724,160 (GRCm39) N266D probably damaging Het
Sult2a2 T C 7: 13,472,189 (GRCm39) S129P probably damaging Het
Trank1 A G 9: 111,202,612 (GRCm39) E1659G probably damaging Het
Trpa1 T G 1: 14,952,443 (GRCm39) I863L possibly damaging Het
Vmn1r177 C T 7: 23,565,835 (GRCm39) V14M probably damaging Het
Vmn2r14 A T 5: 109,369,285 (GRCm39) M96K probably benign Het
Zp1 C T 19: 10,896,375 (GRCm39) V117M probably damaging Het
Other mutations in Ndrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Ndrg4 APN 8 96,439,947 (GRCm39) missense probably damaging 1.00
R0325:Ndrg4 UTSW 8 96,437,563 (GRCm39) missense probably damaging 1.00
R1710:Ndrg4 UTSW 8 96,437,314 (GRCm39) missense probably damaging 1.00
R1716:Ndrg4 UTSW 8 96,438,956 (GRCm39) missense probably benign 0.00
R2393:Ndrg4 UTSW 8 96,432,839 (GRCm39) nonsense probably null
R2897:Ndrg4 UTSW 8 96,405,014 (GRCm39) splice site probably null
R2898:Ndrg4 UTSW 8 96,405,014 (GRCm39) splice site probably null
R5838:Ndrg4 UTSW 8 96,433,421 (GRCm39) missense probably damaging 1.00
R6264:Ndrg4 UTSW 8 96,436,396 (GRCm39) missense probably damaging 0.99
R6893:Ndrg4 UTSW 8 96,433,229 (GRCm39) nonsense probably null
R8070:Ndrg4 UTSW 8 96,426,756 (GRCm39) missense possibly damaging 0.69
R8507:Ndrg4 UTSW 8 96,404,975 (GRCm39) start codon destroyed probably null 0.01
R9262:Ndrg4 UTSW 8 96,435,812 (GRCm39) splice site probably benign
Z1177:Ndrg4 UTSW 8 96,437,589 (GRCm39) missense possibly damaging 0.93
Posted On 2013-12-03