Incidental Mutation 'R2393:Ndrg4'
ID 247871
Institutional Source Beutler Lab
Gene Symbol Ndrg4
Ensembl Gene ENSMUSG00000036564
Gene Name N-myc downstream regulated gene 4
Synonyms Ndr4, D8Bwg1337e, Ndr1-rs, SMAP-8
MMRRC Submission 040361-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2393 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96403602-96441584 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 96432839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 15 (Y15*)
Ref Sequence ENSEMBL: ENSMUSP00000148779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041318] [ENSMUST00000073139] [ENSMUST00000080666] [ENSMUST00000166358] [ENSMUST00000160964] [ENSMUST00000212160] [ENSMUST00000162578]
AlphaFold Q8BTG7
Predicted Effect probably null
Transcript: ENSMUST00000041318
AA Change: Y67*
SMART Domains Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564
AA Change: Y67*

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 null
Transcript: ENSMUST00000073139
AA Change: Y15*
SMART Domains Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564
AA Change: Y15*

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 null
Transcript: ENSMUST00000080666
AA Change: Y15*
SMART Domains Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564
AA Change: Y15*

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 unknown
Transcript: ENSMUST00000166358
AA Change: M76K
SMART Domains Protein: ENSMUSP00000131203
Gene: ENSMUSG00000036564
AA Change: M76K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000160964
AA Change: Y47*
SMART Domains Protein: ENSMUSP00000125703
Gene: ENSMUSG00000036564
AA Change: Y47*

DomainStartEndE-ValueType
Pfam:Ndr 40 225 6.8e-85 PFAM
Pfam:Abhydrolase_6 75 223 5.3e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000212160
AA Change: Y15*
Predicted Effect probably benign
Transcript: ENSMUST00000162578
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,225,057 (GRCm39) L512* probably null Het
Adam4 A T 12: 81,467,485 (GRCm39) F379I probably benign Het
Ano6 C G 15: 95,863,906 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arfgef3 A G 10: 18,473,535 (GRCm39) V1588A possibly damaging Het
Arl8a T A 1: 135,080,604 (GRCm39) V93E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cd200r2 T A 16: 44,729,630 (GRCm39) I95N probably damaging Het
Cd209d A G 8: 3,928,436 (GRCm39) probably null Het
Cep290 A G 10: 100,397,100 (GRCm39) probably null Het
Chd2 G T 7: 73,157,631 (GRCm39) D171E possibly damaging Het
Chrna7 G A 7: 62,748,994 (GRCm39) A496V probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Colgalt1 C G 8: 72,076,385 (GRCm39) T612S probably benign Het
Copg2 T C 6: 30,787,893 (GRCm39) K602E probably benign Het
Crtc1 T A 8: 70,840,808 (GRCm39) T473S probably benign Het
Ctbp2 A T 7: 132,625,290 (GRCm39) probably null Het
Edem1 T G 6: 108,829,504 (GRCm39) M541R probably damaging Het
Ehmt1 A C 2: 24,696,229 (GRCm39) V953G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T C 7: 129,828,968 (GRCm39) probably null Het
Focad A G 4: 88,039,567 (GRCm39) D10G probably damaging Het
Gfus G T 15: 75,798,200 (GRCm39) L191I probably damaging Het
Gm5901 G T 7: 105,026,996 (GRCm39) V255F possibly damaging Het
Hsp90aa1 T C 12: 110,659,840 (GRCm39) N416S probably damaging Het
Hspb1 T C 5: 135,917,950 (GRCm39) F142L probably benign Het
Il17re C T 6: 113,439,314 (GRCm39) H75Y possibly damaging Het
Kctd3 A G 1: 188,713,568 (GRCm39) I389T probably damaging Het
Lhx6 T C 2: 35,981,402 (GRCm39) D63G probably benign Het
Mepe A G 5: 104,485,327 (GRCm39) T156A possibly damaging Het
Met A G 6: 17,534,197 (GRCm39) Y680C probably damaging Het
Mrgpra3 T C 7: 47,239,365 (GRCm39) Y187C possibly damaging Het
Mst1 T G 9: 107,960,151 (GRCm39) probably null Het
Myh13 T A 11: 67,231,184 (GRCm39) S394T possibly damaging Het
Nbeal1 T A 1: 60,290,529 (GRCm39) V1042E probably damaging Het
Neurl4 G A 11: 69,797,900 (GRCm39) R720H probably damaging Het
Nfkbia A G 12: 55,537,455 (GRCm39) probably benign Het
Nwd1 T A 8: 73,389,055 (GRCm39) M202K probably benign Het
Or10d4 G T 9: 39,580,569 (GRCm39) C72F possibly damaging Het
Or2av9 T A 11: 58,381,546 (GRCm39) I12F probably benign Het
Pate2 T C 9: 35,581,036 (GRCm39) probably benign Het
Pibf1 A G 14: 99,480,368 (GRCm39) T715A probably benign Het
Pitpnm1 T C 19: 4,160,935 (GRCm39) L858P probably benign Het
Pla2g3 A C 11: 3,443,115 (GRCm39) S483R probably benign Het
Rad51ap2 T A 12: 11,507,798 (GRCm39) D573E probably damaging Het
Rho T C 6: 115,912,352 (GRCm39) probably benign Het
Rpl39l A T 16: 9,992,328 (GRCm39) *52L probably null Het
Slco1a5 T A 6: 142,194,501 (GRCm39) R381W possibly damaging Het
Spns3 T A 11: 72,441,059 (GRCm39) probably benign Het
Srgap2 A G 1: 131,259,872 (GRCm39) S493P probably benign Het
Tecpr2 T C 12: 110,892,836 (GRCm39) S293P probably damaging Het
Ttn C T 2: 76,583,211 (GRCm39) V20815M probably benign Het
Ushbp1 T C 8: 71,847,132 (GRCm39) I167V probably benign Het
Wdr81 C T 11: 75,340,231 (GRCm39) A1296T probably damaging Het
Zmym2 A G 14: 57,158,180 (GRCm39) Y573C probably benign Het
Other mutations in Ndrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01504:Ndrg4 APN 8 96,432,894 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTAAACTGGCCTCCTGAGACC -3'
(R):5'- AGATTTCAGGACCACGCACG -3'

Sequencing Primer
(F):5'- GTAGAGAGAGTCAGGACTTTGTC -3'
(R):5'- CCACGCACGGAGGGGAG -3'
Posted On 2014-11-11