Incidental Mutation 'R6893:Ndrg4'
ID 538159
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 044987-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6893 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 96403602-96441584 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 96433229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 66 (C66*)
Ref Sequence ENSEMBL: ENSMUSP00000148779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041318] [ENSMUST00000073139] [ENSMUST00000080666] [ENSMUST00000160964] [ENSMUST00000162578] [ENSMUST00000166358] [ENSMUST00000212160]
AlphaFold Q8BTG7
Predicted Effect probably null
Transcript: ENSMUST00000041318
AA Change: C118*
SMART Domains Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564
AA Change: C118*

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: C66*
SMART Domains Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564
AA Change: C66*

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: C66*
SMART Domains Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564
AA Change: C66*

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
Predicted Effect probably null
Transcript: ENSMUST00000160964
AA Change: C98*
SMART Domains Protein: ENSMUSP00000125703
Gene: ENSMUSG00000036564
AA Change: C98*

DomainStartEndE-ValueType
Pfam:Ndr 40 225 6.8e-85 PFAM
Pfam:Abhydrolase_6 75 223 5.3e-12 PFAM
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
Predicted Effect probably null
Transcript: ENSMUST00000212160
AA Change: C66*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.7%
  • 20x: 95.2%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T A 8: 25,368,770 (GRCm39) D538V probably damaging Het
Akap9 T C 5: 4,011,709 (GRCm39) I804T probably benign Het
Amy1 T C 3: 113,357,281 (GRCm39) E186G probably benign Het
Best1 A G 19: 9,974,446 (GRCm39) Y33H probably damaging Het
Cacna1s C A 1: 136,005,431 (GRCm39) N405K probably benign Het
Casp7 T C 19: 56,421,741 (GRCm39) Y60H probably damaging Het
Ccdc61 T C 7: 18,626,488 (GRCm39) N367S possibly damaging Het
Cnksr3 A T 10: 7,085,129 (GRCm39) probably null Het
Col14a1 A C 15: 55,308,044 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,323,784 (GRCm39) K424* probably null Het
Dnai3 T C 3: 145,786,184 (GRCm39) E366G probably damaging Het
Dpep3 T C 8: 106,700,474 (GRCm39) K411E probably benign Het
Ebf2 T A 14: 67,475,008 (GRCm39) V81E probably benign Het
Ehbp1 G T 11: 21,964,945 (GRCm39) T1084K probably damaging Het
Fastkd2 C T 1: 63,770,953 (GRCm39) A103V possibly damaging Het
Gtf3c2 T C 5: 31,323,722 (GRCm39) K525E probably benign Het
Hdac2 A G 10: 36,873,003 (GRCm39) E287G probably damaging Het
Ifi207 T A 1: 173,555,208 (GRCm39) T832S possibly damaging Het
Igf1 G C 10: 87,700,722 (GRCm39) V49L probably damaging Het
Lef1 A G 3: 130,909,149 (GRCm39) D55G possibly damaging Het
Lipo2 G T 19: 33,698,407 (GRCm39) Y323* probably null Het
Mettl24 C T 10: 40,613,794 (GRCm39) R178C probably damaging Het
Naa80 A G 9: 107,460,225 (GRCm39) E40G probably damaging Het
Nemf A G 12: 69,399,110 (GRCm39) V140A probably benign Het
Nid2 T A 14: 19,839,855 (GRCm39) F815I probably benign Het
Or4c108 A G 2: 88,804,143 (GRCm39) F31L probably benign Het
Or5b106 A C 19: 13,123,106 (GRCm39) S306A probably benign Het
Or8b12c A C 9: 37,716,141 (GRCm39) *311C probably null Het
Or8b3b A T 9: 38,584,355 (GRCm39) N141K possibly damaging Het
Or8k30 A G 2: 86,339,136 (GRCm39) E111G probably damaging Het
Pcdhga3 T C 18: 37,809,598 (GRCm39) S684P probably benign Het
Plch1 A T 3: 63,660,562 (GRCm39) C352* probably null Het
Plscr2 G A 9: 92,172,757 (GRCm39) V139I probably benign Het
Ppa1 T A 10: 61,508,182 (GRCm39) C270S probably benign Het
Ryr2 T A 13: 11,844,540 (GRCm39) M399L possibly damaging Het
Scn3a A G 2: 65,356,098 (GRCm39) V212A possibly damaging Het
Serpina3b A G 12: 104,099,285 (GRCm39) K267E probably benign Het
Shroom3 A G 5: 93,090,063 (GRCm39) T938A probably damaging Het
Specc1 A C 11: 62,023,279 (GRCm39) S115R probably benign Het
Stim2 C T 5: 54,210,787 (GRCm39) T74I probably benign Het
Sult6b2 T A 6: 142,750,025 (GRCm39) D31V possibly damaging Het
Tbc1d24 A T 17: 24,401,492 (GRCm39) W406R probably damaging Het
Tmprss11b A G 5: 86,811,245 (GRCm39) probably null Het
Trappc9 A G 15: 72,797,499 (GRCm39) Y575H possibly damaging Het
Trim63 C T 4: 134,050,412 (GRCm39) T232M probably damaging Het
Ttn A T 2: 76,598,180 (GRCm39) S19578T probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Xpo4 T A 14: 57,819,767 (GRCm39) E1139D 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
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
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'- TGGTCCTGAAATCTCAGTTCCC -3'
(R):5'- AAGTGCTGTACCACACTCGG -3'

Sequencing Primer
(F):5'- TGGCCTGAGATTCCCCACTG -3'
(R):5'- TGTACCACACTCGGGAGCATG -3'
Posted On 2018-11-06