Incidental Mutation 'R5838:Ndrg4'
ID 449728
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 044058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5838 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96403602-96441584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96433421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 134 (H134L)
Ref Sequence ENSEMBL: ENSMUSP00000125703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041318] [ENSMUST00000073139] [ENSMUST00000080666] [ENSMUST00000160964] [ENSMUST00000212160] [ENSMUST00000162578] [ENSMUST00000166358]
AlphaFold Q8BTG7
Predicted Effect probably damaging
Transcript: ENSMUST00000041318
AA Change: H154L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564
AA Change: H154L

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: H102L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564
AA Change: H102L

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: H102L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564
AA Change: H102L

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 unknown
Transcript: ENSMUST00000160915
AA Change: T45S
Predicted Effect probably damaging
Transcript: ENSMUST00000160964
AA Change: H134L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125703
Gene: ENSMUSG00000036564
AA Change: H134L

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: H102L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,863,706 (GRCm39) V385I probably benign Het
Apmap T C 2: 150,427,777 (GRCm39) Y315C probably damaging Het
Arhgef12 G A 9: 42,916,904 (GRCm39) T414I probably damaging Het
Cd200r1 C A 16: 44,586,397 (GRCm39) A9D possibly damaging Het
Cdkal1 T C 13: 29,875,669 (GRCm39) D183G probably benign Het
Clk1 C A 1: 58,451,819 (GRCm39) C432F probably damaging Het
Col27a1 G T 4: 63,143,765 (GRCm39) L484F probably damaging Het
Col7a1 A G 9: 108,807,211 (GRCm39) E2480G unknown Het
Dnah5 A G 15: 28,290,341 (GRCm39) I1244V probably benign Het
Dock3 G T 9: 106,772,687 (GRCm39) P522Q possibly damaging Het
Drc1 T A 5: 30,523,857 (GRCm39) probably null Het
Epas1 C T 17: 87,131,114 (GRCm39) T298I possibly damaging Het
Epha1 A T 6: 42,338,580 (GRCm39) I699N probably damaging Het
Ephb3 T C 16: 21,040,437 (GRCm39) S558P probably damaging Het
Epn1 T A 7: 5,100,165 (GRCm39) L426* probably null Het
Fam234b T C 6: 135,202,265 (GRCm39) V329A probably benign Het
Fasn G T 11: 120,706,950 (GRCm39) R901S probably damaging Het
Fbln2 T C 6: 91,248,830 (GRCm39) M1165T possibly damaging Het
Fer1l4 T C 2: 155,893,913 (GRCm39) R103G probably benign Het
G6pd2 T A 5: 61,966,568 (GRCm39) D114E probably benign Het
Galnt10 A G 11: 57,671,882 (GRCm39) K391E probably damaging Het
Gpr150 C A 13: 76,204,045 (GRCm39) C300F probably benign Het
Hhipl2 A G 1: 183,204,479 (GRCm39) T151A probably damaging Het
Hmcn2 C A 2: 31,347,819 (GRCm39) L4822M probably damaging Het
Ifi207 T A 1: 173,559,953 (GRCm39) Q173L unknown Het
Inca1 T C 11: 70,580,707 (GRCm39) E86G probably damaging Het
Iqca1 A G 1: 90,072,667 (GRCm39) L71P probably benign Het
Kank2 G T 9: 21,706,689 (GRCm39) Q110K probably damaging Het
Katnip A T 7: 125,466,827 (GRCm39) M1361L possibly damaging Het
Kif13b A T 14: 64,975,004 (GRCm39) M407L probably damaging Het
Kif5a A C 10: 127,081,310 (GRCm39) I208S probably damaging Het
Kmt2c T C 5: 25,489,469 (GRCm39) K4490R probably damaging Het
Ltbp2 C T 12: 84,835,875 (GRCm39) R1352H probably benign Het
Macf1 T C 4: 123,345,947 (GRCm39) Q2061R possibly damaging Het
Marcks A G 10: 37,012,163 (GRCm39) S291P probably benign Het
Mccc1 A G 3: 36,039,231 (GRCm39) V254A possibly damaging Het
Mdn1 C T 4: 32,754,547 (GRCm39) R4683W probably damaging Het
Mon2 A G 10: 122,846,397 (GRCm39) probably null Het
Nek7 C A 1: 138,462,101 (GRCm39) probably null Het
Nlrc3 C T 16: 3,771,859 (GRCm39) S151N probably damaging Het
Nsl1 C A 1: 190,802,310 (GRCm39) A146E probably benign Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or2y1e A C 11: 49,218,760 (GRCm39) N174T probably damaging Het
Or52ac1 A G 7: 104,246,104 (GRCm39) Y95H probably benign Het
Or5b120 T A 19: 13,479,922 (GRCm39) Y72N probably damaging Het
Or6c210 A T 10: 129,495,907 (GRCm39) R77S probably benign Het
Pde4d A C 13: 109,876,976 (GRCm39) S41R probably damaging Het
Phlpp1 T A 1: 106,274,862 (GRCm39) L875* probably null Het
Pkd1 T A 17: 24,799,186 (GRCm39) S2802T possibly damaging Het
Polr3b A G 10: 84,510,454 (GRCm39) T500A probably benign Het
Ppp2r2c T C 5: 37,097,531 (GRCm39) V239A probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Reln T A 5: 22,104,111 (GRCm39) I3287F probably damaging Het
Scube2 T C 7: 109,407,651 (GRCm39) D763G probably damaging Het
Setd5 T C 6: 113,096,396 (GRCm39) V534A probably benign Het
Slc10a4 T A 5: 73,169,373 (GRCm39) C333S probably benign Het
Slc15a1 G A 14: 121,722,283 (GRCm39) A206V probably damaging Het
Snx14 A G 9: 88,273,829 (GRCm39) L654P probably damaging Het
Sowahc G A 10: 59,059,012 (GRCm39) A383T possibly damaging Het
Taf1b A G 12: 24,550,448 (GRCm39) D11G possibly damaging Het
Tap1 C T 17: 34,412,279 (GRCm39) Q164* probably null Het
Tbcel T A 9: 42,327,168 (GRCm39) R430W probably damaging Het
Trappc11 A T 8: 47,965,594 (GRCm39) probably null Het
Trim15 T C 17: 37,173,732 (GRCm39) I259V probably damaging Het
Trpt1 T C 19: 6,975,668 (GRCm39) S141P probably damaging Het
Tsc2 T A 17: 24,832,190 (GRCm39) Q732L probably benign Het
Tstd3 C A 4: 21,759,622 (GRCm39) probably null Het
Unc13d T C 11: 115,955,451 (GRCm39) K914R possibly damaging Het
Unk A G 11: 115,940,157 (GRCm39) E170G probably damaging Het
Uqcc2 T A 17: 27,344,860 (GRCm39) K62* probably null Het
Vim A G 2: 13,585,001 (GRCm39) D394G probably damaging Het
Wdr47 G A 3: 108,532,052 (GRCm39) probably null 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
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'- AGATCACCAAACACTTTGTGGTG -3'
(R):5'- AAACTTGGCCAGCACGTAGG -3'

Sequencing Primer
(F):5'- GTGTGCCACGTGGATGC -3'
(R):5'- CCAGCACGTAGGCTCCG -3'
Posted On 2016-12-20