Incidental Mutation 'IGL03236:Ndnf'
ID414057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndnf
Ensembl Gene ENSMUSG00000049001
Gene Nameneuron-derived neurotrophic factor
SynonymsA930038C07Rik, epidermacan
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL03236
Quality Score
Status
Chromosome6
Chromosomal Location65671590-65712326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 65696172 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 45 (V45M)
Ref Sequence ENSEMBL: ENSMUSP00000051297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054351]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054351
AA Change: V45M

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000051297
Gene: ENSMUSG00000049001
AA Change: V45M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:FN3 71 161 2e-33 BLAST
FN3 174 324 5.75e-2 SMART
FN3 445 554 1.62e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,519,916 T11A probably benign Het
Abca17 A G 17: 24,326,476 probably benign Het
Aox2 G T 1: 58,309,997 E641* probably null Het
Arhgef10l G T 4: 140,611,360 D30E probably damaging Het
Arhgef37 A T 18: 61,523,826 I56N probably damaging Het
Cwf19l1 T C 19: 44,127,448 I181V probably benign Het
Dnaic2 A G 11: 114,757,249 probably benign Het
Elp2 A G 18: 24,622,243 probably benign Het
Epb41l4a G A 18: 33,810,219 S541L probably damaging Het
Ibsp A C 5: 104,306,005 N70H probably benign Het
Ikzf1 A G 11: 11,707,848 E35G probably damaging Het
Kdm5a T C 6: 120,438,988 V1623A probably damaging Het
Kpna7 A T 5: 144,985,694 V499E unknown Het
Krtap4-16 C A 11: 99,851,136 R146L unknown Het
Map2k5 T A 9: 63,286,392 probably benign Het
Mfn2 A G 4: 147,882,105 F543S probably damaging Het
Mical3 A G 6: 120,969,384 L1052P probably benign Het
Mycbp2 T C 14: 103,298,698 N272S probably damaging Het
Ndel1 A G 11: 68,842,150 Y87H probably benign Het
Nr3c1 A G 18: 39,486,391 I281T probably benign Het
Ntm A G 9: 29,109,506 V139A probably benign Het
Olfr205 A C 16: 59,328,837 V224G probably damaging Het
Pkhd1l1 T G 15: 44,581,826 V3698G probably damaging Het
Plcb1 A G 2: 135,346,306 Y773C probably damaging Het
Prkaca T A 8: 83,990,445 F138Y probably damaging Het
Qser1 T C 2: 104,786,532 T1312A probably benign Het
Slc47a2 T C 11: 61,313,679 E282G probably damaging Het
Smchd1 G A 17: 71,391,430 T1117I possibly damaging Het
Utp6 A G 11: 79,960,741 probably benign Het
Vmn1r66 T A 7: 10,275,063 K14N probably damaging Het
Vmn1r71 A T 7: 10,748,284 V93E probably benign Het
Zfp768 G A 7: 127,343,970 L329F possibly damaging Het
Other mutations in Ndnf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Ndnf APN 6 65703258 missense probably damaging 1.00
IGL01737:Ndnf APN 6 65703555 missense probably benign 0.15
IGL03000:Ndnf APN 6 65703315 missense possibly damaging 0.95
IGL03373:Ndnf APN 6 65704288 missense possibly damaging 0.47
K3955:Ndnf UTSW 6 65701429 splice site probably benign
R1457:Ndnf UTSW 6 65704014 missense possibly damaging 0.82
R1670:Ndnf UTSW 6 65703070 missense probably benign 0.00
R1687:Ndnf UTSW 6 65703423 missense probably benign 0.00
R1909:Ndnf UTSW 6 65703313 missense possibly damaging 0.94
R3951:Ndnf UTSW 6 65703141 missense possibly damaging 0.79
R4043:Ndnf UTSW 6 65703936 missense possibly damaging 0.89
R4465:Ndnf UTSW 6 65704196 missense probably benign
R4983:Ndnf UTSW 6 65703571 missense possibly damaging 0.89
R5271:Ndnf UTSW 6 65703666 missense possibly damaging 0.52
R6785:Ndnf UTSW 6 65703063 missense probably benign 0.01
R7874:Ndnf UTSW 6 65703429 missense probably benign
R8049:Ndnf UTSW 6 65703430 missense probably benign 0.04
R8398:Ndnf UTSW 6 65704378 missense probably damaging 0.99
R8729:Ndnf UTSW 6 65703774 nonsense probably null
R8853:Ndnf UTSW 6 65703177 missense probably benign 0.06
RF017:Ndnf UTSW 6 65704329 missense probably damaging 0.97
X0066:Ndnf UTSW 6 65701517 nonsense probably null
Posted On2016-08-02