Incidental Mutation 'R1670:Ndnf'
ID 187544
Institutional Source Beutler Lab
Gene Symbol Ndnf
Ensembl Gene ENSMUSG00000049001
Gene Name neuron-derived neurotrophic factor
Synonyms epidermacan, A930038C07Rik
MMRRC Submission 039706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R1670 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 65648595-65689307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65680054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 111 (D111G)
Ref Sequence ENSEMBL: ENSMUSP00000051297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054351]
AlphaFold Q8C119
Predicted Effect probably benign
Transcript: ENSMUST00000054351
AA Change: D111G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051297
Gene: ENSMUSG00000049001
AA Change: D111G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169795
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,540,448 (GRCm39) V1497A possibly damaging Het
Adam15 T C 3: 89,255,817 (GRCm39) probably benign Het
Angel2 T A 1: 190,674,360 (GRCm39) S371T probably benign Het
Atr T A 9: 95,743,509 (GRCm39) N49K probably benign Het
Bace2 G A 16: 97,213,335 (GRCm39) M228I probably damaging Het
Bdp1 A C 13: 100,163,941 (GRCm39) probably null Het
Calr A T 8: 85,570,748 (GRCm39) D302E probably benign Het
Camta1 T C 4: 151,164,228 (GRCm39) D340G probably benign Het
Car11 C T 7: 45,352,949 (GRCm39) T236I possibly damaging Het
Cfap69 A T 5: 5,636,409 (GRCm39) S275T probably benign Het
Cib2 G A 9: 54,455,653 (GRCm39) R104W probably damaging Het
CN725425 T C 15: 91,130,018 (GRCm39) S294P possibly damaging Het
Coro7 G A 16: 4,446,097 (GRCm39) S876F possibly damaging Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Dennd6b C A 15: 89,069,540 (GRCm39) probably benign Het
Dhx30 A T 9: 109,914,341 (GRCm39) Y979N possibly damaging Het
Dnaaf9 G A 2: 130,554,299 (GRCm39) P187S probably damaging Het
Dnah8 A T 17: 30,944,098 (GRCm39) I1772F probably damaging Het
Dync2h1 A T 9: 6,993,942 (GRCm39) I3976N possibly damaging Het
Ebi3 T C 17: 56,261,479 (GRCm39) I125T probably damaging Het
Elfn2 C T 15: 78,556,568 (GRCm39) A660T probably benign Het
F12 C T 13: 55,569,346 (GRCm39) C209Y probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T A 7: 129,782,187 (GRCm39) D413V probably damaging Het
Gdf10 T A 14: 33,654,000 (GRCm39) I169N possibly damaging Het
Gdnf T C 15: 7,845,130 (GRCm39) V41A probably benign Het
Gm9857 A T 3: 108,847,478 (GRCm39) probably benign Het
Gpatch11 A G 17: 79,146,529 (GRCm39) E58G possibly damaging Het
Gpr55 A G 1: 85,869,137 (GRCm39) V148A possibly damaging Het
Gucy1b1 A G 3: 81,952,767 (GRCm39) I222T probably benign Het
Hnf4a T C 2: 163,404,496 (GRCm39) S227P probably damaging Het
Hsfy2 A G 1: 56,675,548 (GRCm39) S330P possibly damaging Het
Hycc1 T A 5: 24,204,989 (GRCm39) M1L possibly damaging Het
Ift122 T C 6: 115,900,844 (GRCm39) V1054A probably benign Het
Il27 T A 7: 126,188,647 (GRCm39) E175D probably benign Het
Lactb2 A T 1: 13,730,641 (GRCm39) S12T probably damaging Het
Lrfn2 T C 17: 49,403,605 (GRCm39) V576A probably benign Het
Mansc4 C G 6: 146,976,689 (GRCm39) R309T possibly damaging Het
Med12l AACAGCA AACAGCAACAGCA 3: 59,183,379 (GRCm39) probably benign Het
Mrpl16 C T 19: 11,751,959 (GRCm39) R240* probably null Het
Muc17 A G 5: 137,172,843 (GRCm39) V70A probably benign Het
Nek4 T C 14: 30,704,384 (GRCm39) F688S probably damaging Het
Nkx2-6 T A 14: 69,412,126 (GRCm39) M98K probably benign Het
Nup188 T C 2: 30,230,667 (GRCm39) S1402P probably benign Het
Or10j2 T A 1: 173,098,467 (GRCm39) S242T probably damaging Het
Or2t48 A T 11: 58,420,237 (GRCm39) S192T probably damaging Het
Or4f14b C T 2: 111,775,264 (GRCm39) C179Y probably damaging Het
Or52i2 A G 7: 102,319,609 (GRCm39) T161A possibly damaging Het
Or5ac23 A T 16: 59,149,607 (GRCm39) N88K probably benign Het
Or5ac24 T C 16: 59,165,790 (GRCm39) I91M possibly damaging Het
Or5m9b T A 2: 85,905,594 (GRCm39) V170D probably benign Het
Parp10 A T 15: 76,126,270 (GRCm39) V306E probably benign Het
Pcnx3 A G 19: 5,723,343 (GRCm39) L1284P probably damaging Het
Pld1 A T 3: 28,103,389 (GRCm39) I365F probably benign Het
Pnisr A G 4: 21,865,893 (GRCm39) D294G probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ptprn2 A C 12: 116,685,792 (GRCm39) T84P possibly damaging Het
Rln1 C T 19: 29,309,468 (GRCm39) E104K possibly damaging Het
Rnf38 A G 4: 44,138,681 (GRCm39) S271P probably damaging Het
Rngtt A G 4: 33,368,660 (GRCm39) T398A probably benign Het
Rprd2 G T 3: 95,672,115 (GRCm39) T1096K probably damaging Het
Sema3e C T 5: 14,212,199 (GRCm39) probably benign Het
Sema5a T A 15: 32,548,945 (GRCm39) C140S probably damaging Het
Shpk A C 11: 73,113,757 (GRCm39) D390A probably benign Het
Slc22a20 C T 19: 6,022,876 (GRCm39) probably benign Het
Steap2 A G 5: 5,727,393 (GRCm39) V314A possibly damaging Het
Stxbp5l A G 16: 37,111,289 (GRCm39) probably null Het
Tgm3 G T 2: 129,883,688 (GRCm39) E449* probably null Het
Tmem68 A C 4: 3,560,627 (GRCm39) L186V probably damaging Het
Ttc41 T A 10: 86,612,116 (GRCm39) W1130R possibly damaging Het
Ttpal T C 2: 163,457,286 (GRCm39) F253L possibly damaging Het
Vmn2r99 G T 17: 19,582,514 (GRCm39) V40F probably benign Het
Xkr9 G A 1: 13,771,167 (GRCm39) V228M probably damaging Het
Zc3h7b C T 15: 81,661,268 (GRCm39) A369V probably benign Het
Other mutations in Ndnf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Ndnf APN 6 65,680,242 (GRCm39) missense probably damaging 1.00
IGL01737:Ndnf APN 6 65,680,539 (GRCm39) missense probably benign 0.15
IGL03000:Ndnf APN 6 65,680,299 (GRCm39) missense possibly damaging 0.95
IGL03236:Ndnf APN 6 65,673,156 (GRCm39) missense possibly damaging 0.74
IGL03373:Ndnf APN 6 65,681,272 (GRCm39) missense possibly damaging 0.47
K3955:Ndnf UTSW 6 65,678,413 (GRCm39) splice site probably benign
R1457:Ndnf UTSW 6 65,680,998 (GRCm39) missense possibly damaging 0.82
R1687:Ndnf UTSW 6 65,680,407 (GRCm39) missense probably benign 0.00
R1909:Ndnf UTSW 6 65,680,297 (GRCm39) missense possibly damaging 0.94
R3951:Ndnf UTSW 6 65,680,125 (GRCm39) missense possibly damaging 0.79
R4043:Ndnf UTSW 6 65,680,920 (GRCm39) missense possibly damaging 0.89
R4465:Ndnf UTSW 6 65,681,180 (GRCm39) missense probably benign
R4983:Ndnf UTSW 6 65,680,555 (GRCm39) missense possibly damaging 0.89
R5271:Ndnf UTSW 6 65,680,650 (GRCm39) missense possibly damaging 0.52
R6785:Ndnf UTSW 6 65,680,047 (GRCm39) missense probably benign 0.01
R7874:Ndnf UTSW 6 65,680,413 (GRCm39) missense probably benign
R8049:Ndnf UTSW 6 65,680,414 (GRCm39) missense probably benign 0.04
R8398:Ndnf UTSW 6 65,681,362 (GRCm39) missense probably damaging 0.99
R8729:Ndnf UTSW 6 65,680,758 (GRCm39) nonsense probably null
R8853:Ndnf UTSW 6 65,680,161 (GRCm39) missense probably benign 0.06
R9567:Ndnf UTSW 6 65,681,164 (GRCm39) missense probably damaging 1.00
R9755:Ndnf UTSW 6 65,680,502 (GRCm39) missense probably benign
RF017:Ndnf UTSW 6 65,681,313 (GRCm39) missense probably damaging 0.97
X0066:Ndnf UTSW 6 65,678,501 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCTGACCATCTGCAAGCAAC -3'
(R):5'- GGTACGTCCAAAGGAGGTCACATC -3'

Sequencing Primer
(F):5'- ACTGGATTCTGTCCCAAAGAAG -3'
(R):5'- GGAGGTCACATCAACTCTGG -3'
Posted On 2014-05-09