Incidental Mutation 'R4465:Ndnf'
ID 330303
Institutional Source Beutler Lab
Gene Symbol Ndnf
Ensembl Gene ENSMUSG00000049001
Gene Name neuron-derived neurotrophic factor
Synonyms epidermacan, A930038C07Rik
MMRRC Submission 041580-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R4465 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 65648595-65689307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65681180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 486 (D486E)
Ref Sequence ENSEMBL: ENSMUSP00000051297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054351]
AlphaFold Q8C119
Predicted Effect probably benign
Transcript: ENSMUST00000054351
AA Change: D486E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051297
Gene: ENSMUSG00000049001
AA Change: D486E

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,168,580 (GRCm39) Y180H probably damaging Het
Adgrb3 G T 1: 25,133,447 (GRCm39) T1213K probably damaging Het
Atrn A G 2: 130,802,388 (GRCm39) T510A probably benign Het
Clasp1 C A 1: 118,488,808 (GRCm39) T857N probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col12a1 C A 9: 79,580,192 (GRCm39) V1562F possibly damaging Het
Cyp4f40 T A 17: 32,890,186 (GRCm39) D285E probably benign Het
Dis3 G A 14: 99,321,550 (GRCm39) S599L possibly damaging Het
Dnah11 T C 12: 117,951,186 (GRCm39) T3041A probably benign Het
Erbin T C 13: 103,981,393 (GRCm39) N511D probably benign Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Gm11541 A T 11: 94,595,048 (GRCm39) C7S unknown Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lao1 C A 4: 118,822,504 (GRCm39) S141R probably benign Het
Lrrk2 A G 15: 91,632,023 (GRCm39) K1316E probably damaging Het
Map3k6 A G 4: 132,973,644 (GRCm39) Y445C possibly damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Or2a54 T C 6: 43,092,852 (GRCm39) Y59H probably damaging Het
Or8h7 A T 2: 86,721,494 (GRCm39) N8K probably benign Het
Or8k37 A T 2: 86,469,478 (GRCm39) N191K probably benign Het
Rab19 T C 6: 39,365,060 (GRCm39) S107P probably damaging Het
Slc22a29 A T 19: 8,140,088 (GRCm39) L439* probably null Het
Slc5a1 A G 5: 33,303,860 (GRCm39) E225G possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Snx25 A G 8: 46,521,266 (GRCm39) S373P possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Homo
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Zdhhc22 G A 12: 87,034,997 (GRCm39) L152F probably benign Het
Zfpm2 T G 15: 40,959,557 (GRCm39) M80R 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
R1670:Ndnf UTSW 6 65,680,054 (GRCm39) missense probably benign 0.00
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
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'- TACCTCATTCGACTGAAAGGC -3'
(R):5'- TGTCCTACGACGTAAACATCC -3'

Sequencing Primer
(F):5'- CTCATTCGACTGAAAGGCAACAGG -3'
(R):5'- CAGCAGGTAAGACTTCCCAGG -3'
Posted On 2015-07-21