Incidental Mutation 'R1653:Ndn'
ID 188851
Institutional Source Beutler Lab
Gene Symbol Ndn
Ensembl Gene ENSMUSG00000033585
Gene Name necdin, MAGE family member
Synonyms Peg6
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.744) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 61998025-61999676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61998256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 34 (P34L)
Ref Sequence ENSEMBL: ENSMUSP00000045369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038775]
AlphaFold P25233
Predicted Effect probably benign
Transcript: ENSMUST00000038775
AA Change: P34L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000045369
Gene: ENSMUSG00000033585
AA Change: P34L

DomainStartEndE-ValueType
low complexity region 85 106 N/A INTRINSIC
MAGE 109 279 5.95e-56 SMART
low complexity region 299 317 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207232
Meta Mutation Damage Score 0.1313 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, cyanosis and respiratory distress. Mice heterozygous for a knock-out allele exhibit abnormal behavior, abnormal nervous system morphology and physiology and, when inherited maternally, postnatal lethality with cyanosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Ndn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01512:Ndn APN 7 61,998,481 (GRCm39) missense probably damaging 1.00
IGL02332:Ndn APN 7 61,998,573 (GRCm39) missense probably damaging 0.98
IGL02705:Ndn APN 7 61,998,856 (GRCm39) missense probably damaging 0.99
IGL02824:Ndn APN 7 61,998,582 (GRCm39) missense possibly damaging 0.83
R1525:Ndn UTSW 7 61,998,256 (GRCm39) missense probably benign 0.00
R1595:Ndn UTSW 7 61,998,256 (GRCm39) missense probably benign 0.00
R1598:Ndn UTSW 7 61,998,256 (GRCm39) missense probably benign 0.00
R1636:Ndn UTSW 7 61,998,256 (GRCm39) missense probably benign 0.00
R1638:Ndn UTSW 7 61,998,256 (GRCm39) missense probably benign 0.00
R1791:Ndn UTSW 7 61,998,256 (GRCm39) missense probably benign 0.00
R4674:Ndn UTSW 7 61,998,570 (GRCm39) missense probably damaging 1.00
R7202:Ndn UTSW 7 61,998,709 (GRCm39) missense probably damaging 1.00
R9455:Ndn UTSW 7 61,998,337 (GRCm39) missense possibly damaging 0.91
R9467:Ndn UTSW 7 61,998,903 (GRCm39) missense possibly damaging 0.51
R9605:Ndn UTSW 7 61,998,337 (GRCm39) missense possibly damaging 0.91
R9607:Ndn UTSW 7 61,998,337 (GRCm39) missense possibly damaging 0.91
R9608:Ndn UTSW 7 61,998,337 (GRCm39) missense possibly damaging 0.91
Z1088:Ndn UTSW 7 61,998,882 (GRCm39) missense probably damaging 1.00
Z1176:Ndn UTSW 7 61,998,292 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGGCGCAGTGCTCAGTAAAGC -3'
(R):5'- CATGTCTGGAAACCAGAGGACCATC -3'

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