Incidental Mutation 'R1525:Ndn'
ID 167782
Institutional Source Beutler Lab
Gene Symbol Ndn
Ensembl Gene ENSMUSG00000033585
Gene Name necdin, MAGE family member
Synonyms Peg6
MMRRC Submission 040872-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.744) question?
Stock # R1525 (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: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,252,062 (GRCm39) H840Q probably benign Het
Amotl2 C T 9: 102,605,767 (GRCm39) R540C probably damaging Het
Brpf1 A G 6: 113,294,115 (GRCm39) E605G probably damaging Het
Cacna2d3 T C 14: 28,694,199 (GRCm39) I865V probably benign Het
Cdh24 A T 14: 54,876,046 (GRCm39) F199I probably damaging Het
Cdk9 A G 2: 32,600,521 (GRCm39) V27A probably damaging Het
Cfap69 G T 5: 5,690,230 (GRCm39) probably null Het
Cyp2d11 G T 15: 82,273,498 (GRCm39) L458I probably damaging Het
Dchs1 T C 7: 105,408,138 (GRCm39) E1898G probably damaging Het
Dennd4b G T 3: 90,178,177 (GRCm39) L456F probably damaging Het
Dgat1 T C 15: 76,395,786 (GRCm39) T66A probably benign Het
Dock10 C A 1: 80,583,881 (GRCm39) probably null Het
Fam110b A G 4: 5,799,578 (GRCm39) D332G possibly damaging Het
Fem1al A C 11: 29,773,994 (GRCm39) Y488D probably benign Het
Frmd4b G A 6: 97,273,347 (GRCm39) P628S probably damaging Het
Ice1 A T 13: 70,753,529 (GRCm39) H852Q probably benign Het
Il17ra T C 6: 120,450,751 (GRCm39) V116A probably damaging Het
Ints9 T C 14: 65,232,460 (GRCm39) I173T probably benign Het
Kctd14 A T 7: 97,107,074 (GRCm39) M110L probably benign Het
Krt6a T G 15: 101,602,637 (GRCm39) Y16S probably benign Het
Lamc2 T C 1: 153,006,502 (GRCm39) N883S probably benign Het
Larp4b C T 13: 9,195,486 (GRCm39) T195M probably damaging Het
Lrp1 A G 10: 127,375,398 (GRCm39) L4432P probably damaging Het
Mei4 T C 9: 81,772,252 (GRCm39) S22P probably damaging Het
Mep1a T C 17: 43,802,527 (GRCm39) Q166R probably damaging Het
Mroh2b C A 15: 4,980,612 (GRCm39) probably null Het
Myoc T G 1: 162,476,220 (GRCm39) L308R probably damaging Het
Or1j21 A T 2: 36,684,155 (GRCm39) R302S probably null Het
Or2t6 T A 14: 14,175,725 (GRCm38) Y119F probably damaging Het
Or4c101 C G 2: 88,389,985 (GRCm39) S57R probably damaging Het
Pdilt T A 7: 119,087,217 (GRCm39) T478S probably damaging Het
Pias1 T C 9: 62,827,769 (GRCm39) K222E probably damaging Het
Prss16 A C 13: 22,193,613 (GRCm39) L61V possibly damaging Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Pvr G A 7: 19,644,551 (GRCm39) Q328* probably null Het
Ranbp3 A G 17: 57,017,865 (GRCm39) D481G possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr3 G T 2: 112,508,435 (GRCm39) D3419E probably damaging Het
Scn1a C T 2: 66,149,806 (GRCm39) W946* probably null Het
Sh3pxd2a T C 19: 47,266,864 (GRCm39) K242E probably damaging Het
Slc34a2 A G 5: 53,226,848 (GRCm39) D657G probably benign Het
Stard9 T A 2: 120,532,533 (GRCm39) I2930K probably benign Het
Syna T C 5: 134,588,112 (GRCm39) D279G probably benign Het
Tfr2 T C 5: 137,577,292 (GRCm39) F415L probably benign Het
Tmem97 T A 11: 78,433,586 (GRCm39) Y103F probably damaging Het
Tmem97 A T 11: 78,433,587 (GRCm39) Y103N probably damaging Het
Txndc2 T A 17: 65,945,310 (GRCm39) D289V probably damaging Het
Zbtb1 T G 12: 76,433,206 (GRCm39) D397E probably benign Het
Zc3h18 T C 8: 123,140,677 (GRCm39) S847P probably benign Het
Zfp382 G A 7: 29,833,144 (GRCm39) G265E probably damaging Het
Zfp410 T C 12: 84,369,740 (GRCm39) L39S probably damaging Het
Zfp729a G T 13: 67,767,440 (GRCm39) P930T probably benign 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
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
R1653: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 2014-04-13