Incidental Mutation 'IGL02332:Ndn'
ID 288749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndn
Ensembl Gene ENSMUSG00000033585
Gene Name necdin
Synonyms Peg6
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.768) question?
Stock # IGL02332
Quality Score
Status
Chromosome 7
Chromosomal Location 62346569-62350262 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62348825 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 140 (C140S)
Ref Sequence ENSEMBL: ENSMUSP00000045369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038775]
AlphaFold P25233
Predicted Effect probably damaging
Transcript: ENSMUST00000038775
AA Change: C140S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045369
Gene: ENSMUSG00000033585
AA Change: C140S

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
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dio1 A T 4: 107,293,781 Y169N probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
P2rx2 T C 5: 110,341,805 S116G probably benign Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Pdcl2 A T 5: 76,319,135 Y70* probably null Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Ppp2r3a A G 9: 101,180,403 F180L possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Sez6 C T 11: 77,954,742 probably benign Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Syt13 T C 2: 92,940,804 F79L probably benign Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Tuft1 A C 3: 94,615,768 probably null Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign Het
Other mutations in Ndn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01512:Ndn APN 7 62348733 missense probably damaging 1.00
IGL02705:Ndn APN 7 62349108 missense probably damaging 0.99
IGL02824:Ndn APN 7 62348834 missense possibly damaging 0.83
R1525:Ndn UTSW 7 62348508 missense probably benign 0.00
R1595:Ndn UTSW 7 62348508 missense probably benign 0.00
R1598:Ndn UTSW 7 62348508 missense probably benign 0.00
R1636:Ndn UTSW 7 62348508 missense probably benign 0.00
R1638:Ndn UTSW 7 62348508 missense probably benign 0.00
R1653:Ndn UTSW 7 62348508 missense probably benign 0.00
R1791:Ndn UTSW 7 62348508 missense probably benign 0.00
R4674:Ndn UTSW 7 62348822 missense probably damaging 1.00
R7202:Ndn UTSW 7 62348961 missense probably damaging 1.00
R9455:Ndn UTSW 7 62348589 missense possibly damaging 0.91
R9467:Ndn UTSW 7 62349155 missense possibly damaging 0.51
Z1088:Ndn UTSW 7 62349134 missense probably damaging 1.00
Z1176:Ndn UTSW 7 62348544 missense probably benign 0.00
Posted On 2015-04-16