Incidental Mutation 'IGL00924:Ngdn'
ID 28945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ngdn
Ensembl Gene ENSMUSG00000022204
Gene Name neuroguidin, EIF4E binding protein
Synonyms 1500001L15Rik, Ngd, neuroguidin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00924
Quality Score
Status
Chromosome 14
Chromosomal Location 55252911-55261594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55260626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 278 (I278T)
Ref Sequence ENSEMBL: ENSMUSP00000022815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022815]
AlphaFold Q9DB96
Predicted Effect probably damaging
Transcript: ENSMUST00000022815
AA Change: I278T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022815
Gene: ENSMUSG00000022204
AA Change: I278T

DomainStartEndE-ValueType
Pfam:Sas10_Utp3 18 98 1.3e-18 PFAM
low complexity region 142 170 N/A INTRINSIC
low complexity region 296 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227833
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,255,021 (GRCm39) V112A probably benign Het
Atp1a4 T A 1: 172,074,339 (GRCm39) I305F probably damaging Het
AW209491 A G 13: 14,811,660 (GRCm39) N171S probably damaging Het
Bank1 G T 3: 135,953,395 (GRCm39) A120E probably damaging Het
Bdp1 T A 13: 100,234,087 (GRCm39) E206D possibly damaging Het
Brd1 T C 15: 88,613,612 (GRCm39) K428E possibly damaging Het
Ccdc42 A G 11: 68,485,447 (GRCm39) I191V probably benign Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Cpm T G 10: 117,511,971 (GRCm39) I305S probably damaging Het
Cracd A G 5: 77,006,833 (GRCm39) T1065A unknown Het
Dlc1 A T 8: 37,405,368 (GRCm39) S140R probably benign Het
Dnajc14 A G 10: 128,653,188 (GRCm39) T674A probably benign Het
Dnajc7 A G 11: 100,475,111 (GRCm39) I437T possibly damaging Het
Entpd5 A T 12: 84,433,828 (GRCm39) V147E probably damaging Het
Gpr139 A G 7: 118,783,510 (GRCm39) C30R probably benign Het
Habp4 A G 13: 64,321,885 (GRCm39) D174G probably damaging Het
Has3 T C 8: 107,605,231 (GRCm39) F479S probably benign Het
Helb T A 10: 119,946,889 (GRCm39) K141N probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kdm1b G A 13: 47,221,956 (GRCm39) R465H probably benign Het
Lrrc57 A T 2: 120,436,532 (GRCm39) M86K possibly damaging Het
Map7d1 A G 4: 126,132,398 (GRCm39) V258A probably damaging Het
Mtcl2 T G 2: 156,882,625 (GRCm39) M476L probably damaging Het
Mybbp1a T A 11: 72,334,393 (GRCm39) F216Y probably damaging Het
Ncan T A 8: 70,561,039 (GRCm39) M643L possibly damaging Het
Or4c104 T C 2: 88,586,500 (GRCm39) D173G possibly damaging Het
Or9a4 C T 6: 40,548,388 (GRCm39) R23C probably benign Het
P4hb G T 11: 120,454,644 (GRCm39) Q245K probably benign Het
Pcx G A 19: 4,670,965 (GRCm39) V1089I probably benign Het
Phc3 A T 3: 30,990,624 (GRCm39) M498K probably damaging Het
Pkd1 T A 17: 24,790,601 (GRCm39) L1025* probably null Het
Sdhaf2 G A 19: 10,494,380 (GRCm39) P110S probably damaging Het
Slc22a20 T C 19: 6,020,544 (GRCm39) K538E probably benign Het
Spag11b T A 8: 19,192,656 (GRCm39) V78D probably damaging Het
Tgm3 T C 2: 129,880,294 (GRCm39) C367R probably damaging Het
Unc5a G A 13: 55,152,327 (GRCm39) E741K probably damaging Het
Vmn2r58 A T 7: 41,486,891 (GRCm39) L668H probably damaging Het
Wdr62 G A 7: 29,964,643 (GRCm39) T367I probably damaging Het
Wdr62 G A 7: 29,942,231 (GRCm39) P603S probably damaging Het
Xab2 G A 8: 3,661,723 (GRCm39) R577W probably damaging Het
Other mutations in Ngdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Ngdn APN 14 55,254,571 (GRCm39) missense probably benign 0.15
IGL02350:Ngdn APN 14 55,259,393 (GRCm39) missense probably damaging 1.00
IGL02357:Ngdn APN 14 55,259,393 (GRCm39) missense probably damaging 1.00
ANU18:Ngdn UTSW 14 55,254,571 (GRCm39) missense probably benign 0.15
PIT4651001:Ngdn UTSW 14 55,253,657 (GRCm39) missense probably benign 0.05
R2062:Ngdn UTSW 14 55,259,564 (GRCm39) missense possibly damaging 0.93
R2251:Ngdn UTSW 14 55,260,852 (GRCm39) critical splice donor site probably null
R5167:Ngdn UTSW 14 55,259,656 (GRCm39) nonsense probably null
R5492:Ngdn UTSW 14 55,260,509 (GRCm39) missense probably benign 0.00
R6174:Ngdn UTSW 14 55,259,556 (GRCm39) missense probably benign 0.38
R6712:Ngdn UTSW 14 55,253,645 (GRCm39) missense probably benign 0.18
R7866:Ngdn UTSW 14 55,258,554 (GRCm39) missense probably damaging 1.00
R8303:Ngdn UTSW 14 55,260,602 (GRCm39) missense probably benign 0.01
R9587:Ngdn UTSW 14 55,254,578 (GRCm39) missense probably benign 0.03
R9669:Ngdn UTSW 14 55,259,339 (GRCm39) missense possibly damaging 0.56
R9737:Ngdn UTSW 14 55,259,339 (GRCm39) missense possibly damaging 0.56
X0025:Ngdn UTSW 14 55,259,372 (GRCm39) missense possibly damaging 0.71
Z1177:Ngdn UTSW 14 55,259,401 (GRCm39) missense probably null 1.00
Posted On 2013-04-17