Incidental Mutation 'IGL02350:Ngdn'
ID 289751
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 # IGL02350
Quality Score
Status
Chromosome 14
Chromosomal Location 55252911-55261594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55259393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 179 (V179E)
Ref Sequence ENSEMBL: ENSMUSP00000022815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022815]
AlphaFold Q9DB96
Predicted Effect probably damaging
Transcript: ENSMUST00000022815
AA Change: V179E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022815
Gene: ENSMUSG00000022204
AA Change: V179E

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Ngdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Ngdn APN 14 55,260,626 (GRCm39) missense probably damaging 0.99
IGL01301:Ngdn APN 14 55,254,571 (GRCm39) missense probably benign 0.15
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 2015-04-16