Incidental Mutation 'IGL01301:Ngdn'
ID 73235
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 # IGL01301
Quality Score
Status
Chromosome 14
Chromosomal Location 55252911-55261594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55254571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 41 (A41S)
Ref Sequence ENSEMBL: ENSMUSP00000022815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022815]
AlphaFold Q9DB96
Predicted Effect probably benign
Transcript: ENSMUST00000022815
AA Change: A41S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022815
Gene: ENSMUSG00000022204
AA Change: A41S

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,164,181 (GRCm39) probably null Het
Acacb A T 5: 114,384,559 (GRCm39) I2238L probably benign Het
Aldh1l2 T C 10: 83,358,710 (GRCm39) Y95C probably damaging Het
Asxl2 A G 12: 3,551,425 (GRCm39) T1056A probably damaging Het
B4galnt1 A G 10: 127,005,648 (GRCm39) T250A possibly damaging Het
Cela3b A T 4: 137,151,154 (GRCm39) probably null Het
Chst3 T C 10: 60,021,654 (GRCm39) T398A probably damaging Het
Cngb3 A G 4: 19,425,625 (GRCm39) T478A probably damaging Het
Cyp4a10 T C 4: 115,375,652 (GRCm39) L45P probably damaging Het
Defb21 A G 2: 152,416,671 (GRCm39) E49G possibly damaging Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dnmbp A G 19: 43,890,793 (GRCm39) S325P probably benign Het
Fam91a1 T C 15: 58,314,720 (GRCm39) F534L probably damaging Het
Fermt2 T C 14: 45,702,320 (GRCm39) E488G probably damaging Het
Filip1 T C 9: 79,726,462 (GRCm39) D719G possibly damaging Het
Gad1-ps A G 10: 99,281,013 (GRCm39) noncoding transcript Het
Glra3 C A 8: 56,393,997 (GRCm39) A36E probably benign Het
Gm9884 T A 1: 25,869,729 (GRCm39) probably benign Het
Hectd2 T C 19: 36,546,770 (GRCm39) probably benign Het
Hnrnpm C T 17: 33,888,142 (GRCm39) probably null Het
Lrrk2 T A 15: 91,651,542 (GRCm39) Y1733N probably damaging Het
Mindy1 T C 3: 95,195,701 (GRCm39) L148P probably damaging Het
Mkrn2 C A 6: 115,588,750 (GRCm39) Y164* probably null Het
Msra T C 14: 64,447,884 (GRCm39) Y135C probably damaging Het
Ndst3 C T 3: 123,342,565 (GRCm39) A749T probably damaging Het
Nlrp12 A T 7: 3,288,722 (GRCm39) S597T probably damaging Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Pabpc6 A G 17: 9,886,899 (GRCm39) S551P probably benign Het
Plekhg5 C T 4: 152,197,010 (GRCm39) A752V probably benign Het
Prpf4b T C 13: 35,068,274 (GRCm39) S368P probably benign Het
Pus7 A G 5: 23,951,422 (GRCm39) probably null Het
Rad23b T C 4: 55,366,774 (GRCm39) probably benign Het
Rgs13 T C 1: 144,047,152 (GRCm39) probably benign Het
Sfpq T C 4: 126,920,553 (GRCm39) probably benign Het
Slc9a9 T A 9: 94,937,512 (GRCm39) S455T probably benign Het
Slco1a1 A G 6: 141,878,256 (GRCm39) probably benign Het
Tmem26 A T 10: 68,614,436 (GRCm39) N284Y probably damaging Het
Tmem87a T C 2: 120,211,250 (GRCm39) I232V probably benign Het
Trpm2 A G 10: 77,759,818 (GRCm39) L1106P probably damaging Het
Vmn1r18 T C 6: 57,366,652 (GRCm39) probably benign Het
Zfp213 G T 17: 23,780,391 (GRCm39) A43D probably benign Het
Zfp365 A G 10: 67,745,184 (GRCm39) V198A probably damaging Het
Zfp395 T A 14: 65,632,200 (GRCm39) probably null Het
Zfp618 G A 4: 63,051,063 (GRCm39) V615M probably damaging Het
Other mutations in Ngdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Ngdn APN 14 55,260,626 (GRCm39) missense probably damaging 0.99
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 2013-10-07