Incidental Mutation 'IGL03236:Ndel1'
ID 414052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndel1
Ensembl Gene ENSMUSG00000018736
Gene Name nudE neurodevelopment protein 1 like 1
Synonyms 2600006O07Rik, mNudel
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03236
Quality Score
Status
Chromosome 11
Chromosomal Location 68712260-68743961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68732976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 87 (Y87H)
Ref Sequence ENSEMBL: ENSMUSP00000104312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018880] [ENSMUST00000101017] [ENSMUST00000108672]
AlphaFold Q9ERR1
Predicted Effect probably benign
Transcript: ENSMUST00000018880
AA Change: Y87H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018880
Gene: ENSMUSG00000018736
AA Change: Y87H

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
Pfam:NUDE_C 135 309 6.6e-49 PFAM
low complexity region 322 339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101017
AA Change: Y87H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098579
Gene: ENSMUSG00000018736
AA Change: Y87H

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
Pfam:NUDE_C 135 315 9.3e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108672
AA Change: Y87H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104312
Gene: ENSMUSG00000018736
AA Change: Y87H

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
Pfam:NUDE_C 135 315 9.3e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144300
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous inactivation of this gene causes peri-implantation lethality. Blastocysts fail to grow in culture and exhibit inner cell mass degeneration. Compound heterozygous mice carrying one null and one hypomorphic allele show mild neuronal migration defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,246,486 (GRCm39) T11A probably benign Het
Abca17 A G 17: 24,545,450 (GRCm39) probably benign Het
Aox1 G T 1: 58,349,156 (GRCm39) E641* probably null Het
Arhgef10l G T 4: 140,338,671 (GRCm39) D30E probably damaging Het
Arhgef37 A T 18: 61,656,897 (GRCm39) I56N probably damaging Het
Cwf19l1 T C 19: 44,115,887 (GRCm39) I181V probably benign Het
Dnai2 A G 11: 114,648,075 (GRCm39) probably benign Het
Elp2 A G 18: 24,755,300 (GRCm39) probably benign Het
Epb41l4a G A 18: 33,943,272 (GRCm39) S541L probably damaging Het
Ibsp A C 5: 104,453,871 (GRCm39) N70H probably benign Het
Ikzf1 A G 11: 11,657,848 (GRCm39) E35G probably damaging Het
Kdm5a T C 6: 120,415,949 (GRCm39) V1623A probably damaging Het
Kpna7 A T 5: 144,922,504 (GRCm39) V499E unknown Het
Krtap4-16 C A 11: 99,741,962 (GRCm39) R146L unknown Het
Map2k5 T A 9: 63,193,674 (GRCm39) probably benign Het
Mfn2 A G 4: 147,966,562 (GRCm39) F543S probably damaging Het
Mical3 A G 6: 120,946,345 (GRCm39) L1052P probably benign Het
Mycbp2 T C 14: 103,536,134 (GRCm39) N272S probably damaging Het
Ndnf G A 6: 65,673,156 (GRCm39) V45M possibly damaging Het
Nr3c1 A G 18: 39,619,444 (GRCm39) I281T probably benign Het
Ntm A G 9: 29,020,802 (GRCm39) V139A probably benign Het
Or5ac23 A C 16: 59,149,200 (GRCm39) V224G probably damaging Het
Pkhd1l1 T G 15: 44,445,222 (GRCm39) V3698G probably damaging Het
Plcb1 A G 2: 135,188,226 (GRCm39) Y773C probably damaging Het
Prkaca T A 8: 84,717,074 (GRCm39) F138Y probably damaging Het
Qser1 T C 2: 104,616,877 (GRCm39) T1312A probably benign Het
Slc47a2 T C 11: 61,204,505 (GRCm39) E282G probably damaging Het
Smchd1 G A 17: 71,698,425 (GRCm39) T1117I possibly damaging Het
Utp6 A G 11: 79,851,567 (GRCm39) probably benign Het
Vmn1r66 T A 7: 10,008,990 (GRCm39) K14N probably damaging Het
Vmn1r71 A T 7: 10,482,211 (GRCm39) V93E probably benign Het
Zfp768 G A 7: 126,943,142 (GRCm39) L329F possibly damaging Het
Other mutations in Ndel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4342:Ndel1 UTSW 11 68,724,235 (GRCm39) missense probably damaging 0.97
R0025:Ndel1 UTSW 11 68,726,999 (GRCm39) missense probably damaging 0.97
R0088:Ndel1 UTSW 11 68,724,246 (GRCm39) missense probably damaging 0.98
R1510:Ndel1 UTSW 11 68,713,482 (GRCm39) missense possibly damaging 0.80
R1944:Ndel1 UTSW 11 68,720,746 (GRCm39) missense probably benign
R4710:Ndel1 UTSW 11 68,736,163 (GRCm39) missense probably damaging 0.99
R5940:Ndel1 UTSW 11 68,713,397 (GRCm39) utr 3 prime probably benign
R6293:Ndel1 UTSW 11 68,727,101 (GRCm39) missense probably damaging 1.00
R6678:Ndel1 UTSW 11 68,724,239 (GRCm39) missense possibly damaging 0.87
R7043:Ndel1 UTSW 11 68,713,450 (GRCm39) missense possibly damaging 0.70
R7107:Ndel1 UTSW 11 68,713,474 (GRCm39) missense possibly damaging 0.90
R7840:Ndel1 UTSW 11 68,720,806 (GRCm39) nonsense probably null
R8866:Ndel1 UTSW 11 68,734,645 (GRCm39) critical splice donor site probably null
X0013:Ndel1 UTSW 11 68,730,814 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02