Incidental Mutation 'R6770:Nde1'
ID 532143
Institutional Source Beutler Lab
Gene Symbol Nde1
Ensembl Gene ENSMUSG00000022678
Gene Name nudE neurodevelopment protein 1
Synonyms mNudE, 2810027M15Rik
MMRRC Submission 044886-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # R6770 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 13981139-14010792 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14006242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 96 (V96I)
Ref Sequence ENSEMBL: ENSMUSP00000119355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023359] [ENSMUST00000115795] [ENSMUST00000117958] [ENSMUST00000132316] [ENSMUST00000149232]
AlphaFold Q9CZA6
Predicted Effect probably damaging
Transcript: ENSMUST00000023359
AA Change: V257I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023359
Gene: ENSMUSG00000022678
AA Change: V257I

DomainStartEndE-ValueType
low complexity region 47 56 N/A INTRINSIC
Pfam:NUDE_C 134 312 1.7e-50 PFAM
low complexity region 324 336 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115795
AA Change: V257I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111461
Gene: ENSMUSG00000022678
AA Change: V257I

DomainStartEndE-ValueType
low complexity region 47 56 N/A INTRINSIC
Pfam:NUDE_C 134 317 1.2e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117958
AA Change: V257I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112817
Gene: ENSMUSG00000022678
AA Change: V257I

DomainStartEndE-ValueType
low complexity region 47 56 N/A INTRINSIC
Pfam:NUDE_C 134 317 9.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132316
SMART Domains Protein: ENSMUSP00000118005
Gene: ENSMUSG00000022678

DomainStartEndE-ValueType
PDB:2V71|B 8 79 2e-14 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000149232
AA Change: V96I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119355
Gene: ENSMUSG00000022678
AA Change: V96I

DomainStartEndE-ValueType
Pfam:NUDE_C 1 167 8.6e-24 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mutants have a small brain with fewer neurons in the cerebral cortex and very thin superficial cortical layers. [provided by MGI curators]
Allele List at MGI

All alleles(37) : Targeted, knock-out(1) Gene trapped(36)
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk A G 14: 21,284,982 (GRCm39) K102E probably damaging Het
Bach2 G A 4: 32,575,240 (GRCm39) V489I possibly damaging Het
Bin1 A G 18: 32,539,202 (GRCm39) E45G probably damaging Het
Btnl4 A G 17: 34,693,011 (GRCm39) Y135H probably benign Het
Btnl9 T C 11: 49,066,392 (GRCm39) probably null Het
Cdh10 A G 15: 18,985,308 (GRCm39) D324G probably benign Het
Cfi T C 3: 129,652,379 (GRCm39) S269P probably benign Het
Ctbp1 G A 5: 33,408,204 (GRCm39) Q243* probably null Het
Dnajc1 G T 2: 18,222,082 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo39 T G 11: 72,208,622 (GRCm39) S325A possibly damaging Het
Gbe1 T C 16: 70,198,726 (GRCm39) S140P probably damaging Het
Gbe1 T A 16: 70,111,153 (GRCm39) L38Q possibly damaging Het
Gm5114 T C 7: 39,057,967 (GRCm39) S551G possibly damaging Het
Ina C T 19: 47,003,366 (GRCm39) probably benign Het
Irs3 A G 5: 137,643,475 (GRCm39) V103A possibly damaging Het
Ldb2 T A 5: 44,826,738 (GRCm39) T66S probably damaging Het
Lrp4 C T 2: 91,327,648 (GRCm39) A1499V probably benign Het
Nrap T C 19: 56,370,969 (GRCm39) probably null Het
Nrxn1 G T 17: 90,344,607 (GRCm39) N435K probably damaging Het
Obscn T C 11: 58,934,862 (GRCm39) D5256G possibly damaging Het
Or1e25 A G 11: 73,493,804 (GRCm39) T133A probably benign Het
Or4a75 A G 2: 89,448,206 (GRCm39) V110A probably benign Het
Or52n20 T A 7: 104,320,725 (GRCm39) I272N probably damaging Het
Or8c14-ps1 T C 9: 38,101,479 (GRCm39) F153L possibly damaging Het
Otoa T A 7: 120,744,837 (GRCm39) M865K probably benign Het
Otud1 A G 2: 19,663,993 (GRCm39) E374G probably benign Het
Pigz T A 16: 31,764,568 (GRCm39) L542H probably damaging Het
Plekhg5 A G 4: 152,187,536 (GRCm39) T101A probably benign Het
Ppic A T 18: 53,544,657 (GRCm39) V51E probably benign Het
Ptpn14 G A 1: 189,564,970 (GRCm39) V186M probably damaging Het
Ryr2 T A 13: 11,753,348 (GRCm39) T1658S probably damaging Het
Scn7a T A 2: 66,559,528 (GRCm39) probably null Het
Siva1 G A 12: 112,614,358 (GRCm39) C73Y probably damaging Het
Slc4a1ap G A 5: 31,685,226 (GRCm39) probably null Het
Sltm A G 9: 70,492,059 (GRCm39) I683V unknown Het
Srgap2 A T 1: 131,226,248 (GRCm39) C22S probably benign Het
Stxbp1 C T 2: 32,709,901 (GRCm39) R64H probably benign Het
Suv39h2 T C 2: 3,473,588 (GRCm39) N114S possibly damaging Het
Tas2r136 T C 6: 132,754,345 (GRCm39) I261V probably benign Het
Trav14-2 A C 14: 53,878,629 (GRCm39) H76P probably damaging Het
Ttc28 T C 5: 111,434,006 (GRCm39) S2316P probably damaging Het
Ubr4 T C 4: 139,216,493 (GRCm39) I5141T unknown Het
Usp46 A G 5: 74,193,015 (GRCm39) V87A probably benign Het
Zfp423 T C 8: 88,508,445 (GRCm39) N612S probably damaging Het
Other mutations in Nde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03013:Nde1 APN 16 14,009,611 (GRCm39) missense probably benign
A4554:Nde1 UTSW 16 14,006,274 (GRCm39) splice site probably benign
PIT4515001:Nde1 UTSW 16 13,988,357 (GRCm39) critical splice donor site probably null
R1473:Nde1 UTSW 16 14,003,728 (GRCm39) missense probably benign 0.07
R2014:Nde1 UTSW 16 13,987,321 (GRCm39) start gained probably benign
R2015:Nde1 UTSW 16 13,987,321 (GRCm39) start gained probably benign
R4426:Nde1 UTSW 16 14,006,200 (GRCm39) missense possibly damaging 0.94
R5116:Nde1 UTSW 16 14,001,351 (GRCm39) missense probably benign 0.19
R5646:Nde1 UTSW 16 13,987,378 (GRCm39) missense probably damaging 1.00
R7722:Nde1 UTSW 16 14,008,128 (GRCm39) missense unknown
R8856:Nde1 UTSW 16 14,001,446 (GRCm39) missense
R9405:Nde1 UTSW 16 14,006,255 (GRCm39) missense probably damaging 1.00
R9574:Nde1 UTSW 16 13,988,345 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTGGTGTGTTGTCCAATTAATTCC -3'
(R):5'- TCTGGACACATGGCTCTCTAC -3'

Sequencing Primer
(F):5'- TGTGTTGTCCAATTAATTCCTTACTG -3'
(R):5'- CAATGAAACTCCTATCGAATGAGCTG -3'
Posted On 2018-08-29