Incidental Mutation 'R7043:Ndel1'
ID 547171
Institutional Source Beutler Lab
Gene Symbol Ndel1
Ensembl Gene ENSMUSG00000018736
Gene Name nudE neurodevelopment protein 1 like 1
Synonyms 2600006O07Rik, mNudel
MMRRC Submission 045142-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7043 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 68712260-68743961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68713450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 329 (L329P)
Ref Sequence ENSEMBL: ENSMUSP00000018880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018880]
AlphaFold Q9ERR1
Predicted Effect possibly damaging
Transcript: ENSMUST00000018880
AA Change: L329P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018880
Gene: ENSMUSG00000018736
AA Change: L329P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,474 (GRCm39) L1596P probably damaging Het
Actr3b A G 5: 26,054,936 (GRCm39) M329V probably benign Het
Avpr1a C T 10: 122,285,586 (GRCm39) R293C probably damaging Het
Bdp1 A T 13: 100,215,215 (GRCm39) C390S probably benign Het
C2cd2l A T 9: 44,227,848 (GRCm39) M131K probably damaging Het
Ccna2 T C 3: 36,624,302 (GRCm39) probably benign Het
Cd53 T C 3: 106,670,577 (GRCm39) D152G probably damaging Het
Cdpf1 A T 15: 85,692,485 (GRCm39) V66E probably null Het
Chd9 G T 8: 91,760,843 (GRCm39) probably benign Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Dst A G 1: 34,296,992 (GRCm39) T5794A probably damaging Het
Eif2s1 G T 12: 78,923,882 (GRCm39) R113L probably damaging Het
Eif5 A G 12: 111,511,030 (GRCm39) D423G probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
F7 A T 8: 13,083,997 (GRCm39) R227S probably benign Het
Gm14496 T G 2: 181,642,120 (GRCm39) I597S possibly damaging Het
Gpr85 T A 6: 13,835,876 (GRCm39) N343Y probably damaging Het
H2-T23 A T 17: 36,342,803 (GRCm39) S112T probably damaging Het
Itga9 C T 9: 118,598,184 (GRCm39) P573S probably damaging Het
Kcnb2 A T 1: 15,383,150 (GRCm39) M159L probably benign Het
Kmt5b T A 19: 3,865,220 (GRCm39) S738R possibly damaging Het
Lrp1b T C 2: 40,812,426 (GRCm39) N2393S possibly damaging Het
Mme T A 3: 63,252,638 (GRCm39) Y427* probably null Het
Naip1 A G 13: 100,563,422 (GRCm39) V581A probably damaging Het
Nthl1 T G 17: 24,857,644 (GRCm39) V281G probably benign Het
Or52ab2 C A 7: 102,970,292 (GRCm39) probably benign Het
Per2 G T 1: 91,347,130 (GRCm39) H1197Q probably benign Het
Phf8-ps T C 17: 33,284,306 (GRCm39) D832G possibly damaging Het
Plec G A 15: 76,093,328 (GRCm39) probably benign Het
Prpf6 A T 2: 181,291,297 (GRCm39) H704L probably benign Het
Recql5 C T 11: 115,821,502 (GRCm39) probably null Het
Rimbp3 G A 16: 17,028,972 (GRCm39) V799M probably damaging Het
Sema3f C T 9: 107,568,599 (GRCm39) A169T possibly damaging Het
Serpinb9f T C 13: 33,509,970 (GRCm39) I54T possibly damaging Het
Skint5 A T 4: 113,574,304 (GRCm39) L749Q unknown Het
Slc35g3 T C 11: 69,652,476 (GRCm39) D12G probably benign Het
Sptbn1 A G 11: 30,053,323 (GRCm39) V2252A probably benign Het
Stab2 T C 10: 86,706,110 (GRCm39) N1750S probably damaging Het
Supt5 C A 7: 28,019,435 (GRCm39) R543L probably benign Het
Syne1 T C 10: 5,022,193 (GRCm39) E7806G possibly damaging Het
Syt12 T A 19: 4,501,049 (GRCm39) M334L probably benign Het
Tk1 A G 11: 117,706,779 (GRCm39) *234R probably null Het
Trp73 T G 4: 154,151,464 (GRCm39) probably null Het
Ttn A G 2: 76,727,477 (GRCm39) probably benign Het
Vmn2r11 T C 5: 109,200,098 (GRCm39) I452V probably benign Het
Wwox G T 8: 115,406,578 (GRCm39) V190L probably damaging Het
Wwp2 A G 8: 108,184,532 (GRCm39) H80R probably benign Het
Zc3h3 A G 15: 75,681,485 (GRCm39) I532T probably damaging Het
Zfp280d A G 9: 72,226,539 (GRCm39) K328E probably damaging Het
Zfp365 A G 10: 67,745,656 (GRCm39) S41P probably damaging Het
Other mutations in Ndel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03236:Ndel1 APN 11 68,732,976 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- TGATATCGCGCAGAGTCCTG -3'
(R):5'- TAGCTGTGATCCTACTGTGGGTAAG -3'

Sequencing Primer
(F):5'- ATGCAGCCTGCCCTCTG -3'
(R):5'- TCCTACTGTGGGTAAGGAAGAG -3'
Posted On 2019-05-13