Incidental Mutation 'R4710:Ndel1'
ID 353222
Institutional Source Beutler Lab
Gene Symbol Ndel1
Ensembl Gene ENSMUSG00000018736
Gene Name nudE neurodevelopment protein 1 like 1
Synonyms 2600006O07Rik, mNudel
MMRRC Submission 042019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4710 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 68712260-68743961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68736163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 26 (Y26H)
Ref Sequence ENSEMBL: ENSMUSP00000104312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018880] [ENSMUST00000101017] [ENSMUST00000108672]
AlphaFold Q9ERR1
Predicted Effect probably damaging
Transcript: ENSMUST00000018880
AA Change: Y26H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018880
Gene: ENSMUSG00000018736
AA Change: Y26H

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 damaging
Transcript: ENSMUST00000101017
AA Change: Y26H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098579
Gene: ENSMUSG00000018736
AA Change: Y26H

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
Pfam:NUDE_C 135 315 9.3e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108672
AA Change: Y26H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104312
Gene: ENSMUSG00000018736
AA Change: Y26H

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: ENSMUST00000144300
Meta Mutation Damage Score 0.0813 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (75/76)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,618,262 (GRCm39) Q185L probably benign Het
Acaca T A 11: 84,283,163 (GRCm39) I2243N possibly damaging Het
Adamts18 A G 8: 114,433,558 (GRCm39) S1059P probably damaging Het
Aox4 A T 1: 58,294,797 (GRCm39) K1002M probably damaging Het
Ap1b1 A G 11: 4,981,664 (GRCm39) Y524C probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cntn2 T A 1: 132,455,963 (GRCm39) H185L possibly damaging Het
Col4a2 C A 8: 11,459,462 (GRCm39) P299Q probably benign Het
Commd3 A G 2: 18,679,093 (GRCm39) N106S probably benign Het
Coro7 T G 16: 4,452,797 (GRCm39) probably benign Het
Ctf1 C A 7: 127,316,252 (GRCm39) P66Q probably damaging Het
Dclre1c T C 2: 3,441,898 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,529,493 (GRCm39) L317Q probably damaging Het
Dnah2 A G 11: 69,368,903 (GRCm39) L1667P probably damaging Het
Dpp4 A G 2: 62,190,659 (GRCm39) I399T probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Erg T C 16: 95,190,893 (GRCm39) D90G possibly damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Gimd1 T C 3: 132,340,609 (GRCm39) S42P possibly damaging Het
Gm5526 T A 1: 45,896,579 (GRCm39) noncoding transcript Het
Gnl2 T A 4: 124,947,252 (GRCm39) S625T probably benign Het
H2-Q2 A G 17: 35,562,278 (GRCm39) E175G probably damaging Het
Hmgxb3 G A 18: 61,270,547 (GRCm39) P926S probably damaging Het
Ifi213 G A 1: 173,394,738 (GRCm39) probably benign Het
Inhba T C 13: 16,201,068 (GRCm39) V210A probably benign Het
Kansl1l G A 1: 66,840,655 (GRCm39) A215V possibly damaging Het
Kcnk1 T A 8: 126,756,267 (GRCm39) V263D probably damaging Het
Kcnk9 A G 15: 72,384,824 (GRCm39) I118T probably damaging Het
Lamb1 A G 12: 31,332,582 (GRCm39) I283V probably benign Het
Larp7-ps T C 4: 92,079,212 (GRCm39) E203G possibly damaging Het
Lias A G 5: 65,555,070 (GRCm39) D88G probably benign Het
Lrrk2 G A 15: 91,584,130 (GRCm39) V297M possibly damaging Het
Maea C T 5: 33,526,034 (GRCm39) R237C probably benign Het
Mdfi T A 17: 48,135,511 (GRCm39) N73I probably damaging Het
Mphosph6 T A 8: 118,528,641 (GRCm39) M1L probably damaging Het
Mta2 T A 19: 8,926,517 (GRCm39) I486N probably damaging Het
Nbr1 C T 11: 101,466,101 (GRCm39) P769L probably damaging Het
Ncam2 T A 16: 81,262,594 (GRCm39) probably null Het
Neb T C 2: 52,150,610 (GRCm39) R2473G probably benign Het
Or10ag53 T A 2: 87,082,384 (GRCm39) D34E possibly damaging Het
Or2t46 A T 11: 58,472,548 (GRCm39) I293F probably damaging Het
Or4c3d T C 2: 89,882,494 (GRCm39) Y58C probably damaging Het
Or5h19 T A 16: 58,856,638 (GRCm39) H154L possibly damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Prkn A C 17: 12,073,720 (GRCm39) Q346P possibly damaging Het
Prrc2b T A 2: 32,083,869 (GRCm39) S236R possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Rnf112 T C 11: 61,340,657 (GRCm39) D491G probably damaging Het
Rnf220 C T 4: 117,146,411 (GRCm39) probably benign Het
Ryr3 G A 2: 112,596,646 (GRCm39) L2483F probably damaging Het
Sema6a T C 18: 47,403,750 (GRCm39) N624S probably benign Het
Sgms1 C T 19: 32,137,537 (GRCm39) V10M probably damaging Het
Slc23a2 T C 2: 131,898,629 (GRCm39) N636S probably benign Het
Slc25a48 C T 13: 56,611,379 (GRCm39) T162I probably damaging Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Snrnp200 T C 2: 127,068,053 (GRCm39) L850P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox18 A G 2: 181,312,688 (GRCm39) Y148H probably damaging Het
Stk-ps1 A G 17: 36,708,562 (GRCm39) noncoding transcript Het
Tas2r104 T A 6: 131,662,407 (GRCm39) T101S probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn2r4 A G 3: 64,317,201 (GRCm39) probably null Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfat A T 15: 68,052,131 (GRCm39) D554E probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y 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
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
Predicted Primers PCR Primer
(F):5'- GGCACCAAAGCTTCCTGATAG -3'
(R):5'- ATGTGCCTAAGTTACAGGAAAGTG -3'

Sequencing Primer
(F):5'- CCAAAGCTTCCTGATAGTTCAAGCTG -3'
(R):5'- AGTGCCAGTAACTCCTAGAACCTTTG -3'
Posted On 2015-10-21