Incidental Mutation 'IGL02605:Elmo1'
ID 300227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02605
Quality Score
Status
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20789372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 696 (L696P)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect probably damaging
Transcript: ENSMUST00000072519
AA Change: L696P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: L696P

DomainStartEndE-ValueType
Pfam:DUF3361 115 280 3.8e-64 PFAM
Pfam:ELMO_CED12 303 481 2.8e-42 PFAM
PH 555 676 2.32e0 SMART
low complexity region 704 717 N/A INTRINSIC
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 member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,547,602 (GRCm39) Y992F probably benign Het
Adgrg6 T A 10: 14,342,976 (GRCm39) N324Y probably damaging Het
Ampd3 T C 7: 110,394,965 (GRCm39) F305L probably benign Het
Ankrd35 A G 3: 96,588,388 (GRCm39) probably null Het
Api5 A G 2: 94,260,064 (GRCm39) I64T possibly damaging Het
Arhgap21 A G 2: 20,860,399 (GRCm39) I1165T probably damaging Het
Bdp1 T C 13: 100,214,623 (GRCm39) probably null Het
Capn3 T A 2: 120,326,518 (GRCm39) I570N probably damaging Het
Catsperg2 T C 7: 29,418,990 (GRCm39) H232R possibly damaging Het
Clcn7 T C 17: 25,365,792 (GRCm39) L156P possibly damaging Het
Cpa3 C A 3: 20,276,376 (GRCm39) V286F probably benign Het
Csrnp3 G A 2: 65,853,153 (GRCm39) C527Y probably damaging Het
Dock5 A T 14: 68,065,887 (GRCm39) V372E probably benign Het
Fam91a1 T C 15: 58,303,045 (GRCm39) probably benign Het
Gm12695 T A 4: 96,650,988 (GRCm39) D155V probably null Het
Hspa4l A G 3: 40,736,055 (GRCm39) I559V probably benign Het
Kdm1a G T 4: 136,278,348 (GRCm39) probably benign Het
Lrrc8d A T 5: 105,974,683 (GRCm39) noncoding transcript Het
Minpp1 A T 19: 32,475,815 (GRCm39) Y316F possibly damaging Het
Neto2 T C 8: 86,390,064 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,500,610 (GRCm39) D277E probably benign Het
Ola1 A G 2: 72,972,644 (GRCm39) probably benign Het
Or4k48 A G 2: 111,475,850 (GRCm39) V164A probably benign Het
Or51r1 T C 7: 102,228,602 (GRCm39) I300T probably damaging Het
Or8c15 T A 9: 38,120,532 (GRCm39) M61K probably damaging Het
Pam A G 1: 97,768,064 (GRCm39) V722A possibly damaging Het
Pfdn6 T C 17: 34,158,077 (GRCm39) Y90C probably benign Het
Pkhd1 T A 1: 20,621,126 (GRCm39) H844L possibly damaging Het
Plk5 G A 10: 80,198,896 (GRCm39) V422M probably damaging Het
Psmc1 G T 12: 100,085,386 (GRCm39) R249L probably damaging Het
Ptpro C T 6: 137,357,316 (GRCm39) P269L probably benign Het
Ralgapa1 G T 12: 55,759,450 (GRCm39) H1480Q possibly damaging Het
Rars1 G A 11: 35,715,353 (GRCm39) probably benign Het
Rbm48 G A 5: 3,640,600 (GRCm39) R260C possibly damaging Het
Smarcc1 C T 9: 110,051,068 (GRCm39) H963Y possibly damaging Het
Spef2 T C 15: 9,725,238 (GRCm39) E230G probably damaging Het
Spg11 A G 2: 121,922,741 (GRCm39) S903P probably benign Het
Tas2r122 T C 6: 132,688,572 (GRCm39) Y107C probably damaging Het
Tpm3 C A 3: 89,995,753 (GRCm39) N204K probably benign Het
Wdr36 T C 18: 32,985,044 (GRCm39) I450T possibly damaging Het
Other mutations in Elmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00548:Elmo1 APN 13 20,445,749 (GRCm39) missense probably benign
IGL00814:Elmo1 APN 13 20,470,894 (GRCm39) missense probably damaging 0.97
IGL00849:Elmo1 APN 13 20,766,493 (GRCm39) nonsense probably null
IGL01417:Elmo1 APN 13 20,435,345 (GRCm39) critical splice donor site probably null
IGL01994:Elmo1 APN 13 20,526,634 (GRCm39) missense probably damaging 0.99
IGL02435:Elmo1 APN 13 20,773,826 (GRCm39) missense probably damaging 1.00
IGL02716:Elmo1 APN 13 20,633,672 (GRCm39) missense probably damaging 0.98
IGL03389:Elmo1 APN 13 20,526,596 (GRCm39) missense probably damaging 0.98
braveheart UTSW 13 20,458,791 (GRCm39) critical splice donor site probably benign
Debil UTSW 13 20,557,331 (GRCm39) missense probably damaging 1.00
Dollie UTSW 13 20,756,616 (GRCm39) missense possibly damaging 0.91
Edinburg UTSW 13 20,474,553 (GRCm39) nonsense probably null
glasgow UTSW 13 20,773,812 (GRCm39) critical splice acceptor site probably null
Golly UTSW 13 20,557,286 (GRCm39) missense possibly damaging 0.96
Lockerbie UTSW 13 20,784,371 (GRCm39) missense probably damaging 1.00
sesame UTSW 13 20,784,382 (GRCm39) nonsense probably null
Tickle UTSW 13 20,464,973 (GRCm39) splice site probably null
Wilmut UTSW 13 20,766,438 (GRCm39) nonsense probably null
Writhe UTSW 13 20,784,429 (GRCm39) critical splice donor site probably null
H8562:Elmo1 UTSW 13 20,465,033 (GRCm39) missense probably damaging 1.00
R0360:Elmo1 UTSW 13 20,748,663 (GRCm39) nonsense probably null
R0364:Elmo1 UTSW 13 20,748,663 (GRCm39) nonsense probably null
R0372:Elmo1 UTSW 13 20,756,629 (GRCm39) critical splice donor site probably null
R0975:Elmo1 UTSW 13 20,435,307 (GRCm39) missense probably damaging 0.98
R1167:Elmo1 UTSW 13 20,369,625 (GRCm39) missense probably damaging 1.00
R1511:Elmo1 UTSW 13 20,474,647 (GRCm39) missense possibly damaging 0.60
R1671:Elmo1 UTSW 13 20,472,054 (GRCm39) splice site probably benign
R1677:Elmo1 UTSW 13 20,773,841 (GRCm39) missense probably benign 0.22
R1868:Elmo1 UTSW 13 20,773,823 (GRCm39) missense possibly damaging 0.78
R2941:Elmo1 UTSW 13 20,784,382 (GRCm39) nonsense probably null
R3508:Elmo1 UTSW 13 20,789,402 (GRCm39) missense probably damaging 1.00
R4344:Elmo1 UTSW 13 20,445,722 (GRCm39) splice site probably null
R4378:Elmo1 UTSW 13 20,557,286 (GRCm39) missense possibly damaging 0.96
R4423:Elmo1 UTSW 13 20,784,382 (GRCm39) nonsense probably null
R4425:Elmo1 UTSW 13 20,784,382 (GRCm39) nonsense probably null
R4516:Elmo1 UTSW 13 20,467,084 (GRCm39) missense probably benign 0.11
R4862:Elmo1 UTSW 13 20,633,682 (GRCm39) missense probably benign
R4990:Elmo1 UTSW 13 20,526,689 (GRCm39) missense probably damaging 1.00
R4991:Elmo1 UTSW 13 20,526,689 (GRCm39) missense probably damaging 1.00
R4992:Elmo1 UTSW 13 20,526,689 (GRCm39) missense probably damaging 1.00
R5197:Elmo1 UTSW 13 20,748,607 (GRCm39) missense probably benign 0.20
R5269:Elmo1 UTSW 13 20,633,656 (GRCm39) missense probably benign 0.00
R5386:Elmo1 UTSW 13 20,784,380 (GRCm39) missense probably benign 0.01
R5471:Elmo1 UTSW 13 20,756,555 (GRCm39) missense probably benign 0.01
R5922:Elmo1 UTSW 13 20,789,339 (GRCm39) missense probably damaging 1.00
R5947:Elmo1 UTSW 13 20,474,553 (GRCm39) nonsense probably null
R6512:Elmo1 UTSW 13 20,557,331 (GRCm39) missense probably damaging 1.00
R6531:Elmo1 UTSW 13 20,756,616 (GRCm39) missense possibly damaging 0.91
R7338:Elmo1 UTSW 13 20,464,982 (GRCm39) missense probably benign 0.37
R7378:Elmo1 UTSW 13 20,465,105 (GRCm39) missense probably benign 0.00
R7477:Elmo1 UTSW 13 20,469,489 (GRCm39) missense
R7593:Elmo1 UTSW 13 20,474,610 (GRCm39) missense probably benign
R7721:Elmo1 UTSW 13 20,464,973 (GRCm39) splice site probably null
R7778:Elmo1 UTSW 13 20,773,812 (GRCm39) critical splice acceptor site probably null
R8001:Elmo1 UTSW 13 20,470,902 (GRCm39) missense probably benign 0.05
R8133:Elmo1 UTSW 13 20,557,256 (GRCm39) missense probably damaging 1.00
R8248:Elmo1 UTSW 13 20,784,371 (GRCm39) missense probably damaging 1.00
R8685:Elmo1 UTSW 13 20,474,594 (GRCm39) missense possibly damaging 0.61
R8713:Elmo1 UTSW 13 20,458,791 (GRCm39) critical splice donor site probably benign
R8888:Elmo1 UTSW 13 20,748,630 (GRCm39) missense probably damaging 1.00
R8895:Elmo1 UTSW 13 20,748,630 (GRCm39) missense probably damaging 1.00
R8945:Elmo1 UTSW 13 20,766,438 (GRCm39) nonsense probably null
R9292:Elmo1 UTSW 13 20,784,429 (GRCm39) critical splice donor site probably null
R9389:Elmo1 UTSW 13 20,369,661 (GRCm39) missense probably benign 0.01
R9417:Elmo1 UTSW 13 20,756,573 (GRCm39) missense possibly damaging 0.57
R9472:Elmo1 UTSW 13 20,470,897 (GRCm39) missense probably benign 0.31
R9622:Elmo1 UTSW 13 20,392,310 (GRCm39) missense probably benign 0.01
R9661:Elmo1 UTSW 13 20,469,531 (GRCm39) critical splice donor site probably null
RF008:Elmo1 UTSW 13 20,458,706 (GRCm39) missense probably benign 0.32
Posted On 2015-04-16