Incidental Mutation 'R6512:Elmo1'
ID 519960
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 045017-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6512 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20557331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 424 (L424P)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect probably damaging
Transcript: ENSMUST00000072519
AA Change: L424P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: L424P

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
Predicted Effect probably benign
Transcript: ENSMUST00000221595
Meta Mutation Damage Score 0.9397 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (39/39)
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
1700122O11Rik A G 17: 48,347,672 (GRCm39) S211P possibly damaging Het
Abcb11 T C 2: 69,112,996 (GRCm39) T674A probably benign Het
Acad11 G T 9: 103,972,758 (GRCm39) E484* probably null Het
Ankhd1 A T 18: 36,724,509 (GRCm39) D389V probably damaging Het
Asic4 T A 1: 75,449,687 (GRCm39) L439* probably null Het
Atp13a2 A G 4: 140,730,529 (GRCm39) T808A probably damaging Het
Capn13 C A 17: 73,689,985 (GRCm39) V9L probably benign Het
Chst11 A G 10: 83,027,302 (GRCm39) Y243C probably damaging Het
Ctdp1 A T 18: 80,494,478 (GRCm39) W308R probably damaging Het
Dnttip2 A G 3: 122,069,172 (GRCm39) E129G possibly damaging Het
Dock5 A G 14: 68,062,097 (GRCm39) S424P possibly damaging Het
Ebf1 C T 11: 44,883,168 (GRCm39) H469Y probably damaging Het
Efhc1 A T 1: 21,030,573 (GRCm39) N169Y probably damaging Het
Ighv1-59 A G 12: 115,299,003 (GRCm39) V16A probably damaging Het
Kcnc1 T G 7: 46,076,821 (GRCm39) C208G probably damaging Het
Kif13b A T 14: 64,982,323 (GRCm39) probably null Het
Lilra6 T A 7: 3,917,387 (GRCm39) N203Y probably benign Het
Mrtfa T C 15: 80,897,917 (GRCm39) T787A probably benign Het
Myh8 A T 11: 67,180,488 (GRCm39) K575* probably null Het
Nedd1 C T 10: 92,527,737 (GRCm39) A486T probably benign Het
Or2aj5 A T 16: 19,425,109 (GRCm39) L103H probably damaging Het
Phrf1 T C 7: 140,840,309 (GRCm39) I1168T possibly damaging Het
Pla2g12a T A 3: 129,682,606 (GRCm39) H59Q probably benign Het
Ralbp1 A G 17: 66,168,270 (GRCm39) V345A probably damaging Het
Ryr3 C T 2: 112,697,723 (GRCm39) V894M possibly damaging Het
Sec24b T A 3: 129,834,946 (GRCm39) Y84F probably damaging Het
Slc22a26 T C 19: 7,779,865 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Spats1 C T 17: 45,763,599 (GRCm39) probably null Het
Tbk1 T A 10: 121,414,526 (GRCm39) N63Y probably damaging Het
Tbl1xr1 C T 3: 22,194,698 (GRCm39) probably benign Het
Top2b T A 14: 16,409,854 (GRCm38) D840E possibly damaging Het
Trpc3 T A 3: 36,716,907 (GRCm39) Y377F possibly damaging Het
Uba6 C T 5: 86,272,262 (GRCm39) R778K probably benign Het
Vmn2r101 A T 17: 19,809,146 (GRCm39) I92F probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r70 G T 7: 85,215,305 (GRCm39) F76L probably benign Het
Vwa3b A G 1: 37,102,723 (GRCm39) probably benign Het
Zfp407 T A 18: 84,578,474 (GRCm39) T880S probably damaging Het
Zfp64 C A 2: 168,735,997 (GRCm39) G560V probably benign 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
IGL02605:Elmo1 APN 13 20,789,372 (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
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
Predicted Primers PCR Primer
(F):5'- ATCAAAGTCTGTGTTCTCTGTGTTC -3'
(R):5'- ATGTAGGAAACCCGAGCCAG -3'

Sequencing Primer
(F):5'- AGAGGCTGTCGTGATCCACTTTAC -3'
(R):5'- CCCGAGCCAGAGAAGGGAC -3'
Posted On 2018-06-06