Incidental Mutation 'R5471:Elmo1'
ID 433832
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 043032-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5471 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20756555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 548 (I548V)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect probably benign
Transcript: ENSMUST00000072519
AA Change: I548V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: I548V

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 noncoding transcript
Transcript: ENSMUST00000180767
Meta Mutation Damage Score 0.0887 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 96% (67/70)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 C T 7: 119,259,829 (GRCm39) H493Y probably damaging Het
Alox12e T C 11: 70,210,850 (GRCm39) I290V probably benign Het
Ankfy1 T A 11: 72,619,617 (GRCm39) N163K probably benign Het
Baiap2l1 T G 5: 144,218,951 (GRCm39) N219T probably benign Het
Cd72 T C 4: 43,448,345 (GRCm39) I312V probably benign Het
Cfap54 A T 10: 92,864,522 (GRCm39) M139K probably damaging Het
Clec4n T A 6: 123,209,145 (GRCm39) M70K probably benign Het
Cmklr2 A C 1: 63,223,058 (GRCm39) V59G probably damaging Het
Cwh43 T A 5: 73,565,574 (GRCm39) C46* probably null Het
Cyp1a2 A T 9: 57,586,303 (GRCm39) I405N probably damaging Het
Dlc1 G T 8: 37,051,879 (GRCm39) S617R probably benign Het
Eif2ak4 A G 2: 118,304,613 (GRCm39) N1546S probably benign Het
Exoc6 A G 19: 37,588,065 (GRCm39) D566G probably benign Het
Fam20b T C 1: 156,533,299 (GRCm39) T106A probably damaging Het
Fam83h T C 15: 75,874,752 (GRCm39) T862A probably benign Het
Fgfr1op2 A T 6: 146,498,860 (GRCm39) probably null Het
Gcnt2 A G 13: 41,014,195 (GRCm39) Y122C probably damaging Het
Gm11992 A T 11: 9,018,333 (GRCm39) probably null Het
Gm5114 C A 7: 39,058,534 (GRCm39) E362* probably null Het
Gm815 A G 19: 26,865,769 (GRCm39) T96A unknown Het
Gm8674 A G 13: 50,054,849 (GRCm39) noncoding transcript Het
Gnat3 T A 5: 18,196,322 (GRCm39) I56N probably damaging Het
Igkv1-133 T C 6: 67,702,531 (GRCm39) V83A probably benign Het
Mrgprb8 T A 7: 48,038,471 (GRCm39) N47K probably damaging Het
Nav2 A G 7: 49,197,917 (GRCm39) D1182G probably damaging Het
Neto2 T C 8: 86,367,389 (GRCm39) T480A probably benign Het
Npnt T G 3: 132,620,148 (GRCm39) N115T probably benign Het
Nr1h5 T C 3: 102,856,442 (GRCm39) N279S possibly damaging Het
Ntrk2 T C 13: 59,019,574 (GRCm39) V395A probably benign Het
Or2ak6 T C 11: 58,593,151 (GRCm39) L208S probably damaging Het
Or5ac23 T G 16: 59,148,994 (GRCm39) N293H probably damaging Het
Or6c1 A G 10: 129,517,925 (GRCm39) S228P probably damaging Het
Padi2 A G 4: 140,660,519 (GRCm39) K333R possibly damaging Het
Pira1 T A 7: 3,738,514 (GRCm39) I621F probably benign Het
Ptgis C A 2: 167,066,039 (GRCm39) M130I probably benign Het
Ptpn4 A T 1: 119,693,649 (GRCm39) Y124* probably null Het
Saal1 C T 7: 46,349,072 (GRCm39) V281M probably benign Het
Saxo1 G A 4: 86,363,961 (GRCm39) T174I probably damaging Het
Slc7a12 G A 3: 14,545,935 (GRCm39) V27M probably damaging Het
Slco4c1 C A 1: 96,799,770 (GRCm39) R22L probably benign Het
Slfn9 T G 11: 82,873,613 (GRCm39) Q430P possibly damaging Het
Slit2 T A 5: 48,346,897 (GRCm39) N246K probably damaging Het
Stox2 G T 8: 47,646,548 (GRCm39) T304K probably damaging Het
Tmem87b T G 2: 128,693,240 (GRCm39) F542V possibly damaging Het
Topaz1 T G 9: 122,620,481 (GRCm39) probably null Het
Trappc12 G A 12: 28,741,499 (GRCm39) R737W probably damaging Het
Trim9 A G 12: 70,393,566 (GRCm39) I126T possibly damaging Het
Txnl1 A G 18: 63,809,997 (GRCm39) C149R probably damaging Het
Ubald1 G A 16: 4,693,705 (GRCm39) T70M probably damaging Het
Vash1 G A 12: 86,735,902 (GRCm39) V263M possibly damaging Het
Vsx1 T C 2: 150,524,986 (GRCm39) T343A probably benign Het
Zfp397 A G 18: 24,093,081 (GRCm39) N189D 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
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
Predicted Primers PCR Primer
(F):5'- TTTCAACAGGAAACTCAGGCCTAG -3'
(R):5'- GCACAATGCTGTCCTTGAATG -3'

Sequencing Primer
(F):5'- GGAAACTCAGGCCTAGATTTTCC -3'
(R):5'- GCTGTCCTTGAATGACACTATG -3'
Posted On 2016-10-06