Incidental Mutation 'R9389:Elmo1'
ID 710500
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9389 (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 G at 20369661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 22 (M22R)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519] [ENSMUST00000180626] [ENSMUST00000221067]
AlphaFold Q8BPU7
Predicted Effect probably benign
Transcript: ENSMUST00000072519
AA Change: M22R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: M22R

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 possibly damaging
Transcript: ENSMUST00000180626
AA Change: M22R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000221067
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,875,614 (GRCm39) V596I probably benign Het
Agtpbp1 A T 13: 59,613,884 (GRCm39) M1019K probably damaging Het
Arfgef3 A G 10: 18,479,271 (GRCm39) V1448A probably damaging Het
Baz1a T A 12: 54,963,608 (GRCm39) E828D probably damaging Het
Ces1f A T 8: 93,996,600 (GRCm39) probably null Het
Cfap53 T A 18: 74,432,414 (GRCm39) probably null Het
Col6a4 T C 9: 105,877,983 (GRCm39) Y1998C probably damaging Het
Col9a2 A G 4: 120,911,948 (GRCm39) T675A probably benign Het
Dusp6 G A 10: 99,099,839 (GRCm39) V96M possibly damaging Het
Fem1al A G 11: 29,775,107 (GRCm39) S117P probably damaging Het
Gm19965 A G 1: 116,749,566 (GRCm39) N416D Het
Gpr162 A G 6: 124,838,357 (GRCm39) Y98H probably damaging Het
Igfals G A 17: 25,100,600 (GRCm39) V564I probably benign Het
Il4 C T 11: 53,504,837 (GRCm39) R76H probably damaging Het
Itgb1 T A 8: 129,433,637 (GRCm39) N50K probably benign Het
Itpr3 A T 17: 27,314,899 (GRCm39) Y682F possibly damaging Het
Jak3 C T 8: 72,136,696 (GRCm39) P668S probably damaging Het
Malrd1 A T 2: 15,707,967 (GRCm39) N932I unknown Het
Mast4 C A 13: 103,470,438 (GRCm39) R88L probably benign Het
Mfsd11 T G 11: 116,764,161 (GRCm39) S381A probably benign Het
Mrm3 A G 11: 76,140,856 (GRCm39) D288G probably damaging Het
Myg1 G T 15: 102,245,372 (GRCm39) V198F probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Npy6r T C 18: 44,408,759 (GRCm39) I60T probably damaging Het
Or12j3 T C 7: 139,952,930 (GRCm39) T198A probably benign Het
Or13p3 A T 4: 118,567,353 (GRCm39) M250L probably benign Het
Or4f57 G T 2: 111,790,872 (GRCm39) P182H probably damaging Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Or5k14 C T 16: 58,692,976 (GRCm39) C179Y probably damaging Het
Or6c215 G A 10: 129,637,540 (GRCm39) P285S probably damaging Het
Ovgp1 CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA 3: 105,893,841 (GRCm39) probably benign Het
Oxtr C A 6: 112,466,310 (GRCm39) R150L probably damaging Het
Pappa A T 4: 65,099,125 (GRCm39) Y548F probably damaging Het
Pip4k2a T C 2: 18,912,890 (GRCm39) K73R probably damaging Het
Pla2g4f T A 2: 120,132,781 (GRCm39) D685V probably damaging Het
Ppp1r35 T A 5: 137,777,577 (GRCm39) L81Q probably damaging Het
Prss3b C T 6: 41,010,079 (GRCm39) G85D probably benign Het
Ptprf C A 4: 118,093,236 (GRCm39) A469S probably benign Het
Ranbp3l T A 15: 9,057,304 (GRCm39) N322K probably damaging Het
Rev3l T A 10: 39,698,967 (GRCm39) Y1155N possibly damaging Het
Rfesd T C 13: 76,151,131 (GRCm39) Y96C probably damaging Het
Runx1 C T 16: 92,410,568 (GRCm39) V283I possibly damaging Het
Sema5b A C 16: 35,466,092 (GRCm39) Q125P probably damaging Het
Skic3 A G 13: 76,275,158 (GRCm39) D403G probably benign Het
Spef2 A T 15: 9,725,307 (GRCm39) M150K probably damaging Het
Srcap T G 7: 127,141,455 (GRCm39) L1745W probably damaging Het
Srgap2 A G 1: 131,283,365 (GRCm39) Y239H probably damaging Het
Svil T A 18: 5,090,811 (GRCm39) H1304Q possibly damaging Het
Syne1 T C 10: 5,179,193 (GRCm39) D4427G possibly damaging Het
Tg T A 15: 66,561,173 (GRCm39) M1065K probably benign Het
Tgm2 T C 2: 157,959,816 (GRCm39) T656A probably benign Het
Ubr4 A G 4: 139,153,235 (GRCm39) K809E Het
Vmn1r88 T C 7: 12,912,546 (GRCm39) S301P probably damaging Het
Wdr27 A G 17: 15,111,980 (GRCm39) V671A possibly damaging Het
Zbtb17 G A 4: 141,193,131 (GRCm39) V550I possibly damaging Het
Zeb2 A T 2: 44,887,920 (GRCm39) I379N probably 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
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
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
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'- TTGCATCTGCGCTGAACTAC -3'
(R):5'- CCCAGTATTGACAGAATCCAGC -3'

Sequencing Primer
(F):5'- ATCTGCGCTGAACTACTTTCTTTTTG -3'
(R):5'- CCAGTATTGACAGAATCCAGCAGATG -3'
Posted On 2022-04-18