Incidental Mutation 'R6531:Elmo1'
ID 522370
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 044657-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6531 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 20756616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 568 (R568L)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect possibly damaging
Transcript: ENSMUST00000072519
AA Change: R568L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: R568L

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 0.2344 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.6%
Validation Efficiency 100% (46/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,926,980 (GRCm39) E880G possibly damaging Het
Acsbg2 T A 17: 57,153,617 (GRCm39) I529F probably damaging Het
Ahcyl2 T G 6: 29,886,161 (GRCm39) M359R probably benign Het
Aldh5a1 G T 13: 25,102,547 (GRCm39) D305E probably benign Het
Catsper2 C G 2: 121,230,261 (GRCm39) V358L possibly damaging Het
Cd200r4 C T 16: 44,653,868 (GRCm39) Q222* probably null Het
Col4a2 T A 8: 11,458,135 (GRCm39) D270E probably benign Het
Cux1 T C 5: 136,303,973 (GRCm39) D1401G probably benign Het
Cyp3a59 T A 5: 146,035,027 (GRCm39) M235K probably benign Het
Dock3 T C 9: 106,844,415 (GRCm39) D895G probably benign Het
Dync1h1 T C 12: 110,584,354 (GRCm39) F586L probably damaging Het
Epb41 T C 4: 131,684,947 (GRCm39) T711A probably benign Het
Grm7 T A 6: 111,335,386 (GRCm39) M599K probably benign Het
Hivep3 A T 4: 119,980,073 (GRCm39) K1704* probably null Het
Ighv1-62-3 C A 12: 115,424,626 (GRCm39) C115F probably damaging Het
Krt78 A G 15: 101,860,708 (GRCm39) Y200H probably benign Het
Lamb2 A T 9: 108,360,925 (GRCm39) H549L possibly damaging Het
Mroh3 A G 1: 136,112,091 (GRCm39) I759T probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nol6 G T 4: 41,118,154 (GRCm39) P828T probably benign Het
Or1j15 G A 2: 36,459,353 (GRCm39) V248I probably damaging Het
Or4c3 A G 2: 89,851,801 (GRCm39) V203A probably benign Het
Or5m5 A G 2: 85,814,651 (GRCm39) I156V probably benign Het
Or8w1 A G 2: 87,465,873 (GRCm39) Y73H probably damaging Het
Ovgp1 A C 3: 105,894,387 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,962,313 (GRCm39) Q230L possibly damaging Het
Pkn1 C T 8: 84,396,922 (GRCm39) V910I probably benign Het
Plcb1 T A 2: 135,167,722 (GRCm39) probably null Het
Ppp1r12c A G 7: 4,485,788 (GRCm39) probably null Het
Rassf5 T A 1: 131,172,551 (GRCm39) Q106L possibly damaging Het
Rfc1 T C 5: 65,470,322 (GRCm39) K62E possibly damaging Het
Sf3b1 C T 1: 55,058,554 (GRCm39) E12K probably damaging Het
Slc4a1ap A T 5: 31,705,982 (GRCm39) D691V probably benign Het
Speg T A 1: 75,399,401 (GRCm39) F2283I probably benign Het
Styxl2 A T 1: 165,937,615 (GRCm39) probably null Het
Synj2 A G 17: 6,084,114 (GRCm39) K267E probably damaging Het
Tg A T 15: 66,711,211 (GRCm39) Y991F probably damaging Het
Tlk1 A T 2: 70,572,427 (GRCm39) D380E probably benign Het
Trim43b A T 9: 88,967,418 (GRCm39) L405H probably damaging Het
Ttf2 A G 3: 100,863,576 (GRCm39) I586T probably damaging Het
Ugt2b36 T A 5: 87,229,445 (GRCm39) R213S probably damaging Het
Vmn1r198 T A 13: 22,538,577 (GRCm39) M21K probably benign Het
Wdr35 A T 12: 9,028,685 (GRCm39) Y101F probably benign Het
Zfp367 T C 13: 64,292,064 (GRCm39) Y189C 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
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'- AAGAAGGCCGCTTATGCTCC -3'
(R):5'- AAGAACAGCCCTTTAGCTCC -3'

Sequencing Primer
(F):5'- ATGCTCCCTGCCCATCAG -3'
(R):5'- AACAGCCCTTTAGCTCCATGGATC -3'
Posted On 2018-06-06