Incidental Mutation 'R4423:Elmo1'
ID 327228
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 041143-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4423 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to G at 20784382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 646 (Y646*)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect probably null
Transcript: ENSMUST00000072519
AA Change: Y646*
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: Y646*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C A 10: 100,441,495 (GRCm39) P100Q probably damaging Het
A630010A05Rik A G 16: 14,436,577 (GRCm39) Y210C probably benign Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
Asgr2 G A 11: 69,996,211 (GRCm39) V218I probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfap144 A T 11: 58,687,357 (GRCm39) probably null Het
Cnot10 T A 9: 114,446,988 (GRCm39) I363F probably damaging Het
Coch T A 12: 51,644,932 (GRCm39) probably null Het
Dnah1 C T 14: 31,006,718 (GRCm39) G2199D probably benign Het
Dock9 A G 14: 121,799,465 (GRCm39) probably null Het
Dst T C 1: 34,227,474 (GRCm39) I1689T possibly damaging Het
Eif2ak4 T C 2: 118,269,547 (GRCm39) F762S probably benign Het
Eif2b5 A G 16: 20,320,469 (GRCm39) D195G probably benign Het
Far1 T A 7: 113,139,805 (GRCm39) S84R probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Galnt15 A T 14: 31,780,226 (GRCm39) I508F possibly damaging Het
Grik1 T C 16: 87,720,088 (GRCm39) T745A probably benign Het
Hira A G 16: 18,774,952 (GRCm39) D959G possibly damaging Het
Hsf5 T C 11: 87,522,460 (GRCm39) L351P probably damaging Het
Icosl C T 10: 77,907,707 (GRCm39) T89I possibly damaging Het
Iws1 T A 18: 32,216,503 (GRCm39) N414K probably damaging Het
Kif1b A G 4: 149,298,562 (GRCm39) S1035P probably damaging Het
Lcp2 G T 11: 34,028,226 (GRCm39) probably benign Het
Map4 C T 9: 109,896,662 (GRCm39) T631I probably damaging Het
Nepn T A 10: 52,267,911 (GRCm39) I59N probably damaging Het
Nin T A 12: 70,089,752 (GRCm39) K1221M probably damaging Het
Nup155 A G 15: 8,150,948 (GRCm39) T333A probably damaging Het
Or10d4c A G 9: 39,558,412 (GRCm39) Y130C probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Or8b43 A G 9: 38,360,662 (GRCm39) T165A probably benign Het
Plod2 T C 9: 92,484,042 (GRCm39) L502S probably benign Het
Pnpt1 A G 11: 29,103,375 (GRCm39) probably null Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkcq T C 2: 11,260,980 (GRCm39) I344T possibly damaging Het
Rbl1 A G 2: 157,010,875 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sec62 T C 3: 30,868,431 (GRCm39) M220T unknown Het
Shprh T G 10: 11,062,262 (GRCm39) V1219G possibly damaging Het
Slc25a46 T C 18: 31,742,651 (GRCm39) T72A probably benign Het
Slc4a2 G A 5: 24,644,846 (GRCm39) W1040* probably null Het
Slc5a1 T C 5: 33,312,018 (GRCm39) V470A possibly damaging Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Trpm2 T C 10: 77,770,902 (GRCm39) D678G probably benign Het
Tut7 T C 13: 59,969,863 (GRCm39) K11E probably damaging Het
Ube3a T C 7: 58,925,861 (GRCm39) I234T probably benign Het
Vmn2r57 T C 7: 41,076,064 (GRCm39) K483E probably damaging Het
Wnk1 T A 6: 119,903,387 (GRCm39) S2111C 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
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
Predicted Primers PCR Primer
(F):5'- TGAAAGTGAGATGGCTCGTGC -3'
(R):5'- GGTGGTTTCCATGTCAACAAG -3'

Sequencing Primer
(F):5'- AGGCCTGTGCTGAATGC -3'
(R):5'- GTCAACAAGACACCCTTCTATTCATG -3'
Posted On 2015-07-07