Incidental Mutation 'R5269:Elmo1'
ID 400103
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 042834-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5269 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 20274766-20792523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20633656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 439 (N439K)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect probably benign
Transcript: ENSMUST00000072519
AA Change: N439K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: N439K

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: ENSMUST00000221484
Meta Mutation Damage Score 0.1048 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (71/71)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,595,717 (GRCm39) S357P possibly damaging Het
Adam39 A G 8: 41,279,018 (GRCm39) I470V probably benign Het
Agrn A T 4: 156,253,447 (GRCm39) C1708S probably benign Het
Agtpbp1 A G 13: 59,621,557 (GRCm39) I42T probably damaging Het
Akap6 T C 12: 53,186,626 (GRCm39) C1347R probably damaging Het
Antxr1 A G 6: 87,157,165 (GRCm39) L452P probably damaging Het
Arhgef33 T A 17: 80,677,704 (GRCm39) V417D probably damaging Het
Brca2 A G 5: 150,462,688 (GRCm39) I817M possibly damaging Het
Casp4 A T 9: 5,321,521 (GRCm39) probably benign Het
Cdh20 T C 1: 104,861,882 (GRCm39) Y21H possibly damaging Het
Cdr2 C T 7: 120,557,557 (GRCm39) V323M possibly damaging Het
Cebpa G A 7: 34,819,283 (GRCm39) R147H probably benign Het
Cetn4 C A 3: 37,364,118 (GRCm39) E31* probably null Het
Cobll1 G A 2: 64,964,115 (GRCm39) Q189* probably null Het
Colec12 A G 18: 9,846,825 (GRCm39) T74A possibly damaging Het
Crisp4 A G 1: 18,198,934 (GRCm39) S124P probably damaging Het
Eddm3b T A 14: 51,354,178 (GRCm39) D55E probably damaging Het
Fabp12 T C 3: 10,315,167 (GRCm39) N60S probably benign Het
Fat2 T A 11: 55,178,704 (GRCm39) H1452L probably benign Het
Flacc1 A G 1: 58,730,919 (GRCm39) S46P possibly damaging Het
Flrt2 T C 12: 95,746,712 (GRCm39) V350A possibly damaging Het
Ganab T C 19: 8,889,301 (GRCm39) F626S probably damaging Het
Ghr T C 15: 3,349,561 (GRCm39) Y539C probably benign Het
Gm6871 T C 7: 41,197,525 (GRCm39) T112A probably damaging Het
Gm7133 T A 1: 97,110,848 (GRCm39) noncoding transcript Het
Gon4l A C 3: 88,802,835 (GRCm39) I1149L probably benign Het
Greb1l G A 18: 10,511,409 (GRCm39) D45N probably benign Het
H2-K2 A G 17: 34,215,989 (GRCm39) probably benign Het
Herc2 C T 7: 55,818,618 (GRCm39) R2770* probably null Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itsn2 A G 12: 4,683,553 (GRCm39) probably benign Het
Klb A G 5: 65,506,140 (GRCm39) D129G probably damaging Het
Klf1 A G 8: 85,629,969 (GRCm39) I265V probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Map3k10 T C 7: 27,357,957 (GRCm39) E607G probably benign Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mroh6 A G 15: 75,757,639 (GRCm39) L457P probably damaging Het
Mrpl21 T A 19: 3,337,012 (GRCm39) C128S probably damaging Het
Or51f23 T C 7: 102,453,327 (GRCm39) V214A probably benign Het
Paqr4 G T 17: 23,957,187 (GRCm39) H105Q probably damaging Het
Pcdhga10 A G 18: 37,881,747 (GRCm39) I503V probably benign Het
Pds5a T C 5: 65,821,271 (GRCm39) N151S probably damaging Het
Pif1 A G 9: 65,499,111 (GRCm39) T444A possibly damaging Het
Ppp2r3d T C 9: 101,031,064 (GRCm39) R851G probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Ros1 T G 10: 51,927,104 (GRCm39) Q2172P probably damaging Het
Rpe65 A G 3: 159,309,984 (GRCm39) T86A probably benign Het
Rpl18a G A 8: 71,348,932 (GRCm39) R15C possibly damaging Het
Sh3tc2 A G 18: 62,108,684 (GRCm39) K258R probably benign Het
Ska3 T A 14: 58,059,573 (GRCm39) E84V possibly damaging Het
Slc25a40 T A 5: 8,497,409 (GRCm39) probably null Het
Slf1 A T 13: 77,252,700 (GRCm39) S274T probably benign Het
Spata21 A T 4: 140,830,332 (GRCm39) Q267H probably damaging Het
Strbp A T 2: 37,517,455 (GRCm39) W207R possibly damaging Het
Taf6l T C 19: 8,752,326 (GRCm39) E454G probably damaging Het
Tcam1 C A 11: 106,176,353 (GRCm39) L360I probably benign Het
Tnxb G A 17: 34,922,582 (GRCm39) R2465H possibly damaging Het
Trim66 T A 7: 109,056,797 (GRCm39) Y1120F probably benign Het
Trp53 T A 11: 69,480,031 (GRCm39) M243K probably damaging Het
Ttl T A 2: 128,910,831 (GRCm39) C72S probably damaging Het
Ttn A G 2: 76,539,240 (GRCm39) V34582A probably benign Het
Uqcrh T C 4: 115,927,101 (GRCm39) T31A possibly damaging Het
Usp40 A G 1: 87,923,504 (GRCm39) C256R probably benign Het
Vmn1r168 A G 7: 23,240,839 (GRCm39) E232G probably benign Het
Wdr72 A T 9: 74,064,653 (GRCm39) I562F probably damaging Het
Wnt4 A G 4: 137,005,061 (GRCm39) N24S 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
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'- GCCTGATCCTCTGACCTTAAG -3'
(R):5'- CTATGCACAGCTGAGGGAAC -3'

Sequencing Primer
(F):5'- GATCCTCTGACCTTAAGCTTTTAAG -3'
(R):5'- CATAGTATACCACATCTGAGGCGTG -3'
Posted On 2016-07-06