Incidental Mutation 'R4862:Elmo1'
ID 374605
Institutional Source Beutler Lab
Gene Symbol Elmo1
Ensembl Gene ENSMUSG00000041112
Gene Name engulfment and cell motility 1
Synonyms CED-12, C230095H21Rik, 6330578D22Rik
MMRRC Submission 043260-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4862 (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 20633682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 448 (H448R)
Ref Sequence ENSEMBL: ENSMUSP00000072334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072519]
AlphaFold Q8BPU7
Predicted Effect probably benign
Transcript: ENSMUST00000072519
AA Change: H448R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: H448R

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 0.2893 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 95% (40/42)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,747,083 (GRCm39) T167A probably benign Het
Aox1 T G 1: 58,134,316 (GRCm39) D1096E probably damaging Het
Arid4a A T 12: 71,122,721 (GRCm39) D1034V probably damaging Het
Ccdc168 G A 1: 44,097,178 (GRCm39) P1307S possibly damaging Het
Chaf1b T A 16: 93,684,022 (GRCm39) L91Q probably damaging Het
Copb2 G T 9: 98,463,320 (GRCm39) D512Y probably damaging Het
Daam1 A G 12: 71,988,981 (GRCm39) E127G unknown Het
Dhx16 A G 17: 36,194,154 (GRCm39) I422V probably benign Het
Dnah6 C T 6: 73,098,771 (GRCm39) V2043I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync2h1 A G 9: 7,147,717 (GRCm39) V971A probably benign Het
Elapor1 A G 3: 108,375,149 (GRCm39) S573P probably benign Het
Fndc1 A T 17: 7,988,567 (GRCm39) V1165D unknown Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Igkv6-13 C A 6: 70,434,765 (GRCm39) V27L probably benign Het
Krt28 A T 11: 99,255,936 (GRCm39) I441N possibly damaging Het
Lgr5 A T 10: 115,298,669 (GRCm39) D286E probably damaging Het
Mapkap1 A G 2: 34,513,442 (GRCm39) Y448C probably damaging Het
Or2f1 T C 6: 42,721,489 (GRCm39) Y173H possibly damaging Het
Or5t9 T A 2: 86,659,876 (GRCm39) V260E probably damaging Het
Ppt1 A C 4: 122,738,242 (GRCm39) N89T probably damaging Het
Prss3b T G 6: 41,009,345 (GRCm39) D163A possibly damaging Het
Ptgs1 G T 2: 36,127,267 (GRCm39) R51L probably damaging Het
Slc47a2 A G 11: 61,204,520 (GRCm39) F277S possibly damaging Het
Smcr8 A G 11: 60,668,897 (GRCm39) E15G probably benign Het
Tbce A G 13: 14,173,004 (GRCm39) S476P possibly damaging Het
Tmem131l A T 3: 83,805,517 (GRCm39) probably benign Het
Unc5c T C 3: 141,495,534 (GRCm39) Y468H probably damaging Het
Ush1c A T 7: 45,878,664 (GRCm39) L117H probably damaging Het
Wdfy4 A G 14: 32,822,860 (GRCm39) probably null Het
Zfa-ps G T 10: 52,419,192 (GRCm39) noncoding transcript Het
Zfat C A 15: 68,051,959 (GRCm39) A605S probably benign Het
Zfp853 T A 5: 143,275,416 (GRCm39) Q68L unknown Het
Zfyve16 G A 13: 92,644,764 (GRCm39) T1146I 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
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'- GGCCTGATCCTCTGACCTTAAG -3'
(R):5'- CTTCTATGCACAGCTGAGGG -3'

Sequencing Primer
(F):5'- GATCCTCTGACCTTAAGCTTTTAAG -3'
(R):5'- TGAGGGAACATAGTATACCACATCTG -3'
Posted On 2016-03-17