Incidental Mutation 'IGL03126:Elmo3'
ID 410141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmo3
Ensembl Gene ENSMUSG00000014791
Gene Name engulfment and cell motility 3
Synonyms CED-12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03126
Quality Score
Status
Chromosome 8
Chromosomal Location 106032240-106036625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106033013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 66 (R66S)
Ref Sequence ENSEMBL: ENSMUSP00000105000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000109375] [ENSMUST00000212033] [ENSMUST00000212046]
AlphaFold Q8BYZ7
Predicted Effect probably benign
Transcript: ENSMUST00000015003
SMART Domains Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
E2F_TDP 17 83 3.56e-31 SMART
Pfam:E2F_CC-MB 100 196 2.8e-36 PFAM
low complexity region 201 252 N/A INTRINSIC
low complexity region 360 372 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093622
Predicted Effect probably damaging
Transcript: ENSMUST00000109375
AA Change: R66S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791
AA Change: R66S

DomainStartEndE-ValueType
Pfam:DUF3361 115 268 3.8e-55 PFAM
Pfam:ELMO_CED12 291 468 1.1e-42 PFAM
PH 542 665 2.17e0 SMART
low complexity region 694 706 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184892
Predicted Effect probably benign
Transcript: ENSMUST00000212033
Predicted Effect probably benign
Transcript: ENSMUST00000212046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212572
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,617,563 (GRCm39) N562S probably benign Het
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acsm1 A T 7: 119,232,403 (GRCm39) Q100L possibly damaging Het
Akr1c21 T C 13: 4,627,457 (GRCm39) Y184H possibly damaging Het
Anks3 T C 16: 4,775,891 (GRCm39) T104A probably damaging Het
Bcl2l2 A G 14: 55,122,224 (GRCm39) Y129C probably damaging Het
Cenpf T A 1: 189,391,207 (GRCm39) K875I probably damaging Het
Cntnap1 T C 11: 101,067,127 (GRCm39) V15A probably benign Het
Dnaaf9 A T 2: 130,633,915 (GRCm39) probably null Het
Elp1 A G 4: 56,779,717 (GRCm39) S565P probably benign Het
Epn1 C A 7: 5,098,684 (GRCm39) A370E probably benign Het
Esrrg T C 1: 187,730,184 (GRCm39) probably benign Het
Fgd5 T G 6: 92,042,145 (GRCm39) L1034R probably damaging Het
Fpgs A G 2: 32,573,135 (GRCm39) V567A possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
H3c3 T C 13: 23,929,425 (GRCm39) K19R possibly damaging Het
Hsd17b14 T C 7: 45,205,503 (GRCm39) F38S possibly damaging Het
Larp1 T C 11: 57,941,703 (GRCm39) V712A possibly damaging Het
Mep1b T C 18: 21,221,617 (GRCm39) F189S probably damaging Het
Mill1 T C 7: 17,989,832 (GRCm39) V38A probably benign Het
Niban2 C T 2: 32,766,398 (GRCm39) R13W possibly damaging Het
Npy4r T C 14: 33,868,290 (GRCm39) I333V probably benign Het
Numa1 G T 7: 101,649,874 (GRCm39) E1202* probably null Het
Or3a1b C T 11: 74,012,610 (GRCm39) A165V probably benign Het
Or6k6 A G 1: 173,945,276 (GRCm39) I102T probably benign Het
Oxr1 A T 15: 41,683,645 (GRCm39) Q356L possibly damaging Het
Prdx2 T C 8: 85,698,198 (GRCm39) F130L probably damaging Het
Rasa1 A T 13: 85,404,515 (GRCm39) S248R possibly damaging Het
Rgs19 A G 2: 181,333,114 (GRCm39) S49P probably benign Het
Rinl A G 7: 28,495,075 (GRCm39) probably benign Het
Serpinb11 T C 1: 107,307,654 (GRCm39) F362L probably damaging Het
Slamf8 T C 1: 172,411,736 (GRCm39) H253R possibly damaging Het
Tet3 C A 6: 83,353,769 (GRCm39) R829L probably damaging Het
Trappc8 A G 18: 20,996,652 (GRCm39) L420P probably damaging Het
Ube2u A T 4: 100,407,199 (GRCm39) *353Y probably null Het
Wbp1l A C 19: 46,632,838 (GRCm39) D46A probably damaging Het
Zbtb21 A G 16: 97,752,945 (GRCm39) V474A probably damaging Het
Other mutations in Elmo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02183:Elmo3 APN 8 106,034,955 (GRCm39) missense probably benign 0.22
IGL02580:Elmo3 APN 8 106,035,126 (GRCm39) missense probably damaging 1.00
IGL03349:Elmo3 APN 8 106,033,020 (GRCm39) missense possibly damaging 0.95
R0119:Elmo3 UTSW 8 106,036,400 (GRCm39) missense probably damaging 1.00
R0244:Elmo3 UTSW 8 106,035,803 (GRCm39) missense probably benign 0.03
R1572:Elmo3 UTSW 8 106,034,933 (GRCm39) missense probably benign 0.03
R1861:Elmo3 UTSW 8 106,035,213 (GRCm39) missense probably damaging 1.00
R2143:Elmo3 UTSW 8 106,035,305 (GRCm39) missense probably damaging 1.00
R2344:Elmo3 UTSW 8 106,035,793 (GRCm39) missense probably damaging 1.00
R2920:Elmo3 UTSW 8 106,034,691 (GRCm39) missense possibly damaging 0.61
R3687:Elmo3 UTSW 8 106,035,468 (GRCm39) critical splice donor site probably null
R3944:Elmo3 UTSW 8 106,035,852 (GRCm39) critical splice donor site probably null
R4992:Elmo3 UTSW 8 106,036,133 (GRCm39) nonsense probably null
R5255:Elmo3 UTSW 8 106,033,985 (GRCm39) missense probably benign 0.08
R5976:Elmo3 UTSW 8 106,034,279 (GRCm39) missense probably damaging 1.00
R6340:Elmo3 UTSW 8 106,033,379 (GRCm39) missense probably damaging 1.00
R6826:Elmo3 UTSW 8 106,033,378 (GRCm39) missense probably damaging 1.00
R7541:Elmo3 UTSW 8 106,033,346 (GRCm39) missense probably damaging 1.00
R7788:Elmo3 UTSW 8 106,034,876 (GRCm39) missense probably damaging 0.98
R7860:Elmo3 UTSW 8 106,035,649 (GRCm39) missense probably damaging 1.00
R8553:Elmo3 UTSW 8 106,033,810 (GRCm39) missense probably benign 0.02
R9586:Elmo3 UTSW 8 106,034,760 (GRCm39) missense probably damaging 1.00
V8831:Elmo3 UTSW 8 106,033,693 (GRCm39) missense probably benign 0.24
X0060:Elmo3 UTSW 8 106,032,645 (GRCm39) splice site probably null
Posted On 2016-08-02