Incidental Mutation 'R2344:Elmo3'
ID 245924
Institutional Source Beutler Lab
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 # R2344 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106032240-106036625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106035793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 558 (Y558H)
Ref Sequence ENSEMBL: ENSMUSP00000148820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000070508] [ENSMUST00000109375] [ENSMUST00000209964] [ENSMUST00000212033] [ENSMUST00000210412] [ENSMUST00000211199] [ENSMUST00000212046] [ENSMUST00000210801]
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 probably benign
Transcript: ENSMUST00000070508
SMART Domains Protein: ENSMUSP00000063248
Gene: ENSMUSG00000041679

DomainStartEndE-ValueType
LRR 42 67 7.15e-2 SMART
LRR 68 93 1.92e-2 SMART
LRR 94 119 1.23e0 SMART
LRR 120 145 1.56e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093622
Predicted Effect probably damaging
Transcript: ENSMUST00000109375
AA Change: Y575H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791
AA Change: Y575H

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: ENSMUST00000209964
Predicted Effect probably damaging
Transcript: ENSMUST00000212033
AA Change: Y558H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212572
Predicted Effect probably benign
Transcript: ENSMUST00000210412
Predicted Effect probably benign
Transcript: ENSMUST00000211199
Predicted Effect probably benign
Transcript: ENSMUST00000212046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212345
Predicted Effect probably benign
Transcript: ENSMUST00000210801
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.4%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b A G 13: 14,328,075 (GRCm39) Q247R probably benign Het
Bend7 A T 2: 4,793,345 (GRCm39) D383V probably damaging Het
Calm4 A G 13: 3,888,298 (GRCm39) K135E possibly damaging Het
Cdh23 T C 10: 60,152,503 (GRCm39) D2412G probably damaging Het
Col6a5 T C 9: 105,805,736 (GRCm39) T1057A unknown Het
Dpf3 T G 12: 83,397,594 (GRCm39) D90A probably damaging Het
Dtl A T 1: 191,280,490 (GRCm39) M348K probably benign Het
Epha3 C T 16: 63,472,746 (GRCm39) V79I possibly damaging Het
Ercc5 T C 1: 44,206,329 (GRCm39) M414T probably benign Het
Fam217a T C 13: 35,094,318 (GRCm39) I389M probably damaging Het
Fsip2 T C 2: 82,820,257 (GRCm39) F5330S possibly damaging Het
Grin2a T C 16: 9,481,099 (GRCm39) I533V probably benign Het
Gsdma2 T C 11: 98,546,417 (GRCm39) L167P probably damaging Het
Gys2 A T 6: 142,391,748 (GRCm39) F505I probably damaging Het
Il6 A T 5: 30,219,854 (GRCm39) M77L probably benign Het
Or6c76b A T 10: 129,692,410 (GRCm39) T8S probably benign Het
Pgm2l1 A G 7: 99,909,115 (GRCm39) I194V probably damaging Het
Rbpjl G T 2: 164,256,312 (GRCm39) V433L probably damaging Het
Rps10 C G 17: 27,853,081 (GRCm39) R96P possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Supt16 T C 14: 52,415,575 (GRCm39) T387A probably benign Het
Usf3 C T 16: 44,036,414 (GRCm39) T298M probably benign Het
Usp49 T C 17: 47,983,828 (GRCm39) F278L probably damaging Het
Zfp729b A G 13: 67,740,352 (GRCm39) C648R 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
IGL03126:Elmo3 APN 8 106,033,013 (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
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
Predicted Primers PCR Primer
(F):5'- CAGAGCTCATGGGCTTAATCCG -3'
(R):5'- TCCTTGCCCATTAGGAGTGC -3'

Sequencing Primer
(F):5'- CTCCGACTCTGTGAAGGAATG -3'
(R):5'- TGATGTCTGCCACAGGGAC -3'
Posted On 2014-10-30