Incidental Mutation 'R3944:Elmo3'
ID 307597
Institutional Source Beutler Lab
Gene Symbol Elmo3
Ensembl Gene ENSMUSG00000014791
Gene Name engulfment and cell motility 3
Synonyms CED-12
MMRRC Submission 040925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3944 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106032240-106036625 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 106035852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000070508] [ENSMUST00000109375] [ENSMUST00000209964] [ENSMUST00000210412] [ENSMUST00000212033] [ENSMUST00000212033] [ENSMUST00000212046] [ENSMUST00000210801] [ENSMUST00000211199]
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 null
Transcript: ENSMUST00000109375
SMART Domains Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791

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 benign
Transcript: ENSMUST00000210412
Predicted Effect probably null
Transcript: ENSMUST00000212033
Predicted Effect probably null
Transcript: ENSMUST00000212033
Predicted Effect probably benign
Transcript: ENSMUST00000212046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212345
Predicted Effect probably benign
Transcript: ENSMUST00000210801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212572
Predicted Effect probably benign
Transcript: ENSMUST00000211199
Meta Mutation Damage Score 0.9485 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
6430548M08Rik T C 8: 120,879,241 (GRCm39) L213P probably damaging Het
Akap12 A G 10: 4,307,347 (GRCm39) K1491E probably benign Het
Akr1c12 T A 13: 4,329,339 (GRCm39) H6L probably benign Het
Ankrd50 C T 3: 38,506,645 (GRCm39) C251Y probably benign Het
Bltp1 A G 3: 37,084,210 (GRCm39) I3876V possibly damaging Het
Bltp2 T A 11: 78,160,350 (GRCm39) L603* probably null Het
Calu T C 6: 29,361,710 (GRCm39) S125P possibly damaging Het
Cdh10 A G 15: 18,964,335 (GRCm39) T166A probably benign Het
Clip1 T C 5: 123,755,892 (GRCm39) probably benign Het
Cntn4 T G 6: 106,595,375 (GRCm39) N497K probably benign Het
Cspg4 T A 9: 56,793,407 (GRCm39) C381S probably damaging Het
Cyp1a2 T C 9: 57,589,151 (GRCm39) N221S probably benign Het
Dnaaf5 C T 5: 139,138,679 (GRCm39) probably benign Het
Dnah7b A G 1: 46,176,645 (GRCm39) D755G probably damaging Het
Dscam A T 16: 96,622,197 (GRCm39) V418E probably damaging Het
Eefsec T A 6: 88,275,076 (GRCm39) H296L probably benign Het
Gcm1 C T 9: 77,967,098 (GRCm39) Q106* probably null Het
Gnl1 G T 17: 36,299,413 (GRCm39) G528V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
H2-T23 A G 17: 36,341,535 (GRCm39) V312A probably benign Het
Hectd4 C A 5: 121,441,588 (GRCm39) probably benign Het
Hoxa7 T A 6: 52,193,606 (GRCm39) probably benign Het
Ifnlr1 T A 4: 135,428,539 (GRCm39) V122E probably damaging Het
Kcnt2 T C 1: 140,512,025 (GRCm39) M1036T probably damaging Het
Khdc1b G T 1: 21,455,030 (GRCm39) K96N probably damaging Het
Kif19a A T 11: 114,677,561 (GRCm39) Y578F probably benign Het
Krt4 G A 15: 101,829,685 (GRCm39) T281M probably benign Het
Lyl1 A C 8: 85,430,631 (GRCm39) T178P probably damaging Het
Marchf6 A G 15: 31,488,960 (GRCm39) V317A probably benign Het
Mmp1b G A 9: 7,384,708 (GRCm39) T280I possibly damaging Het
Mpi T C 9: 57,452,536 (GRCm39) D332G probably damaging Het
Naip6 T C 13: 100,431,247 (GRCm39) T1197A probably benign Het
Ntng2 G A 2: 29,094,289 (GRCm39) L361F probably benign Het
Obscn A T 11: 59,023,373 (GRCm39) I668N probably damaging Het
Or52x1 A T 7: 104,853,162 (GRCm39) C129* probably null Het
Or8k40 A G 2: 86,584,525 (GRCm39) S186P probably benign Het
Pabpc1l A G 2: 163,884,247 (GRCm39) E328G probably damaging Het
Pan3 A T 5: 147,387,540 (GRCm39) N170Y probably damaging Het
Prdm2 C T 4: 142,858,385 (GRCm39) R1635Q possibly damaging Het
Rassf6 G T 5: 90,752,185 (GRCm39) Q258K possibly damaging Het
Ribc2 A G 15: 85,019,451 (GRCm39) M78V probably benign Het
Rp9 A C 9: 22,361,154 (GRCm39) H44Q probably damaging Het
Skint5 T A 4: 113,799,950 (GRCm39) H73L probably damaging Het
Slc6a12 A T 6: 121,331,239 (GRCm39) probably null Het
Smg6 G A 11: 74,820,367 (GRCm39) G213R probably damaging Het
Spout1 A G 2: 30,064,148 (GRCm39) V372A probably benign Het
Svep1 T A 4: 58,084,807 (GRCm39) probably null Het
Tab1 T C 15: 80,037,941 (GRCm39) L258P probably damaging Het
Tbl3 A G 17: 24,919,682 (GRCm39) S791P possibly damaging Het
Tcof1 C A 18: 60,955,909 (GRCm39) D927Y probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Topaz1 T C 9: 122,579,669 (GRCm39) S860P possibly damaging Het
Vill T C 9: 118,897,499 (GRCm39) I258T probably benign Het
Vmn1r204 G A 13: 22,741,014 (GRCm39) R215H probably benign Het
Vmn2r106 A T 17: 20,487,913 (GRCm39) F829I probably damaging Het
Vmn2r14 A T 5: 109,363,930 (GRCm39) I662N probably damaging Het
Vmn2r58 A T 7: 41,513,885 (GRCm39) F253I probably benign Het
Vps8 A T 16: 21,288,873 (GRCm39) N411Y probably damaging Het
Zfp932 T A 5: 110,157,820 (GRCm39) V506E probably benign 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
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
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'- GACGACAGGGTCTCTGAATG -3'
(R):5'- TGACCCTACTGCAGTCACCTTG -3'

Sequencing Primer
(F):5'- ACAGGGTCTCTGAATGGGCTG -3'
(R):5'- ACTGCAGTCACCTTGTTCTG -3'
Posted On 2015-04-17