Incidental Mutation 'IGL01694:Elmo2'
ID104212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmo2
Ensembl Gene ENSMUSG00000017670
Gene Nameengulfment and cell motility 2
SynonymsCED-12, 1190002F24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.431) question?
Stock #IGL01694
Quality Score
Status
Chromosome2
Chromosomal Location165288031-165326479 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 165314773 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 67 (N67K)
Ref Sequence ENSEMBL: ENSMUSP00000119682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071699] [ENSMUST00000074046] [ENSMUST00000094329] [ENSMUST00000103088] [ENSMUST00000103091] [ENSMUST00000126318] [ENSMUST00000128690] [ENSMUST00000133205]
Predicted Effect probably benign
Transcript: ENSMUST00000071699
AA Change: N67K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: N67K

DomainStartEndE-ValueType
Pfam:DUF3361 115 272 1.6e-61 PFAM
Pfam:ELMO_CED12 295 474 3.2e-39 PFAM
Pfam:PH_12 541 657 5.4e-33 PFAM
internal_repeat_1 670 688 6.69e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000074046
AA Change: N67K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: N67K

DomainStartEndE-ValueType
Pfam:DUF3361 114 285 2.7e-75 PFAM
Pfam:ELMO_CED12 304 487 3.7e-48 PFAM
PDB:3A98|D 535 729 3e-99 PDB
SCOP:d1mai__ 552 677 4e-33 SMART
Blast:PH 560 681 2e-82 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000094329
AA Change: N67K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: N67K

DomainStartEndE-ValueType
Pfam:DUF3361 114 273 5.6e-77 PFAM
Pfam:ELMO_CED12 292 475 3.6e-48 PFAM
PDB:3A98|D 523 717 2e-99 PDB
SCOP:d1mai__ 540 665 5e-33 SMART
Blast:PH 548 669 1e-82 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000103088
AA Change: N67K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: N67K

DomainStartEndE-ValueType
Pfam:DUF3361 114 273 6.6e-77 PFAM
Pfam:ELMO_CED12 292 475 4.3e-48 PFAM
internal_repeat_1 654 672 6.69e-7 PROSPERO
internal_repeat_1 670 688 6.69e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000103091
AA Change: N67K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: N67K

DomainStartEndE-ValueType
Pfam:DUF3361 114 273 5.6e-77 PFAM
Pfam:ELMO_CED12 292 475 3.6e-48 PFAM
PDB:3A98|D 523 717 2e-99 PDB
SCOP:d1mai__ 540 665 5e-33 SMART
Blast:PH 548 669 1e-82 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000126318
AA Change: M43K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127496
Predicted Effect probably benign
Transcript: ENSMUST00000128690
Predicted Effect probably benign
Transcript: ENSMUST00000133205
AA Change: N67K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000137188
SMART Domains Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

DomainStartEndE-ValueType
Pfam:DUF3361 17 172 1.6e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149844
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 interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 36,096,702 *219W probably null Het
Abi1 G A 2: 22,960,713 T238M probably damaging Het
Agbl2 C T 2: 90,801,074 L259F probably damaging Het
Cacna1g T A 11: 94,429,112 I1413F probably damaging Het
Ddx21 T A 10: 62,598,651 K110* probably null Het
Dnm1l A T 16: 16,316,651 I463N probably benign Het
Dst C A 1: 34,188,160 H1286Q probably benign Het
Eps8l3 G A 3: 107,892,308 C578Y probably damaging Het
Fam83b T A 9: 76,490,990 I944F probably benign Het
Itga10 A T 3: 96,652,517 D496V probably damaging Het
Lama2 T G 10: 27,006,742 K2608N possibly damaging Het
Lap3 T A 5: 45,498,595 probably null Het
Madd T C 2: 91,157,975 probably benign Het
Mdh1b T A 1: 63,711,106 probably benign Het
Ncapg2 G A 12: 116,407,230 probably benign Het
Olfr1509 A G 14: 52,450,584 N57S probably benign Het
Opalin A G 19: 41,063,800 probably benign Het
Plxna3 T A X: 74,338,508 D1291E probably damaging Het
Prss40 T A 1: 34,556,097 I101F probably benign Het
Rpl5 T C 5: 107,907,240 Y253H probably benign Het
Sephs2 A G 7: 127,273,087 I278T probably benign Het
Slc25a34 G A 4: 141,622,253 A197V probably benign Het
Slco6d1 C T 1: 98,499,845 R634W probably damaging Het
Smarca4 C A 9: 21,665,870 A871D probably damaging Het
Speer2 C T 16: 69,858,112 S155N probably damaging Het
Speer2 T A 16: 69,858,113 S155C probably damaging Het
Spink12 T A 18: 44,107,760 V71E probably damaging Het
Tecta T C 9: 42,367,179 D1011G possibly damaging Het
Tmtc4 G A 14: 122,973,212 T78I possibly damaging Het
Tub T C 7: 109,021,036 probably benign Het
Vps13c T A 9: 67,895,349 V644D probably damaging Het
Zfp7 C T 15: 76,890,795 Q346* probably null Het
Other mutations in Elmo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Elmo2 APN 2 165292014 unclassified probably benign
IGL01096:Elmo2 APN 2 165296987 unclassified probably benign
IGL02016:Elmo2 APN 2 165295012 critical splice donor site probably null
IGL02402:Elmo2 APN 2 165297392 missense probably damaging 0.97
IGL02808:Elmo2 APN 2 165291707 unclassified probably benign
IGL03030:Elmo2 APN 2 165294317 missense possibly damaging 0.93
IGL03117:Elmo2 APN 2 165298653 missense probably benign 0.01
R0046:Elmo2 UTSW 2 165298726 missense probably damaging 0.97
R0046:Elmo2 UTSW 2 165298726 missense probably damaging 0.97
R0278:Elmo2 UTSW 2 165297367 missense probably damaging 1.00
R0281:Elmo2 UTSW 2 165296890 missense probably damaging 1.00
R0472:Elmo2 UTSW 2 165298330 missense probably damaging 0.99
R0570:Elmo2 UTSW 2 165304919 missense probably benign 0.38
R1799:Elmo2 UTSW 2 165292157 missense probably damaging 1.00
R1940:Elmo2 UTSW 2 165292050 unclassified probably benign
R2005:Elmo2 UTSW 2 165298279 missense probably benign 0.00
R2504:Elmo2 UTSW 2 165298687 missense probably damaging 0.96
R2915:Elmo2 UTSW 2 165297653 unclassified probably benign
R3744:Elmo2 UTSW 2 165316002 missense probably damaging 0.96
R4027:Elmo2 UTSW 2 165294249 nonsense probably null
R4419:Elmo2 UTSW 2 165311755 unclassified probably null
R4824:Elmo2 UTSW 2 165292002 unclassified probably benign
R4888:Elmo2 UTSW 2 165295289 missense probably benign 0.14
R4950:Elmo2 UTSW 2 165314813 unclassified probably null
R5157:Elmo2 UTSW 2 165291707 unclassified probably benign
R5535:Elmo2 UTSW 2 165310212 missense possibly damaging 0.51
R5682:Elmo2 UTSW 2 165297410 missense probably damaging 1.00
R5840:Elmo2 UTSW 2 165295552 missense possibly damaging 0.64
R5868:Elmo2 UTSW 2 165294272 missense possibly damaging 0.89
R7022:Elmo2 UTSW 2 165295041 missense probably damaging 0.99
R7089:Elmo2 UTSW 2 165304929 missense not run
Posted On2014-01-21