Incidental Mutation 'IGL02402:Elmo2'
ID291904
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 #IGL02402
Quality Score
Status
Chromosome2
Chromosomal Location165288031-165326479 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 165297392 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 412 (E412K)
Ref Sequence ENSEMBL: ENSMUSP00000099377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071699] [ENSMUST00000074046] [ENSMUST00000094329] [ENSMUST00000103088] [ENSMUST00000103091]
Predicted Effect probably damaging
Transcript: ENSMUST00000071699
AA Change: E412K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: E412K

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 possibly damaging
Transcript: ENSMUST00000074046
AA Change: E424K

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: E424K

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 possibly damaging
Transcript: ENSMUST00000094329
AA Change: E412K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: E412K

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 damaging
Transcript: ENSMUST00000103088
AA Change: E412K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: E412K

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 possibly damaging
Transcript: ENSMUST00000103091
AA Change: E412K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: E412K

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 noncoding transcript
Transcript: ENSMUST00000127496
Predicted Effect probably benign
Transcript: ENSMUST00000137188
SMART Domains Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

DomainStartEndE-ValueType
Pfam:DUF3361 17 172 1.6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148643
SMART Domains Protein: ENSMUSP00000117124
Gene: ENSMUSG00000017670

DomainStartEndE-ValueType
Pfam:ELMO_CED12 2 48 9.6e-10 PFAM
Pfam:PH_12 115 237 1.3e-35 PFAM
low complexity region 270 280 N/A INTRINSIC
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,559,424 F568L probably benign Het
Arntl2 T C 6: 146,809,768 V90A possibly damaging Het
AW112010 T A 19: 11,048,377 noncoding transcript Het
Bbs4 A T 9: 59,330,446 L205H probably benign Het
C2cd2l T C 9: 44,316,581 K121R probably benign Het
Car14 A G 3: 95,899,558 V198A possibly damaging Het
Cd22 G T 7: 30,877,530 H117Q possibly damaging Het
Celf1 T A 2: 90,998,723 I45N probably damaging Het
Cluh T C 11: 74,657,171 S103P probably damaging Het
Cyp39a1 T A 17: 43,691,722 L276Q probably benign Het
Ddx27 T G 2: 167,015,325 probably benign Het
Defb4 A T 8: 19,201,263 I49F possibly damaging Het
Dock8 C A 19: 25,078,145 T157K probably benign Het
Dpp6 T C 5: 27,634,543 V352A probably damaging Het
Eme1 G A 11: 94,650,907 P30S possibly damaging Het
Espnl G T 1: 91,344,813 A632S probably benign Het
Gfod1 C A 13: 43,200,735 A255S probably benign Het
Helz2 T A 2: 181,230,911 K2432M probably damaging Het
Idua T C 5: 108,679,791 L157P probably damaging Het
Ifi207 T A 1: 173,727,593 D848V probably damaging Het
Jag1 C T 2: 137,085,938 S851N possibly damaging Het
Kat6b T A 14: 21,631,347 F571I probably damaging Het
Lrrc74b G A 16: 17,558,164 probably benign Het
Mst1r A G 9: 107,916,827 K1160E probably damaging Het
Muc19 C A 15: 91,893,998 noncoding transcript Het
Nrg4 G A 9: 55,227,914 probably benign Het
Ociad1 T C 5: 73,300,694 I12T possibly damaging Het
Olfr98 A G 17: 37,263,220 V148A possibly damaging Het
Pold3 A G 7: 100,100,411 probably benign Het
Psmd5 T C 2: 34,857,772 E291G probably damaging Het
Ptpn23 A G 9: 110,393,713 V92A possibly damaging Het
Rab44 T A 17: 29,140,516 H559Q probably benign Het
Rbm6 T C 9: 107,852,852 D199G probably damaging Het
Rps18-ps3 C T 8: 107,263,122 noncoding transcript Het
Sept10 T C 10: 59,170,936 T93A probably benign Het
Slmap T C 14: 26,463,710 T111A probably damaging Het
Spata25 C T 2: 164,828,457 M1I probably null Het
Spink5 T A 18: 43,967,104 C63S probably damaging Het
Sycp3 T C 10: 88,466,563 probably benign Het
Tarbp1 A G 8: 126,450,828 probably benign Het
Thbs2 A T 17: 14,671,454 N940K probably benign Het
Tmem106b A T 6: 13,081,601 Q169L possibly damaging Het
Trpm6 G T 19: 18,786,756 C242F probably benign Het
Ush2a T A 1: 188,267,108 M205K probably benign Het
Utp18 A C 11: 93,883,791 probably benign Het
Other mutations in Elmo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Elmo2 APN 2 165292014 unclassified probably benign
IGL01096:Elmo2 APN 2 165296987 unclassified probably benign
IGL01694:Elmo2 APN 2 165314773 missense probably benign 0.05
IGL02016:Elmo2 APN 2 165295012 critical splice donor site probably null
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 possibly damaging 0.78
Posted On2015-04-16