Incidental Mutation 'IGL02808:Elmo2'
ID 360496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmo2
Ensembl Gene ENSMUSG00000017670
Gene Name engulfment and cell motility 2
Synonyms CED-12, 1190002F24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # IGL02808
Quality Score
Status
Chromosome 2
Chromosomal Location 165129951-165168399 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 165133627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017808] [ENSMUST00000071699] [ENSMUST00000074046] [ENSMUST00000094329] [ENSMUST00000103088] [ENSMUST00000103091] [ENSMUST00000130393] [ENSMUST00000133961] [ENSMUST00000156134] [ENSMUST00000109300] [ENSMUST00000109298] [ENSMUST00000131409] [ENSMUST00000109299] [ENSMUST00000132270]
AlphaFold Q8BHL5
Predicted Effect probably benign
Transcript: ENSMUST00000017808
SMART Domains Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
Pfam:UAA 15 320 3.5e-10 PFAM
Pfam:TPT 165 315 6.9e-37 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000071699
AA Change: D787G
SMART Domains Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: D787G

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
SMART Domains Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670

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
SMART Domains Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670

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: ENSMUST00000103088
AA Change: D787G
SMART Domains Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: D787G

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
SMART Domains Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670

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: ENSMUST00000147247
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
Predicted Effect probably benign
Transcript: ENSMUST00000130393
SMART Domains Protein: ENSMUSP00000123450
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133961
SMART Domains Protein: ENSMUSP00000118227
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
Pfam:UAA 15 188 9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156134
SMART Domains Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
Pfam:UAA 15 188 9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109300
SMART Domains Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
Pfam:TPT 15 314 2.7e-27 PFAM
Pfam:EamA 164 315 1.6e-8 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109298
SMART Domains Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
Pfam:UAA 15 320 3.5e-10 PFAM
Pfam:TPT 165 315 6.9e-37 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131409
SMART Domains Protein: ENSMUSP00000120036
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109299
SMART Domains Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
Pfam:UAA 15 320 3.5e-10 PFAM
Pfam:TPT 165 315 6.9e-37 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132270
SMART Domains Protein: ENSMUSP00000125708
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 15 37 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk C T 14: 21,153,901 (GRCm39) P35S probably benign Het
Ankmy1 T A 1: 92,814,388 (GRCm39) D373V probably damaging Het
Aox3 A G 1: 58,181,859 (GRCm39) Y282C probably damaging Het
Bcas3 A G 11: 85,386,677 (GRCm39) T371A probably benign Het
Bckdhb T C 9: 83,870,898 (GRCm39) V136A probably benign Het
Ccdc18 G T 5: 108,283,835 (GRCm39) probably benign Het
Cdc25a T A 9: 109,712,667 (GRCm39) probably null Het
Ckap5 T A 2: 91,426,859 (GRCm39) Y1394N probably damaging Het
Dhx15 A G 5: 52,319,041 (GRCm39) V458A possibly damaging Het
Dram1 T C 10: 88,172,786 (GRCm39) Y136C probably damaging Het
Dusp19 A G 2: 80,447,815 (GRCm39) K30E probably benign Het
Fcho1 G A 8: 72,165,185 (GRCm39) S424L possibly damaging Het
Ganc A G 2: 120,241,992 (GRCm39) T57A probably benign Het
Hgs T A 11: 120,360,492 (GRCm39) Y63* probably null Het
Marchf6 A T 15: 31,478,552 (GRCm39) N594K probably benign Het
Muc5ac C A 7: 141,359,512 (GRCm39) T1323N possibly damaging Het
Mycn T C 12: 12,989,893 (GRCm39) S168G probably benign Het
Phf11d G T 14: 59,586,739 (GRCm39) Q298K probably damaging Het
Pkd1 T A 17: 24,812,478 (GRCm39) Y3804N probably damaging Het
Pramel16 T A 4: 143,677,585 (GRCm39) probably benign Het
Prr14l A G 5: 32,985,526 (GRCm39) I1323T possibly damaging Het
Pyroxd2 T C 19: 42,719,781 (GRCm39) E475G probably benign Het
Ros1 T C 10: 52,001,985 (GRCm39) K1046E probably damaging Het
Sema7a C T 9: 57,867,631 (GRCm39) A461V probably benign Het
Slc30a2 T A 4: 134,071,360 (GRCm39) I31N possibly damaging Het
Srebf1 C A 11: 60,092,539 (GRCm39) probably null Het
Srms A T 2: 180,849,501 (GRCm39) I301N probably damaging Het
Tmem130 A G 5: 144,680,433 (GRCm39) Y324H probably damaging Het
Ttn G A 2: 76,601,602 (GRCm39) T18654I probably benign Het
Vmn2r6 T A 3: 64,463,917 (GRCm39) T306S probably damaging Het
Other mutations in Elmo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Elmo2 APN 2 165,133,934 (GRCm39) unclassified probably benign
IGL01096:Elmo2 APN 2 165,138,907 (GRCm39) unclassified probably benign
IGL01694:Elmo2 APN 2 165,156,693 (GRCm39) missense probably benign 0.05
IGL02016:Elmo2 APN 2 165,136,932 (GRCm39) critical splice donor site probably null
IGL02402:Elmo2 APN 2 165,139,312 (GRCm39) missense probably damaging 0.97
IGL03030:Elmo2 APN 2 165,136,237 (GRCm39) missense possibly damaging 0.93
IGL03117:Elmo2 APN 2 165,140,573 (GRCm39) missense probably benign 0.01
R0046:Elmo2 UTSW 2 165,140,646 (GRCm39) missense probably damaging 0.97
R0046:Elmo2 UTSW 2 165,140,646 (GRCm39) missense probably damaging 0.97
R0278:Elmo2 UTSW 2 165,139,287 (GRCm39) missense probably damaging 1.00
R0281:Elmo2 UTSW 2 165,138,810 (GRCm39) missense probably damaging 1.00
R0472:Elmo2 UTSW 2 165,140,250 (GRCm39) missense probably damaging 0.99
R0570:Elmo2 UTSW 2 165,146,839 (GRCm39) missense probably benign 0.38
R1799:Elmo2 UTSW 2 165,134,077 (GRCm39) missense probably damaging 1.00
R1940:Elmo2 UTSW 2 165,133,970 (GRCm39) unclassified probably benign
R2005:Elmo2 UTSW 2 165,140,199 (GRCm39) missense probably benign 0.00
R2504:Elmo2 UTSW 2 165,140,607 (GRCm39) missense probably damaging 0.96
R2915:Elmo2 UTSW 2 165,139,573 (GRCm39) unclassified probably benign
R3744:Elmo2 UTSW 2 165,157,922 (GRCm39) missense probably damaging 0.96
R4027:Elmo2 UTSW 2 165,136,169 (GRCm39) nonsense probably null
R4419:Elmo2 UTSW 2 165,153,675 (GRCm39) splice site probably null
R4824:Elmo2 UTSW 2 165,133,922 (GRCm39) unclassified probably benign
R4888:Elmo2 UTSW 2 165,137,209 (GRCm39) missense probably benign 0.14
R4950:Elmo2 UTSW 2 165,156,733 (GRCm39) splice site probably null
R5157:Elmo2 UTSW 2 165,133,627 (GRCm39) unclassified probably benign
R5535:Elmo2 UTSW 2 165,152,132 (GRCm39) missense possibly damaging 0.51
R5682:Elmo2 UTSW 2 165,139,330 (GRCm39) missense probably damaging 1.00
R5840:Elmo2 UTSW 2 165,137,472 (GRCm39) missense possibly damaging 0.64
R5868:Elmo2 UTSW 2 165,136,192 (GRCm39) missense possibly damaging 0.89
R7022:Elmo2 UTSW 2 165,136,961 (GRCm39) missense probably damaging 0.99
R7089:Elmo2 UTSW 2 165,146,849 (GRCm39) missense possibly damaging 0.78
R7678:Elmo2 UTSW 2 165,133,664 (GRCm39) missense unknown
R8024:Elmo2 UTSW 2 165,133,775 (GRCm39) missense unknown
R8290:Elmo2 UTSW 2 165,150,923 (GRCm39) missense probably damaging 1.00
R9150:Elmo2 UTSW 2 165,140,607 (GRCm39) missense probably damaging 0.96
R9166:Elmo2 UTSW 2 165,132,438 (GRCm39) missense probably benign 0.14
Posted On 2015-12-18