Incidental Mutation 'IGL02016:Elmo2'
ID 183772
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 # IGL02016
Quality Score
Status
Chromosome 2
Chromosomal Location 165129951-165168399 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 165136932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000071699] [ENSMUST00000071699] [ENSMUST00000074046] [ENSMUST00000074046] [ENSMUST00000094329] [ENSMUST00000094329] [ENSMUST00000103088] [ENSMUST00000103088] [ENSMUST00000103091] [ENSMUST00000103091]
AlphaFold Q8BHL5
Predicted Effect probably null
Transcript: ENSMUST00000071699
SMART Domains Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670

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 null
Transcript: ENSMUST00000071699
SMART Domains Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670

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 null
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 null
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 null
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 probably null
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 probably null
Transcript: ENSMUST00000103088
SMART Domains Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670

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 null
Transcript: ENSMUST00000103088
SMART Domains Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670

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 null
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 probably null
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: ENSMUST00000127496
Predicted Effect probably null
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 null
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 null
Transcript: ENSMUST00000137188
SMART Domains Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

DomainStartEndE-ValueType
Pfam:DUF3361 17 172 1.6e-64 PFAM
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,028,875 (GRCm39) G108V probably damaging Het
A2ml1 T C 6: 128,535,298 (GRCm39) E804G probably damaging Het
Abcg4 G A 9: 44,198,647 (GRCm39) T35M probably damaging Het
Acad9 A T 3: 36,142,635 (GRCm39) probably null Het
Adgrv1 T C 13: 81,545,572 (GRCm39) D5571G probably damaging Het
App T A 16: 84,853,409 (GRCm39) D223V unknown Het
Arhgap30 A G 1: 171,235,315 (GRCm39) E563G probably damaging Het
Atp6v1e2 A T 17: 87,251,822 (GRCm39) V192D probably damaging Het
Atr G A 9: 95,809,228 (GRCm39) V1969I probably benign Het
Bean1 T C 8: 104,937,550 (GRCm39) L43S possibly damaging Het
Cand1 A G 10: 119,048,473 (GRCm39) V436A probably damaging Het
Card6 T C 15: 5,137,738 (GRCm39) I39V probably damaging Het
Ccdc73 A G 2: 104,805,961 (GRCm39) T300A probably benign Het
Ccdc88c T C 12: 100,907,466 (GRCm39) T962A possibly damaging Het
Chd6 G T 2: 160,825,598 (GRCm39) L1169I probably damaging Het
Chrna7 A T 7: 62,753,583 (GRCm39) V312E probably damaging Het
Dna2 A G 10: 62,796,191 (GRCm39) N540S probably benign Het
Elavl2 T C 4: 91,149,172 (GRCm39) E209G probably damaging Het
Fto A T 8: 92,393,034 (GRCm39) R494* probably null Het
Garre1 A G 7: 33,938,526 (GRCm39) M791T possibly damaging Het
Gm9966 A T 7: 95,608,014 (GRCm39) T112S unknown Het
Gtf3c1 A C 7: 125,267,211 (GRCm39) I940S probably damaging Het
Hecw2 C A 1: 53,870,702 (GRCm39) Q1426H possibly damaging Het
Iars2 A C 1: 185,035,503 (GRCm39) L579R probably damaging Het
Ifih1 A C 2: 62,437,328 (GRCm39) M537R probably benign Het
Kcnmb4 A G 10: 116,282,367 (GRCm39) probably benign Het
Large2 A G 2: 92,199,888 (GRCm39) V175A possibly damaging Het
Mad2l1bp A G 17: 46,464,428 (GRCm39) probably benign Het
Muc20 A T 16: 32,617,722 (GRCm39) F14Y possibly damaging Het
Myom2 A G 8: 15,175,195 (GRCm39) E1258G probably benign Het
Or8k28 A T 2: 86,285,841 (GRCm39) M258K probably damaging Het
Parp1 A T 1: 180,426,516 (GRCm39) probably null Het
Pramel22 T A 4: 143,381,889 (GRCm39) E269V possibly damaging Het
Prkra A T 2: 76,473,653 (GRCm39) probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scd1 C T 19: 44,388,746 (GRCm39) G235S probably benign Het
Sdk1 A G 5: 142,020,184 (GRCm39) H654R possibly damaging Het
Sesn3 A G 9: 14,231,633 (GRCm39) Y188C probably damaging Het
Slc26a4 T C 12: 31,585,666 (GRCm39) M461V probably damaging Het
Slc28a2 A G 2: 122,285,822 (GRCm39) I439V probably benign Het
Smc5 T A 19: 23,251,076 (GRCm39) N36I probably benign Het
Smurf2 A G 11: 106,713,504 (GRCm39) F745S probably damaging Het
Spata22 A G 11: 73,226,857 (GRCm39) N65S possibly damaging Het
Tanc1 A G 2: 59,673,934 (GRCm39) T1680A probably benign Het
Tnxb G A 17: 34,891,249 (GRCm39) V531M probably damaging Het
Trpm3 T G 19: 22,879,433 (GRCm39) Y727* probably null Het
Tssk1 A T 16: 17,712,758 (GRCm39) Y181F probably damaging Het
Ucp3 T A 7: 100,129,766 (GRCm39) V136E probably damaging Het
Uqcrfs1 A C 13: 30,729,097 (GRCm39) V45G probably benign Het
Uvrag A G 7: 98,748,649 (GRCm39) I101T probably benign Het
Vmn1r206 A T 13: 22,804,334 (GRCm39) L291Q probably damaging Het
Wnk2 T A 13: 49,210,381 (GRCm39) I1813F probably damaging Het
Zbtb3 T A 19: 8,780,579 (GRCm39) V64E probably damaging Het
Zeb2 A G 2: 44,878,886 (GRCm39) I1115T possibly damaging Het
Zfp280b C T 10: 75,874,945 (GRCm39) L275F possibly 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
IGL02402:Elmo2 APN 2 165,139,312 (GRCm39) missense probably damaging 0.97
IGL02808:Elmo2 APN 2 165,133,627 (GRCm39) unclassified probably benign
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 2014-05-07