Incidental Mutation 'IGL02899:Elmod2'
ID363525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmod2
Ensembl Gene ENSMUSG00000035151
Gene NameELMO/CED-12 domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02899
Quality Score
Status
Chromosome8
Chromosomal Location83312632-83332486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83316933 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 202 (Y202H)
Ref Sequence ENSEMBL: ENSMUSP00000137044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053902] [ENSMUST00000139041] [ENSMUST00000177594]
Predicted Effect probably damaging
Transcript: ENSMUST00000053902
AA Change: Y202H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052287
Gene: ENSMUSG00000035151
AA Change: Y202H

DomainStartEndE-ValueType
Pfam:ELMO_CED12 107 272 2.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150124
Predicted Effect probably damaging
Transcript: ENSMUST00000177594
AA Change: Y202H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137044
Gene: ENSMUSG00000035151
AA Change: Y202H

DomainStartEndE-ValueType
Pfam:ELMO_CED12 110 271 1.6e-54 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C A 9: 103,277,574 V173L probably damaging Het
Arfgef2 A G 2: 166,869,051 probably benign Het
Btbd7 A G 12: 102,837,662 L373P probably damaging Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 A T 19: 56,793,488 I753N probably benign Het
Ccser2 G A 14: 36,940,759 T156I probably benign Het
Celsr1 A G 15: 86,031,726 M682T probably damaging Het
Cep97 C A 16: 55,918,540 S267I probably damaging Het
Dhx35 A G 2: 158,801,450 Y39C probably damaging Het
Dscam A T 16: 96,709,247 D937E probably damaging Het
Fyco1 T C 9: 123,830,331 N260S possibly damaging Het
Gm5591 A G 7: 38,519,418 L677P probably damaging Het
Gmppa A G 1: 75,441,830 probably null Het
Hltf C T 3: 20,099,817 T639I probably damaging Het
Kpnb1 T C 11: 97,175,786 Y321C probably damaging Het
Lgr4 G A 2: 109,918,253 G45R probably damaging Het
Ltn1 T C 16: 87,382,659 D1538G probably benign Het
Maf1 T A 15: 76,353,020 probably benign Het
Morn5 T C 2: 36,055,037 F91S probably damaging Het
Ncan C T 8: 70,115,048 R138H possibly damaging Het
Olfr1328 A T 4: 118,934,662 M62K probably damaging Het
Olfr203 G T 16: 59,303,286 L44F probably damaging Het
Parg T C 14: 32,238,574 L82S probably damaging Het
Ppp2r2b A T 18: 42,645,809 H417Q probably damaging Het
Rb1cc1 T C 1: 6,264,583 L98P probably damaging Het
Ryr1 C A 7: 29,048,795 V3752L possibly damaging Het
Slc25a12 A G 2: 71,279,635 L489P probably damaging Het
Slc38a8 C T 8: 119,485,543 V354M probably benign Het
Slf2 A G 19: 44,942,020 E512G probably benign Het
Tarbp1 A G 8: 126,453,844 M597T probably damaging Het
Tgfb3 G A 12: 86,069,776 R163C probably damaging Het
Tmco5b A G 2: 113,296,920 M279V probably benign Het
Ttll9 G A 2: 153,002,951 G413D probably damaging Het
Tut1 A G 19: 8,962,387 D245G probably damaging Het
Usf3 T A 16: 44,221,226 V2023E probably damaging Het
Vps33a C T 5: 123,531,176 G554D probably damaging Het
Zfp27 C A 7: 29,896,255 R95M possibly damaging Het
Other mutations in Elmod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Elmod2 APN 8 83316792 splice site probably benign
IGL02040:Elmod2 APN 8 83321497 missense probably damaging 1.00
IGL02207:Elmod2 APN 8 83321506 missense probably benign 0.07
PIT4418001:Elmod2 UTSW 8 83321542 missense probably benign 0.09
R0131:Elmod2 UTSW 8 83319504 missense probably damaging 1.00
R0827:Elmod2 UTSW 8 83316795 splice site probably null
R1909:Elmod2 UTSW 8 83316369 missense probably benign 0.01
R1925:Elmod2 UTSW 8 83321464 missense probably benign 0.10
R4675:Elmod2 UTSW 8 83316908 missense probably damaging 1.00
R6526:Elmod2 UTSW 8 83319457 missense probably damaging 1.00
R7259:Elmod2 UTSW 8 83321509 missense probably damaging 1.00
R7311:Elmod2 UTSW 8 83319412 critical splice donor site probably null
R7873:Elmod2 UTSW 8 83331219 missense probably benign 0.00
R8804:Elmod2 UTSW 8 83319521 missense probably benign 0.00
X0028:Elmod2 UTSW 8 83316428 missense possibly damaging 0.96
X0062:Elmod2 UTSW 8 83321497 missense probably damaging 1.00
Z1177:Elmod2 UTSW 8 83317777 missense possibly damaging 0.82
Z1177:Elmod2 UTSW 8 83321501 missense probably damaging 1.00
Posted On2015-12-18