Incidental Mutation 'IGL00391:Elmod1'
ID332361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmod1
Ensembl Gene ENSMUSG00000041986
Gene NameELMO/CED-12 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00391
Quality Score
Status
Chromosome9
Chromosomal Location53911457-53975301 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 53924398 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048409] [ENSMUST00000166580]
Predicted Effect probably null
Transcript: ENSMUST00000048409
SMART Domains Protein: ENSMUSP00000046191
Gene: ENSMUSG00000041986

DomainStartEndE-ValueType
Pfam:ELMO_CED12 117 295 3.8e-49 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166580
SMART Domains Protein: ENSMUSP00000129082
Gene: ENSMUSG00000041986

DomainStartEndE-ValueType
Pfam:ELMO_CED12 114 296 9.6e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216880
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous allele exhibit circling, absent startle reflex, deafness, organ of Corti degeneration and abnormal cochlear hair stereociliary bundle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Elmod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Elmod1 APN 9 53931480 missense probably benign 0.01
IGL01966:Elmod1 APN 9 53921327 missense probably benign 0.00
IGL02354:Elmod1 APN 9 53931558 missense probably damaging 1.00
IGL02361:Elmod1 APN 9 53931558 missense probably damaging 1.00
IGL03107:Elmod1 APN 9 53934223 splice site probably benign
IGL03277:Elmod1 APN 9 53925988 missense probably damaging 1.00
R0013:Elmod1 UTSW 9 53912901 splice site probably benign
R0013:Elmod1 UTSW 9 53912901 splice site probably benign
R0243:Elmod1 UTSW 9 53935547 splice site probably benign
R0530:Elmod1 UTSW 9 53925976 missense probably damaging 0.96
R0555:Elmod1 UTSW 9 53931592 splice site probably benign
R0592:Elmod1 UTSW 9 53926106 splice site probably benign
R0670:Elmod1 UTSW 9 53912822 missense probably damaging 0.96
R1054:Elmod1 UTSW 9 53912774 missense probably benign 0.02
R1195:Elmod1 UTSW 9 53935768 missense probably damaging 1.00
R1195:Elmod1 UTSW 9 53935768 missense probably damaging 1.00
R1195:Elmod1 UTSW 9 53935768 missense probably damaging 1.00
R1875:Elmod1 UTSW 9 53935867 missense probably benign 0.00
R4445:Elmod1 UTSW 9 53934129 missense probably damaging 1.00
R4573:Elmod1 UTSW 9 53925972 missense probably damaging 1.00
R5895:Elmod1 UTSW 9 53935807 missense probably damaging 0.99
R6826:Elmod1 UTSW 9 53919599 missense probably benign 0.02
R7181:Elmod1 UTSW 9 53934098 splice site probably null
R7334:Elmod1 UTSW 9 53934224 splice site probably null
R7422:Elmod1 UTSW 9 53912843 missense probably damaging 0.99
R7964:Elmod1 UTSW 9 53931576 missense probably benign 0.00
R8511:Elmod1 UTSW 9 53912811 missense probably damaging 1.00
Z1088:Elmod1 UTSW 9 53919614 missense probably benign 0.00
Z1176:Elmod1 UTSW 9 53946860 missense probably benign 0.22
Posted On2015-08-05