Incidental Mutation 'IGL01818:Elmod3'
ID154435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmod3
Ensembl Gene ENSMUSG00000056698
Gene NameELMO/CED-12 domain containing 3
SynonymsELMOD3, RBM29, Rbed1, C330008I15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01818
Quality Score
Status
Chromosome6
Chromosomal Location72565922-72598413 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72586507 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 46 (E46G)
Ref Sequence ENSEMBL: ENSMUSP00000145544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070990] [ENSMUST00000114069] [ENSMUST00000141833] [ENSMUST00000148108] [ENSMUST00000152705]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070990
AA Change: E46G

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698
AA Change: E46G

DomainStartEndE-ValueType
Pfam:ELMO_CED12 151 314 3.3e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114069
AA Change: E46G

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698
AA Change: E46G

DomainStartEndE-ValueType
Pfam:ELMO_CED12 154 313 1.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140825
Predicted Effect possibly damaging
Transcript: ENSMUST00000141833
AA Change: E46G

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000148108
AA Change: E10G

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000152705
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 a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF529169 T C 9: 89,601,313 E677G probably damaging Het
Agrp T C 8: 105,567,386 D35G probably benign Het
C3ar1 T C 6: 122,850,419 N280D probably benign Het
Ccpg1 A G 9: 72,997,453 T15A probably damaging Het
Chmp7 A G 14: 69,719,167 V361A probably damaging Het
Dnmbp T A 19: 43,901,165 K721M probably damaging Het
Gm4922 T C 10: 18,784,953 D7G unknown Het
H2-T24 C A 17: 36,017,236 probably benign Het
Hal A T 10: 93,490,984 T161S probably damaging Het
Htr1d A G 4: 136,442,886 E142G probably benign Het
Mrps31 T C 8: 22,411,467 M1T probably null Het
Nckap1l T C 15: 103,478,282 L628P probably damaging Het
Oosp2 T C 19: 11,649,689 N90S probably benign Het
Pitpnm3 A G 11: 72,112,251 probably benign Het
Ppox A T 1: 171,280,744 I6K probably benign Het
Skint6 G T 4: 112,948,569 Q690K probably benign Het
Stat1 T C 1: 52,151,278 I564T probably damaging Het
Tiam1 T A 16: 89,867,704 I539F probably damaging Het
Tmem191c A G 16: 17,277,730 R35G possibly damaging Het
Trim30d A T 7: 104,472,060 C343S probably damaging Het
Trpm3 T C 19: 22,914,474 L736S probably damaging Het
Vmn2r73 T A 7: 85,869,901 probably benign Het
Other mutations in Elmod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02725:Elmod3 APN 6 72594775 missense probably damaging 0.96
IGL03089:Elmod3 APN 6 72569316 missense probably damaging 1.00
R0092:Elmod3 UTSW 6 72566809 missense probably benign
R0173:Elmod3 UTSW 6 72577588 missense probably damaging 1.00
R0925:Elmod3 UTSW 6 72568938 missense probably damaging 1.00
R1602:Elmod3 UTSW 6 72569259 critical splice donor site probably null
R3147:Elmod3 UTSW 6 72586502 missense probably benign 0.01
R5594:Elmod3 UTSW 6 72594816 unclassified probably benign
R5870:Elmod3 UTSW 6 72594738 critical splice donor site probably null
R6045:Elmod3 UTSW 6 72568868 missense probably benign
R7173:Elmod3 UTSW 6 72577252 critical splice donor site probably null
R7229:Elmod3 UTSW 6 72594753 missense probably benign 0.09
Z1177:Elmod3 UTSW 6 72566689 missense probably benign 0.37
Posted On2014-02-04