Incidental Mutation 'IGL01818:Elmod3'
ID 154435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmod3
Ensembl Gene ENSMUSG00000056698
Gene Name ELMO/CED-12 domain containing 3
Synonyms Rbed1, ELMOD3, C330008I15Rik, RBM29
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01818
Quality Score
Status
Chromosome 6
Chromosomal Location 72542905-72575396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72563490 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91YP6
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
Agrp T C 8: 106,294,018 (GRCm39) D35G probably benign Het
C3ar1 T C 6: 122,827,378 (GRCm39) N280D probably benign Het
Ccpg1 A G 9: 72,904,735 (GRCm39) T15A probably damaging Het
Chmp7 A G 14: 69,956,616 (GRCm39) V361A probably damaging Het
Dnmbp T A 19: 43,889,604 (GRCm39) K721M probably damaging Het
Gm4922 T C 10: 18,660,701 (GRCm39) D7G unknown Het
H2-T24 C A 17: 36,328,128 (GRCm39) probably benign Het
Hal A T 10: 93,326,846 (GRCm39) T161S probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Minar1 T C 9: 89,483,366 (GRCm39) E677G probably damaging Het
Mrps31 T C 8: 22,901,483 (GRCm39) M1T probably null Het
Nckap1l T C 15: 103,386,709 (GRCm39) L628P probably damaging Het
Oosp2 T C 19: 11,627,053 (GRCm39) N90S probably benign Het
Pitpnm3 A G 11: 72,003,077 (GRCm39) probably benign Het
Ppox A T 1: 171,108,318 (GRCm39) I6K probably benign Het
Skint6 G T 4: 112,805,766 (GRCm39) Q690K probably benign Het
Stat1 T C 1: 52,190,437 (GRCm39) I564T probably damaging Het
Tiam1 T A 16: 89,664,592 (GRCm39) I539F probably damaging Het
Tmem191 A G 16: 17,095,594 (GRCm39) R35G possibly damaging Het
Trim30d A T 7: 104,121,267 (GRCm39) C343S probably damaging Het
Trpm3 T C 19: 22,891,838 (GRCm39) L736S probably damaging Het
Vmn2r73 T A 7: 85,519,109 (GRCm39) probably benign Het
Other mutations in Elmod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02725:Elmod3 APN 6 72,571,758 (GRCm39) missense probably damaging 0.96
IGL03089:Elmod3 APN 6 72,546,299 (GRCm39) missense probably damaging 1.00
R0092:Elmod3 UTSW 6 72,543,792 (GRCm39) missense probably benign
R0173:Elmod3 UTSW 6 72,554,571 (GRCm39) missense probably damaging 1.00
R0925:Elmod3 UTSW 6 72,545,921 (GRCm39) missense probably damaging 1.00
R1602:Elmod3 UTSW 6 72,546,242 (GRCm39) critical splice donor site probably null
R3147:Elmod3 UTSW 6 72,563,485 (GRCm39) missense probably benign 0.01
R5594:Elmod3 UTSW 6 72,571,799 (GRCm39) unclassified probably benign
R5870:Elmod3 UTSW 6 72,571,721 (GRCm39) critical splice donor site probably null
R6045:Elmod3 UTSW 6 72,545,851 (GRCm39) missense probably benign
R7173:Elmod3 UTSW 6 72,554,235 (GRCm39) critical splice donor site probably null
R7229:Elmod3 UTSW 6 72,571,736 (GRCm39) missense probably benign 0.09
R8534:Elmod3 UTSW 6 72,543,667 (GRCm39) missense probably benign 0.01
R8887:Elmod3 UTSW 6 72,563,494 (GRCm39) missense probably damaging 1.00
R9060:Elmod3 UTSW 6 72,543,790 (GRCm39) missense probably damaging 1.00
Z1177:Elmod3 UTSW 6 72,543,672 (GRCm39) missense probably benign 0.37
Posted On 2014-02-04