Incidental Mutation 'IGL03089:Elmod3'
ID 418275
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 # IGL03089
Quality Score
Status
Chromosome 6
Chromosomal Location 72542905-72575396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72546299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 254 (S254P)
Ref Sequence ENSEMBL: ENSMUSP00000145544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070990] [ENSMUST00000114069] [ENSMUST00000141833] [ENSMUST00000148108]
AlphaFold Q91YP6
Predicted Effect probably damaging
Transcript: ENSMUST00000070990
AA Change: S254P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698
AA Change: S254P

DomainStartEndE-ValueType
Pfam:ELMO_CED12 151 314 3.3e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114069
AA Change: S254P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698
AA Change: S254P

DomainStartEndE-ValueType
Pfam:ELMO_CED12 154 313 1.2e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141833
AA Change: S254P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000148108
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,584,556 (GRCm39) S947P probably damaging Het
Agl T A 3: 116,574,672 (GRCm39) H709L probably damaging Het
Alpi T A 1: 87,027,830 (GRCm39) D250V probably benign Het
Anapc4 A G 5: 53,023,740 (GRCm39) S735G probably benign Het
Ank1 A T 8: 23,594,848 (GRCm39) I611L probably benign Het
Canx A G 11: 50,195,309 (GRCm39) V253A possibly damaging Het
Cbfa2t3 A T 8: 123,361,873 (GRCm39) I383N probably damaging Het
Ccn3 C T 15: 54,612,680 (GRCm39) R230C possibly damaging Het
Cdc23 T C 18: 34,767,513 (GRCm39) Y519C probably damaging Het
Celsr3 T A 9: 108,703,806 (GRCm39) N96K probably benign Het
Clptm1 A G 7: 19,371,072 (GRCm39) Y355H probably damaging Het
Col6a5 C T 9: 105,811,038 (GRCm39) S827N unknown Het
Cyp21a1 G T 17: 35,022,420 (GRCm39) probably null Het
Cyp24a1 T G 2: 170,327,886 (GRCm39) H452P probably damaging Het
Cyp2c39 T A 19: 39,552,295 (GRCm39) H329Q probably benign Het
D630003M21Rik C T 2: 158,058,664 (GRCm39) R412Q probably benign Het
Dennd1b G A 1: 139,029,767 (GRCm39) R308Q possibly damaging Het
Deup1 T C 9: 15,519,096 (GRCm39) S137G possibly damaging Het
Dmbt1 T A 7: 130,712,778 (GRCm39) I1583N probably damaging Het
Dvl1 G A 4: 155,939,609 (GRCm39) V320M probably damaging Het
Emsy G A 7: 98,286,473 (GRCm39) Q226* probably null Het
Ephb6 C A 6: 41,591,108 (GRCm39) D88E probably damaging Het
Exoc1 A G 5: 76,690,005 (GRCm39) M182V possibly damaging Het
Fbxw4 T G 19: 45,580,160 (GRCm39) probably benign Het
Fgr A G 4: 132,713,577 (GRCm39) D35G probably damaging Het
Gm20547 A T 17: 35,080,008 (GRCm39) D366E probably damaging Het
Gucy1a1 T C 3: 82,004,988 (GRCm39) N599S probably damaging Het
Ighg2b G A 12: 113,270,298 (GRCm39) P240L probably damaging Het
Jak3 A G 8: 72,138,727 (GRCm39) D975G probably benign Het
Klhl26 A T 8: 70,908,283 (GRCm39) N24K probably benign Het
Letm1 T A 5: 33,918,202 (GRCm39) E314D probably damaging Het
Lin54 A T 5: 100,598,852 (GRCm39) F319L probably damaging Het
Lrp5 A T 19: 3,670,314 (GRCm39) probably null Het
Lvrn T C 18: 47,013,776 (GRCm39) F486S probably damaging Het
Or1e19 T C 11: 73,316,009 (GRCm39) T267A probably benign Het
Or2h1b A G 17: 37,462,534 (GRCm39) C110R probably damaging Het
Or4c113 T C 2: 88,885,357 (GRCm39) R138G probably benign Het
Or51m1 A C 7: 103,578,329 (GRCm39) I100L probably benign Het
Or8g54 A T 9: 39,706,977 (GRCm39) Y102F probably benign Het
Pramel24 A G 4: 143,452,703 (GRCm39) T45A probably benign Het
Sap30bp T A 11: 115,848,214 (GRCm39) M112K possibly damaging Het
Sbno1 A G 5: 124,525,374 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,950,338 (GRCm39) I307V probably benign Het
Trim37 T A 11: 87,080,963 (GRCm39) D21E probably damaging Het
Usp34 T C 11: 23,396,958 (GRCm39) F614S possibly damaging Het
Usp39 A C 6: 72,305,622 (GRCm39) F387C probably damaging Het
Vipas39 C T 12: 87,300,028 (GRCm39) C149Y probably damaging Het
Vmn2r107 C A 17: 20,595,974 (GRCm39) H842Q probably benign Het
Vps18 T A 2: 119,123,658 (GRCm39) V195E probably benign Het
Vsx1 A G 2: 150,527,510 (GRCm39) probably benign Het
Other mutations in Elmod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Elmod3 APN 6 72,563,490 (GRCm39) missense possibly damaging 0.66
IGL02725:Elmod3 APN 6 72,571,758 (GRCm39) missense probably damaging 0.96
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 2016-08-02