Incidental Mutation 'IGL03089:Elmod3'
ID418275
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 #IGL03089
Quality Score
Status
Chromosome6
Chromosomal Location72565922-72598413 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 72569316 bp
ZygosityHeterozygous
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]
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: 95,677,246 S947P probably damaging Het
Agl T A 3: 116,781,023 H709L probably damaging Het
Alpi T A 1: 87,100,108 D250V probably benign Het
Anapc4 A G 5: 52,866,398 S735G probably benign Het
Ank1 A T 8: 23,104,832 I611L probably benign Het
Canx A G 11: 50,304,482 V253A possibly damaging Het
Cbfa2t3 A T 8: 122,635,134 I383N probably damaging Het
Cdc23 T C 18: 34,634,460 Y519C probably damaging Het
Celsr3 T A 9: 108,826,607 N96K probably benign Het
Clptm1 A G 7: 19,637,147 Y355H probably damaging Het
Col6a5 C T 9: 105,933,839 S827N unknown Het
Cyp21a1 G T 17: 34,803,446 probably null Het
Cyp24a1 T G 2: 170,485,966 H452P probably damaging Het
Cyp2c39 T A 19: 39,563,851 H329Q probably benign Het
D630003M21Rik C T 2: 158,216,744 R412Q probably benign Het
Dennd1b G A 1: 139,102,029 R308Q possibly damaging Het
Deup1 T C 9: 15,607,800 S137G possibly damaging Het
Dmbt1 T A 7: 131,111,049 I1583N probably damaging Het
Dvl1 G A 4: 155,855,152 V320M probably damaging Het
Emsy G A 7: 98,637,266 Q226* probably null Het
Ephb6 C A 6: 41,614,174 D88E probably damaging Het
Exoc1 A G 5: 76,542,158 M182V possibly damaging Het
Fbxw4 T G 19: 45,591,721 probably benign Het
Fgr A G 4: 132,986,266 D35G probably damaging Het
Gm13078 A G 4: 143,726,133 T45A probably benign Het
Gm20547 A T 17: 34,861,032 D366E probably damaging Het
Gucy1a1 T C 3: 82,097,681 N599S probably damaging Het
Ighg2b G A 12: 113,306,678 P240L probably damaging Het
Jak3 A G 8: 71,686,083 D975G probably benign Het
Klhl26 A T 8: 70,455,633 N24K probably benign Het
Letm1 T A 5: 33,760,858 E314D probably damaging Het
Lin54 A T 5: 100,450,993 F319L probably damaging Het
Lrp5 A T 19: 3,620,314 probably null Het
Lvrn T C 18: 46,880,709 F486S probably damaging Het
Nov C T 15: 54,749,284 R230C possibly damaging Het
Olfr1218 T C 2: 89,055,013 R138G probably benign Het
Olfr378 T C 11: 73,425,183 T267A probably benign Het
Olfr631 A C 7: 103,929,122 I100L probably benign Het
Olfr93 A G 17: 37,151,643 C110R probably damaging Het
Olfr969 A T 9: 39,795,681 Y102F probably benign Het
Sap30bp T A 11: 115,957,388 M112K possibly damaging Het
Sbno1 A G 5: 124,387,311 probably benign Het
Slc30a5 T C 13: 100,813,830 I307V probably benign Het
Trim37 T A 11: 87,190,137 D21E probably damaging Het
Usp34 T C 11: 23,446,958 F614S possibly damaging Het
Usp39 A C 6: 72,328,639 F387C probably damaging Het
Vipas39 C T 12: 87,253,254 C149Y probably damaging Het
Vmn2r107 C A 17: 20,375,712 H842Q probably benign Het
Vps18 T A 2: 119,293,177 V195E probably benign Het
Vsx1 A G 2: 150,685,590 probably benign Het
Other mutations in Elmod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Elmod3 APN 6 72586507 missense possibly damaging 0.66
IGL02725:Elmod3 APN 6 72594775 missense probably damaging 0.96
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 On2016-08-02