Incidental Mutation 'R6045:Elmod3'
ID 483769
Institutional Source Beutler Lab
Gene Symbol Elmod3
Ensembl Gene ENSMUSG00000056698
Gene Name ELMO/CED-12 domain containing 3
Synonyms Rbed1, ELMOD3, C330008I15Rik, RBM29
MMRRC Submission 044213-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6045 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 72542905-72575396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72545851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 297 (R297H)
Ref Sequence ENSEMBL: ENSMUSP00000145544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070990] [ENSMUST00000114069] [ENSMUST00000141833] [ENSMUST00000148108]
AlphaFold Q91YP6
Predicted Effect probably benign
Transcript: ENSMUST00000070990
AA Change: R297H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698
AA Change: R297H

DomainStartEndE-ValueType
Pfam:ELMO_CED12 151 314 3.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114069
AA Change: R297H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698
AA Change: R297H

DomainStartEndE-ValueType
Pfam:ELMO_CED12 154 313 1.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141833
AA Change: R297H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000148108
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,955,996 (GRCm39) Y87C probably benign Het
5530401A14Rik A G 11: 81,784,694 (GRCm39) probably benign Het
Adamts5 T C 16: 85,696,188 (GRCm39) D323G probably damaging Het
Albfm1 A T 5: 90,732,848 (GRCm39) Q553L possibly damaging Het
Bicc1 G A 10: 70,792,911 (GRCm39) R248* probably null Het
Bivm T G 1: 44,158,233 (GRCm39) probably benign Het
Btnl12 G T 16: 37,676,384 (GRCm39) Q128K probably benign Het
Ccdc8 A C 7: 16,729,956 (GRCm39) T482P unknown Het
Ccnb2 T C 9: 70,326,375 (GRCm39) I21V probably benign Het
Cfap73 A T 5: 120,769,777 (GRCm39) I82N probably damaging Het
Chd3 A C 11: 69,242,944 (GRCm39) F1426V possibly damaging Het
Clcn2 A T 16: 20,530,438 (GRCm39) probably null Het
Col6a5 T C 9: 105,803,117 (GRCm39) N1283D unknown Het
Cyp39a1 G T 17: 44,042,882 (GRCm39) G411W probably damaging Het
D130052B06Rik A T 11: 33,574,008 (GRCm39) I202L unknown Het
Defa38 A T 8: 21,585,248 (GRCm39) C65S possibly damaging Het
Dlgap1 T C 17: 71,125,093 (GRCm39) L948P probably damaging Het
Dnah3 C T 7: 119,566,745 (GRCm39) V2494M probably damaging Het
Dysf T A 6: 84,091,054 (GRCm39) V1076D probably damaging Het
Eif2ak4 C A 2: 118,219,296 (GRCm39) S36* probably null Het
Epas1 C A 17: 87,116,827 (GRCm39) R166S probably damaging Het
Erv3 A G 2: 131,697,942 (GRCm39) L139P probably damaging Het
Fryl A G 5: 73,275,894 (GRCm39) V90A probably damaging Het
Fxr2 A G 11: 69,541,877 (GRCm39) R439G possibly damaging Het
Gabrd A T 4: 155,470,931 (GRCm39) V259D possibly damaging Het
Galnt10 A G 11: 57,674,619 (GRCm39) Y536C probably damaging Het
Gbp10 A T 5: 105,366,269 (GRCm39) L545Q probably damaging Het
Gfpt1 A T 6: 87,062,239 (GRCm39) I517F probably damaging Het
Glb1 T C 9: 114,267,010 (GRCm39) Y225H probably damaging Het
Gm1110 C T 9: 26,794,505 (GRCm39) probably null Het
Gmps C T 3: 63,887,558 (GRCm39) P10L probably benign Het
Greb1l T A 18: 10,547,068 (GRCm39) V1465D probably damaging Het
Helz2 A G 2: 180,882,106 (GRCm39) V229A probably benign Het
Hipk1 A T 3: 103,654,218 (GRCm39) L924Q probably benign Het
Ifngr1 T G 10: 19,484,909 (GRCm39) L303V possibly damaging Het
Kif22 T C 7: 126,630,250 (GRCm39) N429D probably benign Het
Ktn1 T C 14: 47,914,253 (GRCm39) Y401H probably damaging Het
Lars2 T G 9: 123,201,053 (GRCm39) I39S probably damaging Het
Lipf C T 19: 33,944,244 (GRCm39) A151V probably damaging Het
Lrp1 A T 10: 127,402,469 (GRCm39) M2234K probably damaging Het
Lrp1b A G 2: 40,591,825 (GRCm39) V56A unknown Het
Lyar T A 5: 38,391,352 (GRCm39) H350Q probably benign Het
Mill2 A T 7: 18,590,489 (GRCm39) M190L probably benign Het
Morc3 A G 16: 93,671,733 (GRCm39) D921G probably damaging Het
Mpp2 G T 11: 101,950,180 (GRCm39) T558K probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Neb A C 2: 52,084,437 (GRCm39) probably null Het
Nedd1 G A 10: 92,530,962 (GRCm39) R376* probably null Het
Nlrc4 T G 17: 74,753,954 (GRCm39) D143A probably damaging Het
Nol10 G T 12: 17,398,479 (GRCm39) probably benign Het
Opn1sw A G 6: 29,379,869 (GRCm39) S122P probably damaging Het
Or10j3b C T 1: 173,044,067 (GRCm39) T283I possibly damaging Het
Or4f14d T G 2: 111,960,881 (GRCm39) I92L possibly damaging Het
Or52h7 C T 7: 104,213,974 (GRCm39) T182I probably benign Het
Or5an9 C A 19: 12,187,659 (GRCm39) A243D probably damaging Het
Or5h27 T A 16: 59,006,454 (GRCm39) T131S probably benign Het
Orm1 T A 4: 63,262,929 (GRCm39) I32N possibly damaging Het
Pcdhb5 T A 18: 37,454,628 (GRCm39) V336E probably damaging Het
Poli C T 18: 70,650,540 (GRCm39) R363K possibly damaging Het
Rabgap1l T C 1: 160,472,893 (GRCm39) E515G probably benign Het
Rem2 C A 14: 54,715,225 (GRCm39) T134N probably damaging Het
Rfc1 A G 5: 65,436,892 (GRCm39) I596T probably damaging Het
Ruvbl2 A T 7: 45,074,433 (GRCm39) I202N probably damaging Het
S100a6 T A 3: 90,521,186 (GRCm39) I38N probably damaging Het
Scel T C 14: 103,829,649 (GRCm39) C435R probably benign Het
Slc6a13 T A 6: 121,298,587 (GRCm39) W146R probably damaging Het
Sorcs1 T A 19: 50,178,555 (GRCm39) K856* probably null Het
Speer4e1 T G 5: 14,987,195 (GRCm39) K70T possibly damaging Het
Sucla2 T A 14: 73,806,404 (GRCm39) C158* probably null Het
Tie1 G A 4: 118,341,888 (GRCm39) S187L probably benign Het
Tmem200a T C 10: 25,868,905 (GRCm39) T455A probably damaging Het
Tra2a A G 6: 49,229,398 (GRCm39) probably benign Het
Tsnaxip1 A C 8: 106,570,819 (GRCm39) E615A probably benign Het
Tuba3b T A 6: 145,566,900 (GRCm39) N380K probably damaging Het
Umod C T 7: 119,076,046 (GRCm39) S240N probably benign Het
Vmn2r92 G A 17: 18,388,305 (GRCm39) probably null Het
Vps13b A G 15: 35,671,462 (GRCm39) E1655G probably damaging Het
Vwde A T 6: 13,219,935 (GRCm39) I72N probably damaging Het
Wbp11 G A 6: 136,798,533 (GRCm39) A172V probably damaging Het
Zbtb41 T A 1: 139,351,770 (GRCm39) N294K probably benign Het
Zfhx4 T A 3: 5,462,019 (GRCm39) H1206Q probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAATCATCAGACGCATACGG -3'
(R):5'- AAGTGCCAGGTTGCCAAATG -3'

Posted On 2017-07-14