Incidental Mutation 'R1054:Elmod1'
ID94200
Institutional Source Beutler Lab
Gene Symbol Elmod1
Ensembl Gene ENSMUSG00000041986
Gene NameELMO/CED-12 domain containing 1
Synonyms
MMRRC Submission 039144-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1054 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location53911457-53975301 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53912774 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 310 (D310G)
Ref Sequence ENSEMBL: ENSMUSP00000129082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048409] [ENSMUST00000166580]
Predicted Effect probably benign
Transcript: ENSMUST00000048409
AA Change: D310G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000046191
Gene: ENSMUSG00000041986
AA Change: D310G

DomainStartEndE-ValueType
Pfam:ELMO_CED12 117 295 3.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166580
AA Change: D310G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129082
Gene: ENSMUSG00000041986
AA Change: D310G

DomainStartEndE-ValueType
Pfam:ELMO_CED12 114 296 9.6e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215313
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous allele exhibit circling, absent startle reflex, deafness, organ of Corti degeneration and abnormal cochlear hair stereociliary bundle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,751,559 T159A probably benign Het
Arhgef38 T C 3: 133,116,465 Y763C probably damaging Het
Arv1 T A 8: 124,731,872 F245Y probably benign Het
Ccdc175 A G 12: 72,178,544 I113T possibly damaging Het
Cdc42bpb A T 12: 111,313,353 M932K probably benign Het
Cdh15 T C 8: 122,864,337 F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 D105N probably damaging Het
Cpne4 A G 9: 105,022,401 T428A probably benign Het
Cramp1l T A 17: 24,983,177 I444F probably damaging Het
Dhx32 T A 7: 133,725,272 K360M probably damaging Het
Dna2 T A 10: 62,963,823 C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 142,082,067 probably benign Het
Eif3f G A 7: 108,937,817 probably null Het
Fam105a T C 15: 27,664,549 R79G probably damaging Het
Fn1 A G 1: 71,586,214 *2272Q probably null Het
Gm12800 A G 4: 101,909,164 E15G probably benign Het
Gm8765 T C 13: 50,702,396 V690A probably benign Het
Gnat1 A G 9: 107,677,439 S76P probably damaging Het
Gtf2f2 T C 14: 75,995,445 T94A probably benign Het
Hacd4 A T 4: 88,423,027 W152R probably damaging Het
Kcnh8 A G 17: 52,803,484 Y241C probably damaging Het
Lepr T C 4: 101,782,596 I753T probably damaging Het
Med12l C T 3: 59,248,651 H1162Y probably damaging Het
Med25 C T 7: 44,880,380 A485T probably benign Het
Mup5 A T 4: 61,832,634 S145R probably benign Het
Myo1g A G 11: 6,518,987 V105A probably damaging Het
Npc2 A G 12: 84,760,718 probably null Het
Olfr414 A G 1: 174,430,853 T142A probably benign Het
Olfr648 A G 7: 104,180,291 I39T probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Pop1 T C 15: 34,509,809 V353A probably benign Het
Pou3f2 A G 4: 22,487,536 V199A possibly damaging Het
Ptprm A T 17: 67,042,318 N43K probably damaging Het
Qrsl1 C T 10: 43,882,081 D339N probably damaging Het
Rpl13-ps3 C A 14: 58,893,945 noncoding transcript Het
Sdk2 C T 11: 113,838,646 silent Het
Sdr16c6 A G 4: 4,069,908 V144A probably damaging Het
Spata31d1b C A 13: 59,717,518 H827N probably damaging Het
Taf4b T A 18: 14,821,473 H535Q probably benign Het
Timmdc1 A G 16: 38,522,428 V36A probably benign Het
Tmem74b C T 2: 151,706,419 A22V probably benign Het
Txnrd3 T A 6: 89,650,561 Y65* probably null Het
Vmn1r200 T A 13: 22,395,454 S133R probably damaging Het
Vwf G A 6: 125,590,227 C311Y probably damaging Het
Wipf2 G A 11: 98,896,315 R390H possibly damaging Het
Zfp282 T A 6: 47,904,599 S407T probably benign Het
Other mutations in Elmod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Elmod1 APN 9 53924398 critical splice donor site probably null
IGL01803:Elmod1 APN 9 53931480 missense probably benign 0.01
IGL01966:Elmod1 APN 9 53921327 missense probably benign 0.00
IGL02354:Elmod1 APN 9 53931558 missense probably damaging 1.00
IGL02361:Elmod1 APN 9 53931558 missense probably damaging 1.00
IGL03107:Elmod1 APN 9 53934223 splice site probably benign
IGL03277:Elmod1 APN 9 53925988 missense probably damaging 1.00
R0013:Elmod1 UTSW 9 53912901 splice site probably benign
R0013:Elmod1 UTSW 9 53912901 splice site probably benign
R0243:Elmod1 UTSW 9 53935547 splice site probably benign
R0530:Elmod1 UTSW 9 53925976 missense probably damaging 0.96
R0555:Elmod1 UTSW 9 53931592 splice site probably benign
R0592:Elmod1 UTSW 9 53926106 splice site probably benign
R0670:Elmod1 UTSW 9 53912822 missense probably damaging 0.96
R1195:Elmod1 UTSW 9 53935768 missense probably damaging 1.00
R1195:Elmod1 UTSW 9 53935768 missense probably damaging 1.00
R1195:Elmod1 UTSW 9 53935768 missense probably damaging 1.00
R1875:Elmod1 UTSW 9 53935867 missense probably benign 0.00
R4445:Elmod1 UTSW 9 53934129 missense probably damaging 1.00
R4573:Elmod1 UTSW 9 53925972 missense probably damaging 1.00
R5895:Elmod1 UTSW 9 53935807 missense probably damaging 0.99
R6826:Elmod1 UTSW 9 53919599 missense probably benign 0.02
R7181:Elmod1 UTSW 9 53934098 splice site probably null
R7334:Elmod1 UTSW 9 53934224 splice site probably null
R7422:Elmod1 UTSW 9 53912843 missense probably damaging 0.99
R7964:Elmod1 UTSW 9 53931576 missense probably benign 0.00
R8511:Elmod1 UTSW 9 53912811 missense probably damaging 1.00
Z1088:Elmod1 UTSW 9 53919614 missense probably benign 0.00
Z1176:Elmod1 UTSW 9 53946860 missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGGGTTGATGCTCCAGAAATGGTG -3'
(R):5'- GCAGCTTGGTAGCTTCTACTCCAC -3'

Sequencing Primer
(F):5'- TTGGGGGAATCTTGGAATAATGACC -3'
(R):5'- GGTCTAACTCATCCACTGAGGATTG -3'
Posted On2014-01-05