Incidental Mutation 'IGL00933:Eml3'
ID29514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eml3
Ensembl Gene ENSMUSG00000071647
Gene Nameechinoderm microtubule associated protein like 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.812) question?
Stock #IGL00933
Quality Score
Status
Chromosome19
Chromosomal Location8929552-8941582 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 8936398 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 73 (W73*)
Ref Sequence ENSEMBL: ENSMUSP00000153061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000224272] [ENSMUST00000224642]
Predicted Effect probably null
Transcript: ENSMUST00000096241
AA Change: W435*
SMART Domains Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: W435*

DomainStartEndE-ValueType
coiled coil region 12 47 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
low complexity region 118 139 N/A INTRINSIC
low complexity region 149 168 N/A INTRINSIC
low complexity region 198 208 N/A INTRINSIC
Pfam:HELP 215 286 5.3e-30 PFAM
WD40 295 344 6.34e-2 SMART
Blast:WD40 347 392 5e-22 BLAST
WD40 395 434 1.56e-1 SMART
WD40 450 487 2.64e2 SMART
WD40 504 543 3.33e-1 SMART
WD40 587 626 2.69e-5 SMART
WD40 670 709 1.7e-2 SMART
WD40 716 755 1.52e-4 SMART
WD40 829 869 1.29e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000224272
AA Change: W434*
Predicted Effect probably null
Transcript: ENSMUST00000224642
AA Change: W73*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226096
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 T A 13: 80,891,055 probably benign Het
Brca2 A G 5: 150,542,404 S1878G probably benign Het
Cpa6 T C 1: 10,337,370 H314R probably benign Het
Ehbp1l1 A G 19: 5,717,933 I1114T probably benign Het
Fmo4 G T 1: 162,794,023 Q540K probably benign Het
Fstl4 G A 11: 53,186,761 G782R possibly damaging Het
Itga11 T C 9: 62,769,305 I925T possibly damaging Het
Itsn2 T G 12: 4,707,540 F1411C probably damaging Het
Lmna A T 3: 88,482,549 C590S possibly damaging Het
Magi3 A G 3: 104,015,847 Y1185H probably benign Het
Marf1 A G 16: 14,117,357 Y1516H probably damaging Het
Mast4 T C 13: 102,735,366 D2306G probably damaging Het
Ncoa6 A G 2: 155,415,397 V742A probably damaging Het
Nol4l A G 2: 153,477,936 F175S probably damaging Het
Olfr826 A T 10: 130,180,214 M222K probably benign Het
Orm2 T C 4: 63,364,152 probably benign Het
Pik3cb T A 9: 99,101,286 T90S probably damaging Het
Plekhg2 G A 7: 28,360,689 P1072S probably benign Het
Rgr A T 14: 37,038,918 Y227* probably null Het
Snd1 T C 6: 28,512,986 probably null Het
Zfp560 A G 9: 20,348,808 S253P probably benign Het
Other mutations in Eml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01398:Eml3 APN 19 8934234 splice site probably benign
IGL01904:Eml3 APN 19 8936766 splice site probably benign
IGL02557:Eml3 APN 19 8931381 unclassified probably benign
IGL02795:Eml3 APN 19 8933778 missense probably benign 0.43
IGL03160:Eml3 APN 19 8934955 missense probably benign 0.04
IGL03172:Eml3 APN 19 8939179 unclassified probably benign
IGL03376:Eml3 APN 19 8933790 missense probably damaging 1.00
R0063:Eml3 UTSW 19 8938478 missense probably damaging 1.00
R0063:Eml3 UTSW 19 8938478 missense probably damaging 1.00
R0097:Eml3 UTSW 19 8936651 missense probably benign 0.32
R0097:Eml3 UTSW 19 8936651 missense probably benign 0.32
R0599:Eml3 UTSW 19 8939063 missense probably benign 0.14
R0652:Eml3 UTSW 19 8933285 missense probably damaging 1.00
R0827:Eml3 UTSW 19 8938466 missense probably damaging 0.98
R0841:Eml3 UTSW 19 8937685 missense probably benign
R0880:Eml3 UTSW 19 8940915 missense possibly damaging 0.92
R0924:Eml3 UTSW 19 8933311 critical splice donor site probably null
R1127:Eml3 UTSW 19 8936308 missense probably damaging 0.99
R1156:Eml3 UTSW 19 8934130 missense probably damaging 1.00
R1160:Eml3 UTSW 19 8933250 missense probably benign 0.00
R1427:Eml3 UTSW 19 8933861 missense probably damaging 1.00
R1497:Eml3 UTSW 19 8936369 missense probably damaging 1.00
R1679:Eml3 UTSW 19 8936637 missense probably damaging 0.98
R1931:Eml3 UTSW 19 8937143 missense probably benign 0.43
R2119:Eml3 UTSW 19 8934354 critical splice donor site probably null
R4296:Eml3 UTSW 19 8931409 missense probably damaging 1.00
R5122:Eml3 UTSW 19 8937696 critical splice donor site probably null
R5288:Eml3 UTSW 19 8939274 missense probably damaging 1.00
R5467:Eml3 UTSW 19 8937582 nonsense probably null
R5836:Eml3 UTSW 19 8941295 missense possibly damaging 0.96
R5845:Eml3 UTSW 19 8939218 missense probably damaging 1.00
R5879:Eml3 UTSW 19 8935015 missense possibly damaging 0.77
R5881:Eml3 UTSW 19 8933443 missense probably damaging 1.00
R6011:Eml3 UTSW 19 8939107 missense probably damaging 1.00
R6247:Eml3 UTSW 19 8930949 missense probably benign
R6777:Eml3 UTSW 19 8936722 missense probably benign
R7132:Eml3 UTSW 19 8941028 missense probably benign 0.25
R7169:Eml3 UTSW 19 8933464 missense probably damaging 1.00
R7896:Eml3 UTSW 19 8933807 missense possibly damaging 0.96
R8054:Eml3 UTSW 19 8939050 missense possibly damaging 0.77
R8354:Eml3 UTSW 19 8934994 missense probably damaging 1.00
R8361:Eml3 UTSW 19 8937437 missense possibly damaging 0.94
X0025:Eml3 UTSW 19 8937439 missense probably damaging 0.96
Z1177:Eml3 UTSW 19 8937561 critical splice acceptor site probably null
Posted On2013-04-17