Incidental Mutation 'IGL02557:Eml3'
ID298361
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: 0.824) question?
Stock #IGL02557
Quality Score
Status
Chromosome19
Chromosomal Location8929552-8941582 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 8931381 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000096242] [ENSMUST00000096243] [ENSMUST00000224272] [ENSMUST00000224642]
Predicted Effect probably benign
Transcript: ENSMUST00000096241
SMART Domains Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647

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 benign
Transcript: ENSMUST00000096242
SMART Domains Protein: ENSMUSP00000093961
Gene: ENSMUSG00000071648

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Tetraspannin 17 291 1e-18 PFAM
low complexity region 331 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096243
SMART Domains Protein: ENSMUSP00000093962
Gene: ENSMUSG00000071649

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 58 75 N/A INTRINSIC
Pfam:Glyco_transf_43 96 312 1.8e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224272
Predicted Effect probably benign
Transcript: ENSMUST00000224642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225054
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,742,707 P222L probably benign Het
AI464131 C T 4: 41,497,900 V577M possibly damaging Het
Alg12 T A 15: 88,816,207 K9* probably null Het
Arhgap20 T C 9: 51,821,273 V119A probably damaging Het
Arhgap45 T C 10: 80,021,638 Y178H probably damaging Het
Atad2 A T 15: 58,122,597 S243T probably benign Het
Atp13a5 A C 16: 29,248,182 F1013V probably benign Het
Atp1a2 T G 1: 172,278,651 T865P possibly damaging Het
Bcas2 T C 3: 103,171,867 probably benign Het
Ccnk T C 12: 108,195,726 S297P unknown Het
Cdk5 A T 5: 24,419,653 S215T probably benign Het
Ciita T A 16: 10,512,015 L798Q probably damaging Het
Clcn2 A G 16: 20,708,464 S584P probably damaging Het
Cntn6 A G 6: 104,774,535 Y384C probably damaging Het
Cyp2b10 T A 7: 25,914,881 V260D probably benign Het
Dsel A T 1: 111,862,570 H78Q probably damaging Het
Fcgr2b C A 1: 170,963,322 probably null Het
Fryl A T 5: 73,098,393 L765Q probably damaging Het
Gas2 T A 7: 51,887,933 M2K probably damaging Het
Gm13941 T C 2: 111,101,156 K44E unknown Het
Gm42878 A G 5: 121,527,131 S205P possibly damaging Het
Hcn3 A T 3: 89,149,871 S473R probably damaging Het
Hnrnpr A G 4: 136,319,506 E65G probably damaging Het
Ints1 A T 5: 139,771,637 V375E probably damaging Het
Lama5 A T 2: 180,190,932 C1642* probably null Het
Lsr T G 7: 30,958,494 E347A possibly damaging Het
Mapre2 C A 18: 23,832,957 T33K probably damaging Het
Myo3b T A 2: 70,255,319 F772I probably benign Het
Nbas T C 12: 13,361,028 V891A probably damaging Het
Neurl4 A T 11: 69,906,335 I583F probably damaging Het
Nsd1 T C 13: 55,312,448 S2163P probably damaging Het
Nup210l T C 3: 90,124,230 Y288H probably damaging Het
Olfr1212 A G 2: 88,958,681 I72V probably benign Het
Olfr1329 T C 4: 118,917,192 T92A probably benign Het
Pak1 A G 7: 97,871,587 E151G probably benign Het
Phtf1 A G 3: 103,998,765 N588D probably damaging Het
Prom2 T C 2: 127,529,471 T756A possibly damaging Het
Ptgfrn C T 3: 101,060,636 probably null Het
Seh1l T C 18: 67,789,413 S279P probably benign Het
Sema3f A T 9: 107,687,212 M35K probably damaging Het
Spesp1 T C 9: 62,273,134 E164G possibly damaging Het
Sprr3 T C 3: 92,457,166 T124A possibly damaging Het
Trim24 A C 6: 37,965,499 probably null Het
Unc79 A G 12: 103,182,159 probably benign Het
Vmn2r77 T A 7: 86,795,134 probably benign Het
Other mutations in Eml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Eml3 APN 19 8936398 nonsense probably null
IGL01398:Eml3 APN 19 8934234 splice site probably benign
IGL01904:Eml3 APN 19 8936766 splice site 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
R7979:Eml3 UTSW 19 8933807 missense possibly damaging 0.96
R8054:Eml3 UTSW 19 8939050 missense possibly damaging 0.77
X0025:Eml3 UTSW 19 8937439 missense probably damaging 0.96
Z1177:Eml3 UTSW 19 8937561 critical splice acceptor site probably null
Posted On2015-04-16