Incidental Mutation 'R0645:Eml4'
ID 57102
Institutional Source Beutler Lab
Gene Symbol Eml4
Ensembl Gene ENSMUSG00000032624
Gene Name echinoderm microtubule associated protein like 4
Synonyms 4930443C24Rik
MMRRC Submission 038830-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R0645 (G1)
Quality Score 189
Status Validated
Chromosome 17
Chromosomal Location 83658360-83787790 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 83770922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049503] [ENSMUST00000096766] [ENSMUST00000112363]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000049503
SMART Domains Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624

DomainStartEndE-ValueType
coiled coil region 15 53 N/A INTRINSIC
WD40 197 246 1.79e-1 SMART
Blast:WD40 252 294 3e-19 BLAST
WD40 297 336 5.97e-1 SMART
WD40 345 382 2.96e1 SMART
low complexity region 388 396 N/A INTRINSIC
WD40 397 436 1.48e-2 SMART
WD40 480 519 4.95e-4 SMART
WD40 522 560 7.92e1 SMART
WD40 563 602 5.75e-1 SMART
WD40 609 648 2.69e-5 SMART
WD40 722 762 8.04e-4 SMART
low complexity region 793 805 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096766
SMART Domains Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624

DomainStartEndE-ValueType
coiled coil region 15 53 N/A INTRINSIC
low complexity region 137 155 N/A INTRINSIC
Pfam:HELP 236 308 1.1e-33 PFAM
WD40 309 358 1.79e-1 SMART
Blast:WD40 364 406 4e-20 BLAST
WD40 409 448 5.97e-1 SMART
WD40 457 494 2.96e1 SMART
low complexity region 500 508 N/A INTRINSIC
WD40 509 548 1.48e-2 SMART
WD40 592 631 4.95e-4 SMART
WD40 634 672 7.92e1 SMART
WD40 675 714 5.75e-1 SMART
WD40 721 760 2.69e-5 SMART
WD40 834 874 8.04e-4 SMART
low complexity region 905 917 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112363
SMART Domains Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624

DomainStartEndE-ValueType
coiled coil region 15 53 N/A INTRINSIC
WD40 240 289 1.79e-1 SMART
Blast:WD40 295 337 3e-19 BLAST
WD40 340 379 5.97e-1 SMART
WD40 388 425 2.96e1 SMART
low complexity region 431 439 N/A INTRINSIC
WD40 440 479 1.48e-2 SMART
WD40 523 562 4.95e-4 SMART
WD40 565 603 7.92e1 SMART
WD40 606 645 5.75e-1 SMART
WD40 652 691 2.69e-5 SMART
WD40 765 805 8.04e-4 SMART
low complexity region 836 848 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (94/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 G T 8: 25,162,136 (GRCm39) Y46* probably null Het
Adam26b A C 8: 43,973,524 (GRCm39) C493G probably damaging Het
Ak5 A T 3: 152,359,252 (GRCm39) L182Q probably damaging Het
Akt1s1 T C 7: 44,498,645 (GRCm39) probably benign Het
Amhr2 G T 15: 102,354,863 (GRCm39) G133C probably damaging Het
Btbd9 A T 17: 30,743,941 (GRCm39) L187Q probably damaging Het
Ccdc117 A T 11: 5,484,385 (GRCm39) probably benign Het
Ccdc138 A T 10: 58,411,542 (GRCm39) I637F probably damaging Het
Ccdc162 A G 10: 41,462,407 (GRCm39) probably benign Het
Cdc25b C A 2: 131,033,533 (GRCm39) H157Q probably benign Het
Cdon A G 9: 35,388,379 (GRCm39) probably null Het
Cdt1 G A 8: 123,298,884 (GRCm39) probably benign Het
Cep350 C T 1: 155,816,458 (GRCm39) probably null Het
Cfb T C 17: 35,078,992 (GRCm39) K831R probably benign Het
Cldn4 C A 5: 134,975,645 (GRCm39) probably benign Het
Cntnap5b T C 1: 99,999,767 (GRCm39) probably benign Het
Cyp27b1 T G 10: 126,884,967 (GRCm39) S77A probably benign Het
Dlc1 T C 8: 37,041,203 (GRCm39) D1342G possibly damaging Het
Dlgap4 A G 2: 156,603,799 (GRCm39) H887R probably damaging Het
Duox2 A G 2: 122,123,139 (GRCm39) I503T probably damaging Het
Ermap A G 4: 119,042,888 (GRCm39) S212P probably benign Het
Esrrg T A 1: 187,775,538 (GRCm39) C22S probably benign Het
Evx2 T A 2: 74,488,238 (GRCm39) Y194F possibly damaging Het
Fbn2 T G 18: 58,191,461 (GRCm39) D1554A probably damaging Het
Flrt1 G A 19: 7,074,508 (GRCm39) probably benign Het
Fndc5 A G 4: 129,033,630 (GRCm39) probably benign Het
Frem1 A T 4: 82,907,403 (GRCm39) I837N probably damaging Het
Fzd10 G T 5: 128,679,662 (GRCm39) A461S possibly damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gbp7 A G 3: 142,243,926 (GRCm39) probably null Het
Gm5919 T A 9: 83,765,436 (GRCm39) C91S unknown Het
Gpr31b A T 17: 13,271,093 (GRCm39) C25* probably null Het
Grb10 A G 11: 11,886,755 (GRCm39) S505P probably damaging Het
Grm4 A T 17: 27,654,183 (GRCm39) V542E probably damaging Het
Gsta5 T C 9: 78,206,303 (GRCm39) I75T possibly damaging Het
Hivep3 G A 4: 119,954,531 (GRCm39) R949H possibly damaging Het
Hycc1 C T 5: 24,184,506 (GRCm39) G242D probably damaging Het
Invs A T 4: 48,407,653 (GRCm39) M543L probably benign Het
Kcnk2 T C 1: 188,988,927 (GRCm39) probably null Het
Kdm6b A T 11: 69,295,844 (GRCm39) S808T unknown Het
Klhl30 C T 1: 91,283,228 (GRCm39) R277W probably damaging Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Lingo3 G T 10: 80,671,169 (GRCm39) H254N probably benign Het
Lzts1 A T 8: 69,588,392 (GRCm39) H521Q possibly damaging Het
Map3k19 A C 1: 127,749,919 (GRCm39) I1144S possibly damaging Het
Mast2 T C 4: 116,170,043 (GRCm39) probably benign Het
Mast2 A G 4: 116,165,184 (GRCm39) S1411P probably damaging Het
Mesp1 G T 7: 79,442,328 (GRCm39) S225R possibly damaging Het
Micu1 A G 10: 59,675,503 (GRCm39) T366A possibly damaging Het
Mideas G T 12: 84,205,077 (GRCm39) N834K possibly damaging Het
Mknk2 T C 10: 80,507,742 (GRCm39) probably null Het
Msh5 A G 17: 35,258,199 (GRCm39) L309P probably damaging Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myom2 T A 8: 15,167,698 (GRCm39) D1094E probably damaging Het
Nedd1 T C 10: 92,527,693 (GRCm39) probably null Het
Neu4 T C 1: 93,950,191 (GRCm39) L50S probably damaging Het
Noa1 T C 5: 77,457,722 (GRCm39) Y61C probably benign Het
Nr1h4 A T 10: 89,342,390 (GRCm39) M30K probably benign Het
Nsd3 A G 8: 26,199,096 (GRCm39) I1219V probably benign Het
Nup188 T A 2: 30,233,478 (GRCm39) probably null Het
Or10ag2 T A 2: 87,248,612 (GRCm39) Y71* probably null Het
Or5al5 A G 2: 85,961,378 (GRCm39) S210P probably damaging Het
Or6c208 T A 10: 129,224,162 (GRCm39) I220N possibly damaging Het
Or6k2 A T 1: 173,986,920 (GRCm39) T194S probably benign Het
Pbk G A 14: 66,051,245 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,487,459 (GRCm39) T1848M possibly damaging Het
Pdzd7 C T 19: 45,033,914 (GRCm39) G57R possibly damaging Het
Pik3r4 C A 9: 105,546,386 (GRCm39) probably benign Het
Plce1 A G 19: 38,766,433 (GRCm39) S2153G probably damaging Het
Potefam1 C T 2: 111,044,928 (GRCm39) probably null Het
Pphln1 G A 15: 93,318,192 (GRCm39) V34M possibly damaging Het
Prrc2a T C 17: 35,375,308 (GRCm39) D1114G probably damaging Het
Prss16 T C 13: 22,193,546 (GRCm39) probably benign Het
Rtp3 T C 9: 110,816,168 (GRCm39) K128E probably damaging Het
Scn3a T A 2: 65,355,194 (GRCm39) I241F possibly damaging Het
Setd1a G A 7: 127,386,382 (GRCm39) V336I probably damaging Het
Sfpq A G 4: 126,916,762 (GRCm39) I320V possibly damaging Het
Skint5 A T 4: 113,620,679 (GRCm39) D678E unknown Het
Slc12a9 G A 5: 137,313,638 (GRCm39) P774S probably benign Het
Slc25a54 C G 3: 109,019,481 (GRCm39) L362V possibly damaging Het
Smarcd1 A G 15: 99,605,267 (GRCm39) probably null Het
Spata31e5 T A 1: 28,816,011 (GRCm39) N674Y probably damaging Het
Suco A T 1: 161,661,683 (GRCm39) M916K probably damaging Het
Tiam2 T C 17: 3,564,973 (GRCm39) S1404P possibly damaging Het
Topors T C 4: 40,260,333 (GRCm39) T984A unknown Het
Trabd2b A T 4: 114,443,767 (GRCm39) K308M probably damaging Het
Trmo A T 4: 46,377,083 (GRCm39) probably benign Het
Trpc3 A T 3: 36,725,654 (GRCm39) D107E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uggt2 A C 14: 119,295,010 (GRCm39) Y539D probably benign Het
Wwc2 T G 8: 48,353,674 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,344,109 (GRCm39) D829E possibly damaging Het
Other mutations in Eml4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Eml4 APN 17 83,755,613 (GRCm39) missense probably benign 0.05
IGL00815:Eml4 APN 17 83,758,219 (GRCm39) splice site probably benign
IGL01969:Eml4 APN 17 83,753,409 (GRCm39) missense possibly damaging 0.95
IGL02005:Eml4 APN 17 83,785,132 (GRCm39) splice site probably benign
IGL02273:Eml4 APN 17 83,763,808 (GRCm39) splice site probably null
IGL02318:Eml4 APN 17 83,748,795 (GRCm39) missense probably benign 0.01
IGL02421:Eml4 APN 17 83,785,321 (GRCm39) missense probably benign 0.00
IGL02728:Eml4 APN 17 83,780,568 (GRCm39) splice site probably null
IGL02814:Eml4 APN 17 83,748,791 (GRCm39) nonsense probably null
IGL02900:Eml4 APN 17 83,785,421 (GRCm39) missense probably benign 0.00
IGL03205:Eml4 APN 17 83,761,873 (GRCm39) missense probably damaging 1.00
erring UTSW 17 83,755,646 (GRCm39) missense probably damaging 1.00
R0147:Eml4 UTSW 17 83,729,081 (GRCm39) missense probably damaging 1.00
R0148:Eml4 UTSW 17 83,729,081 (GRCm39) missense probably damaging 1.00
R0440:Eml4 UTSW 17 83,753,487 (GRCm39) critical splice donor site probably null
R0541:Eml4 UTSW 17 83,747,471 (GRCm39) missense probably benign 0.00
R0733:Eml4 UTSW 17 83,761,893 (GRCm39) missense possibly damaging 0.88
R0944:Eml4 UTSW 17 83,785,489 (GRCm39) missense probably benign 0.08
R1071:Eml4 UTSW 17 83,785,468 (GRCm39) nonsense probably null
R1975:Eml4 UTSW 17 83,717,622 (GRCm39) missense probably benign 0.00
R2042:Eml4 UTSW 17 83,755,607 (GRCm39) missense probably damaging 0.97
R2229:Eml4 UTSW 17 83,758,485 (GRCm39) missense probably benign 0.05
R2257:Eml4 UTSW 17 83,785,189 (GRCm39) missense probably damaging 0.99
R2878:Eml4 UTSW 17 83,717,603 (GRCm39) missense probably benign 0.01
R3820:Eml4 UTSW 17 83,780,494 (GRCm39) missense probably damaging 1.00
R4466:Eml4 UTSW 17 83,729,103 (GRCm39) nonsense probably null
R4620:Eml4 UTSW 17 83,768,962 (GRCm39) missense probably benign 0.13
R4657:Eml4 UTSW 17 83,758,377 (GRCm39) nonsense probably null
R4717:Eml4 UTSW 17 83,755,654 (GRCm39) missense probably benign 0.38
R4740:Eml4 UTSW 17 83,717,459 (GRCm39) missense probably damaging 1.00
R5073:Eml4 UTSW 17 83,771,006 (GRCm39) missense probably damaging 1.00
R5699:Eml4 UTSW 17 83,717,514 (GRCm39) missense probably benign 0.16
R5834:Eml4 UTSW 17 83,785,170 (GRCm39) missense probably damaging 1.00
R5944:Eml4 UTSW 17 83,753,472 (GRCm39) missense possibly damaging 0.52
R6044:Eml4 UTSW 17 83,753,379 (GRCm39) missense probably damaging 1.00
R6378:Eml4 UTSW 17 83,755,646 (GRCm39) missense probably damaging 1.00
R6980:Eml4 UTSW 17 83,758,446 (GRCm39) missense probably benign 0.00
R7025:Eml4 UTSW 17 83,732,740 (GRCm39) missense probably benign 0.04
R7037:Eml4 UTSW 17 83,732,756 (GRCm39) missense probably benign 0.04
R7042:Eml4 UTSW 17 83,768,999 (GRCm39) missense probably damaging 0.99
R7192:Eml4 UTSW 17 83,761,890 (GRCm39) missense probably benign 0.01
R7525:Eml4 UTSW 17 83,753,379 (GRCm39) missense probably damaging 1.00
R7548:Eml4 UTSW 17 83,732,766 (GRCm39) missense probably benign 0.18
R7595:Eml4 UTSW 17 83,763,513 (GRCm39) missense probably benign 0.18
R7791:Eml4 UTSW 17 83,781,135 (GRCm39) missense probably benign 0.45
R7866:Eml4 UTSW 17 83,758,126 (GRCm39) missense probably benign 0.00
R7936:Eml4 UTSW 17 83,781,115 (GRCm39) missense possibly damaging 0.65
R8435:Eml4 UTSW 17 83,729,070 (GRCm39) missense possibly damaging 0.78
R8447:Eml4 UTSW 17 83,755,656 (GRCm39) missense probably damaging 0.99
R8698:Eml4 UTSW 17 83,785,345 (GRCm39) missense probably benign
R9026:Eml4 UTSW 17 83,764,479 (GRCm39) missense probably damaging 0.99
R9054:Eml4 UTSW 17 83,734,640 (GRCm39) splice site probably benign
R9630:Eml4 UTSW 17 83,717,572 (GRCm39) missense probably damaging 1.00
R9765:Eml4 UTSW 17 83,747,498 (GRCm39) missense probably damaging 1.00
Z1176:Eml4 UTSW 17 83,753,394 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATCTGATTTAGGAGACGCCACG -3'
(R):5'- ACCATGTCCCAGTTCAGGCATTC -3'

Sequencing Primer
(F):5'- ACGTGGTCAGCTTTGTTCATAAC -3'
(R):5'- GCTATTAGGAGAGTAACAGCTATGTC -3'
Posted On 2013-07-11