Incidental Mutation 'R2042:Eml4'
ID 225148
Institutional Source Beutler Lab
Gene Symbol Eml4
Ensembl Gene ENSMUSG00000032624
Gene Name echinoderm microtubule associated protein like 4
Synonyms 4930443C24Rik
MMRRC Submission 040049-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 83658360-83787790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83755607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 323 (C323R)
Ref Sequence ENSEMBL: ENSMUSP00000107982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049503] [ENSMUST00000096766] [ENSMUST00000112363]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000049503
AA Change: C280R

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: C280R

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 possibly damaging
Transcript: ENSMUST00000096766
AA Change: C392R

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: C392R

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 damaging
Transcript: ENSMUST00000112363
AA Change: C323R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: C323R

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 0.9002 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Fhip1b G T 7: 105,033,328 (GRCm39) Y629* probably null Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Mak A C 13: 41,202,912 (GRCm39) S179A possibly damaging Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Map4k1 T C 7: 28,683,555 (GRCm39) L53P probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
P4ha3 T C 7: 99,949,897 (GRCm39) probably null Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Slc4a7 G A 14: 14,737,386 (GRCm38) V99M probably damaging Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Spta1 G A 1: 174,039,213 (GRCm39) M1185I probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E 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
R0645:Eml4 UTSW 17 83,770,922 (GRCm39) splice site probably benign
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
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'- CTGCTTGGAGAATTGCCTTAC -3'
(R):5'- GTTCCACGCCAGCTTTGAAG -3'

Sequencing Primer
(F):5'- GCTTGGAGAATTGCCTTACATATTTC -3'
(R):5'- ACGCCAGCTTTGAAGGTTTATC -3'
Posted On 2014-08-25