Incidental Mutation 'R2185:Eml2'
ID 237820
Institutional Source Beutler Lab
Gene Symbol Eml2
Ensembl Gene ENSMUSG00000040811
Gene Name echinoderm microtubule associated protein like 2
Synonyms 1600029N02Rik
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18910346-18940407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18927953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 254 (Y254C)
Ref Sequence ENSEMBL: ENSMUSP00000112447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048502] [ENSMUST00000117338] [ENSMUST00000120595] [ENSMUST00000148246]
AlphaFold Q7TNG5
Predicted Effect probably damaging
Transcript: ENSMUST00000048502
AA Change: Y273C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: Y273C

DomainStartEndE-ValueType
Pfam:HELP 17 65 4.6e-14 PFAM
WD40 113 162 8.36e-2 SMART
WD40 165 210 9.21e0 SMART
WD40 213 252 7.99e-1 SMART
WD40 258 298 3.7e0 SMART
WD40 301 341 3.58e-1 SMART
WD40 385 424 5.52e-2 SMART
WD40 427 465 1.1e1 SMART
WD40 468 507 4.95e-4 SMART
WD40 514 553 4.62e-4 SMART
WD40 579 620 4.75e1 SMART
WD40 626 666 2.67e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117338
AA Change: Y446C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: Y446C

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
coiled coil region 59 106 N/A INTRINSIC
low complexity region 183 191 N/A INTRINSIC
Pfam:HELP 211 285 3.5e-29 PFAM
WD40 286 335 5.5e-4 SMART
WD40 338 383 5.8e-2 SMART
WD40 386 425 5.2e-3 SMART
WD40 431 471 2.4e-2 SMART
WD40 474 514 2.3e-3 SMART
WD40 558 597 3.6e-4 SMART
WD40 600 638 7.1e-2 SMART
WD40 641 680 3.1e-6 SMART
WD40 687 726 3.1e-6 SMART
WD40 752 793 3e-1 SMART
WD40 799 839 1.7e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120595
AA Change: Y254C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: Y254C

DomainStartEndE-ValueType
WD40 94 154 2.48e0 SMART
WD40 157 196 7.99e-1 SMART
WD40 202 242 3.7e0 SMART
WD40 245 285 3.58e-1 SMART
WD40 329 368 5.52e-2 SMART
WD40 371 409 1.1e1 SMART
WD40 412 451 4.95e-4 SMART
WD40 458 497 4.62e-4 SMART
WD40 523 564 4.75e1 SMART
WD40 570 610 2.67e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148246
AA Change: Y254C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
AA Change: Y254C

DomainStartEndE-ValueType
WD40 94 143 8.36e-2 SMART
WD40 146 191 9.21e0 SMART
WD40 194 233 7.99e-1 SMART
WD40 239 279 3.7e0 SMART
WD40 282 322 3.58e-1 SMART
WD40 366 405 5.52e-2 SMART
Meta Mutation Damage Score 0.3335 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Eml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Eml2 APN 7 18,940,068 (GRCm39) missense probably damaging 1.00
IGL00786:Eml2 APN 7 18,936,507 (GRCm39) missense probably damaging 1.00
IGL01084:Eml2 APN 7 18,924,663 (GRCm39) nonsense probably null
IGL01132:Eml2 APN 7 18,934,464 (GRCm39) missense probably damaging 1.00
IGL01678:Eml2 APN 7 18,920,047 (GRCm39) missense probably benign 0.38
IGL01800:Eml2 APN 7 18,935,122 (GRCm39) intron probably benign
IGL02517:Eml2 APN 7 18,940,055 (GRCm39) missense probably damaging 1.00
IGL02607:Eml2 APN 7 18,940,036 (GRCm39) missense probably damaging 1.00
IGL02676:Eml2 APN 7 18,918,846 (GRCm39) nonsense probably null
IGL03082:Eml2 APN 7 18,935,802 (GRCm39) missense probably damaging 1.00
puffery UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R0628_Eml2_697 UTSW 7 18,935,479 (GRCm39) splice site probably benign
R0040:Eml2 UTSW 7 18,930,539 (GRCm39) missense possibly damaging 0.48
R0135:Eml2 UTSW 7 18,937,877 (GRCm39) missense probably damaging 1.00
R0240:Eml2 UTSW 7 18,918,797 (GRCm39) nonsense probably null
R0240:Eml2 UTSW 7 18,918,797 (GRCm39) nonsense probably null
R0362:Eml2 UTSW 7 18,924,731 (GRCm39) splice site probably null
R0387:Eml2 UTSW 7 18,916,184 (GRCm39) splice site probably null
R0432:Eml2 UTSW 7 18,913,456 (GRCm39) nonsense probably null
R0614:Eml2 UTSW 7 18,936,516 (GRCm39) missense probably damaging 1.00
R0628:Eml2 UTSW 7 18,935,479 (GRCm39) splice site probably benign
R1078:Eml2 UTSW 7 18,913,687 (GRCm39) missense probably benign 0.24
R1531:Eml2 UTSW 7 18,930,179 (GRCm39) missense probably damaging 1.00
R1856:Eml2 UTSW 7 18,927,986 (GRCm39) missense probably damaging 0.97
R1864:Eml2 UTSW 7 18,935,803 (GRCm39) missense probably damaging 1.00
R1937:Eml2 UTSW 7 18,937,889 (GRCm39) missense possibly damaging 0.68
R2032:Eml2 UTSW 7 18,936,480 (GRCm39) missense probably benign 0.03
R2419:Eml2 UTSW 7 18,910,620 (GRCm39) unclassified probably benign
R3821:Eml2 UTSW 7 18,936,911 (GRCm39) missense possibly damaging 0.94
R4199:Eml2 UTSW 7 18,913,364 (GRCm39) missense probably benign 0.00
R4411:Eml2 UTSW 7 18,916,326 (GRCm39) critical splice donor site probably null
R4497:Eml2 UTSW 7 18,913,275 (GRCm39) missense probably damaging 1.00
R4885:Eml2 UTSW 7 18,937,935 (GRCm39) missense probably benign 0.05
R4912:Eml2 UTSW 7 18,927,924 (GRCm39) splice site probably null
R5028:Eml2 UTSW 7 18,913,372 (GRCm39) critical splice donor site probably null
R5192:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5196:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5373:Eml2 UTSW 7 18,913,188 (GRCm39) missense possibly damaging 0.92
R5718:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5719:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5720:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5727:Eml2 UTSW 7 18,924,685 (GRCm39) missense probably damaging 0.99
R5841:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5842:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5843:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5844:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6014:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6015:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6017:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6073:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6075:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6126:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6128:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6129:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6189:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6190:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6258:Eml2 UTSW 7 18,913,289 (GRCm39) splice site probably null
R6273:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6289:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6376:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6378:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6381:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6384:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6394:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6435:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6436:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6437:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6476:Eml2 UTSW 7 18,930,236 (GRCm39) missense probably benign 0.26
R6550:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6551:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6552:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6554:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6572:Eml2 UTSW 7 18,930,539 (GRCm39) missense possibly damaging 0.48
R6598:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6599:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6704:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6705:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6709:Eml2 UTSW 7 18,940,136 (GRCm39) makesense probably null
R6730:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6734:Eml2 UTSW 7 18,934,432 (GRCm39) missense probably benign 0.35
R6742:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6769:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6770:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6864:Eml2 UTSW 7 18,930,206 (GRCm39) missense probably damaging 0.99
R6878:Eml2 UTSW 7 18,934,537 (GRCm39) missense probably benign 0.08
R7045:Eml2 UTSW 7 18,935,504 (GRCm39) missense probably damaging 1.00
R7260:Eml2 UTSW 7 18,934,515 (GRCm39) missense probably benign 0.45
R7478:Eml2 UTSW 7 18,940,066 (GRCm39) nonsense probably null
R7706:Eml2 UTSW 7 18,920,035 (GRCm39) missense possibly damaging 0.79
R7811:Eml2 UTSW 7 18,920,047 (GRCm39) missense probably benign 0.38
R8084:Eml2 UTSW 7 18,915,149 (GRCm39) critical splice donor site probably null
R8337:Eml2 UTSW 7 18,930,161 (GRCm39) missense possibly damaging 0.84
R8414:Eml2 UTSW 7 18,913,220 (GRCm39) missense probably damaging 1.00
R8868:Eml2 UTSW 7 18,927,988 (GRCm39) missense probably benign 0.03
R8934:Eml2 UTSW 7 18,913,738 (GRCm39) missense probably damaging 0.99
R9110:Eml2 UTSW 7 18,925,620 (GRCm39) missense probably benign 0.07
R9131:Eml2 UTSW 7 18,918,751 (GRCm39) missense
R9144:Eml2 UTSW 7 18,935,564 (GRCm39) missense possibly damaging 0.75
R9261:Eml2 UTSW 7 18,913,743 (GRCm39) missense probably benign 0.45
R9285:Eml2 UTSW 7 18,925,568 (GRCm39) missense probably damaging 0.98
R9767:Eml2 UTSW 7 18,920,083 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAAGAGGTTTGTCCCAGGTG -3'
(R):5'- CATGGATTCCACCTGAGCATGG -3'

Sequencing Primer
(F):5'- AGGTGGCCTGAGTCTTTTAGGAG -3'
(R):5'- GATTCCACCTGAGCATGGTTACAG -3'
Posted On 2014-10-02