Incidental Mutation 'R0135:Eml2'
ID 21879
Institutional Source Beutler Lab
Gene Symbol Eml2
Ensembl Gene ENSMUSG00000040811
Gene Name echinoderm microtubule associated protein like 2
Synonyms 1600029N02Rik
MMRRC Submission 038420-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0135 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 18910346-18940407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18937877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 582 (S582P)
Ref Sequence ENSEMBL: ENSMUSP00000112447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048502] [ENSMUST00000117338] [ENSMUST00000120595] [ENSMUST00000148246]
AlphaFold Q7TNG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000048502
AA Change: S601P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: S601P

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: S774P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: S774P

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: S582P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: S582P

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 benign
Transcript: ENSMUST00000148246
SMART Domains Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811

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 0.8840 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,515 (GRCm39) F207S probably damaging Het
Abhd8 T A 8: 71,910,718 (GRCm39) K363N probably benign Het
Adam11 T A 11: 102,667,399 (GRCm39) V653E probably damaging Het
Adam18 T C 8: 25,155,558 (GRCm39) S154G possibly damaging Het
Adamts1 T C 16: 85,595,591 (GRCm39) probably benign Het
Afm G T 5: 90,698,181 (GRCm39) V528L probably benign Het
Alox12b C T 11: 69,053,574 (GRCm39) H145Y probably benign Het
Ankmy2 C A 12: 36,220,434 (GRCm39) probably benign Het
Aox3 G A 1: 58,164,247 (GRCm39) probably benign Het
Arhgap28 T C 17: 68,171,583 (GRCm39) D396G probably damaging Het
B430203G13Rik T C 12: 17,974,489 (GRCm39) noncoding transcript Het
Bean1 C T 8: 104,943,807 (GRCm39) P121S probably damaging Het
Bok T C 1: 93,614,229 (GRCm39) S21P probably damaging Het
Brwd1 A C 16: 95,848,304 (GRCm39) N572K probably damaging Het
C5ar1 A T 7: 15,982,864 (GRCm39) V52E probably damaging Het
Cblif G T 19: 11,735,118 (GRCm39) C246F probably damaging Het
Cdr2l C A 11: 115,284,497 (GRCm39) P278T probably damaging Het
Cnga4 T A 7: 105,056,055 (GRCm39) I219N probably damaging Het
Cpne2 C T 8: 95,281,553 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,379 (GRCm39) S1057P possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dgcr2 A G 16: 17,676,306 (GRCm39) S152P probably damaging Het
Dstyk A T 1: 132,390,672 (GRCm39) D828V probably damaging Het
Engase T C 11: 118,375,304 (GRCm39) Y359H possibly damaging Het
Fat3 T C 9: 15,918,073 (GRCm39) D1450G probably damaging Het
Fbxw8 A T 5: 118,208,552 (GRCm39) I467N probably damaging Het
Fhdc1 A T 3: 84,352,925 (GRCm39) Y767N probably damaging Het
Flii T C 11: 60,614,204 (GRCm39) D105G probably damaging Het
Gaa C T 11: 119,169,716 (GRCm39) T590I probably benign Het
Gabrr1 T A 4: 33,160,224 (GRCm39) S303T probably damaging Het
Garre1 T C 7: 33,945,382 (GRCm39) I499M probably damaging Het
Glp1r A G 17: 31,143,551 (GRCm39) I196V probably benign Het
Grm6 G A 11: 50,744,050 (GRCm39) E174K probably damaging Het
Helz2 A C 2: 180,874,062 (GRCm39) L2144R probably damaging Het
Itpr1 A T 6: 108,465,443 (GRCm39) probably benign Het
Kcns1 A T 2: 164,006,875 (GRCm39) S363T possibly damaging Het
Kif13a A T 13: 46,947,419 (GRCm39) V855E probably damaging Het
Krt42 T C 11: 100,153,985 (GRCm39) T424A possibly damaging Het
Lct A T 1: 128,212,860 (GRCm39) F1931Y probably damaging Het
Lrp1b A T 2: 41,159,251 (GRCm39) V1563E probably damaging Het
Lrrc37 C A 11: 103,508,873 (GRCm39) probably benign Het
Lzts2 T C 19: 45,014,626 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,456,932 (GRCm39) R615Q possibly damaging Het
Mei1 C T 15: 81,956,170 (GRCm39) Q133* probably null Het
Mif4gd T C 11: 115,499,291 (GRCm39) E197G probably damaging Het
Ncdn A T 4: 126,640,462 (GRCm39) S544T probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Or52a5 T A 7: 103,426,970 (GRCm39) D194V probably damaging Het
Padi6 T C 4: 140,464,663 (GRCm39) T114A probably benign Het
Pigk G T 3: 152,450,343 (GRCm39) probably benign Het
Pkd1 T A 17: 24,784,045 (GRCm39) F197Y possibly damaging Het
Pld5 A T 1: 175,798,155 (GRCm39) F415I probably damaging Het
Pnpla5 A G 15: 83,998,150 (GRCm39) L364P probably damaging Het
Prrc2c G A 1: 162,543,052 (GRCm39) probably benign Het
Rab32 C T 10: 10,426,584 (GRCm39) D121N probably damaging Het
Rab44 A T 17: 29,357,106 (GRCm39) T79S probably benign Het
Reln G T 5: 22,333,647 (GRCm39) N258K probably damaging Het
Retsat A G 6: 72,579,755 (GRCm39) T177A probably damaging Het
Serpinf2 T A 11: 75,327,219 (GRCm39) H236L probably damaging Het
Slc26a6 A T 9: 108,737,794 (GRCm39) probably benign Het
Slitrk1 T A 14: 109,149,061 (GRCm39) E550V probably benign Het
Smarcd3 A T 5: 24,800,497 (GRCm39) probably benign Het
Spdye4a A C 5: 143,210,857 (GRCm39) probably null Het
Susd2 C T 10: 75,474,348 (GRCm39) G572D probably damaging Het
Tcaf3 C T 6: 42,566,692 (GRCm39) R799K probably benign Het
Tg A G 15: 66,566,719 (GRCm39) S1256G probably benign Het
Them4 A T 3: 94,230,877 (GRCm39) probably benign Het
Tmem210 C T 2: 25,178,480 (GRCm39) A47V probably damaging Het
Tnfrsf1b A G 4: 144,955,616 (GRCm39) Y47H probably benign Het
Tnik T G 3: 28,661,394 (GRCm39) N598K possibly damaging Het
Ttc3 A G 16: 94,263,127 (GRCm39) N1498D possibly damaging Het
Ttll4 C A 1: 74,719,087 (GRCm39) H313N possibly damaging Het
Vipr2 A G 12: 116,106,447 (GRCm39) I348V probably benign Het
Vps13a A G 19: 16,758,129 (GRCm39) V2A probably damaging Het
Vps72 G A 3: 95,026,508 (GRCm39) R151K probably damaging Het
Zfp106 A G 2: 120,350,968 (GRCm39) V1561A probably damaging Het
Zfp658 C A 7: 43,223,019 (GRCm39) Y431* probably null Het
Zkscan2 T C 7: 123,079,864 (GRCm39) K698E 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
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
R2185:Eml2 UTSW 7 18,927,953 (GRCm39) missense probably damaging 1.00
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'- CCCTCCATAAGTTACCCAAGGAGGTC -3'
(R):5'- CCTGTGCCATGAAGACATCCAATAGC -3'

Sequencing Primer
(F):5'- GAGGTCTTCAACTTTTTTTCTTTTCC -3'
(R):5'- tgagagggcagaaaagcac -3'
Posted On 2013-04-12