Incidental Mutation 'R6273:Eml2'
ID 507460
Institutional Source Beutler Lab
Gene Symbol Eml2
Ensembl Gene ENSMUSG00000040811
Gene Name echinoderm microtubule associated protein like 2
Synonyms 1600029N02Rik
MMRRC Submission 044443-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6273 (G1)
Quality Score 95.0077
Status Validated
Chromosome 7
Chromosomal Location 18910346-18940407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18935088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 432 (V432I)
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: V451I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: V451I

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: V624I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: V624I

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: V432I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: V432I

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 0.2533 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (78/80)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,561 (GRCm39) I99N probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd31 A G 13: 96,988,181 (GRCm39) I1065V possibly damaging Het
Aox1 A G 1: 58,378,831 (GRCm39) T1027A probably benign Het
Atm G A 9: 53,399,222 (GRCm39) P1593L probably benign Het
Atp13a5 T G 16: 29,167,555 (GRCm39) I132L probably benign Het
BC035044 A G 6: 128,867,852 (GRCm39) probably benign Het
Cadm3 CT C 1: 173,176,691 (GRCm39) probably benign Homo
Car3 C T 3: 14,936,677 (GRCm39) P247S probably benign Het
Ccdc7a T C 8: 129,513,819 (GRCm39) Y160C probably damaging Het
Cd1d1 A G 3: 86,905,564 (GRCm39) V143A probably benign Het
Cemip2 T A 19: 21,779,369 (GRCm39) V393E probably damaging Het
Cog6 A T 3: 52,903,473 (GRCm39) F142I probably damaging Het
Cracd A T 5: 77,005,568 (GRCm39) D643V unknown Het
Crhr1 T G 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Csf1 A G 3: 107,656,479 (GRCm39) V72A probably damaging Het
Cwc15 T A 9: 14,421,537 (GRCm39) I201K probably benign Het
Dgka T C 10: 128,559,515 (GRCm39) K482R probably benign Het
Dnah7b T C 1: 46,281,476 (GRCm39) S2846P possibly damaging Het
Dst T A 1: 34,314,347 (GRCm39) I4199N probably damaging Het
Dusp7 A G 9: 106,251,095 (GRCm39) T407A possibly damaging Het
Fem1a T C 17: 56,564,083 (GRCm39) Y59H possibly damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Filip1 A T 9: 79,723,168 (GRCm39) D1150E probably benign Het
Gabra1 A G 11: 42,031,138 (GRCm39) V264A probably damaging Het
Gm4131 T C 14: 62,702,299 (GRCm39) E223G probably damaging Het
Gon4l T C 3: 88,763,156 (GRCm39) V333A probably damaging Het
Gsk3b A G 16: 38,028,408 (GRCm39) T289A probably benign Het
Hmcn2 T C 2: 31,301,846 (GRCm39) S2912P probably damaging Het
Htr7 A T 19: 36,018,969 (GRCm39) probably benign Het
Ibsp A G 5: 104,458,167 (GRCm39) T235A probably benign Het
Ints13 A T 6: 146,467,179 (GRCm39) D116E probably damaging Het
Irag1 G T 7: 110,470,790 (GRCm39) H848N probably benign Het
Kctd19 T C 8: 106,112,117 (GRCm39) N753S probably benign Het
Mdn1 A G 4: 32,715,979 (GRCm39) N2054D probably benign Het
Mink1 A T 11: 70,502,261 (GRCm39) K880* probably null Het
Myo15b T A 11: 115,753,625 (GRCm39) L824Q possibly damaging Het
Napepld T C 5: 21,870,320 (GRCm39) E366G probably benign Het
Obscn T A 11: 58,967,819 (GRCm39) T2662S possibly damaging Het
Or2g7 T G 17: 38,378,686 (GRCm39) L208R probably damaging Het
Or2n1b T A 17: 38,459,833 (GRCm39) M118K possibly damaging Het
Or4k52 T C 2: 111,611,567 (GRCm39) F301L probably benign Het
Or52p1 A G 7: 104,267,102 (GRCm39) D72G probably damaging Het
Or5b12 A G 19: 12,896,764 (GRCm39) V303A probably benign Het
Or6d13 A G 6: 116,518,277 (GRCm39) T288A possibly damaging Het
Pah T C 10: 87,412,077 (GRCm39) probably null Het
Panx3 T G 9: 37,578,725 (GRCm39) I85L probably benign Het
Pate4 T C 9: 35,519,086 (GRCm39) N94D probably benign Het
Pde4d A G 13: 110,086,755 (GRCm39) M610V possibly damaging Het
Pik3c2b T C 1: 132,994,449 (GRCm39) S138P probably benign Het
Pkn1 T C 8: 84,398,899 (GRCm39) N696S probably damaging Het
Plppr2 A G 9: 21,855,801 (GRCm39) E258G probably damaging Het
Plxnd1 A T 6: 115,955,453 (GRCm39) M538K probably damaging Het
Prepl G T 17: 85,390,696 (GRCm39) N87K probably benign Het
Prkag2 C A 5: 25,152,534 (GRCm39) R190L probably damaging Het
Rara A G 11: 98,861,048 (GRCm39) T179A probably benign Het
Rfx7 A G 9: 72,524,279 (GRCm39) K490E possibly damaging Het
Rgsl1 C T 1: 153,703,211 (GRCm39) V147M possibly damaging Het
Rph3a A G 5: 121,083,485 (GRCm39) I595T possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc8a2 T C 7: 15,879,259 (GRCm39) F582L possibly damaging Het
Sprr2e A G 3: 92,260,171 (GRCm39) M1V probably null Het
Steap1 T A 5: 5,790,827 (GRCm39) R40S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thsd7a A T 6: 12,408,835 (GRCm39) V729E probably damaging Het
Tmprss13 A G 9: 45,256,630 (GRCm39) Y525C probably damaging Het
Tnik A T 3: 28,631,649 (GRCm39) H383L possibly damaging Het
Vars1 T C 17: 35,232,719 (GRCm39) L881S probably damaging Het
Vmn1r201 A C 13: 22,659,385 (GRCm39) S200R probably damaging Het
Vmn2r130 A T 17: 23,295,759 (GRCm39) H643L probably benign Het
Vmn2r14 A T 5: 109,369,133 (GRCm39) W147R probably benign Het
Vps53 T C 11: 75,992,844 (GRCm39) E367G probably benign Het
Xab2 C T 8: 3,661,822 (GRCm39) G544S probably damaging Het
Ythdf3 T A 3: 16,259,020 (GRCm39) V400E possibly damaging Het
Zfand5 C T 19: 21,257,060 (GRCm39) P147S probably benign Het
Zfp768 A T 7: 126,944,319 (GRCm39) probably null Het
Zswim8 A G 14: 20,763,521 (GRCm39) M423V probably benign 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
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
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'- AGAAATGGGGATGGCTTCTG -3'
(R):5'- CTGTGTGACAGGCTGAGATGAAC -3'

Sequencing Primer
(F):5'- CTTCTGGTGGTTTCTGTAAGGCATC -3'
(R):5'- GGATTGAAGCAGCAGGTT -3'
Posted On 2018-03-15