Incidental Mutation 'R4737:Eml5'
ID 359366
Institutional Source Beutler Lab
Gene Symbol Eml5
Ensembl Gene ENSMUSG00000051166
Gene Name echinoderm microtubule associated protein like 5
Synonyms C130068M19Rik
MMRRC Submission 042024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R4737 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98786805-98901484 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98798852 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1566 (V1566M)
Ref Sequence ENSEMBL: ENSMUSP00000065643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]
AlphaFold Q8BQM8
Predicted Effect probably damaging
Transcript: ENSMUST00000065716
AA Change: V1566M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: V1566M

DomainStartEndE-ValueType
Pfam:HELP 1 49 3.3e-21 PFAM
WD40 50 91 6.42e-1 SMART
WD40 94 136 1.08e-4 SMART
WD40 139 178 1.27e-1 SMART
WD40 184 224 2.75e1 SMART
WD40 225 263 2.65e-4 SMART
Blast:WD40 265 312 2e-22 BLAST
WD40 313 353 4.69e-5 SMART
WD40 356 394 2.2e2 SMART
WD40 397 436 8.59e-1 SMART
WD40 444 479 6.6e1 SMART
WD40 505 546 2.74e2 SMART
WD40 552 592 4.8e-2 SMART
low complexity region 609 632 N/A INTRINSIC
Pfam:HELP 656 715 1.4e-20 PFAM
WD40 716 757 1.18e-1 SMART
WD40 760 802 2.84e-4 SMART
WD40 805 844 1.91e1 SMART
WD40 853 891 2.64e2 SMART
WD40 892 929 3.45e-3 SMART
WD40 985 1026 4.55e-3 SMART
WD40 1029 1068 6.39e0 SMART
WD40 1071 1111 5.15e-2 SMART
WD40 1180 1221 1.9e2 SMART
WD40 1227 1267 1.38e0 SMART
low complexity region 1280 1297 N/A INTRINSIC
Pfam:HELP 1335 1410 2.4e-16 PFAM
Blast:WD40 1412 1462 8e-28 BLAST
WD40 1465 1507 1.56e-1 SMART
WD40 1510 1549 2.06e0 SMART
WD40 1558 1597 8.22e1 SMART
WD40 1599 1644 4.26e1 SMART
WD40 1690 1730 2.19e-5 SMART
WD40 1774 1813 5.97e-1 SMART
WD40 1884 1925 2.39e0 SMART
WD40 1931 1971 2.88e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221902
Predicted Effect silent
Transcript: ENSMUST00000222097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222717
Predicted Effect probably damaging
Transcript: ENSMUST00000223282
AA Change: V1613M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2110 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 100% (94/94)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,227,819 (GRCm38) noncoding transcript Het
Acp2 A T 2: 91,210,723 (GRCm38) R419W probably benign Het
Actr5 A G 2: 158,628,071 (GRCm38) N207S probably damaging Het
Afap1 G A 5: 35,961,782 (GRCm38) V254M probably benign Het
Arfgef1 A T 1: 10,189,611 (GRCm38) M544K possibly damaging Het
Arhgap5 A T 12: 52,519,077 (GRCm38) M944L probably benign Het
Bnip3l-ps G A 12: 18,216,772 (GRCm38) noncoding transcript Het
Carf A G 1: 60,109,318 (GRCm38) T58A probably benign Het
Carns1 A G 19: 4,170,928 (GRCm38) probably benign Het
Ccp110 T A 7: 118,724,548 (GRCm38) I670K possibly damaging Het
Cftr T A 6: 18,299,883 (GRCm38) D1218E probably benign Het
Chrna9 A T 5: 65,967,871 (GRCm38) T52S probably damaging Het
Chst9 T C 18: 15,452,777 (GRCm38) Y243C probably damaging Het
Clk2 A T 3: 89,168,709 (GRCm38) H62L probably benign Het
Cntnap2 A T 6: 45,060,317 (GRCm38) R10W possibly damaging Het
Cpt1b C T 15: 89,421,406 (GRCm38) D369N probably benign Het
Crhr2 G T 6: 55,091,305 (GRCm38) H423Q probably damaging Het
D8Ertd738e T A 8: 84,249,521 (GRCm38) I33F probably damaging Het
Dbt T C 3: 116,539,132 (GRCm38) I200T probably damaging Het
Ddhd1 A T 14: 45,628,821 (GRCm38) probably benign Het
Ddx27 A G 2: 167,029,299 (GRCm38) I480V probably benign Het
Dpp9 A C 17: 56,198,970 (GRCm38) probably null Het
Dpy19l3 A T 7: 35,703,501 (GRCm38) M562K probably damaging Het
Dus3l T C 17: 56,767,868 (GRCm38) L330P probably damaging Het
Efcab7 C T 4: 99,831,568 (GRCm38) Q96* probably null Het
Egfr T C 11: 16,869,231 (GRCm38) F254L probably damaging Het
Entpd7 T A 19: 43,691,195 (GRCm38) Y62* probably null Het
Erbb4 T C 1: 68,343,900 (GRCm38) M313V probably damaging Het
Gm5528 A G 1: 72,004,552 (GRCm38) noncoding transcript Het
H2-M9 G T 17: 36,640,739 (GRCm38) Y281* probably null Het
Hmcn1 T G 1: 150,689,595 (GRCm38) K2260N possibly damaging Het
Hnf4a A G 2: 163,564,219 (GRCm38) I259V probably benign Het
Ick A G 9: 78,150,654 (GRCm38) T162A probably damaging Het
Insm1 A T 2: 146,222,902 (GRCm38) T213S probably benign Het
Iqca T C 1: 90,077,822 (GRCm38) D488G probably damaging Het
Kdm5a T A 6: 120,406,015 (GRCm38) probably benign Het
Kdm7a G C 6: 39,152,839 (GRCm38) L468V possibly damaging Het
Lck G A 4: 129,555,984 (GRCm38) T229I possibly damaging Het
Lig3 T C 11: 82,787,727 (GRCm38) L265P probably damaging Het
Lipa T A 19: 34,501,634 (GRCm38) K229* probably null Het
Lrrk1 C T 7: 66,306,873 (GRCm38) S418N probably benign Het
Mark2 A G 19: 7,281,232 (GRCm38) V126A probably damaging Het
Met T C 6: 17,491,541 (GRCm38) C101R probably damaging Het
Mkln1 A T 6: 31,426,799 (GRCm38) K85M probably damaging Het
Mst1 A G 9: 108,080,521 (GRCm38) R15G probably benign Het
Muc6 T G 7: 141,640,159 (GRCm38) probably benign Het
Muc6 G T 7: 141,638,772 (GRCm38) T1996N possibly damaging Het
Myo7b T C 18: 31,998,602 (GRCm38) S514G probably damaging Het
Narfl A T 17: 25,781,309 (GRCm38) H322L probably damaging Het
Nars T C 18: 64,516,427 (GRCm38) E11G probably benign Het
Ogdh T A 11: 6,297,044 (GRCm38) F23I probably benign Het
Olfr1121 T C 2: 87,372,321 (GRCm38) I263T probably damaging Het
Olfr1186 C T 2: 88,526,225 (GRCm38) S214F probably damaging Het
Olfr1238 C T 2: 89,406,486 (GRCm38) V198I probably benign Het
Olfr1272 A G 2: 90,282,381 (GRCm38) S65P probably damaging Het
Olfr584 C T 7: 103,085,914 (GRCm38) A127V probably damaging Het
Olfr825 T A 10: 130,162,838 (GRCm38) T163S probably benign Het
Olfr979 A T 9: 40,000,422 (GRCm38) D268E probably damaging Het
Otub2 T A 12: 103,392,844 (GRCm38) L64Q probably benign Het
Pappa2 T C 1: 158,957,012 (GRCm38) R143G probably benign Het
Patl2 T A 2: 122,125,306 (GRCm38) T250S probably damaging Het
Pcdhac2 C T 18: 37,145,899 (GRCm38) T644I possibly damaging Het
Pi4kb C T 3: 95,004,338 (GRCm38) T690I probably damaging Het
Pla2g4d T C 2: 120,266,790 (GRCm38) Y776C probably benign Het
Plekhh2 C T 17: 84,563,959 (GRCm38) S215L probably benign Het
Psmd2 T G 16: 20,659,815 (GRCm38) probably benign Het
Ptpn21 T C 12: 98,708,844 (GRCm38) E183G probably benign Het
Ptprg T A 14: 12,226,314 (GRCm38) D527E probably damaging Het
Rhobtb1 T A 10: 69,279,497 (GRCm38) probably null Het
Scel T A 14: 103,572,037 (GRCm38) M271K possibly damaging Het
Senp3 A T 11: 69,678,829 (GRCm38) C310* probably null Het
Slc25a3 T C 10: 91,122,188 (GRCm38) T97A possibly damaging Het
Srsf11 A T 3: 158,026,732 (GRCm38) Y82* probably null Het
Tbc1d8 G A 1: 39,402,878 (GRCm38) T211I possibly damaging Het
Tbkbp1 T C 11: 97,148,648 (GRCm38) E145G probably damaging Het
Tln1 T C 4: 43,540,588 (GRCm38) N1471S probably benign Het
Tnn T G 1: 160,146,089 (GRCm38) D236A probably damaging Het
Trmt2a C T 16: 18,251,286 (GRCm38) probably benign Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Ubxn10 G A 4: 138,735,948 (GRCm38) probably benign Het
Ulk4 G A 9: 121,073,872 (GRCm38) Q1180* probably null Het
Usp43 T A 11: 67,855,505 (GRCm38) K1120N probably damaging Het
Uspl1 T A 5: 149,194,339 (GRCm38) L244Q possibly damaging Het
Vmn1r32 T C 6: 66,553,645 (GRCm38) H49R probably damaging Het
Vmn2r4 T C 3: 64,409,963 (GRCm38) D118G probably damaging Het
Vwce A G 19: 10,650,579 (GRCm38) I468V probably benign Het
Zbtb7c G T 18: 76,146,154 (GRCm38) R561L probably benign Het
Zfp956 T C 6: 47,962,542 (GRCm38) S175P probably damaging Het
Other mutations in Eml5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Eml5 APN 12 98,873,209 (GRCm38) splice site probably benign
IGL00473:Eml5 APN 12 98,805,492 (GRCm38) splice site probably benign
IGL01120:Eml5 APN 12 98,844,019 (GRCm38) missense probably benign
IGL01308:Eml5 APN 12 98,802,313 (GRCm38) missense probably damaging 1.00
IGL01790:Eml5 APN 12 98,798,932 (GRCm38) missense probably damaging 1.00
IGL01973:Eml5 APN 12 98,863,280 (GRCm38) missense probably benign
IGL02182:Eml5 APN 12 98,802,322 (GRCm38) missense probably damaging 1.00
IGL02201:Eml5 APN 12 98,794,424 (GRCm38) splice site probably benign
IGL02375:Eml5 APN 12 98,844,087 (GRCm38) missense probably damaging 1.00
IGL02397:Eml5 APN 12 98,790,674 (GRCm38) missense probably benign 0.07
IGL02480:Eml5 APN 12 98,876,243 (GRCm38) missense probably damaging 1.00
IGL02801:Eml5 APN 12 98,817,845 (GRCm38) missense possibly damaging 0.88
IGL02876:Eml5 APN 12 98,858,841 (GRCm38) missense probably damaging 1.00
IGL03104:Eml5 APN 12 98,861,245 (GRCm38) nonsense probably null
IGL03158:Eml5 APN 12 98,827,514 (GRCm38) splice site probably benign
IGL03286:Eml5 APN 12 98,860,503 (GRCm38) missense probably damaging 1.00
IGL03380:Eml5 APN 12 98,874,647 (GRCm38) splice site probably benign
BB010:Eml5 UTSW 12 98,844,020 (GRCm38) missense possibly damaging 0.87
BB020:Eml5 UTSW 12 98,844,020 (GRCm38) missense possibly damaging 0.87
R0573:Eml5 UTSW 12 98,824,772 (GRCm38) splice site probably null
R0624:Eml5 UTSW 12 98,865,479 (GRCm38) missense probably damaging 1.00
R0993:Eml5 UTSW 12 98,861,183 (GRCm38) missense probably benign 0.25
R1073:Eml5 UTSW 12 98,830,973 (GRCm38) missense probably damaging 1.00
R1183:Eml5 UTSW 12 98,792,046 (GRCm38) missense probably benign 0.31
R1352:Eml5 UTSW 12 98,831,003 (GRCm38) splice site probably benign
R1469:Eml5 UTSW 12 98,858,823 (GRCm38) missense probably benign
R1469:Eml5 UTSW 12 98,858,823 (GRCm38) missense probably benign
R1503:Eml5 UTSW 12 98,831,174 (GRCm38) missense probably damaging 0.99
R1538:Eml5 UTSW 12 98,794,276 (GRCm38) missense probably damaging 0.99
R1689:Eml5 UTSW 12 98,830,935 (GRCm38) missense probably damaging 1.00
R1773:Eml5 UTSW 12 98,798,839 (GRCm38) missense probably damaging 1.00
R1775:Eml5 UTSW 12 98,852,704 (GRCm38) splice site probably null
R1791:Eml5 UTSW 12 98,887,056 (GRCm38) missense probably benign 0.31
R1856:Eml5 UTSW 12 98,810,584 (GRCm38) missense probably damaging 1.00
R1919:Eml5 UTSW 12 98,798,839 (GRCm38) missense probably damaging 1.00
R1957:Eml5 UTSW 12 98,859,961 (GRCm38) missense probably damaging 1.00
R1962:Eml5 UTSW 12 98,876,311 (GRCm38) missense probably damaging 0.99
R2033:Eml5 UTSW 12 98,791,386 (GRCm38) missense possibly damaging 0.71
R2035:Eml5 UTSW 12 98,794,266 (GRCm38) missense probably benign 0.33
R2073:Eml5 UTSW 12 98,802,446 (GRCm38) missense probably damaging 0.99
R2143:Eml5 UTSW 12 98,810,605 (GRCm38) missense probably damaging 1.00
R2144:Eml5 UTSW 12 98,810,605 (GRCm38) missense probably damaging 1.00
R2158:Eml5 UTSW 12 98,843,946 (GRCm38) splice site probably benign
R2164:Eml5 UTSW 12 98,887,097 (GRCm38) missense probably damaging 0.99
R2175:Eml5 UTSW 12 98,876,223 (GRCm38) nonsense probably null
R2200:Eml5 UTSW 12 98,825,417 (GRCm38) missense probably damaging 1.00
R2234:Eml5 UTSW 12 98,841,581 (GRCm38) missense probably damaging 1.00
R2504:Eml5 UTSW 12 98,844,105 (GRCm38) missense possibly damaging 0.71
R2871:Eml5 UTSW 12 98,865,401 (GRCm38) missense probably damaging 1.00
R2871:Eml5 UTSW 12 98,865,401 (GRCm38) missense probably damaging 1.00
R2958:Eml5 UTSW 12 98,876,178 (GRCm38) missense possibly damaging 0.74
R3013:Eml5 UTSW 12 98,880,808 (GRCm38) splice site probably null
R3118:Eml5 UTSW 12 98,865,494 (GRCm38) missense probably damaging 0.97
R3735:Eml5 UTSW 12 98,855,989 (GRCm38) missense possibly damaging 0.78
R3856:Eml5 UTSW 12 98,816,024 (GRCm38) missense probably damaging 1.00
R3900:Eml5 UTSW 12 98,825,523 (GRCm38) missense probably damaging 1.00
R3973:Eml5 UTSW 12 98,802,465 (GRCm38) splice site probably benign
R3976:Eml5 UTSW 12 98,802,465 (GRCm38) splice site probably benign
R4105:Eml5 UTSW 12 98,841,548 (GRCm38) splice site probably null
R4107:Eml5 UTSW 12 98,841,548 (GRCm38) splice site probably null
R4108:Eml5 UTSW 12 98,841,548 (GRCm38) splice site probably null
R4109:Eml5 UTSW 12 98,841,548 (GRCm38) splice site probably null
R4258:Eml5 UTSW 12 98,865,434 (GRCm38) missense probably benign 0.01
R4381:Eml5 UTSW 12 98,815,955 (GRCm38) missense possibly damaging 0.93
R4590:Eml5 UTSW 12 98,837,341 (GRCm38) missense possibly damaging 0.91
R4775:Eml5 UTSW 12 98,802,307 (GRCm38) missense probably benign 0.05
R4850:Eml5 UTSW 12 98,790,619 (GRCm38) missense probably damaging 1.00
R5007:Eml5 UTSW 12 98,830,965 (GRCm38) missense probably damaging 1.00
R5092:Eml5 UTSW 12 98,792,616 (GRCm38) missense probably damaging 1.00
R5123:Eml5 UTSW 12 98,874,512 (GRCm38) missense probably damaging 1.00
R5124:Eml5 UTSW 12 98,792,042 (GRCm38) missense probably damaging 1.00
R5273:Eml5 UTSW 12 98,790,688 (GRCm38) missense probably damaging 1.00
R5369:Eml5 UTSW 12 98,858,783 (GRCm38) missense probably damaging 1.00
R5430:Eml5 UTSW 12 98,794,158 (GRCm38) missense probably damaging 1.00
R5748:Eml5 UTSW 12 98,825,555 (GRCm38) missense probably damaging 0.99
R5769:Eml5 UTSW 12 98,790,619 (GRCm38) missense probably damaging 1.00
R5832:Eml5 UTSW 12 98,876,188 (GRCm38) missense probably benign
R6113:Eml5 UTSW 12 98,824,674 (GRCm38) nonsense probably null
R6131:Eml5 UTSW 12 98,861,251 (GRCm38) missense probably damaging 0.99
R6175:Eml5 UTSW 12 98,794,456 (GRCm38) missense possibly damaging 0.69
R6184:Eml5 UTSW 12 98,863,129 (GRCm38) missense possibly damaging 0.53
R6357:Eml5 UTSW 12 98,870,884 (GRCm38) missense probably damaging 0.98
R6375:Eml5 UTSW 12 98,798,868 (GRCm38)
R6528:Eml5 UTSW 12 98,824,637 (GRCm38) missense probably benign 0.18
R6657:Eml5 UTSW 12 98,791,405 (GRCm38) missense probably damaging 0.98
R6717:Eml5 UTSW 12 98,827,506 (GRCm38) missense probably damaging 1.00
R6751:Eml5 UTSW 12 98,865,400 (GRCm38) missense probably damaging 1.00
R6833:Eml5 UTSW 12 98,887,024 (GRCm38) missense probably damaging 1.00
R6834:Eml5 UTSW 12 98,887,024 (GRCm38) missense probably damaging 1.00
R6972:Eml5 UTSW 12 98,876,180 (GRCm38) missense probably benign 0.00
R7091:Eml5 UTSW 12 98,802,474 (GRCm38) missense probably benign 0.16
R7353:Eml5 UTSW 12 98,825,424 (GRCm38) missense
R7644:Eml5 UTSW 12 98,855,944 (GRCm38) missense probably benign 0.05
R7694:Eml5 UTSW 12 98,792,563 (GRCm38) missense probably damaging 0.99
R7842:Eml5 UTSW 12 98,794,135 (GRCm38) missense probably damaging 1.00
R7933:Eml5 UTSW 12 98,844,020 (GRCm38) missense possibly damaging 0.87
R8111:Eml5 UTSW 12 98,792,514 (GRCm38) critical splice donor site probably null
R8198:Eml5 UTSW 12 98,858,886 (GRCm38) nonsense probably null
R8482:Eml5 UTSW 12 98,876,301 (GRCm38) missense probably damaging 1.00
R8732:Eml5 UTSW 12 98,815,959 (GRCm38) missense probably damaging 0.99
R8956:Eml5 UTSW 12 98,852,693 (GRCm38) missense possibly damaging 0.69
R8975:Eml5 UTSW 12 98,810,570 (GRCm38) missense probably damaging 0.99
R9131:Eml5 UTSW 12 98,858,840 (GRCm38) missense probably damaging 1.00
R9258:Eml5 UTSW 12 98,844,117 (GRCm38) missense possibly damaging 0.77
R9261:Eml5 UTSW 12 98,856,028 (GRCm38) missense probably damaging 0.99
R9276:Eml5 UTSW 12 98,798,801 (GRCm38) missense probably damaging 0.99
R9301:Eml5 UTSW 12 98,882,033 (GRCm38) nonsense probably null
R9368:Eml5 UTSW 12 98,796,578 (GRCm38) missense probably benign 0.31
R9392:Eml5 UTSW 12 98,900,940 (GRCm38) missense probably damaging 1.00
R9393:Eml5 UTSW 12 98,876,174 (GRCm38) missense probably benign 0.35
R9449:Eml5 UTSW 12 98,861,295 (GRCm38) missense probably damaging 1.00
R9570:Eml5 UTSW 12 98,815,984 (GRCm38) missense probably benign 0.15
T0722:Eml5 UTSW 12 98,841,582 (GRCm38) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- ATTCAGAGAATCCAGAGTCTACACAG -3'
(R):5'- GCATTCCACCCACATAGAGG -3'

Sequencing Primer
(F):5'- TCCAGAGTCTACACAGATAACAATG -3'
(R):5'- CCCACATAGAGGATGACATCTGTG -3'
Posted On 2015-11-11