Incidental Mutation 'R1183:Eml5'
ID 101798
Institutional Source Beutler Lab
Gene Symbol Eml5
Ensembl Gene ENSMUSG00000051166
Gene Name echinoderm microtubule associated protein like 5
Synonyms C130068M19Rik
MMRRC Submission 039255-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R1183 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 98753064-98867743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98758305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1874 (I1874V)
Ref Sequence ENSEMBL: ENSMUSP00000152709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057000] [ENSMUST00000065716] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000223282]
AlphaFold Q8BQM8
Predicted Effect probably benign
Transcript: ENSMUST00000057000
SMART Domains Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012

DomainStartEndE-ValueType
low complexity region 298 306 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ZnF_C3H1 440 463 7.16e-1 SMART
ZnF_C3H1 465 484 5.27e1 SMART
ZnF_C3H1 520 542 5.55e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065716
AA Change: I1827V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: I1827V

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 probably benign
Transcript: ENSMUST00000110104
SMART Domains Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012

DomainStartEndE-ValueType
low complexity region 298 306 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ZnF_C3H1 465 488 7.16e-1 SMART
ZnF_C3H1 490 509 5.27e1 SMART
ZnF_C3H1 545 567 5.55e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110105
SMART Domains Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012

DomainStartEndE-ValueType
low complexity region 298 306 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ZnF_C3H1 596 619 7.16e-1 SMART
ZnF_C3H1 621 640 5.27e1 SMART
ZnF_C3H1 676 698 5.55e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221107
Predicted Effect probably benign
Transcript: ENSMUST00000223282
AA Change: I1874V

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222717
Predicted Effect probably benign
Transcript: ENSMUST00000222097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221902
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,768,206 (GRCm39) Y192* probably null Het
Abcc6 T C 7: 45,634,677 (GRCm39) Y1100C probably damaging Het
Adamtsl2 T C 2: 26,974,092 (GRCm39) W132R probably damaging Het
Adgra2 T A 8: 27,604,416 (GRCm39) V497E probably damaging Het
Adtrp T G 13: 41,981,813 (GRCm39) probably benign Het
Alg9 T A 9: 50,700,833 (GRCm39) L201Q possibly damaging Het
Ap4e1 T A 2: 126,856,121 (GRCm39) I84K probably damaging Het
Atrnl1 T C 19: 57,638,725 (GRCm39) S288P probably damaging Het
Bltp1 T A 3: 36,949,452 (GRCm39) L366Q possibly damaging Het
Cacna1a A G 8: 85,306,846 (GRCm39) D1367G probably damaging Het
Card19 C T 13: 49,358,727 (GRCm39) R82Q probably damaging Het
Cep128 T C 12: 91,292,372 (GRCm39) I226V possibly damaging Het
Ces1f A C 8: 93,994,633 (GRCm39) D259E probably benign Het
Ckap5 T A 2: 91,416,611 (GRCm39) M1072K probably benign Het
Dcpp2 T A 17: 24,119,468 (GRCm39) V94D probably benign Het
Dnah2 T C 11: 69,337,474 (GRCm39) D3209G possibly damaging Het
Dsg1c A G 18: 20,416,255 (GRCm39) T719A probably damaging Het
Dsp G A 13: 38,375,716 (GRCm39) W1167* probably null Het
Epg5 A G 18: 78,003,926 (GRCm39) T645A probably damaging Het
F2rl2 T C 13: 95,837,621 (GRCm39) L222S probably damaging Het
Fam114a1 T A 5: 65,191,731 (GRCm39) C495S probably damaging Het
Fbn1 A T 2: 125,163,537 (GRCm39) D2106E probably benign Het
Fgf14 T A 14: 124,913,936 (GRCm39) N65I probably benign Het
Fip1l1 T C 5: 74,755,763 (GRCm39) Y497H probably damaging Het
Fn1 A C 1: 71,625,404 (GRCm39) D2376E probably damaging Het
Foxd2 T C 4: 114,764,662 (GRCm39) T453A possibly damaging Het
Galnt1 G T 18: 24,404,647 (GRCm39) W328L probably damaging Het
Gapt A G 13: 110,490,372 (GRCm39) V97A possibly damaging Het
Gatad1 A G 5: 3,693,707 (GRCm39) V154A possibly damaging Het
Gdf15 A G 8: 71,084,202 (GRCm39) F21L probably benign Het
Igdcc4 T C 9: 65,029,182 (GRCm39) F273S possibly damaging Het
Invs A T 4: 48,421,725 (GRCm39) R786W possibly damaging Het
Itfg1 T G 8: 86,507,152 (GRCm39) E236A probably benign Het
Jak3 A T 8: 72,137,194 (GRCm39) I752F probably damaging Het
Kcnip3 C A 2: 127,306,985 (GRCm39) G144W probably damaging Het
Kctd19 T C 8: 106,109,598 (GRCm39) H925R probably benign Het
Kdr C T 5: 76,107,511 (GRCm39) A1011T probably damaging Het
Kif13b C A 14: 65,019,826 (GRCm39) H1398Q probably benign Het
Lrp4 A T 2: 91,307,864 (GRCm39) probably null Het
Lrtm2 T C 6: 119,297,846 (GRCm39) D65G probably benign Het
Lyz1 A G 10: 117,128,715 (GRCm39) L10P probably damaging Het
Metap2 A T 10: 93,706,046 (GRCm39) N245K probably damaging Het
Mms19 T C 19: 41,943,270 (GRCm39) D297G possibly damaging Het
Mocs3 A G 2: 168,073,573 (GRCm39) D340G possibly damaging Het
Mtfr1l A G 4: 134,256,436 (GRCm39) L243P probably damaging Het
Mtss1 A G 15: 58,842,897 (GRCm39) I105T probably damaging Het
Myo18a T C 11: 77,748,571 (GRCm39) S1967P probably damaging Het
Ncor2 T C 5: 125,100,585 (GRCm39) N2248S possibly damaging Het
Nfatc2 T C 2: 168,432,008 (GRCm39) D35G possibly damaging Het
Nup210l T A 3: 90,067,252 (GRCm39) M764K probably benign Het
Or10a3n A G 7: 108,492,948 (GRCm39) L222P probably damaging Het
Otof T C 5: 30,529,256 (GRCm39) S1753G probably damaging Het
Otog G A 7: 45,939,179 (GRCm39) V2070I probably benign Het
Piezo2 A G 18: 63,219,824 (GRCm39) V961A probably damaging Het
Pofut1 C T 2: 153,103,158 (GRCm39) S169L probably benign Het
Ppp1r10 T A 17: 36,240,335 (GRCm39) S542T possibly damaging Het
Prpf8 T C 11: 75,381,156 (GRCm39) Y219H possibly damaging Het
Ptges3l T C 11: 101,312,731 (GRCm39) D113G possibly damaging Het
Pycr3 G A 15: 75,790,647 (GRCm39) L71F probably benign Het
Ramp3 A G 11: 6,624,867 (GRCm39) K54E possibly damaging Het
Rbpms C A 8: 34,294,100 (GRCm39) Q214H possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo4 C A 9: 37,319,348 (GRCm39) D565E probably damaging Het
S100a1 C T 3: 90,418,641 (GRCm39) V58I probably benign Het
Setx T A 2: 29,070,104 (GRCm39) D2636E probably benign Het
Sun2 A T 15: 79,612,669 (GRCm39) V417E probably damaging Het
Tbccd1 T C 16: 22,660,519 (GRCm39) N99S probably benign Het
Tex15 A G 8: 34,064,893 (GRCm39) D1441G probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Trim32 A G 4: 65,532,628 (GRCm39) Y395C probably benign Het
Trpm2 A G 10: 77,759,398 (GRCm39) Y1129H probably damaging Het
Trpm8 A T 1: 88,275,813 (GRCm39) R470S probably damaging Het
Tsg101 G T 7: 46,539,372 (GRCm39) D389E probably benign Het
Ubn1 T C 16: 4,882,406 (GRCm39) L46P probably damaging Het
Ubr5 T C 15: 37,997,419 (GRCm39) I1745V possibly damaging Het
Usp20 T C 2: 30,901,797 (GRCm39) Y521H probably benign Het
Vmn1r159 A T 7: 22,543,019 (GRCm39) H4Q probably null Het
Vmn2r27 T A 6: 124,177,491 (GRCm39) E504D probably benign Het
Wdr72 A T 9: 74,086,867 (GRCm39) I612F probably benign Het
Zbtb8a T C 4: 129,251,520 (GRCm39) H317R possibly damaging Het
Zfp507 T C 7: 35,494,315 (GRCm39) S243G probably damaging Het
Zfp764 A G 7: 127,005,419 (GRCm39) W73R probably damaging Het
Zmym4 A T 4: 126,819,632 (GRCm39) D90E probably damaging Het
Other mutations in Eml5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Eml5 APN 12 98,839,468 (GRCm39) splice site probably benign
IGL00473:Eml5 APN 12 98,771,751 (GRCm39) splice site probably benign
IGL01120:Eml5 APN 12 98,810,278 (GRCm39) missense probably benign
IGL01308:Eml5 APN 12 98,768,572 (GRCm39) missense probably damaging 1.00
IGL01790:Eml5 APN 12 98,765,191 (GRCm39) missense probably damaging 1.00
IGL01973:Eml5 APN 12 98,829,539 (GRCm39) missense probably benign
IGL02182:Eml5 APN 12 98,768,581 (GRCm39) missense probably damaging 1.00
IGL02201:Eml5 APN 12 98,760,683 (GRCm39) splice site probably benign
IGL02375:Eml5 APN 12 98,810,346 (GRCm39) missense probably damaging 1.00
IGL02397:Eml5 APN 12 98,756,933 (GRCm39) missense probably benign 0.07
IGL02480:Eml5 APN 12 98,842,502 (GRCm39) missense probably damaging 1.00
IGL02801:Eml5 APN 12 98,784,104 (GRCm39) missense possibly damaging 0.88
IGL02876:Eml5 APN 12 98,825,100 (GRCm39) missense probably damaging 1.00
IGL03104:Eml5 APN 12 98,827,504 (GRCm39) nonsense probably null
IGL03158:Eml5 APN 12 98,793,773 (GRCm39) splice site probably benign
IGL03286:Eml5 APN 12 98,826,762 (GRCm39) missense probably damaging 1.00
IGL03380:Eml5 APN 12 98,840,906 (GRCm39) splice site probably benign
BB010:Eml5 UTSW 12 98,810,279 (GRCm39) missense possibly damaging 0.87
BB020:Eml5 UTSW 12 98,810,279 (GRCm39) missense possibly damaging 0.87
R0573:Eml5 UTSW 12 98,791,031 (GRCm39) splice site probably null
R0624:Eml5 UTSW 12 98,831,738 (GRCm39) missense probably damaging 1.00
R0993:Eml5 UTSW 12 98,827,442 (GRCm39) missense probably benign 0.25
R1073:Eml5 UTSW 12 98,797,232 (GRCm39) missense probably damaging 1.00
R1352:Eml5 UTSW 12 98,797,262 (GRCm39) splice site probably benign
R1469:Eml5 UTSW 12 98,825,082 (GRCm39) missense probably benign
R1469:Eml5 UTSW 12 98,825,082 (GRCm39) missense probably benign
R1503:Eml5 UTSW 12 98,797,433 (GRCm39) missense probably damaging 0.99
R1538:Eml5 UTSW 12 98,760,535 (GRCm39) missense probably damaging 0.99
R1689:Eml5 UTSW 12 98,797,194 (GRCm39) missense probably damaging 1.00
R1773:Eml5 UTSW 12 98,765,098 (GRCm39) missense probably damaging 1.00
R1775:Eml5 UTSW 12 98,818,963 (GRCm39) splice site probably null
R1791:Eml5 UTSW 12 98,853,315 (GRCm39) missense probably benign 0.31
R1856:Eml5 UTSW 12 98,776,843 (GRCm39) missense probably damaging 1.00
R1919:Eml5 UTSW 12 98,765,098 (GRCm39) missense probably damaging 1.00
R1957:Eml5 UTSW 12 98,826,220 (GRCm39) missense probably damaging 1.00
R1962:Eml5 UTSW 12 98,842,570 (GRCm39) missense probably damaging 0.99
R2033:Eml5 UTSW 12 98,757,645 (GRCm39) missense possibly damaging 0.71
R2035:Eml5 UTSW 12 98,760,525 (GRCm39) missense probably benign 0.33
R2073:Eml5 UTSW 12 98,768,705 (GRCm39) missense probably damaging 0.99
R2143:Eml5 UTSW 12 98,776,864 (GRCm39) missense probably damaging 1.00
R2144:Eml5 UTSW 12 98,776,864 (GRCm39) missense probably damaging 1.00
R2158:Eml5 UTSW 12 98,810,205 (GRCm39) splice site probably benign
R2164:Eml5 UTSW 12 98,853,356 (GRCm39) missense probably damaging 0.99
R2175:Eml5 UTSW 12 98,842,482 (GRCm39) nonsense probably null
R2200:Eml5 UTSW 12 98,791,676 (GRCm39) missense probably damaging 1.00
R2234:Eml5 UTSW 12 98,807,840 (GRCm39) missense probably damaging 1.00
R2504:Eml5 UTSW 12 98,810,364 (GRCm39) missense possibly damaging 0.71
R2871:Eml5 UTSW 12 98,831,660 (GRCm39) missense probably damaging 1.00
R2871:Eml5 UTSW 12 98,831,660 (GRCm39) missense probably damaging 1.00
R2958:Eml5 UTSW 12 98,842,437 (GRCm39) missense possibly damaging 0.74
R3013:Eml5 UTSW 12 98,847,067 (GRCm39) splice site probably null
R3118:Eml5 UTSW 12 98,831,753 (GRCm39) missense probably damaging 0.97
R3735:Eml5 UTSW 12 98,822,248 (GRCm39) missense possibly damaging 0.78
R3856:Eml5 UTSW 12 98,782,283 (GRCm39) missense probably damaging 1.00
R3900:Eml5 UTSW 12 98,791,782 (GRCm39) missense probably damaging 1.00
R3973:Eml5 UTSW 12 98,768,724 (GRCm39) splice site probably benign
R3976:Eml5 UTSW 12 98,768,724 (GRCm39) splice site probably benign
R4105:Eml5 UTSW 12 98,807,807 (GRCm39) splice site probably null
R4107:Eml5 UTSW 12 98,807,807 (GRCm39) splice site probably null
R4108:Eml5 UTSW 12 98,807,807 (GRCm39) splice site probably null
R4109:Eml5 UTSW 12 98,807,807 (GRCm39) splice site probably null
R4258:Eml5 UTSW 12 98,831,693 (GRCm39) missense probably benign 0.01
R4381:Eml5 UTSW 12 98,782,214 (GRCm39) missense possibly damaging 0.93
R4590:Eml5 UTSW 12 98,803,600 (GRCm39) missense possibly damaging 0.91
R4737:Eml5 UTSW 12 98,765,111 (GRCm39) missense probably damaging 1.00
R4775:Eml5 UTSW 12 98,768,566 (GRCm39) missense probably benign 0.05
R4850:Eml5 UTSW 12 98,756,878 (GRCm39) missense probably damaging 1.00
R5007:Eml5 UTSW 12 98,797,224 (GRCm39) missense probably damaging 1.00
R5092:Eml5 UTSW 12 98,758,875 (GRCm39) missense probably damaging 1.00
R5123:Eml5 UTSW 12 98,840,771 (GRCm39) missense probably damaging 1.00
R5124:Eml5 UTSW 12 98,758,301 (GRCm39) missense probably damaging 1.00
R5273:Eml5 UTSW 12 98,756,947 (GRCm39) missense probably damaging 1.00
R5369:Eml5 UTSW 12 98,825,042 (GRCm39) missense probably damaging 1.00
R5430:Eml5 UTSW 12 98,760,417 (GRCm39) missense probably damaging 1.00
R5748:Eml5 UTSW 12 98,791,814 (GRCm39) missense probably damaging 0.99
R5769:Eml5 UTSW 12 98,756,878 (GRCm39) missense probably damaging 1.00
R5832:Eml5 UTSW 12 98,842,447 (GRCm39) missense probably benign
R6113:Eml5 UTSW 12 98,790,933 (GRCm39) nonsense probably null
R6131:Eml5 UTSW 12 98,827,510 (GRCm39) missense probably damaging 0.99
R6175:Eml5 UTSW 12 98,760,715 (GRCm39) missense possibly damaging 0.69
R6184:Eml5 UTSW 12 98,829,388 (GRCm39) missense possibly damaging 0.53
R6357:Eml5 UTSW 12 98,837,143 (GRCm39) missense probably damaging 0.98
R6375:Eml5 UTSW 12 98,765,127 (GRCm39)
R6528:Eml5 UTSW 12 98,790,896 (GRCm39) missense probably benign 0.18
R6657:Eml5 UTSW 12 98,757,664 (GRCm39) missense probably damaging 0.98
R6717:Eml5 UTSW 12 98,793,765 (GRCm39) missense probably damaging 1.00
R6751:Eml5 UTSW 12 98,831,659 (GRCm39) missense probably damaging 1.00
R6833:Eml5 UTSW 12 98,853,283 (GRCm39) missense probably damaging 1.00
R6834:Eml5 UTSW 12 98,853,283 (GRCm39) missense probably damaging 1.00
R6972:Eml5 UTSW 12 98,842,439 (GRCm39) missense probably benign 0.00
R7091:Eml5 UTSW 12 98,768,733 (GRCm39) missense probably benign 0.16
R7353:Eml5 UTSW 12 98,791,683 (GRCm39) missense
R7644:Eml5 UTSW 12 98,822,203 (GRCm39) missense probably benign 0.05
R7694:Eml5 UTSW 12 98,758,822 (GRCm39) missense probably damaging 0.99
R7842:Eml5 UTSW 12 98,760,394 (GRCm39) missense probably damaging 1.00
R7933:Eml5 UTSW 12 98,810,279 (GRCm39) missense possibly damaging 0.87
R8111:Eml5 UTSW 12 98,758,773 (GRCm39) critical splice donor site probably null
R8198:Eml5 UTSW 12 98,825,145 (GRCm39) nonsense probably null
R8482:Eml5 UTSW 12 98,842,560 (GRCm39) missense probably damaging 1.00
R8732:Eml5 UTSW 12 98,782,218 (GRCm39) missense probably damaging 0.99
R8956:Eml5 UTSW 12 98,818,952 (GRCm39) missense possibly damaging 0.69
R8975:Eml5 UTSW 12 98,776,829 (GRCm39) missense probably damaging 0.99
R9131:Eml5 UTSW 12 98,825,099 (GRCm39) missense probably damaging 1.00
R9258:Eml5 UTSW 12 98,810,376 (GRCm39) missense possibly damaging 0.77
R9261:Eml5 UTSW 12 98,822,287 (GRCm39) missense probably damaging 0.99
R9276:Eml5 UTSW 12 98,765,060 (GRCm39) missense probably damaging 0.99
R9301:Eml5 UTSW 12 98,848,292 (GRCm39) nonsense probably null
R9368:Eml5 UTSW 12 98,762,837 (GRCm39) missense probably benign 0.31
R9392:Eml5 UTSW 12 98,867,199 (GRCm39) missense probably damaging 1.00
R9393:Eml5 UTSW 12 98,842,433 (GRCm39) missense probably benign 0.35
R9449:Eml5 UTSW 12 98,827,554 (GRCm39) missense probably damaging 1.00
R9570:Eml5 UTSW 12 98,782,243 (GRCm39) missense probably benign 0.15
T0722:Eml5 UTSW 12 98,807,841 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- AGACACACAGGCACAGGTGACA -3'
(R):5'- AGGTTTTGCATCCTCATGATGACACA -3'

Sequencing Primer
(F):5'- tgtaaatcaaacctgctagaatcc -3'
(R):5'- GCATCCTCATGATGACACATACAG -3'
Posted On 2014-01-15