Incidental Mutation 'R7091:Eml5'
ID 550227
Institutional Source Beutler Lab
Gene Symbol Eml5
Ensembl Gene ENSMUSG00000051166
Gene Name echinoderm microtubule associated protein like 5
Synonyms C130068M19Rik
MMRRC Submission 045185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R7091 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 98786805-98901484 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98802474 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 1400 (I1400M)
Ref Sequence ENSEMBL: ENSMUSP00000065643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]
AlphaFold Q8BQM8
Predicted Effect probably benign
Transcript: ENSMUST00000065716
AA Change: I1400M

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: I1400M

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: ENSMUST00000222097
Predicted Effect probably benign
Transcript: ENSMUST00000223282
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik C A 7: 127,384,362 (GRCm38) A523S possibly damaging Het
Abhd18 A C 3: 40,916,738 (GRCm38) I111L probably damaging Het
Ank1 A G 8: 23,058,663 (GRCm38) D11G probably benign Het
Ank2 G T 3: 127,023,351 (GRCm38) Q472K probably damaging Het
Apbb2 A T 5: 66,313,334 (GRCm38) L520H probably damaging Het
Baat T C 4: 49,499,692 (GRCm38) K205E probably benign Het
Brca1 T A 11: 101,526,427 (GRCm38) M294L probably benign Het
Capn1 A G 19: 5,991,556 (GRCm38) M641T possibly damaging Het
Cluap1 T A 16: 3,940,806 (GRCm38) D377E probably benign Het
Col6a2 C T 10: 76,615,091 (GRCm38) V39I unknown Het
Crybg3 T A 16: 59,557,168 (GRCm38) D1241V possibly damaging Het
Dnah10 A G 5: 124,816,142 (GRCm38) K3380R probably benign Het
Fancd2 A G 6: 113,545,101 (GRCm38) D219G probably damaging Het
Fras1 A G 5: 96,708,676 (GRCm38) S1973G probably benign Het
Fsd1 G A 17: 55,993,876 (GRCm38) R245H probably damaging Het
G3bp1 T A 11: 55,496,221 (GRCm38) H271Q possibly damaging Het
Glce A G 9: 62,060,588 (GRCm38) V427A probably damaging Het
Gm4778 T C 3: 94,266,638 (GRCm38) F314L probably damaging Het
Gm5141 T C 13: 62,773,964 (GRCm38) T464A possibly damaging Het
Gulp1 T A 1: 44,766,134 (GRCm38) F128I probably damaging Het
H2-Bl T C 17: 36,083,941 (GRCm38) E30G possibly damaging Het
Hcrtr1 A C 4: 130,130,914 (GRCm38) L393W probably damaging Het
Heg1 T C 16: 33,726,720 (GRCm38) S650P probably benign Het
Hspa4l T A 3: 40,781,592 (GRCm38) N569K probably benign Het
Ifi206 A G 1: 173,473,875 (GRCm38) F746L unknown Het
Ivl T C 3: 92,572,242 (GRCm38) D172G possibly damaging Het
Lrp5 A T 19: 3,630,184 (GRCm38) D433E probably damaging Het
Mgam T C 6: 40,768,276 (GRCm38) S1826P possibly damaging Het
Ms4a18 A T 19: 11,008,728 (GRCm38) L206M probably damaging Het
Msln A T 17: 25,750,080 (GRCm38) C444S probably damaging Het
Mta1 A G 12: 113,136,402 (GRCm38) D644G probably damaging Het
Muc5ac G C 7: 141,809,687 (GRCm38) probably benign Het
Naa15 T C 3: 51,458,756 (GRCm38) probably null Het
Nadk A G 4: 155,587,758 (GRCm38) H302R probably benign Het
Neb T A 2: 52,256,112 (GRCm38) N15I Het
Nup153 A T 13: 46,683,928 (GRCm38) S1273T probably benign Het
Ofcc1 A G 13: 40,072,767 (GRCm38) I763T probably damaging Het
Olfr142 T C 2: 90,252,463 (GRCm38) Y175C probably damaging Het
Oxsr1 T C 9: 119,284,661 (GRCm38) I107V probably benign Het
Prmt5 A G 14: 54,511,342 (GRCm38) probably null Het
Ptk2 G A 15: 73,221,809 (GRCm38) P854S possibly damaging Het
Ranbp6 A G 19: 29,812,716 (GRCm38) S79P probably damaging Het
Reln T C 5: 21,899,029 (GRCm38) I3315V probably null Het
Rnf223 T C 4: 156,132,699 (GRCm38) V177A probably benign Het
Slc20a1 C T 2: 129,208,272 (GRCm38) T450M possibly damaging Het
Smg5 C T 3: 88,351,347 (GRCm38) P542S probably benign Het
Sorl1 T A 9: 42,002,634 (GRCm38) Q1333L probably benign Het
Spag5 T A 11: 78,313,191 (GRCm38) probably null Het
Tdp2 T A 13: 24,838,224 (GRCm38) F209I probably damaging Het
Tgm4 C A 9: 123,040,460 (GRCm38) L35M probably damaging Het
Tma7 A G 9: 109,082,512 (GRCm38) probably benign Het
Tmprss4 A T 9: 45,184,273 (GRCm38) V91D probably damaging Het
Tnfsf4 T A 1: 161,395,697 (GRCm38) M39K probably benign Het
Ttn T A 2: 76,713,568 (GRCm38) T33025S probably benign Het
Tut1 A G 19: 8,965,811 (GRCm38) H754R probably benign Het
Vmn2r27 T G 6: 124,223,945 (GRCm38) Q351P possibly damaging Het
Wee2 G T 6: 40,462,002 (GRCm38) G353V probably benign Het
Zfp879 T A 11: 50,833,395 (GRCm38) H278L 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
R4737:Eml5 UTSW 12 98,798,852 (GRCm38) missense probably damaging 1.00
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
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'- GCCATCTCCAAATGGTTACAGTG -3'
(R):5'- AAATGCTCTTTTCTTGAGAGTGCC -3'

Sequencing Primer
(F):5'- CCAAATGGTTACAGTGTGCTC -3'
(R):5'- GTGCCATTTATAATGTATCCTGAAGG -3'
Posted On 2019-05-15