Incidental Mutation 'R3900:Eml5'
ID 308951
Institutional Source Beutler Lab
Gene Symbol Eml5
Ensembl Gene ENSMUSG00000051166
Gene Name echinoderm microtubule associated protein like 5
Synonyms C130068M19Rik
MMRRC Submission 041607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R3900 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98786805-98901484 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98825523 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1245 (R1245C)
Ref Sequence ENSEMBL: ENSMUSP00000152709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]
AlphaFold Q8BQM8
Predicted Effect possibly damaging
Transcript: ENSMUST00000065716
AA Change: R1206C

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: R1206C

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 unknown
Transcript: ENSMUST00000222128
AA Change: R30C
Predicted Effect probably damaging
Transcript: ENSMUST00000223282
AA Change: R1245C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4341 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,552,968 (GRCm38) S212R probably damaging Het
AI182371 T C 2: 35,085,216 (GRCm38) I334V probably benign Het
Anpep A G 7: 79,839,225 (GRCm38) S372P probably benign Het
Apc2 C A 10: 80,295,972 (GRCm38) probably null Het
Bcl6 T G 16: 23,977,554 (GRCm38) E41A possibly damaging Het
Brpf1 A G 6: 113,318,433 (GRCm38) I674V probably benign Het
Cherp A G 8: 72,469,936 (GRCm38) I201T possibly damaging Het
Cluh A G 11: 74,667,104 (GRCm38) H1056R probably benign Het
Csgalnact2 A T 6: 118,121,014 (GRCm38) F122I probably damaging Het
Cubn C A 2: 13,286,980 (GRCm38) probably null Het
Dnah17 A T 11: 118,094,808 (GRCm38) I1481N possibly damaging Het
Eif2ak4 A G 2: 118,475,029 (GRCm38) Y1561C probably damaging Het
Elfn1 G A 5: 139,971,964 (GRCm38) R241H probably damaging Het
Fchsd2 A G 7: 101,191,799 (GRCm38) K172E possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 (GRCm38) probably null Het
Gm6133 A G 18: 78,350,150 (GRCm38) N120D probably benign Het
Hivep2 C A 10: 14,128,969 (GRCm38) T437K probably benign Het
Igsf9 T C 1: 172,489,558 (GRCm38) L35P probably damaging Het
Khdc3 T C 9: 73,104,346 (GRCm38) probably benign Het
Mmrn2 G T 14: 34,399,560 (GRCm38) probably null Het
Mrgpra1 G T 7: 47,335,527 (GRCm38) R135S possibly damaging Het
Olfr1201 A T 2: 88,794,929 (GRCm38) L182F possibly damaging Het
Olfr971 A G 9: 39,839,402 (GRCm38) probably null Het
Otud3 T C 4: 138,896,885 (GRCm38) N282S probably benign Het
Prkar1a A G 11: 109,661,075 (GRCm38) K130R probably benign Het
Rd3 T C 1: 191,985,256 (GRCm38) V114A probably damaging Het
Rictor T G 15: 6,789,473 (GRCm38) D1392E probably benign Het
Setd2 C T 9: 110,592,518 (GRCm38) R273W probably damaging Het
Slc22a18 C A 7: 143,479,770 (GRCm38) A86E probably damaging Het
Slc24a1 A T 9: 64,928,144 (GRCm38) S900R probably damaging Het
Smarcc1 T C 9: 110,118,518 (GRCm38) probably benign Het
Smoc1 T C 12: 81,167,513 (GRCm38) V234A probably damaging Het
Stard9 A G 2: 120,713,549 (GRCm38) T4443A possibly damaging Het
Timp2 C T 11: 118,303,716 (GRCm38) D139N probably damaging Het
Trim69 A G 2: 122,178,841 (GRCm38) T461A probably benign Het
Ubash3b C T 9: 41,031,564 (GRCm38) D211N probably benign Het
Ubr4 T C 4: 139,479,062 (GRCm38) probably null Het
Ubr5 T C 15: 38,019,242 (GRCm38) D752G probably damaging Het
Urb1 A T 16: 90,783,376 (GRCm38) I633N possibly damaging Het
Usp36 T A 11: 118,279,824 (GRCm38) D28V possibly damaging Het
Wdr6 G A 9: 108,575,769 (GRCm38) A305V probably damaging Het
Zfp248 T C 6: 118,429,566 (GRCm38) N253S 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
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
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'- TTGCTGTAAAGCTGACCAAAAC -3'
(R):5'- GGTACTTACCAATGAAAGCACAAGTG -3'

Sequencing Primer
(F):5'- CTTCTGTAGTTTGAATCAGTGAAGC -3'
(R):5'- TACCAATGAAAGCACAAGTGAATTG -3'
Posted On 2015-04-17