Incidental Mutation 'R9368:Eml5'
ID 709153
Institutional Source Beutler Lab
Gene Symbol Eml5
Ensembl Gene ENSMUSG00000051166
Gene Name echinoderm microtubule associated protein like 5
Synonyms C130068M19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R9368 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 98753064-98867743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98762837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1648 (R1648G)
Ref Sequence ENSEMBL: ENSMUSP00000152709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]
AlphaFold Q8BQM8
Predicted Effect probably benign
Transcript: ENSMUST00000065716
AA Change: R1601G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: R1601G

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
AA Change: R1648G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Abcc9 A T 6: 142,640,251 (GRCm39) L79H probably damaging Het
Alb A G 5: 90,623,143 (GRCm39) T601A probably benign Het
Aldh1l2 A T 10: 83,331,816 (GRCm39) L776* probably null Het
Ank3 A G 10: 69,823,329 (GRCm39) K666R Het
Ankrd17 T C 5: 90,391,986 (GRCm39) T1895A possibly damaging Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Ap2a2 T C 7: 141,207,815 (GRCm39) F738L probably benign Het
Ap4m1 T A 5: 138,175,445 (GRCm39) C319* probably null Het
Arsj C T 3: 126,232,745 (GRCm39) T497M probably damaging Het
Begain G T 12: 108,999,918 (GRCm39) S284R probably damaging Het
Bicc1 A T 10: 70,785,917 (GRCm39) N408K probably benign Het
Cacybp T C 1: 160,031,208 (GRCm39) M207V possibly damaging Het
Cct8l1 A G 5: 25,721,336 (GRCm39) D17G probably benign Het
Cd1d1 C A 3: 86,905,939 (GRCm39) probably null Het
Chd3 C T 11: 69,251,200 (GRCm39) C554Y probably damaging Het
Chsy1 A G 7: 65,821,499 (GRCm39) D578G probably damaging Het
Col6a6 T C 9: 105,663,300 (GRCm39) Q79R possibly damaging Het
Cpne4 A T 9: 104,563,738 (GRCm39) R38S probably damaging Het
Cyp3a57 A G 5: 145,318,159 (GRCm39) D380G probably benign Het
Dnah6 A T 6: 72,998,261 (GRCm39) S4054T probably benign Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Fam117b A T 1: 60,020,740 (GRCm39) M537L probably benign Het
Fcrl2 C T 3: 87,164,906 (GRCm39) V207I possibly damaging Het
Ffar1 A G 7: 30,560,457 (GRCm39) S147P probably benign Het
Fgfr3 G A 5: 33,885,216 (GRCm39) R110Q probably benign Het
Frmd6 T A 12: 70,933,865 (GRCm39) probably null Het
Fry A G 5: 150,401,403 (GRCm39) R356G Het
Fsip2 A G 2: 82,811,039 (GRCm39) R2453G possibly damaging Het
Glipr1l3 G A 10: 111,983,923 (GRCm39) T181I probably benign Het
Hoxc10 A G 15: 102,879,382 (GRCm39) I301V possibly damaging Het
Igf2bp2 T A 16: 21,883,895 (GRCm39) D463V probably damaging Het
Ints13 T C 6: 146,467,129 (GRCm39) D194G probably null Het
Kif5c A T 2: 49,622,792 (GRCm39) E548V probably damaging Het
Lrp2 T C 2: 69,357,979 (GRCm39) D350G probably damaging Het
Lrrc61 T C 6: 48,545,245 (GRCm39) S23P possibly damaging Het
Mcpt4 T C 14: 56,299,134 (GRCm39) M35V probably damaging Het
Mical1 T A 10: 41,357,302 (GRCm39) M369K possibly damaging Het
Mre11a T A 9: 14,736,514 (GRCm39) F548L probably benign Het
Muc20 C T 16: 32,614,471 (GRCm39) C302Y possibly damaging Het
Nlgn1 T C 3: 25,488,622 (GRCm39) D571G probably damaging Het
Nup88 T C 11: 70,858,756 (GRCm39) K131E probably damaging Het
Nwd2 A G 5: 63,962,306 (GRCm39) D630G probably damaging Het
Or3a1 A G 11: 74,225,193 (GRCm39) L288P probably damaging Het
Or5h19 C T 16: 58,856,678 (GRCm39) V141M probably benign Het
Or6c212 A T 10: 129,558,881 (GRCm39) C177* probably null Het
Pdzd8 A T 19: 59,289,219 (GRCm39) L727* probably null Het
Pi16 T A 17: 29,546,852 (GRCm39) N475K probably benign Het
Pikfyve G A 1: 65,307,901 (GRCm39) A1826T probably damaging Het
Plxna1 A T 6: 89,314,138 (GRCm39) S768T probably benign Het
Plxnc1 T A 10: 94,700,599 (GRCm39) R656* probably null Het
Poglut1 A G 16: 38,349,850 (GRCm39) W308R probably damaging Het
Prmt9 T G 8: 78,285,663 (GRCm39) V165G probably benign Het
Ptch2 A G 4: 116,961,969 (GRCm39) E102G probably damaging Het
Rpn2 G T 2: 157,141,500 (GRCm39) A303S possibly damaging Het
Rttn A C 18: 89,078,576 (GRCm39) H1334P probably damaging Het
Septin3 A T 15: 82,163,739 (GRCm39) D32V probably damaging Het
Sftpa1 G T 14: 40,854,417 (GRCm39) M1I probably null Het
Slc15a2 G A 16: 36,574,080 (GRCm39) T591I probably benign Het
Slc18a2 C T 19: 59,262,791 (GRCm39) T252I probably benign Het
Smchd1 A G 17: 71,694,071 (GRCm39) F1225L probably damaging Het
Sppl2c G A 11: 104,078,561 (GRCm39) G454S probably damaging Het
Swt1 A G 1: 151,286,767 (GRCm39) S242P possibly damaging Het
Tcaim C A 9: 122,647,928 (GRCm39) H148N probably damaging Het
Tgfbr3l T C 8: 4,299,640 (GRCm39) V141A probably damaging Het
Ticrr A G 7: 79,330,735 (GRCm39) D711G probably damaging Het
Trim45 A T 3: 100,832,319 (GRCm39) Q184L possibly damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Usp25 G A 16: 76,904,843 (GRCm39) R803H probably damaging Het
Vmn2r71 T A 7: 85,273,442 (GRCm39) M752K probably damaging Het
Wdr35 G A 12: 9,071,826 (GRCm39) V893I probably benign Het
Zdhhc7 G T 8: 120,814,494 (GRCm39) P105Q probably damaging Het
Zfp316 A G 5: 143,250,046 (GRCm39) probably null Het
Zfp454 G C 11: 50,764,537 (GRCm39) N298K possibly damaging Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,774,800 (GRCm39) probably benign 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
R1183:Eml5 UTSW 12 98,758,305 (GRCm39) missense probably benign 0.31
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
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'- GCACCACTATGTATCATTAAGTACTGC -3'
(R):5'- AGTGCATTGTGATGAATCATGG -3'

Sequencing Primer
(F):5'- GGCTCAAGGAACACCTTA -3'
(R):5'- TGCTTGTGTCAGAAGAAAA -3'
Posted On 2022-04-18