Incidental Mutation 'R1682:Eml6'
ID 189259
Institutional Source Beutler Lab
Gene Symbol Eml6
Ensembl Gene ENSMUSG00000044072
Gene Name echinoderm microtubule associated protein like 6
Synonyms 2900083P10Rik, C230094A16Rik
MMRRC Submission 039718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R1682 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 29693048-29976033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29709065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 24 (H24L)
Ref Sequence ENSEMBL: ENSMUSP00000116197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000137689]
AlphaFold Q5SQM0
Predicted Effect probably benign
Transcript: ENSMUST00000058902
AA Change: H1452L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: H1452L

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
WD40 49 91 1.79e-1 SMART
WD40 94 136 1.42e-4 SMART
WD40 139 178 5.31e-4 SMART
WD40 184 224 8.84e1 SMART
WD40 225 263 3.75e-4 SMART
WD40 313 353 4.69e-5 SMART
WD40 356 394 2.22e0 SMART
WD40 397 436 1.72e0 SMART
WD40 505 546 1.7e2 SMART
WD40 552 592 4.55e-3 SMART
low complexity region 613 625 N/A INTRINSIC
Pfam:HELP 653 715 1.9e-22 PFAM
WD40 716 757 9.24e-1 SMART
WD40 760 802 6.53e-4 SMART
WD40 805 844 2.98e-1 SMART
WD40 856 891 8.52e1 SMART
WD40 892 929 2.09e-2 SMART
WD40 986 1026 1.18e-1 SMART
WD40 1032 1068 3.44e0 SMART
WD40 1071 1111 2.58e-1 SMART
WD40 1180 1221 9.24e-1 SMART
WD40 1227 1267 3.85e-1 SMART
low complexity region 1280 1291 N/A INTRINSIC
Pfam:HELP 1329 1402 5e-15 PFAM
WD40 1404 1447 2.66e0 SMART
WD40 1450 1492 1.85e0 SMART
WD40 1495 1534 2.97e0 SMART
WD40 1543 1582 7.1e1 SMART
WD40 1584 1629 9.51e1 SMART
WD40 1675 1715 3.05e-4 SMART
WD40 1718 1758 8.84e1 SMART
WD40 1759 1798 7.16e-1 SMART
WD40 1869 1910 1.53e1 SMART
WD40 1916 1956 4.62e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123881
Predicted Effect probably benign
Transcript: ENSMUST00000137689
AA Change: H24L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116197
Gene: ENSMUSG00000044072
AA Change: H24L

DomainStartEndE-ValueType
SCOP:d2bbkh_ 14 72 9e-8 SMART
Blast:WD40 22 64 1e-24 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,283,043 (GRCm39) D2203G probably benign Het
Acin1 A G 14: 54,901,175 (GRCm39) S629P probably damaging Het
Agbl2 T A 2: 90,614,434 (GRCm39) I22N probably benign Het
Ank1 A G 8: 23,599,343 (GRCm39) E796G probably damaging Het
Ankrd13d A G 19: 4,332,961 (GRCm39) L13P probably damaging Het
Ankrd36 T C 11: 5,557,143 (GRCm39) S364P possibly damaging Het
Ap2a1 T C 7: 44,565,362 (GRCm39) T126A probably benign Het
Apob A G 12: 8,062,365 (GRCm39) I3616V probably benign Het
Arl5a A T 2: 52,306,214 (GRCm39) N39K probably benign Het
Baiap2 G A 11: 119,888,366 (GRCm39) R334H probably damaging Het
Bbox1 T A 2: 110,122,893 (GRCm39) N132I possibly damaging Het
Bcl11b A G 12: 107,882,908 (GRCm39) L469P probably damaging Het
Brca1 A G 11: 101,416,391 (GRCm39) I581T probably damaging Het
Cacng2 T C 15: 78,002,997 (GRCm39) Y32C probably damaging Het
Capn9 G T 8: 125,338,304 (GRCm39) probably null Het
Cdh18 A G 15: 23,400,671 (GRCm39) T290A probably benign Het
Cdk5rap2 C T 4: 70,220,387 (GRCm39) V593I possibly damaging Het
Cep128 G C 12: 91,197,596 (GRCm39) D91E probably damaging Het
Cep295 T C 9: 15,245,217 (GRCm39) M1080V probably benign Het
Coq8b T A 7: 26,939,549 (GRCm39) M193K probably benign Het
Csn1s2b A G 5: 87,970,162 (GRCm39) Y131C probably damaging Het
D130043K22Rik T C 13: 25,066,539 (GRCm39) S779P probably damaging Het
Dgat1 C T 15: 76,387,219 (GRCm39) C356Y probably benign Het
Dipk1c A T 18: 84,754,988 (GRCm39) I155F possibly damaging Het
Dnah12 A T 14: 26,500,840 (GRCm39) T1543S possibly damaging Het
Dock3 T C 9: 106,851,040 (GRCm39) S821G probably damaging Het
Dock4 G A 12: 40,775,779 (GRCm39) C574Y probably damaging Het
Dr1 T C 5: 108,417,604 (GRCm39) I50T probably damaging Het
Dzip3 A T 16: 48,778,780 (GRCm39) probably null Het
Eln C A 5: 134,732,636 (GRCm39) *861L probably null Het
Eps8l3 A C 3: 107,798,622 (GRCm39) T503P possibly damaging Het
Fgf1 C A 18: 38,974,985 (GRCm39) D155Y possibly damaging Het
Fkbp15 A T 4: 62,242,431 (GRCm39) M507K probably damaging Het
Flnb A T 14: 7,913,121 (GRCm38) R1463S probably benign Het
Fras1 C T 5: 96,793,732 (GRCm39) T1018I probably benign Het
Gm10803 T A 2: 93,394,533 (GRCm39) C102S probably damaging Het
Gpatch1 C A 7: 35,002,812 (GRCm39) V233L possibly damaging Het
Gramd1a T C 7: 30,842,325 (GRCm39) probably null Het
Gsk3a T C 7: 24,935,133 (GRCm39) T106A possibly damaging Het
Hap1 A G 11: 100,240,302 (GRCm39) V136A possibly damaging Het
Helq A T 5: 100,940,679 (GRCm39) S307T probably benign Het
Herc2 T A 7: 55,738,148 (GRCm39) S264T possibly damaging Het
Htr4 A G 18: 62,561,137 (GRCm39) M133V possibly damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Jakmip2 A G 18: 43,714,896 (GRCm39) probably null Het
Ldhd T A 8: 112,354,745 (GRCm39) S358C possibly damaging Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Ltbp3 A G 19: 5,801,782 (GRCm39) D700G probably benign Het
Magel2 T G 7: 62,029,983 (GRCm39) S962R unknown Het
Map2 A C 1: 66,454,781 (GRCm39) probably null Het
Map3k1 T A 13: 111,893,684 (GRCm39) E704V probably damaging Het
Mrpl39 A T 16: 84,527,347 (GRCm39) V180D probably damaging Het
Myef2 T C 2: 124,939,978 (GRCm39) M383V probably damaging Het
Myh3 A G 11: 66,979,891 (GRCm39) Y610C probably damaging Het
Or10ak7 A G 4: 118,791,778 (GRCm39) L89P probably damaging Het
Or51h1 T C 7: 102,308,904 (GRCm39) V292A probably damaging Het
Or8g54 T A 9: 39,706,954 (GRCm39) Y94* probably null Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pabpc1 T A 15: 36,605,785 (GRCm39) N135I possibly damaging Het
Pcsk6 T A 7: 65,559,976 (GRCm39) H100Q probably damaging Het
Pdss1 A G 2: 22,805,531 (GRCm39) K270E probably damaging Het
Pigx A T 16: 31,906,268 (GRCm39) S18T possibly damaging Het
Plbd2 T A 5: 120,623,849 (GRCm39) T558S probably damaging Het
Plppr1 A T 4: 49,325,617 (GRCm39) probably null Het
Plppr2 T A 9: 21,855,717 (GRCm39) V230E possibly damaging Het
Pola2 A G 19: 6,003,091 (GRCm39) probably null Het
Ppp2r3d A G 9: 101,089,505 (GRCm39) S273P probably benign Het
Prkdc A G 16: 15,494,853 (GRCm39) E741G probably benign Het
Prom2 C A 2: 127,382,082 (GRCm39) V111L possibly damaging Het
Rapgef4 A G 2: 72,056,912 (GRCm39) D557G possibly damaging Het
Rgs10 T C 7: 127,975,694 (GRCm39) T158A probably benign Het
Rnf123 A C 9: 107,954,597 (GRCm39) Y40D probably benign Het
Rnf14 A G 18: 38,441,242 (GRCm39) T211A probably benign Het
Rp1l1 T A 14: 64,266,417 (GRCm39) S668T probably damaging Het
Sema6d T A 2: 124,507,069 (GRCm39) L946Q probably benign Het
Sgcd T G 11: 47,085,869 (GRCm39) K94Q probably benign Het
Skor2 A T 18: 76,947,211 (GRCm39) D311V unknown Het
Slc34a1 A T 13: 23,996,623 (GRCm39) I43F probably damaging Het
Spdye4c C A 2: 128,434,542 (GRCm39) P40T probably damaging Het
Srp72 C A 5: 77,135,717 (GRCm39) Q216K possibly damaging Het
Tmem62 C T 2: 120,837,538 (GRCm39) T485I probably benign Het
Tmem94 G T 11: 115,681,056 (GRCm39) V432L probably damaging Het
Trio T C 15: 27,744,232 (GRCm39) probably null Het
Uggt2 A T 14: 119,292,055 (GRCm39) D581E probably benign Het
Unc5d T A 8: 29,249,109 (GRCm39) S319C probably damaging Het
Vmn1r211 T C 13: 23,035,813 (GRCm39) I285V probably damaging Het
Vmn2r68 A G 7: 84,882,574 (GRCm39) Y393H possibly damaging Het
Vmn2r99 A C 17: 19,598,207 (GRCm39) N77T probably damaging Het
Other mutations in Eml6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Eml6 APN 11 29,800,816 (GRCm39) critical splice donor site probably null
IGL01407:Eml6 APN 11 29,705,021 (GRCm39) nonsense probably null
IGL01434:Eml6 APN 11 29,769,090 (GRCm39) missense probably damaging 1.00
IGL01578:Eml6 APN 11 29,800,870 (GRCm39) missense probably benign 0.02
IGL01780:Eml6 APN 11 29,755,175 (GRCm39) missense probably benign 0.17
IGL01821:Eml6 APN 11 29,771,699 (GRCm39) missense probably benign 0.00
IGL01837:Eml6 APN 11 29,727,055 (GRCm39) missense probably benign 0.00
IGL01904:Eml6 APN 11 29,788,613 (GRCm39) nonsense probably null
IGL01972:Eml6 APN 11 29,788,451 (GRCm39) missense possibly damaging 0.67
IGL02134:Eml6 APN 11 29,709,066 (GRCm39) missense probably benign 0.13
IGL02192:Eml6 APN 11 29,755,743 (GRCm39) missense probably benign 0.00
IGL02377:Eml6 APN 11 29,727,282 (GRCm39) missense probably damaging 0.98
IGL02584:Eml6 APN 11 29,699,387 (GRCm39) missense probably damaging 0.99
IGL02587:Eml6 APN 11 29,734,236 (GRCm39) missense possibly damaging 0.92
IGL02810:Eml6 APN 11 29,799,016 (GRCm39) missense possibly damaging 0.94
IGL02873:Eml6 APN 11 29,830,700 (GRCm39) missense probably benign 0.10
IGL02880:Eml6 APN 11 29,699,959 (GRCm39) missense probably benign 0.03
IGL03289:Eml6 APN 11 29,745,328 (GRCm39) missense possibly damaging 0.49
IGL03301:Eml6 APN 11 29,714,083 (GRCm39) missense probably benign 0.18
IGL03386:Eml6 APN 11 29,699,934 (GRCm39) missense probably benign
IGL03407:Eml6 APN 11 29,856,330 (GRCm39) missense probably damaging 1.00
PIT4453001:Eml6 UTSW 11 29,752,489 (GRCm39) missense probably damaging 1.00
R0125:Eml6 UTSW 11 29,832,088 (GRCm39) missense probably benign 0.19
R0240:Eml6 UTSW 11 29,742,367 (GRCm39) missense possibly damaging 0.84
R0240:Eml6 UTSW 11 29,742,367 (GRCm39) missense possibly damaging 0.84
R0271:Eml6 UTSW 11 29,798,949 (GRCm39) missense possibly damaging 0.48
R0304:Eml6 UTSW 11 29,727,441 (GRCm39) missense probably benign 0.00
R0415:Eml6 UTSW 11 29,699,392 (GRCm39) missense possibly damaging 0.84
R0449:Eml6 UTSW 11 29,843,213 (GRCm39) missense probably benign 0.01
R0538:Eml6 UTSW 11 29,710,010 (GRCm39) splice site probably benign
R0671:Eml6 UTSW 11 29,755,065 (GRCm39) missense probably benign 0.00
R0766:Eml6 UTSW 11 29,781,219 (GRCm39) splice site probably benign
R0800:Eml6 UTSW 11 29,699,877 (GRCm39) missense probably benign 0.08
R0841:Eml6 UTSW 11 29,727,430 (GRCm39) missense probably benign 0.41
R0879:Eml6 UTSW 11 29,800,816 (GRCm39) critical splice donor site probably null
R1061:Eml6 UTSW 11 29,727,267 (GRCm39) missense probably damaging 1.00
R1145:Eml6 UTSW 11 29,727,430 (GRCm39) missense probably benign 0.41
R1145:Eml6 UTSW 11 29,727,430 (GRCm39) missense probably benign 0.41
R1172:Eml6 UTSW 11 29,699,824 (GRCm39) missense possibly damaging 0.54
R1173:Eml6 UTSW 11 29,699,824 (GRCm39) missense possibly damaging 0.54
R1174:Eml6 UTSW 11 29,699,824 (GRCm39) missense possibly damaging 0.54
R1199:Eml6 UTSW 11 29,705,044 (GRCm39) missense possibly damaging 0.93
R1311:Eml6 UTSW 11 29,781,088 (GRCm39) splice site probably benign
R1312:Eml6 UTSW 11 29,781,219 (GRCm39) splice site probably benign
R1355:Eml6 UTSW 11 29,783,085 (GRCm39) missense probably benign 0.03
R1370:Eml6 UTSW 11 29,783,085 (GRCm39) missense probably benign 0.03
R1457:Eml6 UTSW 11 29,974,459 (GRCm39) missense probably damaging 1.00
R1486:Eml6 UTSW 11 29,755,114 (GRCm39) missense possibly damaging 0.83
R1511:Eml6 UTSW 11 29,768,374 (GRCm39) missense probably damaging 1.00
R1532:Eml6 UTSW 11 29,742,256 (GRCm39) splice site probably null
R1642:Eml6 UTSW 11 29,727,001 (GRCm39) critical splice donor site probably null
R1687:Eml6 UTSW 11 29,783,187 (GRCm39) missense probably damaging 1.00
R1699:Eml6 UTSW 11 29,696,282 (GRCm39) nonsense probably null
R1796:Eml6 UTSW 11 29,831,975 (GRCm39) missense probably benign 0.19
R1797:Eml6 UTSW 11 29,832,041 (GRCm39) missense probably benign 0.09
R1837:Eml6 UTSW 11 29,699,802 (GRCm39) splice site probably null
R1874:Eml6 UTSW 11 29,781,136 (GRCm39) missense probably damaging 0.99
R1967:Eml6 UTSW 11 29,974,545 (GRCm39) missense probably damaging 1.00
R1969:Eml6 UTSW 11 29,783,075 (GRCm39) missense probably benign
R2007:Eml6 UTSW 11 29,798,814 (GRCm39) critical splice donor site probably null
R2012:Eml6 UTSW 11 29,781,128 (GRCm39) missense possibly damaging 0.85
R2198:Eml6 UTSW 11 29,800,935 (GRCm39) missense probably benign 0.01
R2217:Eml6 UTSW 11 29,768,907 (GRCm39) missense probably damaging 1.00
R2218:Eml6 UTSW 11 29,768,907 (GRCm39) missense probably damaging 1.00
R2403:Eml6 UTSW 11 29,752,434 (GRCm39) missense probably benign 0.05
R2520:Eml6 UTSW 11 29,741,993 (GRCm39) missense probably damaging 1.00
R2937:Eml6 UTSW 11 29,783,049 (GRCm39) splice site probably benign
R2938:Eml6 UTSW 11 29,783,049 (GRCm39) splice site probably benign
R3085:Eml6 UTSW 11 29,759,332 (GRCm39) missense probably damaging 0.96
R3236:Eml6 UTSW 11 29,781,097 (GRCm39) critical splice donor site probably null
R3738:Eml6 UTSW 11 29,753,137 (GRCm39) missense probably benign 0.20
R3739:Eml6 UTSW 11 29,753,137 (GRCm39) missense probably benign 0.20
R3752:Eml6 UTSW 11 29,759,360 (GRCm39) missense probably benign 0.06
R3854:Eml6 UTSW 11 29,699,905 (GRCm39) missense possibly damaging 0.76
R3941:Eml6 UTSW 11 29,753,167 (GRCm39) missense probably damaging 0.98
R4034:Eml6 UTSW 11 29,753,137 (GRCm39) missense probably benign 0.20
R4049:Eml6 UTSW 11 29,788,577 (GRCm39) missense probably damaging 1.00
R4108:Eml6 UTSW 11 29,755,136 (GRCm39) missense probably damaging 0.98
R4657:Eml6 UTSW 11 29,755,108 (GRCm39) missense possibly damaging 0.77
R4662:Eml6 UTSW 11 29,727,390 (GRCm39) missense probably damaging 1.00
R4665:Eml6 UTSW 11 29,769,007 (GRCm39) nonsense probably null
R4721:Eml6 UTSW 11 29,788,525 (GRCm39) missense possibly damaging 0.95
R4729:Eml6 UTSW 11 29,783,204 (GRCm39) missense probably damaging 1.00
R4766:Eml6 UTSW 11 29,755,757 (GRCm39) missense probably benign 0.22
R4810:Eml6 UTSW 11 29,705,011 (GRCm39) missense possibly damaging 0.92
R4831:Eml6 UTSW 11 29,727,052 (GRCm39) nonsense probably null
R5035:Eml6 UTSW 11 29,804,187 (GRCm39) missense probably benign 0.00
R5064:Eml6 UTSW 11 29,699,300 (GRCm39) missense probably benign 0.12
R5103:Eml6 UTSW 11 29,800,905 (GRCm39) missense possibly damaging 0.65
R5121:Eml6 UTSW 11 29,694,606 (GRCm39) missense probably benign 0.03
R5161:Eml6 UTSW 11 29,974,467 (GRCm39) missense probably damaging 0.99
R5211:Eml6 UTSW 11 29,804,145 (GRCm39) missense probably benign 0.02
R5268:Eml6 UTSW 11 29,753,108 (GRCm39) missense probably benign 0.15
R5390:Eml6 UTSW 11 29,710,096 (GRCm39) missense probably damaging 1.00
R5529:Eml6 UTSW 11 29,714,126 (GRCm39) missense probably benign 0.04
R6239:Eml6 UTSW 11 29,699,275 (GRCm39) missense probably damaging 1.00
R6326:Eml6 UTSW 11 29,769,066 (GRCm39) missense probably damaging 1.00
R6395:Eml6 UTSW 11 29,759,321 (GRCm39) missense probably benign 0.00
R6476:Eml6 UTSW 11 29,741,971 (GRCm39) critical splice donor site probably null
R6483:Eml6 UTSW 11 29,699,875 (GRCm39) missense probably benign 0.00
R6701:Eml6 UTSW 11 29,735,748 (GRCm39) missense probably damaging 0.98
R6753:Eml6 UTSW 11 29,704,987 (GRCm39) missense probably damaging 1.00
R6809:Eml6 UTSW 11 29,753,161 (GRCm39) missense probably benign 0.23
R6847:Eml6 UTSW 11 29,768,447 (GRCm39) missense probably benign 0.00
R6855:Eml6 UTSW 11 29,701,381 (GRCm39) splice site probably null
R7168:Eml6 UTSW 11 29,788,529 (GRCm39) missense probably benign 0.01
R7175:Eml6 UTSW 11 29,734,231 (GRCm39) missense probably benign 0.00
R7305:Eml6 UTSW 11 29,727,258 (GRCm39) missense probably benign 0.01
R7615:Eml6 UTSW 11 29,752,501 (GRCm39) missense possibly damaging 0.49
R7692:Eml6 UTSW 11 29,703,085 (GRCm39) missense probably damaging 0.98
R7980:Eml6 UTSW 11 29,783,205 (GRCm39) missense probably damaging 1.00
R8026:Eml6 UTSW 11 29,699,973 (GRCm39) missense possibly damaging 0.63
R8046:Eml6 UTSW 11 29,708,981 (GRCm39) missense probably damaging 0.99
R8049:Eml6 UTSW 11 29,843,201 (GRCm39) missense possibly damaging 0.95
R8114:Eml6 UTSW 11 29,704,910 (GRCm39) missense probably damaging 1.00
R8425:Eml6 UTSW 11 29,705,008 (GRCm39) missense probably benign 0.00
R8799:Eml6 UTSW 11 29,708,981 (GRCm39) missense probably benign 0.11
R8945:Eml6 UTSW 11 29,703,110 (GRCm39) missense probably damaging 0.98
R8977:Eml6 UTSW 11 29,734,182 (GRCm39) missense possibly damaging 0.59
R8986:Eml6 UTSW 11 29,755,181 (GRCm39) missense possibly damaging 0.92
R9088:Eml6 UTSW 11 29,768,424 (GRCm39) missense probably damaging 0.96
R9150:Eml6 UTSW 11 29,755,791 (GRCm39) missense probably benign 0.15
R9209:Eml6 UTSW 11 29,781,175 (GRCm39) missense probably damaging 1.00
R9288:Eml6 UTSW 11 29,788,641 (GRCm39) critical splice acceptor site probably null
R9467:Eml6 UTSW 11 29,769,076 (GRCm39) missense probably damaging 0.99
R9481:Eml6 UTSW 11 29,788,641 (GRCm39) critical splice acceptor site probably null
R9534:Eml6 UTSW 11 29,734,155 (GRCm39) missense possibly damaging 0.45
RF037:Eml6 UTSW 11 29,702,549 (GRCm39) critical splice acceptor site probably benign
RF039:Eml6 UTSW 11 29,702,551 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- AGTAGCTCACCAAGGCTTGTGCTC -3'
(R):5'- GCAGCAAATTCCTCAGTGTCTTTCG -3'

Sequencing Primer
(F):5'- TTGCAGCAGGACCCATGAG -3'
(R):5'- ACTGAGGTACCACCATCTCT -3'
Posted On 2014-05-14