Incidental Mutation 'R9467:Eml6'
ID 715224
Institutional Source Beutler Lab
Gene Symbol Eml6
Ensembl Gene ENSMUSG00000044072
Gene Name echinoderm microtubule associated protein like 6
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R9467 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 29743048-30026033 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29819076 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 690 (C690S)
Ref Sequence ENSEMBL: ENSMUSP00000051080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000104962]
AlphaFold Q5SQM0
Predicted Effect probably damaging
Transcript: ENSMUST00000058902
AA Change: C690S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: C690S

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 probably benign
Transcript: ENSMUST00000104962
SMART Domains Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157

DomainStartEndE-ValueType
ANK 19 50 1.53e3 SMART
ANK 57 87 1.7e-3 SMART
ANK 99 128 3.6e-2 SMART
ANK 132 162 3.31e-1 SMART
ANK 166 195 8.19e-6 SMART
ANK 199 228 7.83e-3 SMART
ANK 231 260 1.8e-2 SMART
low complexity region 297 306 N/A INTRINSIC
low complexity region 434 445 N/A INTRINSIC
low complexity region 496 507 N/A INTRINSIC
ANK 536 578 8.39e-3 SMART
ANK 582 611 3.91e-3 SMART
Predicted Effect silent
Transcript: ENSMUST00000109452
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik C T 1: 105,741,314 (GRCm38) T1023I probably damaging Het
4933409G03Rik A C 2: 68,593,590 (GRCm38) M46L Het
Aars2 A G 17: 45,516,484 (GRCm38) E484G probably benign Het
Abcd2 C T 15: 91,191,622 (GRCm38) probably benign Het
Acap2 A G 16: 31,111,083 (GRCm38) S361P possibly damaging Het
Arap2 T C 5: 62,730,557 (GRCm38) E482G probably benign Het
Axin2 G T 11: 108,942,956 (GRCm38) L576F possibly damaging Het
B4galt2 T A 4: 117,880,926 (GRCm38) Y161F probably damaging Het
Cbwd1 T A 19: 24,953,320 (GRCm38) M122L possibly damaging Het
Cdh3 A T 8: 106,539,793 (GRCm38) probably null Het
Cfap61 A T 2: 146,129,229 (GRCm38) I920F probably benign Het
Chaf1b T C 16: 93,884,506 (GRCm38) I4T probably benign Het
Clptm1 T C 7: 19,637,524 (GRCm38) N328S probably benign Het
Cthrc1 A G 15: 39,084,294 (GRCm38) N136S probably benign Het
Dlec1 G T 9: 119,142,584 (GRCm38) R1279L probably damaging Het
Dnah5 A T 15: 28,366,147 (GRCm38) T2669S possibly damaging Het
Efcab14 C A 4: 115,753,011 (GRCm38) L190I probably damaging Het
Fignl1 T C 11: 11,801,483 (GRCm38) E524G probably damaging Het
Fmo4 A G 1: 162,803,669 (GRCm38) V243A probably benign Het
Ghr A G 15: 3,328,024 (GRCm38) V254A probably benign Het
Gm21818 C T 13: 120,172,525 (GRCm38) probably benign Het
Gm9008 C T 6: 76,496,632 (GRCm38) E334K probably benign Het
Igkv8-28 A G 6: 70,143,707 (GRCm38) V84A probably damaging Het
Itgb7 T C 15: 102,223,554 (GRCm38) D198G probably damaging Het
Klra2 A G 6: 131,220,107 (GRCm38) probably null Het
Klrc2 A T 6: 129,656,400 (GRCm38) Y230N probably damaging Het
Lacc1 A G 14: 77,029,584 (GRCm38) V413A probably damaging Het
Muc16 T C 9: 18,597,035 (GRCm38) N6355S probably benign Het
Ncor1 CTG CTGGTG 11: 62,433,622 (GRCm38) probably benign Het
Ncor1 AGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTGCTGCTG 11: 62,433,611 (GRCm38) probably benign Het
Ndn A G 7: 62,349,155 (GRCm38) K250E possibly damaging Het
Nicn1 C T 9: 108,294,509 (GRCm38) R163C possibly damaging Het
Nt5e A G 9: 88,367,363 (GRCm38) E450G probably benign Het
Olfr1008 G T 2: 85,690,282 (GRCm38) M284I Het
Olfr1428 A T 19: 12,108,949 (GRCm38) M199K possibly damaging Het
Olfr501-ps1 T A 7: 108,508,583 (GRCm38) *176K probably null Het
Palld A G 8: 61,515,230 (GRCm38) S1343P unknown Het
Pcdha8 T A 18: 36,993,790 (GRCm38) S442T possibly damaging Het
Pole2 T C 12: 69,208,945 (GRCm38) I349V probably benign Het
Ptprb C T 10: 116,322,485 (GRCm38) T487M probably benign Het
Ptprc C T 1: 138,066,222 (GRCm38) D1020N probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,579,913 (GRCm38) probably benign Het
Ryr2 T C 13: 11,556,604 (GRCm38) N4916S possibly damaging Het
Selp C T 1: 164,130,105 (GRCm38) P268S probably damaging Het
Sema7a T A 9: 57,957,325 (GRCm38) C333S probably damaging Het
Sh2b1 CAGCCACGGGGACCAGCT CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT 7: 126,467,582 (GRCm38) probably null Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,467,570 (GRCm38) probably benign Het
Shank1 G A 7: 44,312,918 (GRCm38) S71N unknown Het
Shisa5 G A 9: 109,038,644 (GRCm38) probably benign Het
Snx27 A G 3: 94,582,416 (GRCm38) V45A possibly damaging Het
Srcap T C 7: 127,540,359 (GRCm38) V1284A probably damaging Het
Ssrp1 A G 2: 85,042,266 (GRCm38) D416G probably damaging Het
Tectb A G 19: 55,192,661 (GRCm38) Y144C Het
Thap12 G T 7: 98,710,141 (GRCm38) V76F probably damaging Het
Ticam2 G C 18: 46,560,681 (GRCm38) P113R probably damaging Het
Tsg101 A G 7: 46,909,024 (GRCm38) Y80H probably benign Het
Unc5cl T A 17: 48,463,628 (GRCm38) M368K probably damaging Het
Utp20 G T 10: 88,804,528 (GRCm38) Q717K possibly damaging Het
Vmn1r159 T A 7: 22,842,716 (GRCm38) D297V possibly damaging Het
Vmn2r98 G T 17: 19,067,255 (GRCm38) S450I probably benign Het
Zbtb8b T C 4: 129,432,526 (GRCm38) E282G probably benign Het
Zfp831 T C 2: 174,644,996 (GRCm38) V488A probably benign Het
Zzef1 G A 11: 72,916,425 (GRCm38) V2710I probably damaging Het
Other mutations in Eml6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Eml6 APN 11 29,850,816 (GRCm38) critical splice donor site probably null
IGL01407:Eml6 APN 11 29,755,021 (GRCm38) nonsense probably null
IGL01434:Eml6 APN 11 29,819,090 (GRCm38) missense probably damaging 1.00
IGL01578:Eml6 APN 11 29,850,870 (GRCm38) missense probably benign 0.02
IGL01780:Eml6 APN 11 29,805,175 (GRCm38) missense probably benign 0.17
IGL01821:Eml6 APN 11 29,821,699 (GRCm38) missense probably benign 0.00
IGL01837:Eml6 APN 11 29,777,055 (GRCm38) missense probably benign 0.00
IGL01904:Eml6 APN 11 29,838,613 (GRCm38) nonsense probably null
IGL01972:Eml6 APN 11 29,838,451 (GRCm38) missense possibly damaging 0.67
IGL02134:Eml6 APN 11 29,759,066 (GRCm38) missense probably benign 0.13
IGL02192:Eml6 APN 11 29,805,743 (GRCm38) missense probably benign 0.00
IGL02377:Eml6 APN 11 29,777,282 (GRCm38) missense probably damaging 0.98
IGL02584:Eml6 APN 11 29,749,387 (GRCm38) missense probably damaging 0.99
IGL02587:Eml6 APN 11 29,784,236 (GRCm38) missense possibly damaging 0.92
IGL02810:Eml6 APN 11 29,849,016 (GRCm38) missense possibly damaging 0.94
IGL02873:Eml6 APN 11 29,880,700 (GRCm38) missense probably benign 0.10
IGL02880:Eml6 APN 11 29,749,959 (GRCm38) missense probably benign 0.03
IGL03289:Eml6 APN 11 29,795,328 (GRCm38) missense possibly damaging 0.49
IGL03301:Eml6 APN 11 29,764,083 (GRCm38) missense probably benign 0.18
IGL03386:Eml6 APN 11 29,749,934 (GRCm38) missense probably benign
IGL03407:Eml6 APN 11 29,906,330 (GRCm38) missense probably damaging 1.00
PIT4453001:Eml6 UTSW 11 29,802,489 (GRCm38) missense probably damaging 1.00
R0125:Eml6 UTSW 11 29,882,088 (GRCm38) missense probably benign 0.19
R0240:Eml6 UTSW 11 29,792,367 (GRCm38) missense possibly damaging 0.84
R0240:Eml6 UTSW 11 29,792,367 (GRCm38) missense possibly damaging 0.84
R0271:Eml6 UTSW 11 29,848,949 (GRCm38) missense possibly damaging 0.48
R0304:Eml6 UTSW 11 29,777,441 (GRCm38) missense probably benign 0.00
R0415:Eml6 UTSW 11 29,749,392 (GRCm38) missense possibly damaging 0.84
R0449:Eml6 UTSW 11 29,893,213 (GRCm38) missense probably benign 0.01
R0538:Eml6 UTSW 11 29,760,010 (GRCm38) splice site probably benign
R0671:Eml6 UTSW 11 29,805,065 (GRCm38) missense probably benign 0.00
R0766:Eml6 UTSW 11 29,831,219 (GRCm38) splice site probably benign
R0800:Eml6 UTSW 11 29,749,877 (GRCm38) missense probably benign 0.08
R0841:Eml6 UTSW 11 29,777,430 (GRCm38) missense probably benign 0.41
R0879:Eml6 UTSW 11 29,850,816 (GRCm38) critical splice donor site probably null
R1061:Eml6 UTSW 11 29,777,267 (GRCm38) missense probably damaging 1.00
R1145:Eml6 UTSW 11 29,777,430 (GRCm38) missense probably benign 0.41
R1145:Eml6 UTSW 11 29,777,430 (GRCm38) missense probably benign 0.41
R1172:Eml6 UTSW 11 29,749,824 (GRCm38) missense possibly damaging 0.54
R1173:Eml6 UTSW 11 29,749,824 (GRCm38) missense possibly damaging 0.54
R1174:Eml6 UTSW 11 29,749,824 (GRCm38) missense possibly damaging 0.54
R1199:Eml6 UTSW 11 29,755,044 (GRCm38) missense possibly damaging 0.93
R1311:Eml6 UTSW 11 29,831,088 (GRCm38) splice site probably benign
R1312:Eml6 UTSW 11 29,831,219 (GRCm38) splice site probably benign
R1355:Eml6 UTSW 11 29,833,085 (GRCm38) missense probably benign 0.03
R1370:Eml6 UTSW 11 29,833,085 (GRCm38) missense probably benign 0.03
R1457:Eml6 UTSW 11 30,024,459 (GRCm38) missense probably damaging 1.00
R1486:Eml6 UTSW 11 29,805,114 (GRCm38) missense possibly damaging 0.83
R1511:Eml6 UTSW 11 29,818,374 (GRCm38) missense probably damaging 1.00
R1532:Eml6 UTSW 11 29,792,256 (GRCm38) splice site probably null
R1642:Eml6 UTSW 11 29,777,001 (GRCm38) critical splice donor site probably null
R1682:Eml6 UTSW 11 29,759,065 (GRCm38) missense probably benign 0.13
R1687:Eml6 UTSW 11 29,833,187 (GRCm38) missense probably damaging 1.00
R1699:Eml6 UTSW 11 29,746,282 (GRCm38) nonsense probably null
R1796:Eml6 UTSW 11 29,881,975 (GRCm38) missense probably benign 0.19
R1797:Eml6 UTSW 11 29,882,041 (GRCm38) missense probably benign 0.09
R1837:Eml6 UTSW 11 29,749,802 (GRCm38) splice site probably null
R1874:Eml6 UTSW 11 29,831,136 (GRCm38) missense probably damaging 0.99
R1967:Eml6 UTSW 11 30,024,545 (GRCm38) missense probably damaging 1.00
R1969:Eml6 UTSW 11 29,833,075 (GRCm38) missense probably benign
R2007:Eml6 UTSW 11 29,848,814 (GRCm38) critical splice donor site probably null
R2012:Eml6 UTSW 11 29,831,128 (GRCm38) missense possibly damaging 0.85
R2198:Eml6 UTSW 11 29,850,935 (GRCm38) missense probably benign 0.01
R2217:Eml6 UTSW 11 29,818,907 (GRCm38) missense probably damaging 1.00
R2218:Eml6 UTSW 11 29,818,907 (GRCm38) missense probably damaging 1.00
R2403:Eml6 UTSW 11 29,802,434 (GRCm38) missense probably benign 0.05
R2520:Eml6 UTSW 11 29,791,993 (GRCm38) missense probably damaging 1.00
R2937:Eml6 UTSW 11 29,833,049 (GRCm38) splice site probably benign
R2938:Eml6 UTSW 11 29,833,049 (GRCm38) splice site probably benign
R3085:Eml6 UTSW 11 29,809,332 (GRCm38) missense probably damaging 0.96
R3236:Eml6 UTSW 11 29,831,097 (GRCm38) critical splice donor site probably null
R3738:Eml6 UTSW 11 29,803,137 (GRCm38) missense probably benign 0.20
R3739:Eml6 UTSW 11 29,803,137 (GRCm38) missense probably benign 0.20
R3752:Eml6 UTSW 11 29,809,360 (GRCm38) missense probably benign 0.06
R3854:Eml6 UTSW 11 29,749,905 (GRCm38) missense possibly damaging 0.76
R3941:Eml6 UTSW 11 29,803,167 (GRCm38) missense probably damaging 0.98
R4034:Eml6 UTSW 11 29,803,137 (GRCm38) missense probably benign 0.20
R4049:Eml6 UTSW 11 29,838,577 (GRCm38) missense probably damaging 1.00
R4108:Eml6 UTSW 11 29,805,136 (GRCm38) missense probably damaging 0.98
R4657:Eml6 UTSW 11 29,805,108 (GRCm38) missense possibly damaging 0.77
R4662:Eml6 UTSW 11 29,777,390 (GRCm38) missense probably damaging 1.00
R4665:Eml6 UTSW 11 29,819,007 (GRCm38) nonsense probably null
R4721:Eml6 UTSW 11 29,838,525 (GRCm38) missense possibly damaging 0.95
R4729:Eml6 UTSW 11 29,833,204 (GRCm38) missense probably damaging 1.00
R4766:Eml6 UTSW 11 29,805,757 (GRCm38) missense probably benign 0.22
R4810:Eml6 UTSW 11 29,755,011 (GRCm38) missense possibly damaging 0.92
R4831:Eml6 UTSW 11 29,777,052 (GRCm38) nonsense probably null
R5035:Eml6 UTSW 11 29,854,187 (GRCm38) missense probably benign 0.00
R5064:Eml6 UTSW 11 29,749,300 (GRCm38) missense probably benign 0.12
R5103:Eml6 UTSW 11 29,850,905 (GRCm38) missense possibly damaging 0.65
R5121:Eml6 UTSW 11 29,744,606 (GRCm38) missense probably benign 0.03
R5161:Eml6 UTSW 11 30,024,467 (GRCm38) missense probably damaging 0.99
R5211:Eml6 UTSW 11 29,854,145 (GRCm38) missense probably benign 0.02
R5268:Eml6 UTSW 11 29,803,108 (GRCm38) missense probably benign 0.15
R5390:Eml6 UTSW 11 29,760,096 (GRCm38) missense probably damaging 1.00
R5529:Eml6 UTSW 11 29,764,126 (GRCm38) missense probably benign 0.04
R6239:Eml6 UTSW 11 29,749,275 (GRCm38) missense probably damaging 1.00
R6326:Eml6 UTSW 11 29,819,066 (GRCm38) missense probably damaging 1.00
R6395:Eml6 UTSW 11 29,809,321 (GRCm38) missense probably benign 0.00
R6476:Eml6 UTSW 11 29,791,971 (GRCm38) critical splice donor site probably null
R6483:Eml6 UTSW 11 29,749,875 (GRCm38) missense probably benign 0.00
R6701:Eml6 UTSW 11 29,785,748 (GRCm38) missense probably damaging 0.98
R6753:Eml6 UTSW 11 29,754,987 (GRCm38) missense probably damaging 1.00
R6809:Eml6 UTSW 11 29,803,161 (GRCm38) missense probably benign 0.23
R6847:Eml6 UTSW 11 29,818,447 (GRCm38) missense probably benign 0.00
R6855:Eml6 UTSW 11 29,751,381 (GRCm38) splice site probably null
R7168:Eml6 UTSW 11 29,838,529 (GRCm38) missense probably benign 0.01
R7175:Eml6 UTSW 11 29,784,231 (GRCm38) missense probably benign 0.00
R7305:Eml6 UTSW 11 29,777,258 (GRCm38) missense probably benign 0.01
R7615:Eml6 UTSW 11 29,802,501 (GRCm38) missense possibly damaging 0.49
R7692:Eml6 UTSW 11 29,753,085 (GRCm38) missense probably damaging 0.98
R7980:Eml6 UTSW 11 29,833,205 (GRCm38) missense probably damaging 1.00
R8026:Eml6 UTSW 11 29,749,973 (GRCm38) missense possibly damaging 0.63
R8046:Eml6 UTSW 11 29,758,981 (GRCm38) missense probably damaging 0.99
R8049:Eml6 UTSW 11 29,893,201 (GRCm38) missense possibly damaging 0.95
R8114:Eml6 UTSW 11 29,754,910 (GRCm38) missense probably damaging 1.00
R8425:Eml6 UTSW 11 29,755,008 (GRCm38) missense probably benign 0.00
R8799:Eml6 UTSW 11 29,758,981 (GRCm38) missense probably benign 0.11
R8945:Eml6 UTSW 11 29,753,110 (GRCm38) missense probably damaging 0.98
R8977:Eml6 UTSW 11 29,784,182 (GRCm38) missense possibly damaging 0.59
R8986:Eml6 UTSW 11 29,805,181 (GRCm38) missense possibly damaging 0.92
R9088:Eml6 UTSW 11 29,818,424 (GRCm38) missense probably damaging 0.96
R9150:Eml6 UTSW 11 29,805,791 (GRCm38) missense probably benign 0.15
R9209:Eml6 UTSW 11 29,831,175 (GRCm38) missense probably damaging 1.00
R9288:Eml6 UTSW 11 29,838,641 (GRCm38) critical splice acceptor site probably null
R9481:Eml6 UTSW 11 29,838,641 (GRCm38) critical splice acceptor site probably null
R9534:Eml6 UTSW 11 29,784,155 (GRCm38) missense possibly damaging 0.45
RF037:Eml6 UTSW 11 29,752,549 (GRCm38) critical splice acceptor site probably benign
RF039:Eml6 UTSW 11 29,752,551 (GRCm38) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- CATTGAGGAGAGACACATACCTG -3'
(R):5'- TGAACAAGGATTGCTTTTGGC -3'

Sequencing Primer
(F):5'- ATACCTGTCCAGTGGCTACATAG -3'
(R):5'- ACATAGATAGTAGTTGAAGGTCTGC -3'
Posted On 2022-06-15