Incidental Mutation 'R5268:Eml6'
ID 399958
Institutional Source Beutler Lab
Gene Symbol Eml6
Ensembl Gene ENSMUSG00000044072
Gene Name echinoderm microtubule associated protein like 6
Synonyms 2900083P10Rik, C230094A16Rik
MMRRC Submission 042860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R5268 (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 29753108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 934 (R934S)
Ref Sequence ENSEMBL: ENSMUSP00000051080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058902]
AlphaFold Q5SQM0
Predicted Effect probably benign
Transcript: ENSMUST00000058902
AA Change: R934S

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: R934S

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: ENSMUST00000169980
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,444 (GRCm39) E299G probably damaging Het
Adamtsl4 C A 3: 95,587,473 (GRCm39) R701L probably damaging Het
Adgrf5 T C 17: 43,761,890 (GRCm39) V1195A probably damaging Het
Agpat5 A G 8: 18,931,878 (GRCm39) T333A possibly damaging Het
Aspm G T 1: 139,392,033 (GRCm39) G795C probably damaging Het
Car4 C A 11: 84,856,626 (GRCm39) Q305K probably benign Het
Catsperg1 T C 7: 28,894,672 (GRCm39) N612S probably benign Het
Cdc5l G A 17: 45,726,511 (GRCm39) R354W probably damaging Het
Cdh9 G A 15: 16,851,099 (GRCm39) V623I probably benign Het
Cfap65 A G 1: 74,964,061 (GRCm39) V629A probably benign Het
Chd1 G A 17: 15,956,005 (GRCm39) V535I probably damaging Het
Col12a1 A G 9: 79,585,329 (GRCm39) V1316A probably damaging Het
Col6a3 A T 1: 90,712,965 (GRCm39) D1721E unknown Het
Cop1 T A 1: 159,154,734 (GRCm39) F647L probably damaging Het
Corin A C 5: 72,500,362 (GRCm39) S421A probably damaging Het
Crb2 T C 2: 37,680,833 (GRCm39) V587A probably damaging Het
Ctc1 T A 11: 68,920,636 (GRCm39) V646E possibly damaging Het
Cyp2a12 A T 7: 26,730,643 (GRCm39) M203L probably benign Het
Dcdc2c T A 12: 28,566,656 (GRCm39) K336M possibly damaging Het
Ddx39a G A 8: 84,448,950 (GRCm39) R275H probably benign Het
Dennd2b A G 7: 109,156,519 (GRCm39) L77P probably benign Het
Des A G 1: 75,339,572 (GRCm39) N310S possibly damaging Het
Dlk1 C A 12: 109,425,764 (GRCm39) S212R probably benign Het
Dnajc5b A G 3: 19,633,224 (GRCm39) E149G probably benign Het
Dpep1 A T 8: 123,920,828 (GRCm39) I3F probably benign Het
Ercc6l2 T C 13: 64,016,925 (GRCm39) L676P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem2 T A 3: 53,560,575 (GRCm39) I1311F probably damaging Het
Gldc T A 19: 30,123,125 (GRCm39) M257L probably damaging Het
Gm8674 T G 13: 50,055,390 (GRCm39) noncoding transcript Het
Gnai3 C T 3: 108,030,857 (GRCm39) probably null Het
Gtf3a A G 5: 146,891,965 (GRCm39) D300G probably damaging Het
Haus3 A T 5: 34,323,449 (GRCm39) V387D probably damaging Het
Hpf1 T A 8: 61,346,768 (GRCm39) F28I possibly damaging Het
Iars1 A G 13: 49,843,967 (GRCm39) D147G probably damaging Het
Ibtk A T 9: 85,625,743 (GRCm39) D2E probably benign Het
Ift140 T A 17: 25,239,601 (GRCm39) I86K possibly damaging Het
Igf2bp2 T A 16: 21,898,241 (GRCm39) I235F probably damaging Het
Ighv3-8 G T 12: 114,286,252 (GRCm39) A30E probably benign Het
Kcnq5 T A 1: 21,575,949 (GRCm39) T252S probably damaging Het
Lrrc4b A T 7: 44,110,787 (GRCm39) N220Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mamdc4 T C 2: 25,454,702 (GRCm39) T1037A possibly damaging Het
Mbd5 A T 2: 49,162,106 (GRCm39) I863F possibly damaging Het
Muc4 T A 16: 32,570,484 (GRCm39) S515T possibly damaging Het
Mylk4 T A 13: 32,892,864 (GRCm39) probably null Het
Neu4 G A 1: 93,952,669 (GRCm39) R346H probably benign Het
Nxpe5 T A 5: 138,238,200 (GRCm39) Y253* probably null Het
Olfml2b A T 1: 170,477,330 (GRCm39) E155V probably damaging Het
Or14a258 A G 7: 86,034,867 (GRCm39) *334Q probably null Het
Or6a2 T A 7: 106,600,111 (GRCm39) N319Y probably benign Het
Or8a1b T A 9: 37,623,300 (GRCm39) I92F probably damaging Het
Pamr1 G A 2: 102,417,029 (GRCm39) A114T probably damaging Het
Pdzd2 T A 15: 12,592,263 (GRCm39) N127I probably damaging Het
Pglyrp4 C T 3: 90,634,271 (GRCm39) L5F probably damaging Het
Plce1 T A 19: 38,747,279 (GRCm39) S1667T possibly damaging Het
Qser1 A T 2: 104,617,776 (GRCm39) V1012E possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rcn3 A T 7: 44,736,203 (GRCm39) D168E probably damaging Het
Rdh1 T G 10: 127,595,832 (GRCm39) V9G possibly damaging Het
Rin2 A G 2: 145,686,680 (GRCm39) T70A probably benign Het
Rnf207 T C 4: 152,398,346 (GRCm39) D276G probably damaging Het
Rtel1 C T 2: 180,982,354 (GRCm39) S368L probably benign Het
Slc15a5 C A 6: 138,056,751 (GRCm39) C55F probably damaging Het
Slc36a4 T C 9: 15,638,212 (GRCm39) F213L possibly damaging Het
Snhg16 G T 11: 116,562,582 (GRCm39) M18I probably benign Het
Spata25 C T 2: 164,669,954 (GRCm39) G19D probably damaging Het
Tas2r102 A T 6: 132,739,360 (GRCm39) L89F probably damaging Het
Tbc1d1 A G 5: 64,481,910 (GRCm39) K704E probably damaging Het
Tert T G 13: 73,775,473 (GRCm39) S75A probably damaging Het
Tiparp T A 3: 65,454,986 (GRCm39) L195Q possibly damaging Het
Tmem205 A C 9: 21,837,380 (GRCm39) Y57* probably null Het
Tomm22 A G 15: 79,555,428 (GRCm39) R5G probably benign Het
Trav10 A T 14: 53,743,515 (GRCm39) S39C probably benign Het
Trav6-2 T A 14: 52,905,205 (GRCm39) N75K probably benign Het
Trio T C 15: 27,748,372 (GRCm39) S2427G probably benign Het
Ttc41 C A 10: 86,580,342 (GRCm39) H763N possibly damaging Het
Usp29 A T 7: 6,964,583 (GRCm39) N142I probably damaging Het
Vmn1r204 G T 13: 22,740,912 (GRCm39) W181L probably damaging Het
Vmn2r76 G A 7: 85,875,267 (GRCm39) T570M probably damaging Het
Wdr90 A G 17: 26,069,819 (GRCm39) L1173P probably damaging Het
Wnt9a T A 11: 59,219,396 (GRCm39) C141S probably damaging Het
Zfp462 A T 4: 55,012,299 (GRCm39) I1422L probably benign 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
R1682:Eml6 UTSW 11 29,709,065 (GRCm39) missense probably benign 0.13
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
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'- ATACCTGCCAGAGACAGAGAGTTC -3'
(R):5'- GAAATACCTGAGTCCTTGTGGG -3'

Sequencing Primer
(F):5'- AGTTCTGACTGGACGAAAGTAGTG -3'
(R):5'- GCTGGGGAAGTGACTTGTAG -3'
Posted On 2016-07-06