Incidental Mutation 'IGL02584:Eml6'
ID 299488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eml6
Ensembl Gene ENSMUSG00000044072
Gene Name echinoderm microtubule associated protein like 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # IGL02584
Quality Score
Status
Chromosome 11
Chromosomal Location 29743048-30026033 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29749387 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1789 (S1789P)
Ref Sequence ENSEMBL: ENSMUSP00000051080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000137689]
AlphaFold Q5SQM0
Predicted Effect probably damaging
Transcript: ENSMUST00000058902
AA Change: S1789P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: S1789P

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 noncoding transcript
Transcript: ENSMUST00000137017
Predicted Effect probably benign
Transcript: ENSMUST00000137689
SMART Domains Protein: ENSMUSP00000116197
Gene: ENSMUSG00000044072

DomainStartEndE-ValueType
SCOP:d2bbkh_ 14 72 9e-8 SMART
Blast:WD40 22 64 1e-24 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142651
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 89,174,856 (GRCm38) Y22F unknown Het
Adgrb3 A G 1: 25,504,984 (GRCm38) L312P probably damaging Het
Anpep T C 7: 79,825,393 (GRCm38) probably benign Het
Arhgef6 T G X: 57,246,378 (GRCm38) probably benign Het
Catsperg1 T C 7: 29,184,721 (GRCm38) D989G probably damaging Het
Ccnj T A 19: 40,844,741 (GRCm38) V121E probably benign Het
Cdyl T C 13: 35,683,786 (GRCm38) L15P probably benign Het
Cnrip1 T A 11: 17,078,536 (GRCm38) M156K probably damaging Het
Cryga T A 1: 65,103,016 (GRCm38) S73C probably benign Het
Dennd4a A G 9: 64,851,298 (GRCm38) T240A probably damaging Het
Esr2 A T 12: 76,145,262 (GRCm38) W331R probably damaging Het
Fbxo18 A T 2: 11,759,958 (GRCm38) L455H probably benign Het
Gm21698 T A 5: 25,987,393 (GRCm38) E65V probably damaging Het
Grm8 G T 6: 27,762,439 (GRCm38) F262L probably benign Het
Haus3 A T 5: 34,166,258 (GRCm38) L336* probably null Het
Hfm1 A C 5: 106,878,662 (GRCm38) probably null Het
Hgfac T C 5: 35,043,961 (GRCm38) probably benign Het
Ighv1-22 T C 12: 114,746,322 (GRCm38) E101G probably benign Het
Impg2 A G 16: 56,265,011 (GRCm38) E1027G probably damaging Het
Lypd5 A T 7: 24,353,568 (GRCm38) T217S possibly damaging Het
Myrf A G 19: 10,212,223 (GRCm38) probably benign Het
Mzf1 A G 7: 13,052,817 (GRCm38) W109R probably damaging Het
Ndufb4 A T 16: 37,649,170 (GRCm38) probably benign Het
Ntn1 A G 11: 68,277,530 (GRCm38) V367A probably damaging Het
Olfr1029 C T 2: 85,975,875 (GRCm38) L211F probably damaging Het
Oprk1 A G 1: 5,598,604 (GRCm38) K91R probably damaging Het
Pdlim1 A G 19: 40,243,400 (GRCm38) probably null Het
Ppp1r11 G A 17: 36,949,889 (GRCm38) R61C probably damaging Het
Racgap1 T C 15: 99,623,634 (GRCm38) D547G probably benign Het
Sema4b A G 7: 80,224,988 (GRCm38) T709A probably benign Het
Srrm1 G A 4: 135,325,104 (GRCm38) P658L unknown Het
Supt5 T C 7: 28,326,167 (GRCm38) H218R probably benign Het
Tmem132c T A 5: 127,504,999 (GRCm38) I426N probably damaging Het
Tpcn1 T C 5: 120,539,032 (GRCm38) N696S probably damaging Het
Ttn T C 2: 76,736,162 (GRCm38) N26383S possibly damaging Het
Vax2 A G 6: 83,711,513 (GRCm38) T73A probably benign Het
Zfp518a G A 19: 40,914,617 (GRCm38) G997R 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
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
R9467:Eml6 UTSW 11 29,819,076 (GRCm38) missense probably damaging 0.99
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
Posted On 2015-04-16