Incidental Mutation 'R5467:Eml3'
ID 433304
Institutional Source Beutler Lab
Gene Symbol Eml3
Ensembl Gene ENSMUSG00000071647
Gene Name echinoderm microtubule associated protein like 3
Synonyms
MMRRC Submission 043028-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R5467 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8906916-8918946 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 8914946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 601 (W601*)
Ref Sequence ENSEMBL: ENSMUSP00000153500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096240] [ENSMUST00000096241] [ENSMUST00000224272] [ENSMUST00000224642]
AlphaFold Q8VC03
Predicted Effect probably benign
Transcript: ENSMUST00000096240
SMART Domains Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646

DomainStartEndE-ValueType
BAH 4 144 7.34e-34 SMART
ELM2 147 201 5.58e-15 SMART
SANT 264 313 2.24e-7 SMART
ZnF_GATA 361 415 5.5e-15 SMART
low complexity region 475 490 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000096241
AA Change: W602*
SMART Domains Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: W602*

DomainStartEndE-ValueType
coiled coil region 12 47 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
low complexity region 118 139 N/A INTRINSIC
low complexity region 149 168 N/A INTRINSIC
low complexity region 198 208 N/A INTRINSIC
Pfam:HELP 215 286 5.3e-30 PFAM
WD40 295 344 6.34e-2 SMART
Blast:WD40 347 392 5e-22 BLAST
WD40 395 434 1.56e-1 SMART
WD40 450 487 2.64e2 SMART
WD40 504 543 3.33e-1 SMART
WD40 587 626 2.69e-5 SMART
WD40 670 709 1.7e-2 SMART
WD40 716 755 1.52e-4 SMART
WD40 829 869 1.29e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137956
Predicted Effect probably null
Transcript: ENSMUST00000224272
AA Change: W601*
Predicted Effect probably benign
Transcript: ENSMUST00000224642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225377
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,222,991 (GRCm39) M525T possibly damaging Het
Arpc5l T C 2: 38,903,751 (GRCm39) V80A possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bltp3b G T 10: 89,640,961 (GRCm39) G711W probably damaging Het
Celsr3 A T 9: 108,705,836 (GRCm39) D773V probably damaging Het
Clcn6 A T 4: 148,102,093 (GRCm39) H330Q possibly damaging Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Dmbt1 C A 7: 130,642,723 (GRCm39) S180R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elovl7 T C 13: 108,416,156 (GRCm39) V182A probably benign Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fras1 A T 5: 96,927,912 (GRCm39) Y3775F probably benign Het
Gns T C 10: 121,227,351 (GRCm39) W454R probably benign Het
Katnip T C 7: 125,442,527 (GRCm39) F812S possibly damaging Het
Kcnh2 A T 5: 24,531,765 (GRCm39) L40* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrrc37 G T 11: 103,494,091 (GRCm39) C655* probably null Het
Mgl2 T A 11: 70,025,878 (GRCm39) I31N possibly damaging Het
Muc6 T C 7: 141,216,448 (GRCm39) T2677A possibly damaging Het
Ndst1 A G 18: 60,825,093 (GRCm39) S742P probably benign Het
Or10g6 G T 9: 39,933,733 (GRCm39) V15L probably benign Het
Or1o11 G T 17: 37,756,973 (GRCm39) C187F probably damaging Het
Or4d6 A C 19: 12,086,023 (GRCm39) S70A probably benign Het
Or5b112 A T 19: 13,319,521 (GRCm39) Y133F probably damaging Het
Or8g21 T C 9: 38,906,200 (GRCm39) Y177C probably benign Het
Pcdhb22 A G 18: 37,653,188 (GRCm39) D552G probably benign Het
Pikfyve T A 1: 65,291,654 (GRCm39) V1291E probably damaging Het
Ppp4r3a T C 12: 101,009,729 (GRCm39) E636G probably damaging Het
Prl5a1 A T 13: 28,333,994 (GRCm39) I166L possibly damaging Het
Rb1 T C 14: 73,449,060 (GRCm39) D690G possibly damaging Het
Sh3tc2 A G 18: 62,123,759 (GRCm39) H840R possibly damaging Het
Skida1 T C 2: 18,050,923 (GRCm39) probably benign Het
Slc31a2 A G 4: 62,210,924 (GRCm39) H19R probably damaging Het
Styxl2 C A 1: 165,939,599 (GRCm39) probably null Het
Tnks2 A T 19: 36,859,176 (GRCm39) R314W probably damaging Het
Trak1 A G 9: 121,275,864 (GRCm39) D189G probably damaging Het
Trav13n-4 T A 14: 53,601,303 (GRCm39) V24E probably damaging Het
Ylpm1 T C 12: 85,043,633 (GRCm39) Y124H unknown Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Eml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Eml3 APN 19 8,913,762 (GRCm39) nonsense probably null
IGL01398:Eml3 APN 19 8,911,598 (GRCm39) splice site probably benign
IGL01904:Eml3 APN 19 8,914,130 (GRCm39) splice site probably benign
IGL02557:Eml3 APN 19 8,908,745 (GRCm39) unclassified probably benign
IGL02795:Eml3 APN 19 8,911,142 (GRCm39) missense probably benign 0.43
IGL03160:Eml3 APN 19 8,912,319 (GRCm39) missense probably benign 0.04
IGL03172:Eml3 APN 19 8,916,543 (GRCm39) unclassified probably benign
IGL03376:Eml3 APN 19 8,911,154 (GRCm39) missense probably damaging 1.00
R0063:Eml3 UTSW 19 8,915,842 (GRCm39) missense probably damaging 1.00
R0063:Eml3 UTSW 19 8,915,842 (GRCm39) missense probably damaging 1.00
R0097:Eml3 UTSW 19 8,914,015 (GRCm39) missense probably benign 0.32
R0097:Eml3 UTSW 19 8,914,015 (GRCm39) missense probably benign 0.32
R0599:Eml3 UTSW 19 8,916,427 (GRCm39) missense probably benign 0.14
R0652:Eml3 UTSW 19 8,910,649 (GRCm39) missense probably damaging 1.00
R0827:Eml3 UTSW 19 8,915,830 (GRCm39) missense probably damaging 0.98
R0841:Eml3 UTSW 19 8,915,049 (GRCm39) missense probably benign
R0880:Eml3 UTSW 19 8,918,279 (GRCm39) missense possibly damaging 0.92
R0924:Eml3 UTSW 19 8,910,675 (GRCm39) critical splice donor site probably null
R1127:Eml3 UTSW 19 8,913,672 (GRCm39) missense probably damaging 0.99
R1156:Eml3 UTSW 19 8,911,494 (GRCm39) missense probably damaging 1.00
R1160:Eml3 UTSW 19 8,910,614 (GRCm39) missense probably benign 0.00
R1427:Eml3 UTSW 19 8,911,225 (GRCm39) missense probably damaging 1.00
R1497:Eml3 UTSW 19 8,913,733 (GRCm39) missense probably damaging 1.00
R1679:Eml3 UTSW 19 8,914,001 (GRCm39) missense probably damaging 0.98
R1931:Eml3 UTSW 19 8,914,507 (GRCm39) missense probably benign 0.43
R2119:Eml3 UTSW 19 8,911,718 (GRCm39) critical splice donor site probably null
R4296:Eml3 UTSW 19 8,908,773 (GRCm39) missense probably damaging 1.00
R5122:Eml3 UTSW 19 8,915,060 (GRCm39) critical splice donor site probably null
R5288:Eml3 UTSW 19 8,916,638 (GRCm39) missense probably damaging 1.00
R5836:Eml3 UTSW 19 8,918,659 (GRCm39) missense possibly damaging 0.96
R5845:Eml3 UTSW 19 8,916,582 (GRCm39) missense probably damaging 1.00
R5879:Eml3 UTSW 19 8,912,379 (GRCm39) missense possibly damaging 0.77
R5881:Eml3 UTSW 19 8,910,807 (GRCm39) missense probably damaging 1.00
R6011:Eml3 UTSW 19 8,916,471 (GRCm39) missense probably damaging 1.00
R6247:Eml3 UTSW 19 8,908,313 (GRCm39) missense probably benign
R6777:Eml3 UTSW 19 8,914,086 (GRCm39) missense probably benign
R7132:Eml3 UTSW 19 8,918,392 (GRCm39) missense probably benign 0.25
R7169:Eml3 UTSW 19 8,910,828 (GRCm39) missense probably damaging 1.00
R7896:Eml3 UTSW 19 8,911,171 (GRCm39) missense possibly damaging 0.96
R8054:Eml3 UTSW 19 8,916,414 (GRCm39) missense possibly damaging 0.77
R8354:Eml3 UTSW 19 8,912,358 (GRCm39) missense probably damaging 1.00
R8361:Eml3 UTSW 19 8,914,801 (GRCm39) missense possibly damaging 0.94
R8454:Eml3 UTSW 19 8,912,358 (GRCm39) missense probably damaging 1.00
R8896:Eml3 UTSW 19 8,914,056 (GRCm39) missense probably damaging 1.00
X0025:Eml3 UTSW 19 8,914,803 (GRCm39) missense probably damaging 0.96
Z1177:Eml3 UTSW 19 8,914,925 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATTGCTGAAGGGCTTGGCTC -3'
(R):5'- TAACCACAGTACAGTCAGTTCTCC -3'

Sequencing Primer
(F):5'- CTCTGAGCTGCTGGTGGGAAC -3'
(R):5'- GTACAGTCAGTTCTCCCAGAC -3'
Posted On 2016-10-06