Incidental Mutation 'R0880:Eml3'
ID 80490
Institutional Source Beutler Lab
Gene Symbol Eml3
Ensembl Gene ENSMUSG00000071647
Gene Name echinoderm microtubule associated protein like 3
Synonyms
MMRRC Submission 039047-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R0880 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8906916-8918946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8918279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 790 (D790G)
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 possibly damaging
Transcript: ENSMUST00000096241
AA Change: D791G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: D791G

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: ENSMUST00000132463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169535
Predicted Effect possibly damaging
Transcript: ENSMUST00000224272
AA Change: D790G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226096
Predicted Effect probably benign
Transcript: ENSMUST00000224642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225054
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,537,609 (GRCm39) Y701H possibly damaging Het
Akap6 A G 12: 53,186,291 (GRCm39) D1235G possibly damaging Het
Arhgef18 A G 8: 3,439,032 (GRCm39) probably benign Het
Astn2 A G 4: 65,566,567 (GRCm39) Y812H probably damaging Het
Bmpr1b G T 3: 141,576,557 (GRCm39) S92* probably null Het
Camsap2 T C 1: 136,208,708 (GRCm39) D934G probably benign Het
Cdh23 A G 10: 60,242,200 (GRCm39) V1076A possibly damaging Het
Cdhr1 T C 14: 36,802,591 (GRCm39) D624G possibly damaging Het
Cfap57 A T 4: 118,439,035 (GRCm39) Y830* probably null Het
Ess2 A G 16: 17,729,051 (GRCm39) V40A probably damaging Het
Gucy2c T C 6: 136,686,830 (GRCm39) probably null Het
Helz2 A C 2: 180,877,928 (GRCm39) S957A probably benign Het
Ifi209 T A 1: 173,472,379 (GRCm39) S407T probably damaging Het
Iftap T A 2: 101,406,455 (GRCm39) T158S probably benign Het
Muc6 T C 7: 141,217,270 (GRCm39) T2403A possibly damaging Het
Nfe2 T C 15: 103,157,689 (GRCm39) N101D probably damaging Het
Nsf A T 11: 103,804,198 (GRCm39) V178D possibly damaging Het
P4ha3 A G 7: 99,955,116 (GRCm39) T324A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Rhbdf1 T C 11: 32,163,432 (GRCm39) probably null Het
Samd9l G A 6: 3,377,064 (GRCm39) L66F probably damaging Het
Speg T C 1: 75,381,705 (GRCm39) F1024S probably damaging Het
Sspo A G 6: 48,452,869 (GRCm39) N2859S possibly damaging Het
Tnfrsf21 G A 17: 43,348,733 (GRCm39) W115* probably null 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
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
R5467:Eml3 UTSW 19 8,914,946 (GRCm39) nonsense probably null
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'- TGGGCTACCTATACCTGTGTGCTG -3'
(R):5'- AGCATCCTTGCCACCTAAGGAGAC -3'

Sequencing Primer
(F):5'- CCAGGATCTGGAATCCGTTAG -3'
(R):5'- CGAGCACATGGGTACTGAAA -3'
Posted On 2013-11-07