Incidental Mutation 'R1127:Eml3'
ID 96363
Institutional Source Beutler Lab
Gene Symbol Eml3
Ensembl Gene ENSMUSG00000071647
Gene Name echinoderm microtubule associated protein like 3
Synonyms
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R1127 (G1)
Quality Score 178
Status Not validated
Chromosome 19
Chromosomal Location 8906916-8918946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8913672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 43 (T43I)
Ref Sequence ENSEMBL: ENSMUSP00000153061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000224272] [ENSMUST00000224642]
AlphaFold Q8VC03
Predicted Effect possibly damaging
Transcript: ENSMUST00000096241
AA Change: T405I

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: T405I

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 possibly damaging
Transcript: ENSMUST00000224272
AA Change: T404I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000224642
AA Change: T43I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226096
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A 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
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'- gctctataccttcagcTTTCAACCAGAGCC -3'
(R):5'- TCTCCACTGCCTCACCCATCCACAC -3'

Sequencing Primer
(F):5'- tgggaagtggaggcagg -3'
(R):5'- TCACCCATCCACACCTCAC -3'
Posted On 2014-01-05