Incidental Mutation 'R1497:Eml3'
ID 169004
Institutional Source Beutler Lab
Gene Symbol Eml3
Ensembl Gene ENSMUSG00000071647
Gene Name echinoderm microtubule associated protein like 3
Synonyms
MMRRC Submission 039548-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R1497 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 8906916-8918946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8913733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 424 (S424R)
Ref Sequence ENSEMBL: ENSMUSP00000153500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000224272] [ENSMUST00000224642]
AlphaFold Q8VC03
Predicted Effect probably damaging
Transcript: ENSMUST00000096241
AA Change: S425R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: S425R

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 probably damaging
Transcript: ENSMUST00000224272
AA Change: S424R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000224642
AA Change: S63R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; 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
Meta Mutation Damage Score 0.4876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,864,647 (GRCm39) probably benign Het
Abhd17a A G 10: 80,420,164 (GRCm39) probably benign Het
Acacb G A 5: 114,334,868 (GRCm39) E646K probably damaging Het
Afap1l2 T C 19: 56,916,743 (GRCm39) M262V probably benign Het
Anapc7 T A 5: 122,573,578 (GRCm39) probably benign Het
Car5b T A X: 162,771,400 (GRCm39) K188N probably benign Het
Caskin1 C T 17: 24,723,515 (GRCm39) R768* probably null Het
Casp8ap2 T C 4: 32,639,938 (GRCm39) S331P probably benign Het
Ccdc68 C T 18: 70,093,585 (GRCm39) probably benign Het
Cd44 A T 2: 102,673,300 (GRCm39) probably null Het
Celsr3 A G 9: 108,726,064 (GRCm39) S3090G probably benign Het
Clasp1 A T 1: 118,479,788 (GRCm39) M1023L probably benign Het
Clec16a T C 16: 10,453,123 (GRCm39) F608S probably damaging Het
Col7a1 A C 9: 108,807,893 (GRCm39) E2531A unknown Het
Ctc1 T A 11: 68,913,387 (GRCm39) C128S probably benign Het
Cyp2d41-ps T C 15: 82,666,223 (GRCm39) noncoding transcript Het
Cyp2j6 T A 4: 96,419,898 (GRCm39) I278F probably damaging Het
Dhtkd1 A T 2: 5,908,924 (GRCm39) S723R probably damaging Het
Dhx8 A G 11: 101,626,213 (GRCm39) probably benign Het
Dnah17 A T 11: 118,005,059 (GRCm39) L775Q probably damaging Het
Dnah8 C A 17: 30,971,049 (GRCm39) T2701K probably damaging Het
Epm2aip1 A G 9: 111,101,315 (GRCm39) E96G possibly damaging Het
Ezr T C 17: 7,010,107 (GRCm39) H314R probably benign Het
Fam193b G T 13: 55,702,247 (GRCm39) H43Q probably damaging Het
Fam217a T A 13: 35,095,195 (GRCm39) N340I probably damaging Het
Fcrl1 A T 3: 87,292,109 (GRCm39) Q89H probably damaging Het
Flg2 A T 3: 93,127,076 (GRCm39) H1996L unknown Het
Gabpb1 C T 2: 126,481,169 (GRCm39) V327M possibly damaging Het
Gtf3c3 A G 1: 54,477,098 (GRCm39) V36A probably benign Het
Hspg2 A G 4: 137,275,407 (GRCm39) N2739S probably damaging Het
Hyal1 A G 9: 107,455,194 (GRCm39) probably null Het
Ipo13 T C 4: 117,761,856 (GRCm39) D448G probably benign Het
Kcnq5 T C 1: 21,472,610 (GRCm39) D860G possibly damaging Het
Kif13b A G 14: 64,973,715 (GRCm39) N355S probably damaging Het
Kmt2c T A 5: 25,519,513 (GRCm39) H2199L possibly damaging Het
Magi1 A G 6: 93,724,310 (GRCm39) F235S probably damaging Het
Maml1 A C 11: 50,156,534 (GRCm39) M547R possibly damaging Het
Mapk7 T C 11: 61,384,689 (GRCm39) K6E possibly damaging Het
Mbd5 T A 2: 49,147,393 (GRCm39) N534K possibly damaging Het
Mcat G A 15: 83,433,453 (GRCm39) Q34* probably null Het
Mcu T A 10: 59,284,670 (GRCm39) D180V probably damaging Het
Mettl21c G T 1: 44,048,951 (GRCm39) P199T probably benign Het
Mndal A T 1: 173,700,441 (GRCm39) S177T probably benign Het
Mpeg1 G T 19: 12,438,611 (GRCm39) C23F probably benign Het
Mup15 T A 4: 61,356,471 (GRCm39) Y98F probably benign Het
Myh8 T C 11: 67,180,638 (GRCm39) S625P probably benign Het
Nipsnap2 T C 5: 129,830,282 (GRCm39) probably benign Het
Nlrp4e T C 7: 23,019,797 (GRCm39) S95P probably benign Het
Or1e19 T A 11: 73,316,653 (GRCm39) D52V possibly damaging Het
Or4a66 T C 2: 88,531,106 (GRCm39) D189G probably damaging Het
Otop2 A G 11: 115,220,675 (GRCm39) probably null Het
Pcnx4 G C 12: 72,621,174 (GRCm39) G998A probably benign Het
Pnkd C A 1: 74,390,681 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,573,204 (GRCm39) V701E probably benign Het
Ryr2 A G 13: 11,616,727 (GRCm39) I3897T probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Sdk2 G A 11: 113,784,401 (GRCm39) probably benign Het
Serpinb5 A T 1: 106,803,782 (GRCm39) Q156L probably benign Het
Setdb1 A T 3: 95,234,778 (GRCm39) V975D probably benign Het
Shc1 A G 3: 89,335,752 (GRCm39) *470W probably null Het
Sik3 T A 9: 46,113,320 (GRCm39) V587E probably damaging Het
Sik3 C A 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Spata7 T C 12: 98,635,120 (GRCm39) I384T probably damaging Het
Tanc2 T A 11: 105,812,963 (GRCm39) V1469D probably benign Het
Tasor2 T C 13: 3,620,409 (GRCm39) E2164G probably damaging Het
Tdrd5 A T 1: 156,083,372 (GRCm39) N888K probably benign Het
Tex22 T C 12: 113,039,000 (GRCm39) S34P probably benign Het
Tmed6 T C 8: 107,790,754 (GRCm39) T98A probably benign Het
Trim66 G A 7: 109,083,826 (GRCm39) P141L probably benign Het
Trpa1 T C 1: 14,956,036 (GRCm39) I778V probably benign Het
Urb2 T A 8: 124,754,816 (GRCm39) H174Q probably damaging Het
Usb1 T C 8: 96,065,325 (GRCm39) V59A probably benign Het
Vmn1r11 T A 6: 57,114,394 (GRCm39) N19K probably damaging Het
Vmn1r185 A T 7: 26,311,219 (GRCm39) F95L probably benign Het
Vmn1r206 C T 13: 22,805,160 (GRCm39) V16M probably benign Het
Vmn2r92 T C 17: 18,387,625 (GRCm39) V210A probably benign Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp768 T A 7: 126,942,733 (GRCm39) Q465L probably damaging Het
Zfp804b T A 5: 6,821,105 (GRCm39) N617Y 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
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
Posted On 2014-04-13