Incidental Mutation 'R0037:Ect2l'
ID 64629
Institutional Source Beutler Lab
Gene Symbol Ect2l
Ensembl Gene ENSMUSG00000071392
Gene Name epithelial cell transforming sequence 2 oncogene-like
Synonyms C330021H03Rik, Gm10331
MMRRC Submission 038331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R0037 (G1)
Quality Score 87
Status Not validated
Chromosome 10
Chromosomal Location 18004651-18086638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18018845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 517 (L517P)
Ref Sequence ENSEMBL: ENSMUSP00000147170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095817] [ENSMUST00000207827] [ENSMUST00000208948] [ENSMUST00000209178]
AlphaFold A0A140LIP2
Predicted Effect probably damaging
Transcript: ENSMUST00000095817
AA Change: L567P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: L567P

DomainStartEndE-ValueType
FBOX 93 133 3.5e-4 SMART
Pfam:DUF4347 297 468 1.4e-11 PFAM
RhoGEF 578 761 6.3e-46 SMART
Blast:PH 793 909 6e-49 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000207827
AA Change: L567P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208948
AA Change: L609P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000209178
AA Change: L517P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216336
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dusp26 G A 8: 31,586,388 (GRCm39) R203H unknown Het
Il5ra T A 6: 106,719,647 (GRCm39) Y62F probably damaging Het
Lrp4 A G 2: 91,301,548 (GRCm39) T43A probably benign Het
Pfas A G 11: 68,890,862 (GRCm39) Y350H probably damaging Het
Ppp1r16b T A 2: 158,599,129 (GRCm39) I367N probably damaging Het
Ralgapb T C 2: 158,279,331 (GRCm39) L139S probably damaging Het
Swap70 T A 7: 109,863,287 (GRCm39) N205K possibly damaging Het
Trim24 A T 6: 37,934,484 (GRCm39) N733I probably damaging Het
Ttn A G 2: 76,693,616 (GRCm39) probably null Het
Uggt1 A T 1: 36,225,013 (GRCm39) D540E probably benign Het
Other mutations in Ect2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Ect2l APN 10 18,006,478 (GRCm39) missense probably damaging 1.00
IGL01773:Ect2l APN 10 18,037,252 (GRCm39) missense probably damaging 0.97
IGL02293:Ect2l APN 10 18,016,259 (GRCm39) critical splice donor site probably null
IGL02589:Ect2l APN 10 18,016,342 (GRCm39) splice site probably benign
IGL02866:Ect2l APN 10 18,035,565 (GRCm39) missense probably damaging 1.00
R0526:Ect2l UTSW 10 18,075,688 (GRCm39) missense possibly damaging 0.92
R0628:Ect2l UTSW 10 18,018,788 (GRCm39) missense probably damaging 1.00
R0839:Ect2l UTSW 10 18,017,652 (GRCm39) missense probably benign 0.03
R0948:Ect2l UTSW 10 18,016,334 (GRCm39) missense probably damaging 1.00
R1103:Ect2l UTSW 10 18,016,274 (GRCm39) missense probably damaging 1.00
R1238:Ect2l UTSW 10 18,018,852 (GRCm39) missense possibly damaging 0.94
R1326:Ect2l UTSW 10 18,041,290 (GRCm39) missense probably benign 0.00
R1327:Ect2l UTSW 10 18,041,290 (GRCm39) missense probably benign 0.00
R1544:Ect2l UTSW 10 18,044,182 (GRCm39) missense probably benign 0.04
R1848:Ect2l UTSW 10 18,075,781 (GRCm39) missense probably damaging 1.00
R1921:Ect2l UTSW 10 18,018,752 (GRCm39) missense possibly damaging 0.89
R1938:Ect2l UTSW 10 18,020,383 (GRCm39) missense probably benign 0.00
R2081:Ect2l UTSW 10 18,041,275 (GRCm39) missense probably damaging 1.00
R3551:Ect2l UTSW 10 18,039,141 (GRCm39) missense probably damaging 1.00
R3608:Ect2l UTSW 10 18,018,688 (GRCm39) missense possibly damaging 0.92
R3886:Ect2l UTSW 10 18,044,206 (GRCm39) missense probably damaging 1.00
R4120:Ect2l UTSW 10 18,006,466 (GRCm39) missense probably benign 0.00
R4348:Ect2l UTSW 10 18,012,736 (GRCm39) missense probably damaging 1.00
R4992:Ect2l UTSW 10 18,048,477 (GRCm39) missense probably benign 0.00
R5053:Ect2l UTSW 10 18,016,093 (GRCm39) missense probably damaging 1.00
R5144:Ect2l UTSW 10 18,020,325 (GRCm39) missense probably benign 0.03
R5654:Ect2l UTSW 10 18,018,810 (GRCm39) missense probably damaging 0.99
R5779:Ect2l UTSW 10 18,039,186 (GRCm39) missense probably benign 0.09
R5814:Ect2l UTSW 10 18,075,757 (GRCm39) missense probably damaging 0.97
R6053:Ect2l UTSW 10 18,017,592 (GRCm39) missense probably damaging 1.00
R6057:Ect2l UTSW 10 18,037,250 (GRCm39) missense probably benign 0.02
R6244:Ect2l UTSW 10 18,016,145 (GRCm39) missense possibly damaging 0.93
R6720:Ect2l UTSW 10 18,016,012 (GRCm39) missense probably damaging 1.00
R6817:Ect2l UTSW 10 18,049,807 (GRCm39) missense probably benign 0.00
R6894:Ect2l UTSW 10 18,045,128 (GRCm39) critical splice donor site probably null
R7199:Ect2l UTSW 10 18,004,894 (GRCm39) missense probably benign 0.02
R7313:Ect2l UTSW 10 18,044,149 (GRCm39) missense probably damaging 0.98
R7404:Ect2l UTSW 10 18,035,529 (GRCm39) missense probably damaging 0.99
R7482:Ect2l UTSW 10 18,044,202 (GRCm39) missense probably benign 0.07
R7751:Ect2l UTSW 10 18,045,153 (GRCm39) missense possibly damaging 0.82
R7752:Ect2l UTSW 10 18,017,712 (GRCm39) missense possibly damaging 0.94
R7880:Ect2l UTSW 10 18,012,702 (GRCm39) missense possibly damaging 0.60
R7901:Ect2l UTSW 10 18,017,712 (GRCm39) missense possibly damaging 0.94
R8138:Ect2l UTSW 10 18,045,153 (GRCm39) missense probably damaging 0.96
R8526:Ect2l UTSW 10 18,020,375 (GRCm39) missense probably benign 0.37
R8870:Ect2l UTSW 10 18,014,608 (GRCm39) nonsense probably null
R8885:Ect2l UTSW 10 18,048,583 (GRCm39) missense probably damaging 0.97
R9015:Ect2l UTSW 10 18,039,148 (GRCm39) missense probably benign 0.00
R9040:Ect2l UTSW 10 18,077,098 (GRCm39) missense possibly damaging 0.85
R9195:Ect2l UTSW 10 18,018,836 (GRCm39) missense probably benign 0.00
R9335:Ect2l UTSW 10 18,077,032 (GRCm39) missense probably null 1.00
R9496:Ect2l UTSW 10 18,004,885 (GRCm39) missense probably damaging 1.00
R9659:Ect2l UTSW 10 18,041,347 (GRCm39) missense possibly damaging 0.90
R9712:Ect2l UTSW 10 18,044,182 (GRCm39) missense probably benign 0.04
R9788:Ect2l UTSW 10 18,041,347 (GRCm39) missense possibly damaging 0.90
X0018:Ect2l UTSW 10 18,006,400 (GRCm39) missense probably benign 0.02
Z1177:Ect2l UTSW 10 18,048,420 (GRCm39) missense probably null 0.71
Predicted Primers PCR Primer
(F):5'- TTGGCAGCACTCAGAATGGCTC -3'
(R):5'- GCTGAAAGGTACAACATGCAAGCAC -3'

Sequencing Primer
(F):5'- CACTCAGAATGGCTCTGTTTG -3'
(R):5'- tgaacacctgaatgagaaaaactaag -3'
Posted On 2013-08-06