Incidental Mutation 'R6720:Ect2l'
ID 529546
Institutional Source Beutler Lab
Gene Symbol Ect2l
Ensembl Gene ENSMUSG00000071392
Gene Name epithelial cell transforming sequence 2 oncogene-like
Synonyms C330021H03Rik, Gm10331
MMRRC Submission 044838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R6720 (G1)
Quality Score 219.009
Status Validated
Chromosome 10
Chromosomal Location 18004651-18086638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18016012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 802 (D802G)
Ref Sequence ENSEMBL: ENSMUSP00000146899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095817] [ENSMUST00000207827] [ENSMUST00000208948] [ENSMUST00000209178]
AlphaFold A0A140LIP2
Predicted Effect possibly damaging
Transcript: ENSMUST00000095817
AA Change: D760G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: D760G

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 possibly damaging
Transcript: ENSMUST00000207827
AA Change: D760G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000208948
AA Change: D802G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209178
AA Change: D710G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216336
Meta Mutation Damage Score 0.1896 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.6%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,181,997 (GRCm39) E51K possibly damaging Het
Abca1 A C 4: 53,083,733 (GRCm39) L700R probably damaging Het
Arpc1a C A 5: 145,038,032 (GRCm39) probably null Het
Baz2b G T 2: 59,755,234 (GRCm39) P241Q probably damaging Het
Cd6 T A 19: 10,771,973 (GRCm39) T414S probably benign Het
Ces2b A T 8: 105,563,501 (GRCm39) E409D probably benign Het
Cfap54 A G 10: 92,656,981 (GRCm39) Y3024H probably benign Het
Chrm1 A G 19: 8,655,912 (GRCm39) T206A probably benign Het
Clptm1l T C 13: 73,766,635 (GRCm39) W512R probably damaging Het
Col15a1 T A 4: 47,247,552 (GRCm39) probably null Het
Cox15 A G 19: 43,725,228 (GRCm39) S392P probably damaging Het
Cplx3 A G 9: 57,521,355 (GRCm39) probably null Het
Cr2 T C 1: 194,837,508 (GRCm39) M1197V probably damaging Het
Ddx60 A G 8: 62,453,723 (GRCm39) K1281E probably benign Het
Dnah11 A G 12: 118,009,381 (GRCm39) F2094L probably damaging Het
Ear2 T A 14: 44,340,416 (GRCm39) C25S probably damaging Het
Eftud2 G A 11: 102,729,449 (GRCm39) Q84* probably null Het
Eif4g3 T A 4: 137,903,143 (GRCm39) probably null Het
Ephb2 T C 4: 136,384,813 (GRCm39) D866G probably damaging Het
Farsb A G 1: 78,449,134 (GRCm39) M99T probably damaging Het
Foxs1 T A 2: 152,774,640 (GRCm39) S138C probably damaging Het
Frem1 T G 4: 82,932,069 (GRCm39) S211R probably damaging Het
Gm19410 G A 8: 36,274,730 (GRCm39) R1517Q probably benign Het
Gria2 T C 3: 80,709,611 (GRCm39) I27M probably benign Het
H2-Q7 A G 17: 35,661,654 (GRCm39) E299G probably benign Het
Hao2 T G 3: 98,784,451 (GRCm39) I305L probably benign Het
Hectd4 C T 5: 121,445,444 (GRCm39) Q122* probably null Het
Hivep1 T A 13: 42,317,760 (GRCm39) C2079S probably damaging Het
Hoxb1 C A 11: 96,257,813 (GRCm39) Q248K probably damaging Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Ighv5-2 T A 12: 113,542,126 (GRCm39) R117S probably damaging Het
Ino80d A C 1: 63,097,769 (GRCm39) S708R probably damaging Het
Mmp15 A G 8: 96,091,942 (GRCm39) N51D probably benign Het
Naip1 T C 13: 100,559,585 (GRCm39) M1140V probably benign Het
Niban2 T A 2: 32,795,838 (GRCm39) V22D probably damaging Het
Or1e1f A G 11: 73,856,291 (GRCm39) N286D probably damaging Het
Or2y8 A G 11: 52,035,520 (GRCm39) V279A probably benign Het
Or8b41 T A 9: 38,054,449 (GRCm39) M1K probably null Het
Or8k21 A G 2: 86,145,409 (GRCm39) S74P probably damaging Het
Pard3b A T 1: 62,198,629 (GRCm39) N239I probably damaging Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pcdha9 T C 18: 37,131,122 (GRCm39) S64P probably damaging Het
Pdcd1 T C 1: 93,969,114 (GRCm39) N68S probably benign Het
Pi4ka G T 16: 17,143,916 (GRCm39) probably null Het
Plekha4 A T 7: 45,190,310 (GRCm39) D359V possibly damaging Het
Serpinb13 A G 1: 106,921,792 (GRCm39) I78V probably benign Het
Slc39a7 T A 17: 34,249,082 (GRCm39) T269S probably benign Het
Sltm T G 9: 70,480,992 (GRCm39) D281E probably damaging Het
Zfp708 T C 13: 67,219,496 (GRCm39) Y76C probably damaging Het
Zfp990 T A 4: 145,263,497 (GRCm39) V165D possibly damaging 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
R0037:Ect2l UTSW 10 18,018,845 (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
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'- ACCATTGCTTGACATTGTTTGG -3'
(R):5'- TGGCCTACAGGTAGCAATGAG -3'

Sequencing Primer
(F):5'- GGCTTGAAATAGATGCCCTTC -3'
(R):5'- CCTACAGGTAGCAATGAGGGCAC -3'
Posted On 2018-08-01