Incidental Mutation 'R6244:Ect2l'
ID 505462
Institutional Source Beutler Lab
Gene Symbol Ect2l
Ensembl Gene ENSMUSG00000071392
Gene Name epithelial cell transforming sequence 2 oncogene-like
Synonyms C330021H03Rik, Gm10331
MMRRC Submission 044435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R6244 (G1)
Quality Score 221.009
Status Validated
Chromosome 10
Chromosomal Location 18004651-18086638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18016145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 666 (Y666N)
Ref Sequence ENSEMBL: ENSMUSP00000147170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095817] [ENSMUST00000207827] [ENSMUST00000208948] [ENSMUST00000209178]
AlphaFold A0A140LIP2
Predicted Effect possibly damaging
Transcript: ENSMUST00000095817
AA Change: Y716N

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: Y716N

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: Y716N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208948
AA Change: Y758N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209178
AA Change: Y666N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216336
Meta Mutation Damage Score 0.2954 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 96% (82/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 155,845,150 (GRCm39) H113R possibly damaging Het
Adgrf3 A T 5: 30,402,531 (GRCm39) M499K probably benign Het
Adgrv1 G A 13: 81,255,050 (GRCm39) T211I probably damaging Het
Adss2 C T 1: 177,604,395 (GRCm39) E153K probably benign Het
Ago4 C A 4: 126,405,280 (GRCm39) G431V possibly damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Atp2b4 T A 1: 133,654,299 (GRCm39) I769F probably damaging Het
Atp9a T C 2: 168,531,272 (GRCm39) probably null Het
Bltp1 T C 3: 37,011,148 (GRCm39) V1782A probably benign Het
Brap C A 5: 121,803,372 (GRCm39) D173E probably benign Het
Brca2 G T 5: 150,490,443 (GRCm39) R3035L probably benign Het
Ccdc8 C A 7: 16,730,176 (GRCm39) P555Q probably benign Het
Ccser2 A G 14: 36,662,675 (GRCm39) S170P probably benign Het
Celsr2 T C 3: 108,300,444 (GRCm39) H860R probably damaging Het
Cenpc1 C A 5: 86,194,244 (GRCm39) R174M probably damaging Het
Cfap57 T G 4: 118,436,607 (GRCm39) I930L probably damaging Het
Cx3cr1 C T 9: 119,880,760 (GRCm39) R214H probably damaging Het
Cyp4f14 T A 17: 33,125,291 (GRCm39) H429L probably benign Het
D5Ertd579e A G 5: 36,772,620 (GRCm39) F592L probably damaging Het
Ddb1 A G 19: 10,603,287 (GRCm39) E865G probably damaging Het
Ddx50 A T 10: 62,457,345 (GRCm39) probably null Het
Dpp6 A G 5: 27,254,626 (GRCm39) T14A probably damaging Het
Echs1 C A 7: 139,692,982 (GRCm39) Q51H possibly damaging Het
Ecm2 A T 13: 49,683,783 (GRCm39) D587V probably damaging Het
Epha2 G A 4: 141,044,223 (GRCm39) G342S probably benign Het
Fbxo33 C A 12: 59,252,865 (GRCm39) K211N probably benign Het
Fchsd2 A G 7: 100,908,983 (GRCm39) probably null Het
Fen1 A G 19: 10,178,051 (GRCm39) V131A probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Flnb A G 14: 7,892,092 (GRCm38) E587G probably damaging Het
Foxd3 A G 4: 99,545,477 (GRCm39) T206A possibly damaging Het
Fut1 A G 7: 45,268,730 (GRCm39) E228G possibly damaging Het
Galnt13 T C 2: 54,823,560 (GRCm39) F379L probably damaging Het
Gcnt2 A C 13: 41,014,717 (GRCm39) E296A probably damaging Het
Gm7145 T A 1: 117,913,870 (GRCm39) C251S probably damaging Het
Gpam G A 19: 55,059,417 (GRCm39) P810L probably damaging Het
Il1rl2 T A 1: 40,366,726 (GRCm39) L87M possibly damaging Het
Itgae A G 11: 73,036,427 (GRCm39) S1122G probably damaging Het
Kcnh7 T A 2: 63,012,570 (GRCm39) D46V probably damaging Het
Kcnn3 T G 3: 89,552,830 (GRCm39) Y511* probably null Het
Kdm3b T A 18: 34,926,058 (GRCm39) I66N probably damaging Het
Klk1b27 A T 7: 43,703,974 (GRCm39) H39L probably benign Het
Kmo C T 1: 175,487,261 (GRCm39) T404I possibly damaging Het
Krt222 C T 11: 99,125,884 (GRCm39) probably null Het
Magi3 G C 3: 103,923,013 (GRCm39) H1235D probably benign Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Med15 G A 16: 17,470,609 (GRCm39) Q583* probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Myh13 A G 11: 67,253,327 (GRCm39) M1488V probably benign Het
Naip2 A T 13: 100,288,645 (GRCm39) F1193L probably damaging Het
Nop58 T A 1: 59,742,014 (GRCm39) M181K probably damaging Het
Npepps A T 11: 97,104,616 (GRCm39) V796D probably damaging Het
Nr1d1 A G 11: 98,661,363 (GRCm39) F301S probably damaging Het
Nynrin G A 14: 56,105,485 (GRCm39) V832I probably damaging Het
Or13a28 C A 7: 140,218,346 (GRCm39) S244Y probably damaging Het
Or1j14 T A 2: 36,418,353 (GRCm39) C310S probably benign Het
Or2ak7 A T 11: 58,574,830 (GRCm39) T44S possibly damaging Het
Or4e1 T A 14: 52,701,352 (GRCm39) Y38F probably damaging Het
Or8k1 T A 2: 86,047,566 (GRCm39) T163S possibly damaging Het
Phrf1 T A 7: 140,817,586 (GRCm39) C132S probably damaging Het
Plekhn1 T C 4: 156,315,015 (GRCm39) probably null Het
Polr2a G A 11: 69,635,052 (GRCm39) T569M probably damaging Het
Prr29 A G 11: 106,267,458 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Homo
Sc5d T C 9: 42,166,717 (GRCm39) E274G probably benign Het
Serpina1d A T 12: 103,731,087 (GRCm39) probably null Het
Serpinb11 T A 1: 107,299,972 (GRCm39) I106N probably damaging Het
Setd2 G A 9: 110,377,733 (GRCm39) R516K probably damaging Het
Sirt2 G T 7: 28,487,222 (GRCm39) C291F probably damaging Het
Stac3 T C 10: 127,344,044 (GRCm39) V314A probably damaging Het
Stat6 C T 10: 127,493,581 (GRCm39) probably null Het
Strn3 A G 12: 51,656,890 (GRCm39) V712A probably damaging Het
Tmc5 G T 7: 118,233,437 (GRCm39) G84C possibly damaging Het
Tnik C A 3: 28,704,328 (GRCm39) L996I probably damaging Het
Trim30d G T 7: 104,136,817 (GRCm39) T129K probably damaging Het
Triml1 G T 8: 43,591,793 (GRCm39) Y188* probably null Het
Trpc7 A G 13: 56,921,705 (GRCm39) Y760H probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ubash3a A T 17: 31,458,246 (GRCm39) Q575L possibly damaging Het
Usp49 T A 17: 47,983,827 (GRCm39) C61* probably null Het
Vmn2r18 A T 5: 151,508,116 (GRCm39) V336E probably damaging Het
Vwa8 T C 14: 79,324,102 (GRCm39) V1135A probably benign Het
Zcchc4 T C 5: 52,940,503 (GRCm39) V24A probably benign Het
Zfp354c A G 11: 50,705,798 (GRCm39) Y426H 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
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
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'- CACAGCAAAGAGGGCATCTC -3'
(R):5'- CCGCGTTTAGAGCATTCTTG -3'

Sequencing Primer
(F):5'- GTCTTCCAGTGAGACCACC -3'
(R):5'- CCGCGTTTAGAGCATTCTTGAAGAG -3'
Posted On 2018-02-28