Incidental Mutation 'R5654:Ect2l'
ID 442181
Institutional Source Beutler Lab
Gene Symbol Ect2l
Ensembl Gene ENSMUSG00000071392
Gene Name epithelial cell transforming sequence 2 oncogene-like
Synonyms C330021H03Rik, Gm10331
MMRRC Submission 043300-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R5654 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 18004651-18086638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18018810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 529 (V529M)
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: V579M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: V579M

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: V579M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000208948
AA Change: V621M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000209178
AA Change: V529M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216336
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 96% (69/72)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 T C 1: 75,151,479 (GRCm39) probably null Het
Abcc9 G A 6: 142,571,371 (GRCm39) probably benign Het
Acss2 T C 2: 155,416,575 (GRCm39) probably benign Het
Atp8b4 G A 2: 126,217,725 (GRCm39) T597I probably damaging Het
Btaf1 A T 19: 36,961,015 (GRCm39) N796I probably benign Het
Caskin2 T C 11: 115,690,905 (GRCm39) probably null Het
Cdhr2 A G 13: 54,884,349 (GRCm39) N1295D probably benign Het
Cog3 G A 14: 75,962,239 (GRCm39) T534M probably benign Het
Cpne1 A G 2: 155,919,561 (GRCm39) S303P probably damaging Het
Cs G A 10: 128,187,086 (GRCm39) G74S possibly damaging Het
Cyb5r4 G T 9: 86,929,533 (GRCm39) S229I probably damaging Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Edaradd C A 13: 12,493,161 (GRCm39) R177L possibly damaging Het
Esf1 T C 2: 140,006,148 (GRCm39) D333G possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fbxl18 A G 5: 142,871,558 (GRCm39) I559T probably damaging Het
Fcrl2 A C 3: 87,164,851 (GRCm39) V225G probably benign Het
Ido1 C T 8: 25,077,819 (GRCm39) V83M probably damaging Het
Iffo1 T G 6: 125,130,030 (GRCm39) C419G probably damaging Het
Igfals A T 17: 25,100,439 (GRCm39) Y510F probably benign Het
Ipo9 A T 1: 135,313,210 (GRCm39) Y1006* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jmjd1c T A 10: 67,065,785 (GRCm39) S1737T probably benign Het
Klhl32 C T 4: 24,800,805 (GRCm39) probably null Het
Klk1b11 T A 7: 43,427,810 (GRCm39) C173S probably damaging Het
Klk1b24 A T 7: 43,840,889 (GRCm39) M106L probably benign Het
Lamp1 G A 8: 13,221,388 (GRCm39) probably null Het
Mapk4 A T 18: 74,103,365 (GRCm39) V48E probably damaging Het
Marchf6 A T 15: 31,486,082 (GRCm39) D395E probably damaging Het
Mdp1 A G 14: 55,896,465 (GRCm39) F157S probably damaging Het
Mettl21e A T 1: 44,250,255 (GRCm39) F50L probably damaging Het
Mrgpra2a A G 7: 47,077,153 (GRCm39) I35T probably benign Het
Natd1 T C 11: 60,796,892 (GRCm39) Y91C probably damaging Het
Nbas T A 12: 13,633,476 (GRCm39) Y2294N probably damaging Het
Nrcam A G 12: 44,610,841 (GRCm39) T520A probably benign Het
Nrf1 A G 6: 30,117,061 (GRCm39) T324A probably benign Het
Or10a2 G A 7: 106,673,394 (GRCm39) A120T probably damaging Het
Or4k51 T A 2: 111,585,326 (GRCm39) I244N probably damaging Het
Or52a5 A C 7: 103,427,182 (GRCm39) D123E probably damaging Het
Or5m11b A G 2: 85,806,500 (GRCm39) I304M probably benign Het
Pam C T 1: 97,792,123 (GRCm39) V433I probably benign Het
Pck1 T A 2: 173,000,353 (GRCm39) Y595N probably damaging Het
Per2 C T 1: 91,373,223 (GRCm39) probably null Het
Piezo2 G C 18: 63,278,162 (GRCm39) F247L possibly damaging Het
Pkdcc A G 17: 83,523,337 (GRCm39) Y148C probably damaging Het
Plod2 A G 9: 92,475,876 (GRCm39) T320A probably benign Het
Ppip5k1 G A 2: 121,147,157 (GRCm39) R1155C probably benign Het
Ppp1r15b C T 1: 133,059,382 (GRCm39) probably benign Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Ptprz1 G T 6: 22,986,133 (GRCm39) C311F probably damaging Het
Rab11fip3 A T 17: 26,235,038 (GRCm39) V44E probably damaging Het
Rpl5 T A 5: 108,051,514 (GRCm39) probably benign Het
Rttn G A 18: 89,066,556 (GRCm39) V1201I probably benign Het
Sdk1 A G 5: 141,921,853 (GRCm39) N283S probably damaging Het
Shank3 T A 15: 89,405,529 (GRCm39) N418K probably benign Het
Shmt2 T C 10: 127,353,668 (GRCm39) D499G probably benign Het
Slc25a46 A G 18: 31,716,293 (GRCm39) L403S probably damaging Het
Slc5a1 A G 5: 33,303,955 (GRCm39) T257A probably benign Het
Snrnp35 T C 5: 124,628,535 (GRCm39) V116A probably benign Het
Spag9 T A 11: 93,981,538 (GRCm39) F593I probably damaging Het
Tmem171 C A 13: 98,828,574 (GRCm39) R192L probably benign Het
Trappc3l T A 10: 33,978,703 (GRCm39) L169Q unknown Het
Ube2s T C 7: 4,811,431 (GRCm39) E148G probably damaging Het
Uspl1 T C 5: 149,146,521 (GRCm39) F424S probably damaging Het
Vmn1r2 T C 4: 3,172,261 (GRCm39) V60A probably benign Het
Wdfy4 T C 14: 32,829,575 (GRCm39) probably null Het
Zfp735 C T 11: 73,602,964 (GRCm39) S636L possibly damaging Het
Zswim9 G A 7: 12,995,094 (GRCm39) S354F probably 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
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'- AAGACGCCATCTTTAGGGC -3'
(R):5'- CCTTAGGACATGGCTTCTTATGC -3'

Sequencing Primer
(F):5'- TGGATATTGGCAGCACTC -3'
(R):5'- GGACATGGCTTCTTATGCTCCAAAC -3'
Posted On 2016-11-09