Incidental Mutation 'R9496:Ect2l'
ID 717227
Institutional Source Beutler Lab
Gene Symbol Ect2l
Ensembl Gene ENSMUSG00000071392
Gene Name epithelial cell transforming sequence 2 oncogene-like
Synonyms C330021H03Rik, Gm10331
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R9496 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 18004651-18086638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18004885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 916 (N916S)
Ref Sequence ENSEMBL: ENSMUSP00000146899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095817] [ENSMUST00000126390] [ENSMUST00000154718] [ENSMUST00000155284] [ENSMUST00000164556] [ENSMUST00000208948] [ENSMUST00000207827] [ENSMUST00000209178]
AlphaFold A0A140LIP2
Predicted Effect probably damaging
Transcript: ENSMUST00000095817
AA Change: N874S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: N874S

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 benign
Transcript: ENSMUST00000126390
SMART Domains Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
EH 3 99 2.34e-2 SMART
low complexity region 156 175 N/A INTRINSIC
low complexity region 205 216 N/A INTRINSIC
low complexity region 254 265 N/A INTRINSIC
EH 278 373 2.18e-34 SMART
low complexity region 390 406 N/A INTRINSIC
low complexity region 545 561 N/A INTRINSIC
low complexity region 574 599 N/A INTRINSIC
Blast:MYSc 613 671 1e-15 BLAST
coiled coil region 750 790 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150029
SMART Domains Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
Blast:EH 2 86 5e-51 BLAST
low complexity region 143 162 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
low complexity region 241 252 N/A INTRINSIC
EH 265 360 2.18e-34 SMART
low complexity region 377 393 N/A INTRINSIC
low complexity region 505 521 N/A INTRINSIC
low complexity region 534 559 N/A INTRINSIC
Blast:MYSc 573 631 1e-15 BLAST
coiled coil region 709 749 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154718
SMART Domains Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
EH 3 99 2.34e-2 SMART
low complexity region 156 175 N/A INTRINSIC
low complexity region 205 216 N/A INTRINSIC
low complexity region 254 265 N/A INTRINSIC
EH 278 373 2.18e-34 SMART
low complexity region 390 406 N/A INTRINSIC
low complexity region 484 509 N/A INTRINSIC
Blast:MYSc 523 581 9e-16 BLAST
coiled coil region 660 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155284
SMART Domains Protein: ENSMUSP00000119629
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
Blast:EH 3 99 6e-65 BLAST
low complexity region 156 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164556
SMART Domains Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
EH 3 99 2.34e-2 SMART
low complexity region 156 175 N/A INTRINSIC
low complexity region 205 216 N/A INTRINSIC
low complexity region 254 265 N/A INTRINSIC
EH 278 373 2.18e-34 SMART
low complexity region 390 406 N/A INTRINSIC
low complexity region 518 534 N/A INTRINSIC
low complexity region 547 572 N/A INTRINSIC
Blast:MYSc 586 644 9e-16 BLAST
coiled coil region 723 763 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000208948
AA Change: N916S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000207827
AA Change: N872S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000209178
AA Change: N824S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2a A T 19: 6,310,022 (GRCm39) Q1735L possibly damaging Het
Brpf3 A G 17: 29,040,453 (GRCm39) D958G probably benign Het
Cacna1g A G 11: 94,356,711 (GRCm39) F142L probably benign Het
Calcoco1 C T 15: 102,619,876 (GRCm39) A303T probably benign Het
Chat C A 14: 32,148,119 (GRCm39) C306F probably benign Het
Ciita T G 16: 10,298,009 (GRCm39) M1R probably null Het
Ckap2l A C 2: 129,112,595 (GRCm39) S638A probably benign Het
Coro1c C T 5: 113,983,337 (GRCm39) G397D probably benign Het
Cyb5r2 A G 7: 107,353,954 (GRCm39) V72A probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcbld2 A G 16: 58,271,164 (GRCm39) T314A probably benign Het
Dcun1d4 T G 5: 73,668,272 (GRCm39) H37Q probably damaging Het
Dgkd T A 1: 87,857,464 (GRCm39) S725R probably benign Het
Dhx29 T C 13: 113,089,460 (GRCm39) Y744H probably damaging Het
Ep400 T C 5: 110,855,853 (GRCm39) K1287E unknown Het
Epo C T 5: 137,482,401 (GRCm39) V89I probably benign Het
Fbxw15 A T 9: 109,397,291 (GRCm39) I3N probably benign Het
Fcgr3 A C 1: 170,879,386 (GRCm39) Y219D possibly damaging Het
Fign A T 2: 63,809,253 (GRCm39) C672* probably null Het
Fsip2 A T 2: 82,793,062 (GRCm39) R406S probably benign Het
Gli2 A G 1: 118,764,425 (GRCm39) V1242A probably benign Het
Gm10577 C T 4: 100,877,745 (GRCm39) C50Y unknown Het
Gm11568 GCTGCTGCCAGCCCTGCTGCCAGCCC GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC 11: 99,749,044 (GRCm39) probably benign Het
Grid1 T C 14: 35,291,571 (GRCm39) L826P probably damaging Het
Hmcn1 T C 1: 150,579,971 (GRCm39) D1922G probably benign Het
Itga2b C T 11: 102,358,629 (GRCm39) C96Y probably damaging Het
Itih2 A T 2: 10,106,984 (GRCm39) I670N probably benign Het
Lypla1 A T 1: 4,898,813 (GRCm39) probably benign Het
Mettl16 T C 11: 74,707,696 (GRCm39) S337P possibly damaging Het
Myh11 G A 16: 14,048,616 (GRCm39) Q564* probably null Het
Myrf A G 19: 10,193,840 (GRCm39) F529L probably benign Het
Nell2 T G 15: 95,194,097 (GRCm39) I539L probably benign Het
Nfxl1 A T 5: 72,685,502 (GRCm39) V646E possibly damaging Het
Nin T C 12: 70,102,762 (GRCm39) T289A Het
Obsl1 C T 1: 75,467,484 (GRCm39) C1430Y probably damaging Het
Otog T C 7: 45,890,505 (GRCm39) L18P unknown Het
Pkd1l1 C A 11: 8,783,773 (GRCm39) probably null Het
Pum1 T C 4: 130,446,664 (GRCm39) probably null Het
Rhbdl1 A T 17: 26,055,371 (GRCm39) probably null Het
Rmdn2 T A 17: 79,975,425 (GRCm39) L305I possibly damaging Het
Scn3a A G 2: 65,312,493 (GRCm39) probably null Het
Shtn1 G T 19: 58,963,457 (GRCm39) S619R probably damaging Het
Smpd1 G A 7: 105,205,202 (GRCm39) probably null Het
Tepsin A G 11: 119,982,357 (GRCm39) L571S probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tssk5 T C 15: 76,258,856 (GRCm39) D10G probably benign Het
Usp39 A G 6: 72,302,759 (GRCm39) Y432H probably benign Het
Vmn2r97 T A 17: 19,149,227 (GRCm39) V205D probably damaging Het
Vwa8 T C 14: 79,258,122 (GRCm39) V757A probably benign Het
Zc2hc1b A T 10: 13,044,540 (GRCm39) F41Y probably damaging Het
Zfp1007 A G 5: 109,823,924 (GRCm39) S509P probably damaging Het
Zfp114 A T 7: 23,880,463 (GRCm39) S271C 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
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
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'- GAAAGTCCACACCTCTGACTTTCC -3'
(R):5'- CATTAGTGTAGCTCCAGTGGAATAC -3'

Sequencing Primer
(F):5'- ACACCTCTGACTTTCCAGGGAC -3'
(R):5'- CTGAGACAGGGTTTCTCTGTATAGCC -3'
Posted On 2022-07-18