Incidental Mutation 'R7257:Ect2'
ID 564319
Institutional Source Beutler Lab
Gene Symbol Ect2
Ensembl Gene ENSMUSG00000027699
Gene Name ect2 oncogene
Synonyms
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 27151371-27207971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27192684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 420 (S420P)
Ref Sequence ENSEMBL: ENSMUSP00000103935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108298] [ENSMUST00000108300] [ENSMUST00000176242] [ENSMUST00000184113]
AlphaFold Q07139
Predicted Effect probably damaging
Transcript: ENSMUST00000108298
AA Change: S389P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: S389P

DomainStartEndE-ValueType
BRCT 143 219 1.45e-10 SMART
BRCT 237 313 2.52e-10 SMART
low complexity region 331 341 N/A INTRINSIC
RhoGEF 425 609 3.22e-67 SMART
Blast:PH 636 763 9e-81 BLAST
low complexity region 825 839 N/A INTRINSIC
low complexity region 856 865 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108300
AA Change: S420P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: S420P

DomainStartEndE-ValueType
BRCT 174 250 1.45e-10 SMART
BRCT 268 344 2.52e-10 SMART
low complexity region 362 372 N/A INTRINSIC
RhoGEF 456 640 3.22e-67 SMART
Blast:PH 667 794 1e-80 BLAST
low complexity region 856 870 N/A INTRINSIC
low complexity region 887 896 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176242
AA Change: S389P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: S389P

DomainStartEndE-ValueType
BRCT 143 219 1.45e-10 SMART
BRCT 237 313 2.52e-10 SMART
low complexity region 331 341 N/A INTRINSIC
RhoGEF 425 609 3.22e-67 SMART
Blast:PH 636 763 9e-81 BLAST
low complexity region 825 839 N/A INTRINSIC
low complexity region 856 865 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184113
Meta Mutation Damage Score 0.2606 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Homozygous disruption of this locus is embryonic lethal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y probably damaging Het
Other mutations in Ect2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Ect2 APN 3 27,192,818 (GRCm39) missense probably benign 0.04
IGL00770:Ect2 APN 3 27,152,592 (GRCm39) missense probably damaging 0.99
IGL00774:Ect2 APN 3 27,152,592 (GRCm39) missense probably damaging 0.99
IGL01414:Ect2 APN 3 27,181,878 (GRCm39) splice site probably benign
IGL02017:Ect2 APN 3 27,176,193 (GRCm39) nonsense probably null
IGL02318:Ect2 APN 3 27,192,868 (GRCm39) missense probably benign 0.16
IGL02395:Ect2 APN 3 27,204,255 (GRCm39) missense probably damaging 1.00
IGL03109:Ect2 APN 3 27,199,121 (GRCm39) missense possibly damaging 0.88
IGL03178:Ect2 APN 3 27,203,009 (GRCm39) missense probably benign 0.03
IGL03055:Ect2 UTSW 3 27,191,211 (GRCm39) missense probably damaging 1.00
PIT4504001:Ect2 UTSW 3 27,181,097 (GRCm39) nonsense probably null
R0090:Ect2 UTSW 3 27,192,651 (GRCm39) missense probably null 0.08
R0090:Ect2 UTSW 3 27,169,625 (GRCm39) missense probably benign 0.00
R0436:Ect2 UTSW 3 27,204,244 (GRCm39) missense probably benign 0.11
R0620:Ect2 UTSW 3 27,193,801 (GRCm39) missense probably damaging 0.99
R1847:Ect2 UTSW 3 27,204,221 (GRCm39) missense probably benign 0.01
R2404:Ect2 UTSW 3 27,185,999 (GRCm39) missense probably benign 0.00
R3890:Ect2 UTSW 3 27,192,689 (GRCm39) missense probably damaging 1.00
R3951:Ect2 UTSW 3 27,184,269 (GRCm39) missense probably benign 0.00
R4588:Ect2 UTSW 3 27,201,149 (GRCm39) missense probably damaging 1.00
R4754:Ect2 UTSW 3 27,181,112 (GRCm39) missense probably damaging 1.00
R5051:Ect2 UTSW 3 27,156,635 (GRCm39) missense probably benign
R5254:Ect2 UTSW 3 27,184,219 (GRCm39) missense probably damaging 1.00
R5415:Ect2 UTSW 3 27,201,002 (GRCm39) missense probably damaging 1.00
R5786:Ect2 UTSW 3 27,201,102 (GRCm39) missense probably damaging 1.00
R5940:Ect2 UTSW 3 27,169,614 (GRCm39) missense probably benign 0.01
R5974:Ect2 UTSW 3 27,199,112 (GRCm39) nonsense probably null
R6012:Ect2 UTSW 3 27,152,474 (GRCm39) utr 3 prime probably benign
R6434:Ect2 UTSW 3 27,193,268 (GRCm39) nonsense probably null
R6447:Ect2 UTSW 3 27,169,633 (GRCm39) missense probably damaging 1.00
R6850:Ect2 UTSW 3 27,193,034 (GRCm39) missense probably damaging 1.00
R6989:Ect2 UTSW 3 27,156,637 (GRCm39) nonsense probably null
R7147:Ect2 UTSW 3 27,204,239 (GRCm39) missense probably benign 0.12
R7417:Ect2 UTSW 3 27,152,568 (GRCm39) missense probably damaging 1.00
R7564:Ect2 UTSW 3 27,170,272 (GRCm39) intron probably benign
R7662:Ect2 UTSW 3 27,185,947 (GRCm39) missense probably damaging 0.99
R8720:Ect2 UTSW 3 27,169,647 (GRCm39) missense probably damaging 0.98
R8886:Ect2 UTSW 3 27,200,126 (GRCm39) unclassified probably benign
R8967:Ect2 UTSW 3 27,199,132 (GRCm39) missense probably damaging 1.00
R9619:Ect2 UTSW 3 27,201,026 (GRCm39) missense probably benign 0.08
R9741:Ect2 UTSW 3 27,156,607 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CTCCACTTGCCCAATCTAGG -3'
(R):5'- TCAAGAAATCGGTGTCTCTGC -3'

Sequencing Primer
(F):5'- CTTGCCCAATCTAGGAATTATAAGGG -3'
(R):5'- GCTTTCTCTAAGTACTCCAAACAG -3'
Posted On 2019-06-26