Incidental Mutation 'R7417:Ect2'
ID 575361
Institutional Source Beutler Lab
Gene Symbol Ect2
Ensembl Gene ENSMUSG00000027699
Gene Name ect2 oncogene
Synonyms
MMRRC Submission 045495-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7417 (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 27152568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 908 (S908P)
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: S877P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: S877P

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: S908P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: S908P

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 benign
Transcript: ENSMUST00000150061
Predicted Effect probably damaging
Transcript: ENSMUST00000176242
AA Change: S877P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: S877P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,460,057 (GRCm39) T213I probably damaging Het
Akr1b7 G A 6: 34,394,300 (GRCm39) probably null Het
Aldh6a1 T C 12: 84,488,556 (GRCm39) Q110R probably benign Het
Alg11 A T 8: 22,552,044 (GRCm39) T63S probably benign Het
Ankrd13b A G 11: 77,367,020 (GRCm39) Y271H probably damaging Het
Ano8 T A 8: 71,933,477 (GRCm39) D605V unknown Het
Best2 C T 8: 85,736,295 (GRCm39) probably null Het
Brca1 A G 11: 101,415,807 (GRCm39) S776P probably damaging Het
Capn7 T C 14: 31,092,663 (GRCm39) Y737H probably damaging Het
Cblc A T 7: 19,522,899 (GRCm39) S333T probably benign Het
Ccm2 T A 11: 6,543,091 (GRCm39) M257K probably benign Het
Cd320 T A 17: 34,066,530 (GRCm39) C103* probably null Het
Cd53 A G 3: 106,676,235 (GRCm39) F44S probably benign Het
Col9a2 G A 4: 120,911,489 (GRCm39) R610H not run Het
Cubn T C 2: 13,431,778 (GRCm39) I1272V probably benign Het
Cyp2j7 C T 4: 96,090,225 (GRCm39) probably null Het
Dmrt2 A T 19: 25,655,962 (GRCm39) R520S probably benign Het
Dnai3 A T 3: 145,798,835 (GRCm39) probably null Het
Drg2 A G 11: 60,345,506 (GRCm39) M1V probably null Het
Eipr1 A G 12: 28,916,954 (GRCm39) T341A probably benign Het
Ell3 A C 2: 121,270,891 (GRCm39) I214R probably benign Het
Emsy A T 7: 98,264,693 (GRCm39) L568Q probably damaging Het
Foxd4 T C 19: 24,877,826 (GRCm39) T125A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Gcsam C A 16: 45,440,240 (GRCm39) H94Q probably damaging Het
Ginm1 T A 10: 7,649,844 (GRCm39) I150F probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hk2 G A 6: 82,720,326 (GRCm39) A205V probably damaging Het
Il3ra A T 14: 14,349,345 (GRCm38) H147L probably benign Het
Map3k6 T A 4: 132,975,707 (GRCm39) S732T probably benign Het
Masp2 A G 4: 148,690,178 (GRCm39) E229G probably benign Het
Mccc2 A G 13: 100,108,285 (GRCm39) probably null Het
Mia3 A G 1: 183,108,508 (GRCm39) V359A Het
Mob1a A T 6: 83,309,492 (GRCm39) T80S probably benign Het
Msantd2 G A 9: 37,434,590 (GRCm39) G478S probably damaging Het
Mtf1 A G 4: 124,718,974 (GRCm39) E329G probably null Het
Myh9 T A 15: 77,648,065 (GRCm39) K1804* probably null Het
Ndst3 A G 3: 123,465,313 (GRCm39) W220R probably damaging Het
Nln A G 13: 104,173,478 (GRCm39) L576P probably damaging Het
Nlrc4 A G 17: 74,753,483 (GRCm39) M300T probably benign Het
Obscn G T 11: 59,020,403 (GRCm39) D880E possibly damaging Het
Oprd1 T C 4: 131,844,763 (GRCm39) T82A probably damaging Het
Or2n1d T A 17: 38,646,183 (GRCm39) I45N probably damaging Het
Or4f60 A C 2: 111,902,445 (GRCm39) V161G probably benign Het
Orc3 A G 4: 34,595,136 (GRCm39) C278R probably damaging Het
Pde4d T A 13: 109,769,322 (GRCm39) probably null Het
Pms1 T C 1: 53,236,231 (GRCm39) E683G probably benign Het
Prdm2 A T 4: 142,905,869 (GRCm39) Y73N probably damaging Het
Prkaa2 T C 4: 104,932,740 (GRCm39) Q36R probably benign Het
Psg22 A G 7: 18,456,891 (GRCm39) E258G probably damaging Het
Ptprf T C 4: 118,069,369 (GRCm39) D1566G probably damaging Het
Rfwd3 T A 8: 111,999,701 (GRCm39) Y759F probably benign Het
Ripor2 A G 13: 24,880,533 (GRCm39) D411G probably damaging Het
Ryr2 A C 13: 11,571,634 (GRCm39) probably null Het
Sdr42e1 T C 8: 118,389,490 (GRCm39) T384A probably benign Het
Sec1 A T 7: 45,334,149 (GRCm39) probably null Het
Sec16a A T 2: 26,311,409 (GRCm39) F616I Het
Sipa1l2 T C 8: 126,208,845 (GRCm39) D521G possibly damaging Het
Smc1b T A 15: 84,981,743 (GRCm39) Q759L probably benign Het
Snph A T 2: 151,442,263 (GRCm39) S57R probably damaging Het
Sqor A T 2: 122,629,450 (GRCm39) T103S probably benign Het
Srbd1 A G 17: 86,443,749 (GRCm39) V159A probably benign Het
Srsf2 A T 11: 116,743,727 (GRCm39) V10E probably damaging Het
Swap70 T A 7: 109,863,316 (GRCm39) probably null Het
Synm A C 7: 67,382,954 (GRCm39) *675G probably null Het
Tek A G 4: 94,699,582 (GRCm39) E320G probably benign Het
Tenm3 T C 8: 48,689,218 (GRCm39) D2123G probably damaging Het
Tmod4 A G 3: 95,033,174 (GRCm39) K56R possibly damaging Het
Top3b G A 16: 16,695,714 (GRCm39) probably benign Het
Tssc4 G T 7: 142,624,425 (GRCm39) E244D possibly damaging Het
Twnk G A 19: 44,999,003 (GRCm39) probably null Het
Ube4a A C 9: 44,868,011 (GRCm39) I45S probably benign Het
Unc79 A T 12: 103,055,017 (GRCm39) M954L possibly damaging Het
Vcpip1 A T 1: 9,816,540 (GRCm39) D614E probably benign Het
Vmn1r45 T A 6: 89,910,035 (GRCm39) I312L probably benign Het
Vmn1r77 A G 7: 11,775,611 (GRCm39) Y129C probably damaging Het
Zer1 A G 2: 29,992,834 (GRCm39) L600P probably damaging Het
Zfp266 T C 9: 20,412,232 (GRCm39) T114A probably benign Het
Zrsr2-ps1 T C 11: 22,924,662 (GRCm39) probably null 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
R7257:Ect2 UTSW 3 27,192,684 (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'- ACTGGTCTTCAGATGTGAGATTC -3'
(R):5'- TAAAGAGTCTGGAACTGTTAGTGTC -3'

Sequencing Primer
(F):5'- AAAACGGCGTTGGTTAG -3'
(R):5'- AACTGTTAGTGTCTTGATTGTCATG -3'
Posted On 2019-10-07