Incidental Mutation 'R5974:Ect2'
ID 471596
Institutional Source Beutler Lab
Gene Symbol Ect2
Ensembl Gene ENSMUSG00000027699
Gene Name ect2 oncogene
Synonyms
MMRRC Submission 044157-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5974 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 27151371-27207971 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 27199112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 194 (E194*)
Ref Sequence ENSEMBL: ENSMUSP00000135740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108298] [ENSMUST00000108300] [ENSMUST00000175857] [ENSMUST00000176242] [ENSMUST00000176535] [ENSMUST00000176780] [ENSMUST00000177055] [ENSMUST00000184113]
AlphaFold Q07139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108296
Predicted Effect probably null
Transcript: ENSMUST00000108298
AA Change: E194*
SMART Domains Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: E194*

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 null
Transcript: ENSMUST00000108300
AA Change: E225*
SMART Domains Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: E225*

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: ENSMUST00000175857
SMART Domains Protein: ENSMUSP00000135208
Gene: ENSMUSG00000027699

DomainStartEndE-ValueType
Blast:BRCT 139 161 2e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000176242
AA Change: E194*
SMART Domains Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: E194*

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: ENSMUST00000176535
SMART Domains Protein: ENSMUSP00000135630
Gene: ENSMUSG00000027699

DomainStartEndE-ValueType
Blast:BRCT 140 162 4e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196926
Predicted Effect probably benign
Transcript: ENSMUST00000176780
SMART Domains Protein: ENSMUSP00000134786
Gene: ENSMUSG00000027699

DomainStartEndE-ValueType
SCOP:d1gzhb1 117 174 5e-5 SMART
Blast:BRCT 143 174 4e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177055
SMART Domains Protein: ENSMUSP00000134744
Gene: ENSMUSG00000027699

DomainStartEndE-ValueType
Blast:BRCT 139 161 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184113
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc4 T C 5: 53,002,742 (GRCm39) L261P probably damaging Het
Aqp6 A G 15: 99,499,317 (GRCm39) Y10C probably benign Het
Ccnb1ip1 A T 14: 51,029,662 (GRCm39) N133K probably benign Het
Clip4 A T 17: 72,138,242 (GRCm39) H433L probably damaging Het
Cntnap5c T A 17: 58,183,480 (GRCm39) M62K probably benign Het
Col12a1 A G 9: 79,589,409 (GRCm39) S1049P probably damaging Het
Col15a1 C T 4: 47,258,683 (GRCm39) T358I probably benign Het
Coro7 A T 16: 4,449,753 (GRCm39) D645E possibly damaging Het
Ctnnal1 C A 4: 56,817,067 (GRCm39) W585L probably damaging Het
Ctnnd1 C A 2: 84,451,259 (GRCm39) E114* probably null Het
Daam2 T A 17: 49,771,501 (GRCm39) S882C probably damaging Het
Des T A 1: 75,339,628 (GRCm39) S329T probably benign Het
Dido1 T C 2: 180,313,290 (GRCm39) D994G probably benign Het
Dock3 A G 9: 106,871,261 (GRCm39) V547A probably damaging Het
Ebf4 G A 2: 130,207,484 (GRCm39) A643T probably damaging Het
Epb41l2 A G 10: 25,317,713 (GRCm39) I77V possibly damaging Het
Fat3 A T 9: 15,917,824 (GRCm39) probably null Het
Fbn2 T G 18: 58,181,992 (GRCm39) D1803A probably damaging Het
Fbxo10 T C 4: 45,040,631 (GRCm39) E858G probably benign Het
Fbxo24 C T 5: 137,617,912 (GRCm39) R284Q probably benign Het
Fsip2 T A 2: 82,793,657 (GRCm39) I425N possibly damaging Het
Fut9 A C 4: 25,620,090 (GRCm39) Y241* probably null Het
Galr2 A G 11: 116,173,852 (GRCm39) S161G possibly damaging Het
Gcc2 T A 10: 58,094,065 (GRCm39) L14I probably damaging Het
H2-T15 A T 17: 36,367,677 (GRCm39) D220E probably benign Het
Hdac11 G A 6: 91,150,196 (GRCm39) V332I probably benign Het
Hdac7 T C 15: 97,699,953 (GRCm39) probably null Het
Kif16b C T 2: 142,699,301 (GRCm39) G93D probably damaging Het
Krtap11-1 C A 16: 89,367,656 (GRCm39) C121F possibly damaging Het
Lacc1 T C 14: 77,272,517 (GRCm39) Q93R probably damaging Het
Lama1 T C 17: 68,080,722 (GRCm39) F1250S probably benign Het
Lmbrd2 A G 15: 9,172,202 (GRCm39) E332G probably benign Het
Lrp2 C A 2: 69,289,892 (GRCm39) C3649F probably damaging Het
Map1a T C 2: 121,134,857 (GRCm39) V1653A probably benign Het
Mrpl1 T C 5: 96,379,653 (GRCm39) probably null Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Nedd4 T A 9: 72,650,920 (GRCm39) probably null Het
Negr1 T A 3: 156,774,923 (GRCm39) V213E probably damaging Het
Nlk T G 11: 78,481,792 (GRCm39) Q223P probably benign Het
Ntn5 A G 7: 45,340,848 (GRCm39) H162R probably damaging Het
Nup42 T C 5: 24,372,400 (GRCm39) S63P probably damaging Het
Obscn C A 11: 58,967,373 (GRCm39) D477Y probably damaging Het
Or12d12 A T 17: 37,611,229 (GRCm39) I28N possibly damaging Het
Or5an1 T C 19: 12,261,200 (GRCm39) S263P probably damaging Het
Or8u10 T C 2: 85,915,225 (GRCm39) S299G probably benign Het
Pabpn1 A G 14: 55,134,617 (GRCm39) T280A probably damaging Het
Per3 A T 4: 151,127,194 (GRCm39) V109E possibly damaging Het
Pira2 A C 7: 3,844,576 (GRCm39) V485G probably benign Het
Pknox2 A G 9: 36,847,618 (GRCm39) L133P probably damaging Het
Pros1 A C 16: 62,721,030 (GRCm39) N195T probably damaging Het
Rffl T C 11: 82,696,977 (GRCm39) K289E probably damaging Het
Ripk1 T A 13: 34,214,084 (GRCm39) Y475* probably null Het
Ryr2 A G 13: 11,729,397 (GRCm39) probably null Het
Sgk1 T A 10: 21,872,148 (GRCm39) N241K probably damaging Het
Skint1 T A 4: 111,876,516 (GRCm39) S146T probably benign Het
Sox30 G T 11: 45,871,900 (GRCm39) D252Y probably damaging Het
Syngap1 A G 17: 27,182,012 (GRCm39) Y1002C probably damaging Het
Tiam2 A G 17: 3,465,084 (GRCm39) D271G possibly damaging Het
Ticam1 T C 17: 56,578,178 (GRCm39) T306A probably benign Het
Tmem252 A G 19: 24,651,632 (GRCm39) E67G probably benign Het
Tnxb T G 17: 34,904,681 (GRCm39) F1149V probably damaging Het
Ubr4 A G 4: 139,148,389 (GRCm39) probably null Het
Unc50 A G 1: 37,476,290 (GRCm39) D150G probably benign Het
Ywhag A C 5: 135,940,483 (GRCm39) L37R probably damaging Het
Zfp296 T C 7: 19,311,862 (GRCm39) L123P probably benign Het
Zfp418 G T 7: 7,185,199 (GRCm39) Q387H possibly damaging Het
Zfp882 T C 8: 72,666,999 (GRCm39) F53L 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
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
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'- ACGTACCATCAACAGAGGAGTG -3'
(R):5'- TCAGAGTTGGTTGCCTATTATTAGC -3'

Sequencing Primer
(F):5'- AGCCAGGCTTGGTAGATCATGC -3'
(R):5'- GCTTAATACTCTGTGTATTGC -3'
Posted On 2017-03-31