Incidental Mutation 'R6850:Ect2'
| ID |
535581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2
|
| Ensembl Gene |
ENSMUSG00000027699 |
| Gene Name |
ect2 oncogene |
| Synonyms |
|
| MMRRC Submission |
044954-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27151371-27207971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27193034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 344
(D344G)
|
| 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: D313G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: D313G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D344G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: D344G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D313G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: D313G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.5030 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,270,318 (GRCm39) |
M927V |
probably benign |
Het |
| Agr2 |
A |
G |
12: 36,045,558 (GRCm39) |
I15V |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,523,012 (GRCm39) |
I10T |
possibly damaging |
Het |
| Art5 |
A |
G |
7: 101,747,302 (GRCm39) |
V159A |
possibly damaging |
Het |
| Asz1 |
G |
A |
6: 18,108,942 (GRCm39) |
R32W |
probably benign |
Het |
| Atp8b1 |
A |
C |
18: 64,689,923 (GRCm39) |
M603R |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Car9 |
A |
G |
4: 43,507,321 (GRCm39) |
E3G |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,535,231 (GRCm39) |
I267N |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,057,535 (GRCm39) |
F57I |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,604 (GRCm39) |
K980R |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,369,137 (GRCm39) |
G4303W |
possibly damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,947,600 (GRCm39) |
N485D |
probably benign |
Het |
| Dusp4 |
A |
T |
8: 35,283,651 (GRCm39) |
K166* |
probably null |
Het |
| Eif2b1 |
T |
C |
5: 124,717,069 (GRCm39) |
D3G |
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,594,041 (GRCm39) |
Y710H |
probably damaging |
Het |
| Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,152 (GRCm39) |
L263P |
probably damaging |
Het |
| Iqcn |
A |
T |
8: 71,163,425 (GRCm39) |
N873Y |
probably damaging |
Het |
| Itga7 |
A |
T |
10: 128,781,385 (GRCm39) |
I621F |
probably damaging |
Het |
| Kcna3 |
A |
T |
3: 106,944,475 (GRCm39) |
D246V |
probably damaging |
Het |
| Kctd12 |
C |
T |
14: 103,219,414 (GRCm39) |
G155S |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 28,749,407 (GRCm39) |
V256A |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,059,476 (GRCm39) |
F629L |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,399,019 (GRCm39) |
F999L |
probably damaging |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 58,892,955 (GRCm39) |
A6764T |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,958,950 (GRCm39) |
V3643M |
possibly damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,650 (GRCm39) |
C167* |
probably null |
Het |
| Or8g18 |
T |
C |
9: 39,149,271 (GRCm39) |
I150V |
probably benign |
Het |
| Pdhx |
T |
C |
2: 102,871,445 (GRCm39) |
H195R |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,086,182 (GRCm39) |
V511E |
probably damaging |
Het |
| Prima1 |
C |
T |
12: 103,163,594 (GRCm39) |
D126N |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,099,552 (GRCm39) |
D1685E |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,981,291 (GRCm39) |
I525F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,441 (GRCm39) |
F259I |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,058,808 (GRCm39) |
D216E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,330,815 (GRCm39) |
L1240Q |
possibly damaging |
Het |
| Sohlh2 |
A |
T |
3: 55,099,707 (GRCm39) |
T160S |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spata31h1 |
A |
C |
10: 82,128,888 (GRCm39) |
M1374R |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,480,346 (GRCm39) |
E294G |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,392,885 (GRCm39) |
Y187F |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,192,857 (GRCm39) |
M199K |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,695,515 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
A |
9: 42,255,134 (GRCm39) |
D1683V |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,695,980 (GRCm39) |
I137T |
possibly damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,541 (GRCm39) |
L105* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,182,519 (GRCm39) |
G568S |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,853,758 (GRCm39) |
T390A |
probably benign |
Het |
| Wdr97 |
A |
G |
15: 76,241,996 (GRCm39) |
Y763C |
probably damaging |
Het |
| Zfp35 |
G |
A |
18: 24,135,839 (GRCm39) |
R61H |
possibly damaging |
Het |
|
| Other mutations in Ect2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TCTTGAGCTCAGGAGTATTAGCC -3'
(R):5'- GGGATGAAAGGTGCACTCAC -3'
Sequencing Primer
(F):5'- GAGTATTAGCCTGAAATCAAAAGCAC -3'
(R):5'- GTGCACTCACCTTATTGTTGAAGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation