Incidental Mutation 'IGL02395:Ect2'
| ID |
294308 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ect2
|
| Ensembl Gene |
ENSMUSG00000027699 |
| Gene Name |
ect2 oncogene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
27151371-27207971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27204255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 18
(D18G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139341
(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 damaging
Transcript: ENSMUST00000108298
AA Change: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: D18G
| 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: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: D18G
| 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: ENSMUST00000175857
AA Change: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135208
Gene: ENSMUSG00000027699
AA Change: D18G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
139 |
161 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176242
AA Change: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: D18G
| 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: ENSMUST00000176535
AA Change: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135630
Gene: ENSMUSG00000027699
AA Change: D18G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
140 |
162 |
4e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176780
AA Change: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134786
Gene: ENSMUSG00000027699
AA Change: D18G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gzhb1
|
117 |
174 |
5e-5 |
SMART |
|
Blast:BRCT
|
143 |
174 |
4e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177055
AA Change: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134744
Gene: ENSMUSG00000027699
AA Change: D18G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
139 |
161 |
3e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184113
AA Change: D18G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196926
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,617,496 (GRCm39) |
C540S |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,624,635 (GRCm39) |
V252A |
possibly damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,725 (GRCm39) |
R329Q |
possibly damaging |
Het |
| Dennd2c |
T |
A |
3: 103,065,081 (GRCm39) |
F678I |
probably benign |
Het |
| Efcab11 |
C |
A |
12: 99,820,868 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,387,033 (GRCm39) |
E162G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,622,777 (GRCm39) |
S252P |
probably damaging |
Het |
| Filip1 |
G |
A |
9: 79,805,692 (GRCm39) |
P21S |
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,864,887 (GRCm39) |
D627E |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,385,833 (GRCm39) |
D254G |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,551,853 (GRCm39) |
|
probably null |
Het |
| Mapk15 |
T |
C |
15: 75,870,019 (GRCm39) |
S380P |
probably benign |
Het |
| Mrpl48 |
G |
T |
7: 100,195,551 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,862,078 (GRCm39) |
I184L |
possibly damaging |
Het |
| Nrk |
A |
G |
X: 137,876,935 (GRCm39) |
E712G |
probably damaging |
Het |
| Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
| Or4k6 |
C |
A |
14: 50,475,886 (GRCm39) |
G152V |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,426 (GRCm39) |
T81A |
possibly damaging |
Het |
| Or6z6 |
C |
T |
7: 6,491,802 (GRCm39) |
V17M |
possibly damaging |
Het |
| Plekho1 |
A |
T |
3: 95,902,876 (GRCm39) |
Y36* |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,221,213 (GRCm39) |
H11L |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,471,756 (GRCm39) |
M466K |
possibly damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tnfrsf22 |
A |
T |
7: 143,197,053 (GRCm39) |
N95K |
probably damaging |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,822 (GRCm39) |
Y92C |
probably damaging |
Het |
| Zc2hc1a |
T |
A |
3: 7,593,684 (GRCm39) |
L214* |
probably null |
Het |
| Zcchc17 |
C |
A |
4: 130,230,920 (GRCm39) |
V90F |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,761,868 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,657,187 (GRCm39) |
V821A |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation