Incidental Mutation 'R3890:Ect2'
| ID |
310323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2
|
| Ensembl Gene |
ENSMUSG00000027699 |
| Gene Name |
ect2 oncogene |
| Synonyms |
|
| MMRRC Submission |
040802-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3890 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27151371-27207971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27192689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 387
(D387G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108298]
[ENSMUST00000108300]
[ENSMUST00000176242]
[ENSMUST00000184113]
|
| AlphaFold |
Q07139 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108296
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108298
AA Change: D387G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: D387G
| 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: D418G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: D418G
| 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 |
noncoding transcript
Transcript: ENSMUST00000124727
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176242
AA Change: D387G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: D387G
| 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 |
0.2134 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,604,700 (GRCm39) |
Y201C |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,676,136 (GRCm39) |
T624A |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,693,557 (GRCm39) |
S2G |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,564,043 (GRCm39) |
V762A |
possibly damaging |
Het |
| Cacna1e |
C |
T |
1: 154,359,299 (GRCm39) |
R265Q |
probably damaging |
Het |
| Cckbr |
A |
C |
7: 105,075,376 (GRCm39) |
T49P |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
| Cntrl |
T |
G |
2: 35,060,492 (GRCm39) |
C1342G |
probably benign |
Het |
| Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,779,310 (GRCm39) |
S598P |
probably damaging |
Het |
| Deup1 |
A |
G |
9: 15,511,009 (GRCm39) |
Y257H |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fmo4 |
A |
T |
1: 162,621,624 (GRCm39) |
I529N |
probably benign |
Het |
| Frs3 |
A |
G |
17: 48,014,360 (GRCm39) |
D351G |
probably damaging |
Het |
| Gcat |
T |
A |
15: 78,921,376 (GRCm39) |
V378D |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
| Hspa4l |
A |
T |
3: 40,736,026 (GRCm39) |
Q570L |
possibly damaging |
Het |
| Ifi213 |
A |
G |
1: 173,394,822 (GRCm39) |
I571T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
| Mettl1 |
T |
C |
10: 126,880,998 (GRCm39) |
|
probably null |
Het |
| Mettl15 |
A |
G |
2: 109,021,924 (GRCm39) |
I127T |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,046,444 (GRCm39) |
L322P |
probably damaging |
Het |
| Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
| Mobp |
G |
A |
9: 119,997,022 (GRCm39) |
C51Y |
probably damaging |
Het |
| Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,251,324 (GRCm39) |
E210G |
probably damaging |
Het |
| Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
| Or7e165 |
T |
G |
9: 19,695,011 (GRCm39) |
I194S |
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,328,588 (GRCm39) |
N240S |
probably null |
Het |
| Pdxdc1 |
T |
C |
16: 13,654,312 (GRCm39) |
T759A |
probably benign |
Het |
| Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
| Prdm15 |
T |
C |
16: 97,600,771 (GRCm39) |
H829R |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,465,804 (GRCm39) |
H382Q |
possibly damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,536 (GRCm39) |
F956I |
probably damaging |
Het |
| Samd1 |
G |
A |
8: 84,724,361 (GRCm39) |
|
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,527,705 (GRCm39) |
S592T |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,898,094 (GRCm39) |
V540A |
probably benign |
Het |
| Slfn8 |
G |
A |
11: 82,895,270 (GRCm39) |
T512I |
possibly damaging |
Het |
| Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
| Sorl1 |
G |
A |
9: 41,915,401 (GRCm39) |
T1276M |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
| Speer4f1 |
T |
C |
5: 17,684,500 (GRCm39) |
I176T |
probably damaging |
Het |
| Spint1 |
T |
C |
2: 119,079,283 (GRCm39) |
I455T |
probably benign |
Het |
| Srp54a |
A |
G |
12: 55,135,978 (GRCm39) |
|
probably null |
Het |
| Stoml3 |
T |
A |
3: 53,414,875 (GRCm39) |
N222K |
probably damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tanc2 |
A |
T |
11: 105,689,504 (GRCm39) |
D222V |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,646,785 (GRCm39) |
E80G |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,418,336 (GRCm39) |
S631L |
probably benign |
Het |
| Vmn2r73 |
G |
A |
7: 85,507,144 (GRCm39) |
H723Y |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,769,237 (GRCm39) |
E2076G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAATCTAGGAATTATAAGGG -3'
(R):5'- ACTCCTGAGCTCAAGAAATCGG -3'
Sequencing Primer
(F):5'- GGTAGACTACCCAGCTACGCTC -3'
(R):5'- CTGAGCTCAAGAAATCGGTGTCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation