Incidental Mutation 'R2404:Ect2'
| ID |
248850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2
|
| Ensembl Gene |
ENSMUSG00000027699 |
| Gene Name |
ect2 oncogene |
| Synonyms |
|
| MMRRC Submission |
040370-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27151371-27207971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27185999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 495
(P495S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108298]
[ENSMUST00000108300]
[ENSMUST00000176242]
[ENSMUST00000184113]
|
| AlphaFold |
Q07139 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108298
AA Change: P464S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: P464S
| 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: ENSMUST00000108300
AA Change: P495S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: P495S
| 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 benign
Transcript: ENSMUST00000176242
AA Change: P464S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: P464S
| 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 |
0.0634 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,923 (GRCm39) |
T98A |
possibly damaging |
Het |
| Aifm2 |
A |
G |
10: 61,563,974 (GRCm39) |
I161V |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,336,336 (GRCm39) |
M625T |
possibly damaging |
Het |
| Atp9a |
T |
A |
2: 168,517,283 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
C |
10: 122,285,115 (GRCm39) |
F136L |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,245,715 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,618,463 (GRCm39) |
H867Q |
probably benign |
Het |
| Cdh12 |
C |
T |
15: 21,537,720 (GRCm39) |
T407I |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,451,791 (GRCm39) |
T701M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,561,733 (GRCm39) |
V927A |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,328,047 (GRCm39) |
F3353L |
probably damaging |
Het |
| Egfl7 |
G |
A |
2: 26,479,162 (GRCm39) |
E25K |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hbs1l |
A |
T |
10: 21,171,946 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,709,974 (GRCm39) |
T309I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif12 |
A |
C |
4: 63,088,790 (GRCm39) |
L170R |
probably damaging |
Het |
| Krt90 |
A |
G |
15: 101,463,105 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
G |
10: 59,303,526 (GRCm39) |
S104P |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,936,789 (GRCm39) |
P374S |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,287,128 (GRCm39) |
|
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,202,568 (GRCm39) |
I231V |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,546 (GRCm39) |
I173N |
probably damaging |
Het |
| Or2w1b |
T |
C |
13: 21,300,012 (GRCm39) |
L50P |
probably damaging |
Het |
| Or5k17 |
G |
A |
16: 58,745,998 (GRCm39) |
S312L |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,346,899 (GRCm39) |
S158G |
probably benign |
Het |
| Phlpp1 |
C |
T |
1: 106,100,569 (GRCm39) |
T279M |
probably benign |
Het |
| Pkhd1l1 |
T |
G |
15: 44,414,216 (GRCm39) |
W2828G |
probably damaging |
Het |
| Pnma8a |
A |
T |
7: 16,694,316 (GRCm39) |
N57I |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,749 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,522,460 (GRCm39) |
Y531C |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,080,750 (GRCm39) |
T1605A |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,987,267 (GRCm39) |
Y106C |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,756 (GRCm39) |
H87L |
probably benign |
Het |
| Slc4a7 |
G |
T |
14: 14,733,733 (GRCm38) |
V54L |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,216 (GRCm39) |
N1137S |
unknown |
Het |
| Spice1 |
T |
C |
16: 44,186,989 (GRCm39) |
I162T |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,473,390 (GRCm39) |
R173Q |
probably benign |
Het |
| Sqor |
A |
T |
2: 122,649,943 (GRCm39) |
T396S |
probably benign |
Het |
| Tshz3 |
A |
T |
7: 36,469,805 (GRCm39) |
Q598L |
probably damaging |
Het |
| Ttc13 |
C |
T |
8: 125,405,736 (GRCm39) |
|
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,933,851 (GRCm39) |
T187A |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,948,558 (GRCm39) |
|
probably null |
Het |
| Zc3h12a |
T |
C |
4: 125,013,316 (GRCm39) |
Y516C |
probably damaging |
Het |
| Zfp616 |
A |
C |
11: 73,975,682 (GRCm39) |
K650N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTAGAGTAGTGTCTTAAAGCC -3'
(R):5'- AGGGAGCACACTTTCCTTGG -3'
Sequencing Primer
(F):5'- GCCAGAAACATTGTGAGATCTAC -3'
(R):5'- GGCTCTTTCTAGGGTTGCCATC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation