Incidental Mutation 'PIT4504001:Ect2'
| ID |
555993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2
|
| Ensembl Gene |
ENSMUSG00000027699 |
| Gene Name |
ect2 oncogene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4504001 (G1)
|
| Quality Score |
117.008 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27151371-27207971 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 27181097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 586
(R586*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108298]
[ENSMUST00000108300]
[ENSMUST00000176242]
[ENSMUST00000184113]
|
| AlphaFold |
Q07139 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000108298
AA Change: R555*
|
| SMART Domains |
Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: R555*
| 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 null
Transcript: ENSMUST00000108300
AA Change: R586*
|
| SMART Domains |
Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: R586*
| 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 null
Transcript: ENSMUST00000176242
AA Change: R555*
|
| SMART Domains |
Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: R555*
| 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
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
A |
2: 103,547,537 (GRCm39) |
C970* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,707,471 (GRCm39) |
P1312S |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,356,706 (GRCm39) |
I116T |
probably damaging |
Het |
| Bank1 |
C |
A |
3: 135,806,180 (GRCm39) |
D485Y |
probably damaging |
Het |
| Cbln3 |
C |
T |
14: 56,120,956 (GRCm39) |
V122M |
probably damaging |
Het |
| Cox10 |
C |
T |
11: 63,855,042 (GRCm39) |
C413Y |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,823 (GRCm39) |
D44V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,911,529 (GRCm39) |
N483K |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,580,785 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,411,147 (GRCm39) |
T470A |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 138,967,742 (GRCm39) |
V44A |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,716,846 (GRCm39) |
V154F |
possibly damaging |
Het |
| Ermard |
T |
A |
17: 15,279,084 (GRCm39) |
C460* |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,146,936 (GRCm39) |
G4020D |
possibly damaging |
Het |
| Flacc1 |
T |
A |
1: 58,698,258 (GRCm39) |
I348F |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,639,191 (GRCm39) |
E402* |
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,534,258 (GRCm39) |
D282A |
probably damaging |
Het |
| Gm6741 |
C |
T |
17: 91,544,344 (GRCm39) |
Q36* |
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,221,720 (GRCm39) |
L103Q |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,112,411 (GRCm39) |
T792A |
possibly damaging |
Het |
| Hemgn |
T |
C |
4: 46,395,863 (GRCm39) |
N458D |
probably benign |
Het |
| Hesx1 |
C |
A |
14: 26,723,838 (GRCm39) |
D140E |
probably benign |
Het |
| Hjv |
A |
T |
3: 96,435,813 (GRCm39) |
D357V |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il33 |
A |
T |
19: 29,930,139 (GRCm39) |
H78L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,768,564 (GRCm39) |
D691V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,131,369 (GRCm39) |
N1945I |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,305,747 (GRCm39) |
D2938G |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,756,403 (GRCm39) |
Y726F |
probably benign |
Het |
| Magi3 |
G |
T |
3: 103,922,842 (GRCm39) |
Q1292K |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,692,324 (GRCm39) |
F546L |
probably damaging |
Het |
| Mrpl14 |
A |
G |
17: 46,009,147 (GRCm39) |
K82R |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,271,653 (GRCm39) |
V172A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,023,948 (GRCm39) |
I574N |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,460,060 (GRCm39) |
T194A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,671 (GRCm39) |
T134S |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,054,864 (GRCm39) |
V649D |
probably benign |
Het |
| Pdlim2 |
G |
T |
14: 70,403,579 (GRCm39) |
P278T |
probably benign |
Het |
| Pm20d2 |
A |
C |
4: 33,183,152 (GRCm39) |
L223V |
probably damaging |
Het |
| Pmpcb |
G |
T |
5: 21,948,388 (GRCm39) |
R223L |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,256,759 (GRCm39) |
Y255* |
probably null |
Het |
| Rims1 |
T |
A |
1: 22,467,684 (GRCm39) |
I317L |
|
Het |
| Scnn1g |
C |
A |
7: 121,341,554 (GRCm39) |
H239N |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,010,426 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,746,692 (GRCm39) |
F1038I |
probably damaging |
Het |
| Tshz2 |
T |
C |
2: 169,727,971 (GRCm39) |
F856L |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,508 (GRCm39) |
S715P |
unknown |
Het |
| Usp13 |
A |
C |
3: 32,959,579 (GRCm39) |
S557R |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,370,169 (GRCm39) |
S43T |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,397 (GRCm39) |
Y308N |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,346,685 (GRCm39) |
D32G |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,634,225 (GRCm39) |
|
probably null |
Het |
| Zfr |
A |
G |
15: 12,166,244 (GRCm39) |
E838G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGCAAAACTCAGAATTTGTAGC -3'
(R):5'- TGCAGGTCAGAAGTTCGTTAACC -3'
Sequencing Primer
(F):5'- ATCATGATCAGCTGGGCTAC -3'
(R):5'- GGTCAGAAGTTCGTTAACCTTTGACC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation