Incidental Mutation 'R6474:Ecsit'
| ID |
516737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecsit
|
| Ensembl Gene |
ENSMUSG00000066839 |
| Gene Name |
ECSIT signalling integrator |
| Synonyms |
Sitpec |
| MMRRC Submission |
044607-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21983542-21996734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21985981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 145
(V145A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043922]
[ENSMUST00000098937]
[ENSMUST00000177967]
[ENSMUST00000179422]
[ENSMUST00000179605]
[ENSMUST00000180180]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043922
|
| SMART Domains |
Protein: ENSMUSP00000045895
Gene: ENSMUSG00000038895
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
29 |
41 |
2.28e0 |
SMART |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
467 |
492 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
498 |
522 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
586 |
609 |
1.31e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098937
AA Change: V215A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: V215A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
39 |
267 |
5e-106 |
PFAM |
|
ECIST_Cterm
|
269 |
394 |
2.19e-72 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177967
AA Change: V145A
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135936
Gene: ENSMUSG00000066839
AA Change: V145A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
1 |
197 |
4.4e-101 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179422
AA Change: V215A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: V215A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
39 |
267 |
5e-106 |
PFAM |
|
ECIST_Cterm
|
269 |
394 |
2.19e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179605
|
| SMART Domains |
Protein: ENSMUSP00000137064
Gene: ENSMUSG00000038895
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
29 |
41 |
2.28e0 |
SMART |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
464 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
475 |
500 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
506 |
530 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
564 |
586 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
594 |
617 |
1.31e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180180
AA Change: V215A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: V215A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
44 |
266 |
6.2e-108 |
PFAM |
|
ECIST_Cterm
|
269 |
394 |
2.19e-72 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216270
|
| Meta Mutation Damage Score |
0.4322 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die around the stage of gastrulation showing abnormal epiblast patterning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
| Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
| Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
| Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
| Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
| Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
| Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
| Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
| Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
| Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
| Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
| Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly damaging |
Het |
|
| Other mutations in Ecsit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Ecsit
|
APN |
9 |
21,984,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02114:Ecsit
|
APN |
9 |
21,989,440 (GRCm39) |
splice site |
probably benign |
|
|
IGL02457:Ecsit
|
APN |
9 |
21,989,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03365:Ecsit
|
APN |
9 |
21,987,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
charade
|
UTSW |
9 |
21,984,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hoax
|
UTSW |
9 |
21,987,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4458001:Ecsit
|
UTSW |
9 |
21,987,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Ecsit
|
UTSW |
9 |
21,987,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0051:Ecsit
|
UTSW |
9 |
21,987,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0684:Ecsit
|
UTSW |
9 |
21,987,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1703:Ecsit
|
UTSW |
9 |
21,986,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Ecsit
|
UTSW |
9 |
21,987,815 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1916:Ecsit
|
UTSW |
9 |
21,983,817 (GRCm39) |
missense |
probably benign |
|
|
R2280:Ecsit
|
UTSW |
9 |
21,987,836 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2281:Ecsit
|
UTSW |
9 |
21,987,836 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5983:Ecsit
|
UTSW |
9 |
21,989,443 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6157:Ecsit
|
UTSW |
9 |
21,985,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7977:Ecsit
|
UTSW |
9 |
21,984,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Ecsit
|
UTSW |
9 |
21,984,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Ecsit
|
UTSW |
9 |
21,987,592 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0024:Ecsit
|
UTSW |
9 |
21,986,111 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0025:Ecsit
|
UTSW |
9 |
21,983,700 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATAGACTAAGACAGGTCCAACTG -3'
(R):5'- TGTTCTTACTGACTTCAAACTTGTG -3'
Sequencing Primer
(F):5'- ACGATCACGGTCACTGTCAG -3'
(R):5'- GTTTAACAAGTCCTGGATCTGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation