Incidental Mutation 'IGL00164:Ecsit'
| ID |
1339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ecsit
|
| Ensembl Gene |
ENSMUSG00000066839 |
| Gene Name |
ECSIT signalling integrator |
| Synonyms |
Sitpec |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21983542-21996734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21984310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 340
(G340D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136247
(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 |
probably benign
Transcript: ENSMUST00000098937
AA Change: G340D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: G340D
| 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: ENSMUST00000177967
|
| SMART Domains |
Protein: ENSMUSP00000135936
Gene: ENSMUSG00000066839
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
1 |
197 |
4.4e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179422
AA Change: G340D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: G340D
| 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 |
probably benign
Transcript: ENSMUST00000180180
AA Change: G340D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: G340D
| 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: ENSMUST00000216270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216244
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216916
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
| Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
| Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
| Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
| Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
| Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
| Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
| Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
| Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
| Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
| Other mutations in Ecsit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6474:Ecsit
|
UTSW |
9 |
21,985,981 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation