Incidental Mutation 'R0051:Ecsit'
ID |
15994 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ecsit
|
Ensembl Gene |
ENSMUSG00000066839 |
Gene Name |
ECSIT signalling integrator |
Synonyms |
Sitpec |
MMRRC Submission |
038345-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0051 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
21983542-21996734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 21987584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 152
(V152I)
|
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: V152I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000096537 Gene: ENSMUSG00000066839 AA Change: V152I
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
AA Change: V82I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000135936 Gene: ENSMUSG00000066839 AA Change: V82I
Domain | Start | End | E-Value | Type |
Pfam:ECSIT
|
1 |
197 |
4.4e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179422
AA Change: V152I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000137424 Gene: ENSMUSG00000066839 AA Change: V152I
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: V152I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000136247 Gene: ENSMUSG00000066839 AA Change: V152I
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
|
Meta Mutation Damage Score |
0.0829 |
Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.7%
- 10x: 76.8%
- 20x: 60.8%
|
Validation Efficiency |
84% (69/82) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6330444E15Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
Galnt14 |
C |
A |
17: 73,814,854 (GRCm39) |
R403L |
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
Mrpl4 |
C |
A |
9: 20,918,964 (GRCm39) |
T203K |
probably damaging |
Het |
Mtrf1l |
T |
C |
10: 5,763,382 (GRCm39) |
K316E |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,349,422 (GRCm39) |
N2361K |
probably benign |
Het |
Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
Ptprn |
A |
G |
1: 75,228,898 (GRCm39) |
|
probably null |
Het |
Rab37 |
T |
C |
11: 115,049,491 (GRCm39) |
L100P |
probably damaging |
Het |
Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Syna |
A |
G |
5: 134,588,397 (GRCm39) |
L184P |
probably damaging |
Het |
Tbx10 |
T |
C |
19: 4,046,798 (GRCm39) |
|
probably null |
Het |
Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,484,865 (GRCm39) |
V53A |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
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 |
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 |
2013-01-08 |