Incidental Mutation 'R6157:Ecsit'
| ID |
489650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecsit
|
| Ensembl Gene |
ENSMUSG00000066839 |
| Gene Name |
ECSIT signalling integrator |
| Synonyms |
Sitpec |
| MMRRC Submission |
044304-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21983542-21996734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21985987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 213
(Y213C)
|
| 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 damaging
Transcript: ENSMUST00000098937
AA Change: Y213C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: Y213C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
39 |
267 |
5e-106 |
PFAM |
|
ECIST_Cterm
|
269 |
394 |
2.19e-72 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177967
AA Change: Y143C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135936
Gene: ENSMUSG00000066839
AA Change: Y143C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
1 |
197 |
4.4e-101 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179422
AA Change: Y213C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: Y213C
| 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 damaging
Transcript: ENSMUST00000180180
AA Change: Y213C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: Y213C
| 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: ENSMUST00000216244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216916
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213738
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
93% (40/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,617 (GRCm39) |
K505E |
possibly damaging |
Het |
| Abcb1b |
A |
T |
5: 8,874,245 (GRCm39) |
N390I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,077 (GRCm39) |
M1520L |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,123,400 (GRCm39) |
R396* |
probably null |
Het |
| Atp2a3 |
G |
A |
11: 72,871,442 (GRCm39) |
V648M |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,162,733 (GRCm39) |
D203G |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,363 (GRCm39) |
D13V |
probably damaging |
Het |
| Dnajc10 |
A |
T |
2: 80,147,735 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,250,253 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Dynlt2b |
G |
A |
16: 32,238,660 (GRCm39) |
A12T |
possibly damaging |
Het |
| Fer |
A |
G |
17: 64,385,880 (GRCm39) |
K654R |
probably damaging |
Het |
| Hdac9 |
G |
T |
12: 34,439,428 (GRCm39) |
A383E |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,660 (GRCm39) |
S293T |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,254,648 (GRCm39) |
D2359E |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,571,222 (GRCm39) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,504 (GRCm39) |
N289S |
possibly damaging |
Het |
| Meioc |
T |
C |
11: 102,559,227 (GRCm39) |
S50P |
probably damaging |
Het |
| Mocs1 |
G |
T |
17: 49,761,764 (GRCm39) |
E619D |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,361,371 (GRCm39) |
|
probably benign |
Het |
| Or51i1 |
T |
A |
7: 103,671,105 (GRCm39) |
N140I |
possibly damaging |
Het |
| Pag1 |
A |
T |
3: 9,758,896 (GRCm39) |
H407Q |
probably benign |
Het |
| Plaat1 |
A |
G |
16: 29,036,501 (GRCm39) |
I46M |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
| Pld4 |
C |
T |
12: 112,734,535 (GRCm39) |
T432I |
probably damaging |
Het |
| Psd3 |
T |
G |
8: 68,574,179 (GRCm39) |
M1L |
probably benign |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,885,052 (GRCm39) |
L390P |
probably damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,349,631 (GRCm39) |
E6D |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,672,244 (GRCm39) |
L1409Q |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,601,250 (GRCm39) |
T684A |
probably benign |
Het |
| Smpd4 |
G |
T |
16: 17,458,930 (GRCm39) |
|
probably null |
Het |
| Snx18 |
T |
C |
13: 113,753,725 (GRCm39) |
S403G |
probably damaging |
Het |
| Spsb4 |
G |
T |
9: 96,878,160 (GRCm39) |
H54Q |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,871,072 (GRCm39) |
Y236C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,751,843 (GRCm39) |
S982N |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,675,749 (GRCm39) |
S776P |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,534,744 (GRCm39) |
P2166S |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,279,350 (GRCm39) |
Q83L |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,188 (GRCm39) |
K2458* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,460,467 (GRCm39) |
Y2576F |
probably benign |
Het |
| Xrcc6 |
C |
A |
15: 81,913,305 (GRCm39) |
|
probably null |
Het |
| Zbtb48 |
A |
G |
4: 152,106,064 (GRCm39) |
F380L |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
probably benign |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTAAATAGACTAAGACAGGTCC -3'
(R):5'- TGTTCTTACTGACTTCAAACTTGTG -3'
Sequencing Primer
(F):5'- ACGATCACGGTCACTGTCAG -3'
(R):5'- GTTTAACAAGTCCTGGATCTGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation