Incidental Mutation 'PIT4458001:Ecsit'
| ID |
555914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecsit
|
| Ensembl Gene |
ENSMUSG00000066839 |
| Gene Name |
ECSIT signalling integrator |
| Synonyms |
Sitpec |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4458001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21983542-21996734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21987580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 153
(H153R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096537
(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: H153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: H153R
| 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: H83R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135936
Gene: ENSMUSG00000066839
AA Change: H83R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
1 |
197 |
4.4e-101 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179422
AA Change: H153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: H153R
| 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: H153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: H153R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECSIT
|
44 |
266 |
6.2e-108 |
PFAM |
|
ECIST_Cterm
|
269 |
394 |
2.19e-72 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 73.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,248,304 (GRCm39) |
V2684L |
probably benign |
Het |
| Adamts9 |
T |
A |
6: 92,866,886 (GRCm39) |
I718F |
probably damaging |
Het |
| Adcyap1r1 |
A |
G |
6: 55,455,067 (GRCm39) |
D110G |
probably benign |
Het |
| Adgrd1 |
G |
A |
5: 129,208,641 (GRCm39) |
G281D |
probably damaging |
Het |
| Afg1l |
A |
T |
10: 42,330,366 (GRCm39) |
C100* |
probably null |
Het |
| Atp2a2 |
G |
A |
5: 122,595,372 (GRCm39) |
Q993* |
probably null |
Het |
| Baz1a |
A |
G |
12: 54,977,095 (GRCm39) |
M389T |
probably benign |
Het |
| Btnl4 |
T |
A |
17: 34,693,242 (GRCm39) |
M58L |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
A |
T |
7: 80,998,180 (GRCm39) |
F533Y |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,308,179 (GRCm39) |
N166K |
possibly damaging |
Het |
| Gbp8 |
T |
C |
5: 105,162,955 (GRCm39) |
K480E |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,625,373 (GRCm39) |
T66S |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,792,124 (GRCm39) |
Q632R |
probably benign |
Het |
| Gm12185 |
C |
T |
11: 48,798,738 (GRCm39) |
R585Q |
probably damaging |
Het |
| Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
| Gm7489 |
A |
C |
15: 53,749,195 (GRCm39) |
E89A |
unknown |
Het |
| Grb7 |
C |
T |
11: 98,344,655 (GRCm39) |
Q353* |
probably null |
Het |
| Ifi207 |
G |
A |
1: 173,562,738 (GRCm39) |
T136I |
unknown |
Het |
| Ighv3-1 |
T |
C |
12: 113,928,224 (GRCm39) |
Y45C |
probably benign |
Het |
| Ing5 |
A |
G |
1: 93,739,668 (GRCm39) |
M92V |
possibly damaging |
Het |
| Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
| Lmo7 |
C |
T |
14: 102,124,923 (GRCm39) |
Q583* |
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,395,338 (GRCm39) |
D29G |
probably benign |
Het |
| Mpdz |
G |
T |
4: 81,337,263 (GRCm39) |
A10D |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,131,821 (GRCm39) |
M94V |
possibly damaging |
Het |
| Nectin2 |
A |
C |
7: 19,472,252 (GRCm39) |
L46V |
probably benign |
Het |
| Nynrin |
A |
T |
14: 56,101,425 (GRCm39) |
T365S |
probably benign |
Het |
| Or4c120 |
A |
T |
2: 89,000,977 (GRCm39) |
I193K |
probably benign |
Het |
| Pde4b |
A |
C |
4: 102,459,875 (GRCm39) |
E570A |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,855,622 (GRCm39) |
H988R |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,763,708 (GRCm39) |
K1234E |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,957,741 (GRCm39) |
M233K |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,577,510 (GRCm39) |
P266S |
unknown |
Het |
| Ralgds |
T |
C |
2: 28,432,486 (GRCm39) |
L160P |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,375,237 (GRCm39) |
M664K |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,570,334 (GRCm39) |
T4930A |
probably benign |
Het |
| Senp8 |
T |
C |
9: 59,644,763 (GRCm39) |
Y131C |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,635,837 (GRCm39) |
I547M |
probably benign |
Het |
| Spata20 |
A |
G |
11: 94,375,434 (GRCm39) |
M120T |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,069,664 (GRCm39) |
H604R |
probably benign |
Het |
| Sycp1 |
A |
T |
3: 102,842,149 (GRCm39) |
S53T |
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,950,022 (GRCm39) |
D62G |
unknown |
Het |
| Trpm1 |
G |
C |
7: 63,918,309 (GRCm39) |
E1434Q |
possibly damaging |
Het |
| Tshb |
A |
T |
3: 102,685,480 (GRCm39) |
Y50N |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,126,614 (GRCm39) |
Y413* |
probably null |
Het |
| Zdhhc16 |
G |
A |
19: 41,926,209 (GRCm39) |
G55R |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACATCCCAGGTAAGTCCTC -3'
(R):5'- AAGCTTCCTGAACGCAGTG -3'
Sequencing Primer
(F):5'- TTCTACAGCCCAAGCCTAATAATTGG -3'
(R):5'- TCATCTACCTAGCACTGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation