Incidental Mutation 'IGL01713:Sf1'
| ID |
104871 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sf1
|
| Ensembl Gene |
ENSMUSG00000024949 |
| Gene Name |
splicing factor 1 |
| Synonyms |
WBP4, CW17R, Zfp162, MZFM |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01713
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6413952-6428060 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 6424319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113485]
[ENSMUST00000113487]
[ENSMUST00000113488]
[ENSMUST00000113489]
[ENSMUST00000124667]
[ENSMUST00000131252]
[ENSMUST00000155973]
[ENSMUST00000144409]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113485
|
| SMART Domains |
Protein: ENSMUSP00000109113
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2M0G|A
|
1 |
86 |
3e-33 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113487
|
| SMART Domains |
Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
134 |
227 |
4.38e-13 |
SMART |
|
ZnF_C2HC
|
278 |
294 |
4.45e-3 |
SMART |
|
low complexity region
|
335 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113488
|
| SMART Domains |
Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
134 |
227 |
4.38e-13 |
SMART |
|
ZnF_C2HC
|
278 |
294 |
4.45e-3 |
SMART |
|
low complexity region
|
335 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113489
|
| SMART Domains |
Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
134 |
227 |
4.38e-13 |
SMART |
|
ZnF_C2HC
|
278 |
294 |
4.45e-3 |
SMART |
|
low complexity region
|
335 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124667
|
| SMART Domains |
Protein: ENSMUSP00000114788
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125516
|
| SMART Domains |
Protein: ENSMUSP00000117172
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131252
|
| SMART Domains |
Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SF1-HH
|
18 |
130 |
1.5e-47 |
PFAM |
|
KH
|
134 |
227 |
4.38e-13 |
SMART |
|
ZnF_C2HC
|
278 |
294 |
4.45e-3 |
SMART |
|
low complexity region
|
335 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162237
|
| SMART Domains |
Protein: ENSMUSP00000124590
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154260
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155973
|
| SMART Domains |
Protein: ENSMUSP00000114438
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4FXW|D
|
1 |
106 |
9e-71 |
PDB |
|
KH
|
108 |
201 |
4.38e-13 |
SMART |
|
ZnF_C2HC
|
252 |
267 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144409
|
| SMART Domains |
Protein: ENSMUSP00000123175
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2M09|A
|
1 |
27 |
4e-12 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a gene trapped allele exhibit embryonic lethalilty prior to E8.5. Mice heterozygous for a gene trapped allele exhibit increased incidence of chemically induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
A |
G |
7: 130,740,772 (GRCm39) |
I148T |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,449 (GRCm39) |
C89R |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,897,694 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,518,589 (GRCm39) |
V83A |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,921,025 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,946,512 (GRCm39) |
I418V |
possibly damaging |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,283 (GRCm39) |
P427L |
probably benign |
Het |
| Dnal4 |
A |
G |
15: 79,646,606 (GRCm39) |
Y92H |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Epha3 |
G |
A |
16: 63,372,925 (GRCm39) |
T926I |
probably benign |
Het |
| Fgg |
T |
C |
3: 82,915,723 (GRCm39) |
S55P |
probably benign |
Het |
| Gosr1 |
A |
T |
11: 76,645,582 (GRCm39) |
M66K |
probably benign |
Het |
| Igkv12-89 |
G |
T |
6: 68,812,296 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,756 (GRCm39) |
E451G |
probably damaging |
Het |
| Phkg1 |
T |
C |
5: 129,895,714 (GRCm39) |
E179G |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,100,579 (GRCm39) |
D482V |
possibly damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,652 (GRCm39) |
V109A |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,429,493 (GRCm39) |
T442A |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,013,062 (GRCm39) |
S1125P |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,490,087 (GRCm39) |
I150S |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,032,293 (GRCm39) |
S611P |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,014,330 (GRCm39) |
C374F |
probably damaging |
Het |
| Xntrpc |
T |
C |
7: 101,733,059 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01480:Sf1
|
APN |
19 |
6,422,052 (GRCm39) |
unclassified |
probably benign |
|
|
G1Funyon:Sf1
|
UTSW |
19 |
6,418,396 (GRCm39) |
nonsense |
probably null |
|
|
R0004:Sf1
|
UTSW |
19 |
6,424,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1638:Sf1
|
UTSW |
19 |
6,422,090 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2999:Sf1
|
UTSW |
19 |
6,424,906 (GRCm39) |
unclassified |
probably benign |
|
|
R4088:Sf1
|
UTSW |
19 |
6,418,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4254:Sf1
|
UTSW |
19 |
6,421,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Sf1
|
UTSW |
19 |
6,424,845 (GRCm39) |
small deletion |
probably benign |
|
|
R4575:Sf1
|
UTSW |
19 |
6,425,943 (GRCm39) |
unclassified |
probably benign |
|
|
R4736:Sf1
|
UTSW |
19 |
6,415,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4794:Sf1
|
UTSW |
19 |
6,425,694 (GRCm39) |
unclassified |
probably benign |
|
|
R5050:Sf1
|
UTSW |
19 |
6,422,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Sf1
|
UTSW |
19 |
6,424,543 (GRCm39) |
splice site |
probably null |
|
|
R6834:Sf1
|
UTSW |
19 |
6,424,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Sf1
|
UTSW |
19 |
6,426,383 (GRCm39) |
missense |
unknown |
|
|
R7574:Sf1
|
UTSW |
19 |
6,422,234 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8100:Sf1
|
UTSW |
19 |
6,422,368 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8301:Sf1
|
UTSW |
19 |
6,418,396 (GRCm39) |
nonsense |
probably null |
|
|
R8996:Sf1
|
UTSW |
19 |
6,426,441 (GRCm39) |
missense |
|
|
|
R9030:Sf1
|
UTSW |
19 |
6,426,336 (GRCm39) |
missense |
|
|
|
R9250:Sf1
|
UTSW |
19 |
6,424,764 (GRCm39) |
missense |
unknown |
|
|
R9351:Sf1
|
UTSW |
19 |
6,415,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation