Incidental Mutation 'R2999:Sf1'
| ID |
477286 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2999 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6413952-6428060 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 6424906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113485]
[ENSMUST00000113487]
[ENSMUST00000113488]
[ENSMUST00000113489]
[ENSMUST00000124667]
[ENSMUST00000131252]
[ENSMUST00000144409]
[ENSMUST00000155973]
|
| 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 |
silent
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 |
silent
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 |
unknown
Transcript: ENSMUST00000113489
AA Change: H522Y
|
| SMART Domains |
Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949
AA Change: H522Y
| 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 |
silent
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 |
unknown
Transcript: ENSMUST00000125516
AA Change: H175Y
|
| SMART Domains |
Protein: ENSMUSP00000117172
Gene: ENSMUSG00000024949
AA Change: H175Y
| 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 |
silent
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 |
unknown
Transcript: ENSMUST00000162237
AA Change: H123Y
|
| SMART Domains |
Protein: ENSMUSP00000124590
Gene: ENSMUSG00000024949
AA Change: H123Y
| 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: ENSMUST00000154260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131677
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1a |
T |
C |
8: 85,294,371 (GRCm39) |
L1178P |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,456,286 (GRCm39) |
M1619V |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,009,530 (GRCm39) |
C1083Y |
probably damaging |
Het |
| Dyrk3 |
A |
T |
1: 131,057,183 (GRCm39) |
I330N |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,439 (GRCm39) |
T380A |
unknown |
Het |
| Inhbe |
T |
C |
10: 127,187,243 (GRCm39) |
T58A |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,865,417 (GRCm39) |
A2914T |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,469,943 (GRCm39) |
N258S |
possibly damaging |
Het |
| Tmem260 |
T |
A |
14: 48,722,446 (GRCm39) |
L327Q |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,957,754 (GRCm39) |
M742V |
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 |
|
|
IGL01713:Sf1
|
APN |
19 |
6,424,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation