Incidental Mutation 'R4254:Sf1'
| ID |
321755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf1
|
| Ensembl Gene |
ENSMUSG00000024949 |
| Gene Name |
splicing factor 1 |
| Synonyms |
WBP4, CW17R, Zfp162, MZFM |
| MMRRC Submission |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6413952-6428060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6421677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 140
(V140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121309
(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 damaging
Transcript: ENSMUST00000113487
AA Change: V140A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949
AA Change: V140A
| 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 damaging
Transcript: ENSMUST00000113488
AA Change: V140A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949
AA Change: V140A
| 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 damaging
Transcript: ENSMUST00000113489
AA Change: V140A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949
AA Change: V140A
| 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 damaging
Transcript: ENSMUST00000131252
AA Change: V140A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949
AA Change: V140A
| 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 damaging
Transcript: ENSMUST00000155973
AA Change: V114A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114438
Gene: ENSMUSG00000024949
AA Change: V114A
| 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 |
noncoding transcript
Transcript: ENSMUST00000144239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154260
|
| 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 |
probably benign
Transcript: ENSMUST00000144409
|
| SMART Domains |
Protein: ENSMUSP00000123175
Gene: ENSMUSG00000024949
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2M09|A
|
1 |
27 |
4e-12 |
PDB |
|
| Meta Mutation Damage Score |
0.7291 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
| Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- CTGCTGGGACAATTCTGGTG -3'
(R):5'- AAGGTCAGCTCTAACATCTCAGG -3'
Sequencing Primer
(F):5'- GGACAATTCTGGTGTACCTACTCAC -3'
(R):5'- TTCACAGAAAACAGTGTGTGTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation