Incidental Mutation 'R4088:Sf1'
| ID |
317492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf1
|
| Ensembl Gene |
ENSMUSG00000024949 |
| Gene Name |
splicing factor 1 |
| Synonyms |
WBP4, CW17R, Zfp162, MZFM |
| MMRRC Submission |
040981-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6413952-6428060 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 6418470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113485]
[ENSMUST00000113487]
[ENSMUST00000113488]
[ENSMUST00000113489]
[ENSMUST00000155973]
[ENSMUST00000131252]
[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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000113496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131083
|
| Predicted Effect |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000131677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154260
|
| 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 |
0.9511 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (55/57) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
T |
C |
1: 181,055,274 (GRCm39) |
|
noncoding transcript |
Het |
| Alox12b |
G |
T |
11: 69,049,211 (GRCm39) |
V87L |
probably benign |
Het |
| Arsk |
T |
G |
13: 76,246,533 (GRCm39) |
N32T |
probably benign |
Het |
| Baz1b |
T |
A |
5: 135,245,794 (GRCm39) |
N414K |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,287,929 (GRCm39) |
|
probably null |
Het |
| Cdc73 |
A |
G |
1: 143,484,252 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Cyp2b9 |
T |
C |
7: 25,872,881 (GRCm39) |
L8P |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,496,593 (GRCm39) |
V920E |
probably damaging |
Het |
| Eef2kmt |
A |
T |
16: 5,070,899 (GRCm39) |
I50N |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,206,290 (GRCm39) |
M40V |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gpr26 |
G |
T |
7: 131,568,805 (GRCm39) |
C50F |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,610,636 (GRCm39) |
L211Q |
unknown |
Het |
| Khdrbs2 |
A |
G |
1: 32,372,605 (GRCm39) |
E93G |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,004,904 (GRCm39) |
|
probably null |
Het |
| Kif15 |
T |
A |
9: 122,815,254 (GRCm39) |
L423I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,492,711 (GRCm39) |
V834A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,637,365 (GRCm39) |
Y28* |
probably null |
Het |
| Map4k2 |
A |
T |
19: 6,403,186 (GRCm39) |
H763L |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,202,064 (GRCm39) |
F120S |
probably damaging |
Het |
| Ndufs3 |
C |
T |
2: 90,728,689 (GRCm39) |
|
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,523,329 (GRCm39) |
V887E |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,225,065 (GRCm39) |
E358K |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,985 (GRCm39) |
L828P |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,234 (GRCm39) |
Y299H |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,459,030 (GRCm39) |
L140H |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,125,651 (GRCm39) |
V777A |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,848 (GRCm39) |
E372G |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,627 (GRCm39) |
Y181C |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,695,587 (GRCm39) |
E765G |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,758,049 (GRCm39) |
L1073P |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,757 (GRCm39) |
D101G |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,904,505 (GRCm39) |
R204G |
probably benign |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,748,114 (GRCm39) |
Q4312* |
probably null |
Het |
| Ubtfl1 |
T |
C |
9: 18,321,264 (GRCm39) |
V264A |
probably damaging |
Het |
| Vmn1r58 |
C |
A |
7: 5,413,654 (GRCm39) |
W192L |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,211,711 (GRCm39) |
C969F |
probably damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,777,131 (GRCm39) |
K296R |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp9 |
G |
T |
6: 118,441,730 (GRCm39) |
P311T |
probably damaging |
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 |
|
|
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 |
PCR Primer
(F):5'- AAGTCTCCGAGTTCTTCATGC -3'
(R):5'- CCTAGGGGTGGGCAAATTAC -3'
Sequencing Primer
(F):5'- CCGAGTTCTTCATGCTTGTTATTGAG -3'
(R):5'- TGGGCAAATTACCAGGTTAAAAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation