Incidental Mutation 'IGL02330:Sf3b4'
| ID |
288647 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sf3b4
|
| Ensembl Gene |
ENSMUSG00000068856 |
| Gene Name |
splicing factor 3b, subunit 4 |
| Synonyms |
49kDa, Sap49, SF3b49 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96079822-96084880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96080376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 42
(T42S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054356]
[ENSMUST00000076372]
[ENSMUST00000129925]
|
| AlphaFold |
Q8QZY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054356
|
| SMART Domains |
Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
191 |
323 |
1.7e-12 |
PFAM |
|
Pfam:Myotub-related
|
312 |
488 |
1.3e-44 |
PFAM |
|
Pfam:3-PAP
|
550 |
683 |
2.3e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076372
AA Change: T42S
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856
AA Change: T42S
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
14 |
87 |
1.46e-25 |
SMART |
|
RRM
|
101 |
175 |
5.07e-25 |
SMART |
|
low complexity region
|
214 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129925
|
| SMART Domains |
Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
162 |
264 |
4.2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes one of the subunits of splicing factor 3B. A similar gene in human encodes a protein that cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes, and also belongs with the minor U12-dependent spliceosome. [provided by RefSeq, May 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
| Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
| Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
| Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
| Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
| Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
|
| Other mutations in Sf3b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0385:Sf3b4
|
UTSW |
3 |
96,080,298 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0494:Sf3b4
|
UTSW |
3 |
96,081,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1403:Sf3b4
|
UTSW |
3 |
96,080,953 (GRCm39) |
splice site |
probably null |
|
|
R1403:Sf3b4
|
UTSW |
3 |
96,080,953 (GRCm39) |
splice site |
probably null |
|
|
R3705:Sf3b4
|
UTSW |
3 |
96,083,944 (GRCm39) |
unclassified |
probably benign |
|
|
R5305:Sf3b4
|
UTSW |
3 |
96,080,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Sf3b4
|
UTSW |
3 |
96,084,044 (GRCm39) |
unclassified |
probably benign |
|
|
R9035:Sf3b4
|
UTSW |
3 |
96,080,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Sf3b4
|
UTSW |
3 |
96,080,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Sf3b4
|
UTSW |
3 |
96,084,115 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation