Incidental Mutation 'R1326:Fsbp'
| ID |
157211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fsbp
|
| Ensembl Gene |
ENSMUSG00000094595 |
| Gene Name |
fibrinogen silencer binding protein |
| Synonyms |
|
| MMRRC Submission |
039392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R1326 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
11579665-11587591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11579891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 53
(Y53C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070755]
[ENSMUST00000095145]
[ENSMUST00000108306]
[ENSMUST00000180239]
|
| AlphaFold |
Q8BKE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070755
|
| SMART Domains |
Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
DEXDc
|
270 |
470 |
4.36e-36 |
SMART |
|
HELICc
|
652 |
736 |
6.14e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179731
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180239
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137082
Gene: ENSMUSG00000094595
AA Change: Y53C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myb_DNA-bind_5
|
6 |
85 |
2.2e-24 |
PFAM |
|
coiled coil region
|
256 |
293 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
| Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,357 (GRCm39) |
I130T |
possibly damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
| Errfi1 |
T |
C |
4: 150,949,621 (GRCm39) |
V6A |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,582,592 (GRCm39) |
|
probably null |
Het |
| Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
| Ifna7 |
A |
T |
4: 88,734,931 (GRCm39) |
E156V |
possibly damaging |
Het |
| Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,543 (GRCm39) |
F289S |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,857,288 (GRCm39) |
T491A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,379 (GRCm39) |
L60Q |
probably damaging |
Het |
| Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
| Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
probably damaging |
Het |
|
| Other mutations in Fsbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02604:Fsbp
|
APN |
4 |
11,584,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1233:Fsbp
|
UTSW |
4 |
11,580,053 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1642:Fsbp
|
UTSW |
4 |
11,583,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1693:Fsbp
|
UTSW |
4 |
11,583,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1754:Fsbp
|
UTSW |
4 |
11,583,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Fsbp
|
UTSW |
4 |
11,584,006 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3767:Fsbp
|
UTSW |
4 |
11,583,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4184:Fsbp
|
UTSW |
4 |
11,584,058 (GRCm39) |
missense |
probably benign |
|
|
R4672:Fsbp
|
UTSW |
4 |
11,579,841 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4673:Fsbp
|
UTSW |
4 |
11,579,841 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4780:Fsbp
|
UTSW |
4 |
11,583,709 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7748:Fsbp
|
UTSW |
4 |
11,579,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Fsbp
|
UTSW |
4 |
11,584,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCATGGTGGTTTCAGAAACG -3'
(R):5'- CATGTCTAGCACAGCTAAGCCAGAG -3'
Sequencing Primer
(F):5'- TGGTTTCAGAAACGGCCTAC -3'
(R):5'- GCTGGCAATCTGGGGAATC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation