Incidental Mutation 'R1303:Fubp3'
| ID |
158468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fubp3
|
| Ensembl Gene |
ENSMUSG00000026843 |
| Gene Name |
far upstream element (FUSE) binding protein 3 |
| Synonyms |
A330051M14Rik, Marta2, FBP3 |
| MMRRC Submission |
039369-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R1303 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
31462663-31507538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31490532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 212
(L212H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055244]
[ENSMUST00000113482]
[ENSMUST00000134553]
[ENSMUST00000154050]
[ENSMUST00000194386]
|
| AlphaFold |
Q3TIX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055244
AA Change: L212H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843
AA Change: L212H
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
76 |
146 |
2.21e-18 |
SMART |
|
KH
|
161 |
233 |
1.29e-19 |
SMART |
|
KH
|
252 |
322 |
9.69e-15 |
SMART |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
KH
|
353 |
426 |
3.48e-16 |
SMART |
|
low complexity region
|
490 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113482
AA Change: L212H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843
AA Change: L212H
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
76 |
146 |
2.21e-18 |
SMART |
|
KH
|
161 |
233 |
1.29e-19 |
SMART |
|
KH
|
252 |
322 |
9.69e-15 |
SMART |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
KH
|
353 |
426 |
3.48e-16 |
SMART |
|
low complexity region
|
490 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129903
|
| SMART Domains |
Protein: ENSMUSP00000117970
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KH
|
2 |
35 |
5e-16 |
BLAST |
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
KH
|
66 |
139 |
3.48e-16 |
SMART |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134553
|
| SMART Domains |
Protein: ENSMUSP00000141283
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
10 |
80 |
5.9e-17 |
SMART |
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
KH
|
111 |
184 |
2.2e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194386
|
| SMART Domains |
Protein: ENSMUSP00000142262
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
64 |
123 |
1.3e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfy1 |
A |
G |
11: 72,640,897 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
G |
T |
1: 54,079,552 (GRCm39) |
Q34K |
probably benign |
Het |
| Ifnlr1 |
T |
C |
4: 135,431,528 (GRCm39) |
I239T |
possibly damaging |
Het |
| Kcnh1 |
T |
C |
1: 191,959,010 (GRCm39) |
L188P |
probably damaging |
Het |
| Nbl1 |
A |
G |
4: 138,812,778 (GRCm39) |
S52P |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,733,948 (GRCm39) |
E113G |
probably damaging |
Het |
| Psd4 |
T |
C |
2: 24,285,030 (GRCm39) |
V298A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,120,390 (GRCm39) |
T237A |
possibly damaging |
Het |
| Trim46 |
T |
A |
3: 89,149,515 (GRCm39) |
T290S |
probably benign |
Het |
| Trpc2 |
T |
C |
7: 101,737,368 (GRCm39) |
S387P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
|
| Other mutations in Fubp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Fubp3
|
APN |
2 |
31,494,733 (GRCm39) |
splice site |
probably null |
|
|
IGL01583:Fubp3
|
APN |
2 |
31,501,755 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02532:Fubp3
|
APN |
2 |
31,490,571 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02709:Fubp3
|
APN |
2 |
31,485,343 (GRCm39) |
splice site |
probably benign |
|
|
R0140:Fubp3
|
UTSW |
2 |
31,498,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Fubp3
|
UTSW |
2 |
31,498,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1439:Fubp3
|
UTSW |
2 |
31,488,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Fubp3
|
UTSW |
2 |
31,490,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Fubp3
|
UTSW |
2 |
31,501,747 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1973:Fubp3
|
UTSW |
2 |
31,493,298 (GRCm39) |
missense |
probably benign |
|
|
R2141:Fubp3
|
UTSW |
2 |
31,490,569 (GRCm39) |
unclassified |
probably benign |
|
|
R4708:Fubp3
|
UTSW |
2 |
31,498,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4780:Fubp3
|
UTSW |
2 |
31,473,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4836:Fubp3
|
UTSW |
2 |
31,498,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5468:Fubp3
|
UTSW |
2 |
31,493,247 (GRCm39) |
missense |
probably benign |
|
|
R5851:Fubp3
|
UTSW |
2 |
31,488,622 (GRCm39) |
missense |
probably benign |
|
|
R6778:Fubp3
|
UTSW |
2 |
31,488,685 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7074:Fubp3
|
UTSW |
2 |
31,485,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Fubp3
|
UTSW |
2 |
31,488,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:Fubp3
|
UTSW |
2 |
31,494,624 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8381:Fubp3
|
UTSW |
2 |
31,482,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8919:Fubp3
|
UTSW |
2 |
31,482,476 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9227:Fubp3
|
UTSW |
2 |
31,502,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9273:Fubp3
|
UTSW |
2 |
31,503,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0022:Fubp3
|
UTSW |
2 |
31,473,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCATTGCCTCACACGATCAGAAC -3'
(R):5'- GATGCTGGACACAGCTAGACACAC -3'
Sequencing Primer
(F):5'- TAGTGCTCAGTAGGAACTATGCC -3'
(R):5'- gtcacagcacccctcttc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation