Incidental Mutation 'R6778:Fubp3'
| ID |
531359 |
| 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 |
044894-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R6778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
31462663-31507538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31488685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 180
(K180N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055244]
[ENSMUST00000113482]
[ENSMUST00000134553]
[ENSMUST00000137889]
[ENSMUST00000154050]
[ENSMUST00000194386]
|
| AlphaFold |
Q3TIX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055244
AA Change: K180N
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843
AA Change: K180N
| 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 |
possibly damaging
Transcript: ENSMUST00000113482
AA Change: K180N
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843
AA Change: K180N
| 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: 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: ENSMUST00000137889
|
| SMART Domains |
Protein: ENSMUSP00000120241
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LIJ|C
|
63 |
97 |
3e-9 |
PDB |
|
Blast:KH
|
75 |
97 |
8e-8 |
BLAST |
|
SCOP:d1vig__
|
76 |
97 |
1e-3 |
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
| Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
| Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
| Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
| Igsf21 |
G |
T |
4: 139,761,959 (GRCm39) |
R240S |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
| Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
| Npas2 |
T |
A |
1: 39,364,381 (GRCm39) |
M241K |
possibly damaging |
Het |
| Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,408 (GRCm39) |
F56S |
probably damaging |
Het |
| Rin1 |
T |
C |
19: 5,104,914 (GRCm39) |
L647P |
probably damaging |
Het |
| Sgk3 |
T |
A |
1: 9,956,369 (GRCm39) |
|
probably null |
Het |
| Sgpp1 |
A |
G |
12: 75,763,068 (GRCm39) |
I371T |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,522 (GRCm39) |
K367R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
| Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
| Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
probably benign |
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 |
|
R1303:Fubp3
|
UTSW |
2 |
31,490,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- ACCATTTAATGCTGGGTCTCTTG -3'
(R):5'- TCAGCACATGCCTGTCAAAAG -3'
Sequencing Primer
(F):5'- GTGATTTTTCTCCCTCCCAAAGAC -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation