Incidental Mutation 'R1328:Fbxl14'
| ID |
157277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl14
|
| Ensembl Gene |
ENSMUSG00000030019 |
| Gene Name |
F-box and leucine-rich repeat protein 14 |
| Synonyms |
|
| MMRRC Submission |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R1328 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119456629-119459591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119457347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 176
(L176P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032094]
[ENSMUST00000119369]
[ENSMUST00000178696]
|
| AlphaFold |
Q8BID8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032094
AA Change: L176P
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032094
Gene: ENSMUSG00000030019
AA Change: L176P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
48 |
6.86e-3 |
SMART |
|
LRR
|
89 |
114 |
6.04e0 |
SMART |
|
LRR
|
116 |
141 |
5.42e-2 |
SMART |
|
LRR
|
142 |
167 |
6.88e0 |
SMART |
|
LRR
|
168 |
193 |
2.49e-1 |
SMART |
|
LRR
|
201 |
226 |
2.14e0 |
SMART |
|
LRR
|
227 |
252 |
1.08e-1 |
SMART |
|
LRR
|
253 |
277 |
2.71e-2 |
SMART |
|
LRR
|
278 |
303 |
5.72e-1 |
SMART |
|
LRR
|
304 |
328 |
5.74e1 |
SMART |
|
LRR
|
329 |
354 |
2.24e-3 |
SMART |
|
LRR
|
355 |
380 |
2.32e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119369
|
| SMART Domains |
Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
WNT1
|
63 |
372 |
3.47e-215 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178696
|
| SMART Domains |
Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
WNT1
|
50 |
359 |
3.47e-215 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
| Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
probably benign |
Het |
|
| Other mutations in Fbxl14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0382:Fbxl14
|
UTSW |
6 |
119,458,021 (GRCm39) |
makesense |
probably null |
|
|
R0699:Fbxl14
|
UTSW |
6 |
119,457,715 (GRCm39) |
missense |
probably benign |
|
|
R1696:Fbxl14
|
UTSW |
6 |
119,457,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Fbxl14
|
UTSW |
6 |
119,457,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Fbxl14
|
UTSW |
6 |
119,457,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7705:Fbxl14
|
UTSW |
6 |
119,457,742 (GRCm39) |
nonsense |
probably null |
|
|
R9210:Fbxl14
|
UTSW |
6 |
119,457,635 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAAGCAGATCACCGACAGC -3'
(R):5'- CTGATCTCCCACCTTGTCACAGAAC -3'
Sequencing Primer
(F):5'- TCACCGACAGCAGCCTG -3'
(R):5'- CATGTGCGACAGGTGCAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation