Incidental Mutation 'R2327:Fbxl12'
| ID |
245709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl12
|
| Ensembl Gene |
ENSMUSG00000066892 |
| Gene Name |
F-box and leucine-rich repeat protein 12 |
| Synonyms |
3110048D16Rik |
| MMRRC Submission |
040318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2327 (G1)
|
| Quality Score |
99 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20549045-20556064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20553530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 19
(L19P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086458]
[ENSMUST00000086459]
[ENSMUST00000129414]
[ENSMUST00000131128]
[ENSMUST00000131343]
[ENSMUST00000140702]
[ENSMUST00000148631]
[ENSMUST00000155301]
[ENSMUST00000160874]
[ENSMUST00000151861]
[ENSMUST00000160124]
[ENSMUST00000160682]
[ENSMUST00000161882]
[ENSMUST00000161887]
[ENSMUST00000162303]
[ENSMUST00000161486]
|
| AlphaFold |
Q9EPX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086458
|
| SMART Domains |
Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086459
AA Change: L19P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: L19P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
46 |
1.14e-8 |
SMART |
|
SCOP:d1fqva2
|
103 |
291 |
5e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129414
|
| SMART Domains |
Protein: ENSMUSP00000123971
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiquitin_2
|
2 |
71 |
6.3e-7 |
PFAM |
|
Pfam:ubiquitin
|
8 |
73 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131128
|
| SMART Domains |
Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140702
|
| SMART Domains |
Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148631
AA Change: L19P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: L19P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
46 |
1.14e-8 |
SMART |
|
SCOP:d1fqva2
|
103 |
291 |
5e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155301
AA Change: L19P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118369
Gene: ENSMUSG00000066892
AA Change: L19P
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
46 |
1.14e-8 |
SMART |
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160874
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151861
|
| SMART Domains |
Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160124
|
| SMART Domains |
Protein: ENSMUSP00000125364
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiquitin_2
|
2 |
71 |
6.3e-7 |
PFAM |
|
Pfam:ubiquitin
|
8 |
73 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160682
|
| SMART Domains |
Protein: ENSMUSP00000124672
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiquitin_2
|
2 |
71 |
6.3e-7 |
PFAM |
|
Pfam:ubiquitin
|
8 |
73 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161834
|
| SMART Domains |
Protein: ENSMUSP00000133396
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
27 |
58 |
7e-8 |
BLAST |
|
PDB:1P0R|A
|
27 |
58 |
3e-12 |
PDB |
|
SCOP:d1j8ca_
|
29 |
54 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161882
|
| SMART Domains |
Protein: ENSMUSP00000125540
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1UH6|A
|
1 |
113 |
5e-41 |
PDB |
|
Blast:UBQ
|
2 |
113 |
1e-30 |
BLAST |
|
SCOP:d1j8ca_
|
12 |
60 |
3e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161887
|
| SMART Domains |
Protein: ENSMUSP00000123843
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1UH6|A
|
1 |
56 |
7e-36 |
PDB |
|
Blast:UBQ
|
2 |
56 |
2e-27 |
BLAST |
|
SCOP:d1j8ca_
|
12 |
56 |
1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162303
|
| SMART Domains |
Protein: ENSMUSP00000124812
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiquitin_2
|
2 |
71 |
6.3e-7 |
PFAM |
|
Pfam:ubiquitin
|
8 |
73 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161486
|
| SMART Domains |
Protein: ENSMUSP00000124506
Gene: ENSMUSG00000084786
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1UH6|A
|
1 |
50 |
4e-27 |
PDB |
|
Blast:UBQ
|
2 |
49 |
4e-21 |
BLAST |
|
SCOP:d1j8ca_
|
12 |
46 |
3e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| 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 FBXL12, 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, growth retardation, small placenta, absent gastric milk in mice that die and abnormal placental. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,569 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
T |
G |
4: 111,383,798 (GRCm39) |
S218A |
probably benign |
Het |
| Apol11b |
T |
C |
15: 77,522,153 (GRCm39) |
E48G |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,419,666 (GRCm39) |
N676K |
probably benign |
Het |
| Capn5 |
T |
A |
7: 97,775,574 (GRCm39) |
S456C |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,600,161 (GRCm39) |
Y590C |
probably damaging |
Het |
| Ccdc188 |
G |
T |
16: 18,037,070 (GRCm39) |
G283W |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,248,351 (GRCm39) |
V45A |
probably damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,771 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
T |
19: 10,564,166 (GRCm39) |
T169S |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,397 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,947,344 (GRCm39) |
T236A |
possibly damaging |
Het |
| Efs |
A |
G |
14: 55,154,961 (GRCm39) |
V426A |
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,113,157 (GRCm39) |
L136S |
probably damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,535,872 (GRCm39) |
K312* |
probably null |
Het |
| Flg2 |
T |
A |
3: 93,110,913 (GRCm39) |
Y980* |
probably null |
Het |
| Fscn2 |
T |
A |
11: 120,257,527 (GRCm39) |
I296N |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,384,835 (GRCm39) |
V242A |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,817,315 (GRCm39) |
H368R |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,657,893 (GRCm39) |
S92N |
probably benign |
Het |
| Gpalpp1 |
A |
T |
14: 76,336,031 (GRCm39) |
S196T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,168,804 (GRCm39) |
M773L |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,405,247 (GRCm39) |
T92A |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,111,218 (GRCm39) |
D303G |
probably damaging |
Het |
| Kpna2rt |
C |
A |
17: 90,217,697 (GRCm39) |
R16S |
probably benign |
Het |
| Krtap5-2 |
T |
G |
7: 141,728,748 (GRCm39) |
S311R |
unknown |
Het |
| Krtdap |
T |
A |
7: 30,489,185 (GRCm39) |
|
probably null |
Het |
| Lce1g |
G |
T |
3: 92,658,140 (GRCm39) |
S56Y |
unknown |
Het |
| Lrrn1 |
G |
A |
6: 107,545,794 (GRCm39) |
V531I |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,861,358 (GRCm39) |
E429G |
probably damaging |
Het |
| Mrgpra2b |
T |
G |
7: 47,113,793 (GRCm39) |
D287A |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,076,258 (GRCm39) |
T150A |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,014,725 (GRCm39) |
N506S |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,963,313 (GRCm39) |
V1085L |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,048 (GRCm39) |
N51S |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,771,304 (GRCm39) |
L196Q |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,074,747 (GRCm39) |
N816I |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,767,700 (GRCm39) |
V218A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,673 (GRCm39) |
E339G |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,611,331 (GRCm39) |
V135I |
probably benign |
Het |
| Or51b6b |
A |
G |
7: 103,309,779 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,165 (GRCm39) |
L285* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,284,828 (GRCm39) |
I619T |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,759,118 (GRCm39) |
D118G |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,314 (GRCm39) |
D168G |
possibly damaging |
Het |
| Preb |
T |
C |
5: 31,115,849 (GRCm39) |
E198G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,386,378 (GRCm39) |
T203A |
possibly damaging |
Het |
| Rbm17 |
A |
G |
2: 11,602,942 (GRCm39) |
V54A |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,067,574 (GRCm39) |
D276E |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,439,471 (GRCm39) |
L77P |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scarf1 |
A |
C |
11: 75,416,854 (GRCm39) |
E765D |
probably damaging |
Het |
| Scart1 |
A |
T |
7: 139,803,890 (GRCm39) |
N363Y |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,990,041 (GRCm39) |
M113I |
probably benign |
Het |
| Senp1 |
C |
T |
15: 97,980,165 (GRCm39) |
C60Y |
probably damaging |
Het |
| Slc22a21 |
T |
A |
11: 53,842,130 (GRCm39) |
K549N |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,947,004 (GRCm39) |
M684T |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,668,666 (GRCm39) |
Y198C |
possibly damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,833 (GRCm39) |
V210E |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,893,475 (GRCm39) |
E1604K |
possibly damaging |
Het |
| Tspan31 |
T |
C |
10: 126,904,365 (GRCm39) |
D143G |
probably benign |
Het |
| Tspan5 |
T |
A |
3: 138,603,903 (GRCm39) |
Y131* |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,795,189 (GRCm39) |
D1070G |
probably damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,016,708 (GRCm39) |
P391S |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,464 (GRCm39) |
I700T |
probably damaging |
Het |
| Vps13c |
A |
C |
9: 67,821,102 (GRCm39) |
N1204T |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
|
| Other mutations in Fbxl12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01554:Fbxl12
|
APN |
9 |
20,550,215 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0329:Fbxl12
|
UTSW |
9 |
20,549,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2919:Fbxl12
|
UTSW |
9 |
20,553,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Fbxl12
|
UTSW |
9 |
20,550,268 (GRCm39) |
splice site |
probably null |
|
|
R5322:Fbxl12
|
UTSW |
9 |
20,550,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Fbxl12
|
UTSW |
9 |
20,549,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Fbxl12
|
UTSW |
9 |
20,550,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7017:Fbxl12
|
UTSW |
9 |
20,529,616 (GRCm39) |
missense |
unknown |
|
|
R7131:Fbxl12
|
UTSW |
9 |
20,555,679 (GRCm39) |
unclassified |
probably benign |
|
|
R7213:Fbxl12
|
UTSW |
9 |
20,550,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Fbxl12
|
UTSW |
9 |
20,529,709 (GRCm39) |
splice site |
probably null |
|
|
R8270:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8272:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8273:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8283:Fbxl12
|
UTSW |
9 |
20,550,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8423:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8508:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8510:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8526:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8527:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8528:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8797:Fbxl12
|
UTSW |
9 |
20,550,160 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9367:Fbxl12
|
UTSW |
9 |
20,550,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9574:Fbxl12
|
UTSW |
9 |
20,550,109 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCGTGTAGAGCGTCAGG -3'
(R):5'- TTTCCTAGAAAAGTAGGGATTCTCG -3'
Sequencing Primer
(F):5'- ACGTGTCGCCATAGCCAC -3'
(R):5'- AAGTAGGGATTCTCGGCGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation