Incidental Mutation 'R3722:Fbxl12'
| ID |
258972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl12
|
| Ensembl Gene |
ENSMUSG00000066892 |
| Gene Name |
F-box and leucine-rich repeat protein 12 |
| Synonyms |
3110048D16Rik |
| MMRRC Submission |
040713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3722 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20549045-20556064 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 20550268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086458]
[ENSMUST00000086459]
[ENSMUST00000129414]
[ENSMUST00000131128]
[ENSMUST00000131343]
[ENSMUST00000140702]
[ENSMUST00000148631]
[ENSMUST00000151861]
[ENSMUST00000155301]
|
| AlphaFold |
Q9EPX5 |
| PDB Structure |
Solution Structure of the murine ubiquitin-like 5 protein from RIKEN cDNA 0610031K06 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086458
AA Change: L76Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: L76Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086459
AA Change: L129Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: L129Q
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
46 |
1.14e-8 |
SMART |
|
SCOP:d1fqva2
|
103 |
291 |
5e-5 |
SMART |
|
| Predicted Effect |
probably null
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 damaging
Transcript: ENSMUST00000131128
AA Change: L76Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: L76Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131343
AA Change: L76Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140702
AA Change: L76Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: L76Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148631
AA Change: L129Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: L129Q
| 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: ENSMUST00000151861
AA Change: L152Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: L152Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155301
|
| SMART Domains |
Protein: ENSMUSP00000118369
Gene: ENSMUSG00000066892
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
46 |
1.14e-8 |
SMART |
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9209 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (61/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,216,254 (GRCm39) |
S1485T |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,120,351 (GRCm39) |
Y3589C |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,385,153 (GRCm39) |
Y482H |
probably damaging |
Het |
| Appl1 |
G |
A |
14: 26,649,801 (GRCm39) |
T575M |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,855,102 (GRCm39) |
E1420G |
probably damaging |
Het |
| Asic3 |
A |
T |
5: 24,621,997 (GRCm39) |
Y419F |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,672,624 (GRCm39) |
Y279C |
probably damaging |
Het |
| Braf |
G |
A |
6: 39,600,610 (GRCm39) |
P616L |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,109 (GRCm39) |
M88T |
possibly damaging |
Het |
| C1rb |
T |
A |
6: 124,557,620 (GRCm39) |
Y586N |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 135,996,780 (GRCm39) |
F127S |
possibly damaging |
Het |
| Cd47 |
A |
G |
16: 49,688,205 (GRCm39) |
I42V |
probably benign |
Het |
| Cox8b |
T |
A |
7: 140,478,918 (GRCm39) |
K66* |
probably null |
Het |
| Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,287,500 (GRCm39) |
L204P |
probably damaging |
Het |
| Fam170a |
C |
T |
18: 50,415,271 (GRCm39) |
P306S |
probably benign |
Het |
| Fndc3a |
T |
A |
14: 72,777,648 (GRCm39) |
I1186F |
probably benign |
Het |
| Gm12886 |
T |
A |
4: 121,274,667 (GRCm39) |
D71V |
probably damaging |
Het |
| H3c8 |
T |
C |
13: 23,719,722 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,659,021 (GRCm39) |
|
probably benign |
Het |
| Ighv8-11 |
A |
G |
12: 115,530,771 (GRCm39) |
I119T |
possibly damaging |
Het |
| Ism1 |
A |
T |
2: 139,573,931 (GRCm39) |
R94* |
probably null |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kcnk15 |
T |
C |
2: 163,700,214 (GRCm39) |
L132P |
probably damaging |
Het |
| Lrmda |
T |
A |
14: 22,077,399 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Mrtfb |
C |
T |
16: 13,203,557 (GRCm39) |
A201V |
probably damaging |
Het |
| Ncstn |
G |
A |
1: 171,895,462 (GRCm39) |
T562M |
possibly damaging |
Het |
| Nudt4 |
A |
T |
10: 95,385,367 (GRCm39) |
|
probably null |
Het |
| Omp |
T |
C |
7: 97,794,420 (GRCm39) |
N69S |
probably benign |
Het |
| Or10d3 |
A |
C |
9: 39,461,418 (GRCm39) |
C250G |
probably damaging |
Het |
| Or4a75 |
A |
T |
2: 89,448,503 (GRCm39) |
I11N |
possibly damaging |
Het |
| Pak1 |
C |
T |
7: 97,503,704 (GRCm39) |
P13L |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 110,087,866 (GRCm39) |
C744* |
probably null |
Het |
| Pelp1 |
T |
C |
11: 70,289,026 (GRCm39) |
Y240C |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,259,619 (GRCm39) |
D353G |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,724,485 (GRCm39) |
F1152S |
probably damaging |
Het |
| Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
| Rpn1 |
G |
A |
6: 88,067,282 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
T |
A |
13: 38,131,074 (GRCm39) |
D1409E |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,200,323 (GRCm39) |
H668Y |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,967,685 (GRCm39) |
I138N |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,321 (GRCm39) |
K187E |
possibly damaging |
Het |
| Slc44a2 |
A |
T |
9: 21,254,273 (GRCm39) |
I212F |
possibly damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
| Snapc4 |
A |
G |
2: 26,255,440 (GRCm39) |
L1028P |
probably benign |
Het |
| Snrnp40 |
C |
T |
4: 130,262,068 (GRCm39) |
T152I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,851,472 (GRCm39) |
E228G |
probably benign |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,437,566 (GRCm39) |
W203* |
probably null |
Het |
| Tmcc1 |
T |
C |
6: 116,110,783 (GRCm39) |
E170G |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,024,747 (GRCm39) |
N46D |
probably benign |
Het |
| Txk |
T |
A |
5: 72,865,078 (GRCm39) |
K266* |
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,278,930 (GRCm39) |
E859G |
probably damaging |
Het |
| Uros |
A |
T |
7: 133,304,120 (GRCm39) |
M1K |
probably null |
Het |
| Vps13b |
T |
A |
15: 35,671,528 (GRCm39) |
I1677N |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,994,863 (GRCm39) |
|
probably null |
Het |
| Zfp760 |
A |
G |
17: 21,941,143 (GRCm39) |
Y106C |
probably damaging |
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 |
|
R2327:Fbxl12
|
UTSW |
9 |
20,553,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Fbxl12
|
UTSW |
9 |
20,553,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTTGCAGGTAGCTGAGCTCC -3'
(R):5'- AAGTCATGTGGCACCTCCTG -3'
Sequencing Primer
(F):5'- ATCTAGCCCGGTCTCAGTGAC -3'
(R):5'- TCCTGCGCCGGTACATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation