Incidental Mutation 'R8797:Fbxl12'
| ID |
671314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl12
|
| Ensembl Gene |
ENSMUSG00000066892 |
| Gene Name |
F-box and leucine-rich repeat protein 12 |
| Synonyms |
3110048D16Rik |
| MMRRC Submission |
068638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20549045-20556064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20550160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 165
(R165L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086458]
[ENSMUST00000086459]
[ENSMUST00000129414]
[ENSMUST00000131128]
[ENSMUST00000131343]
[ENSMUST00000140702]
[ENSMUST00000148631]
[ENSMUST00000151861]
[ENSMUST00000155301]
|
| AlphaFold |
Q9EPX5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086458
AA Change: R112L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: R112L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086459
AA Change: R165L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: R165L
| 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 |
possibly damaging
Transcript: ENSMUST00000131128
AA Change: R112L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: R112L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131343
AA Change: R112L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140702
AA Change: R112L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: R112L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148631
AA Change: R165L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: R165L
| 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: R188L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: R188L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| 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 |
0.2169 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
C |
A |
7: 119,137,374 (GRCm39) |
P397T |
probably damaging |
Het |
| Adamts14 |
C |
T |
10: 61,106,781 (GRCm39) |
R113K |
probably benign |
Het |
| Baiap2 |
G |
A |
11: 119,897,201 (GRCm39) |
V519I |
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,953,069 (GRCm39) |
A233T |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,389,931 (GRCm39) |
Y862H |
probably damaging |
Het |
| Crygc |
C |
T |
1: 65,111,030 (GRCm39) |
A86T |
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,669,662 (GRCm39) |
N232T |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,465,412 (GRCm39) |
H1193N |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,992,201 (GRCm39) |
E1170A |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,162,806 (GRCm39) |
Y384C |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,053,278 (GRCm39) |
V4091I |
probably benign |
Het |
| G6pc2 |
A |
G |
2: 69,050,441 (GRCm39) |
Y22C |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,828 (GRCm39) |
Q181L |
possibly damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,552 (GRCm39) |
S113L |
probably damaging |
Het |
| Hhatl |
A |
T |
9: 121,619,965 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,841,738 (GRCm39) |
S75R |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,573 (GRCm39) |
I375F |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,618,529 (GRCm39) |
I647V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,060,616 (GRCm39) |
C703S |
probably benign |
Het |
| L3mbtl2 |
C |
T |
15: 81,569,615 (GRCm39) |
T619I |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,684 (GRCm39) |
T722A |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,567,686 (GRCm39) |
Q827* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,986 (GRCm39) |
S386G |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,071,876 (GRCm39) |
D543V |
probably damaging |
Het |
| Ms4a13 |
C |
T |
19: 11,161,200 (GRCm39) |
R113H |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,325 (GRCm39) |
Y826C |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,366,711 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
A |
C |
14: 38,093,243 (GRCm39) |
L542R |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,706,455 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2y8 |
T |
A |
11: 52,036,340 (GRCm39) |
T6S |
probably benign |
Het |
| Or6c65 |
T |
A |
10: 129,603,674 (GRCm39) |
I103K |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,978 (GRCm39) |
N1212S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,443,472 (GRCm39) |
T1229I |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,374,946 (GRCm39) |
H1483L |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,532,879 (GRCm39) |
L840* |
probably null |
Het |
| Psd4 |
A |
T |
2: 24,287,440 (GRCm39) |
R457S |
probably benign |
Het |
| Relch |
T |
C |
1: 105,678,121 (GRCm39) |
S1149P |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,186,915 (GRCm39) |
S194G |
|
Het |
| Rps3 |
A |
G |
7: 99,132,797 (GRCm39) |
|
probably null |
Het |
| Saxo4 |
T |
C |
19: 10,455,602 (GRCm39) |
I216V |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,036 (GRCm39) |
N255K |
probably benign |
Het |
| Sla2 |
A |
G |
2: 156,717,799 (GRCm39) |
Y158H |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,823 (GRCm39) |
Q150* |
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,012,455 (GRCm39) |
Y193N |
possibly damaging |
Het |
| Supt16 |
G |
T |
14: 52,409,960 (GRCm39) |
T749K |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,239,500 (GRCm39) |
E104G |
probably damaging |
Het |
| Vasp |
T |
C |
7: 18,994,563 (GRCm39) |
N251S |
unknown |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,965 (GRCm39) |
M161T |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,906 (GRCm39) |
L20* |
probably null |
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 |
|
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 |
|
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'- AATCTTGCGCACATCTCGAAG -3'
(R):5'- AATGCCCCAATCTGAAGCG -3'
Sequencing Primer
(F):5'- ACATCTCGAAGGTGGCGG -3'
(R):5'- AATCTGAAGCGCCTGTGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation