Incidental Mutation 'R8526:Fbxl12'
| ID |
658812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl12
|
| Ensembl Gene |
ENSMUSG00000066892 |
| Gene Name |
F-box and leucine-rich repeat protein 12 |
| Synonyms |
3110048D16Rik |
| MMRRC Submission |
067951-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8526 (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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,417,935 (GRCm39) |
C706* |
probably null |
Het |
| 4930522L14Rik |
T |
C |
5: 109,885,655 (GRCm39) |
I68V |
possibly damaging |
Het |
| 4931422A03Rik |
G |
A |
2: 103,856,499 (GRCm39) |
R21C |
unknown |
Het |
| Actr5 |
T |
G |
2: 158,474,224 (GRCm39) |
F342L |
probably damaging |
Het |
| Adamts13 |
T |
C |
2: 26,868,012 (GRCm39) |
V124A |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,473,492 (GRCm39) |
E606G |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,415,447 (GRCm39) |
A265V |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,954,178 (GRCm39) |
E781G |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,950,858 (GRCm39) |
W33* |
probably null |
Het |
| Dlc1 |
C |
T |
8: 37,404,968 (GRCm39) |
V274I |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Ect2l |
C |
T |
10: 18,020,375 (GRCm39) |
E582K |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,683,126 (GRCm39) |
K40* |
probably null |
Het |
| Igkv4-72 |
A |
G |
6: 69,204,140 (GRCm39) |
V17A |
probably benign |
Het |
| Klhl28 |
T |
G |
12: 64,998,400 (GRCm39) |
T365P |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,137,309 (GRCm39) |
Y434F |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,935,391 (GRCm39) |
V3620E |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,506,221 (GRCm39) |
|
probably benign |
Het |
| Mef2a |
T |
C |
7: 66,901,473 (GRCm39) |
M100V |
possibly damaging |
Het |
| Mos |
T |
C |
4: 3,871,709 (GRCm39) |
K36E |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,403,679 (GRCm39) |
Y864H |
probably benign |
Het |
| Or1o2 |
A |
G |
17: 37,542,470 (GRCm39) |
S264P |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,423,719 (GRCm39) |
|
probably null |
Het |
| Parp14 |
A |
T |
16: 35,661,307 (GRCm39) |
I1547N |
possibly damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,710,023 (GRCm39) |
Y431N |
probably damaging |
Het |
| Phyhd1 |
T |
C |
2: 30,156,955 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
T |
C |
5: 104,637,102 (GRCm39) |
F572L |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,856,901 (GRCm39) |
I453N |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rrbp1 |
A |
G |
2: 143,816,403 (GRCm39) |
V742A |
probably benign |
Het |
| Serpinb3a |
A |
T |
1: 106,976,504 (GRCm39) |
|
probably null |
Het |
| Sgsm2 |
T |
G |
11: 74,759,847 (GRCm39) |
E97A |
probably benign |
Het |
| Smad4 |
A |
T |
18: 73,790,330 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,745,253 (GRCm39) |
Y533H |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,673,703 (GRCm39) |
T1199A |
probably benign |
Het |
| Veph1 |
T |
A |
3: 66,066,737 (GRCm39) |
N417I |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,362 (GRCm39) |
S138G |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,145,572 (GRCm39) |
V512I |
possibly damaging |
Het |
| Zfp740 |
A |
G |
15: 102,116,726 (GRCm39) |
D47G |
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,189,586 (GRCm39) |
K441E |
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 |
|
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 |
|
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'- ATCTTGCGCACATCTCGAAGG -3'
(R):5'- AATGCCCCAATCTGAAGCGC -3'
Sequencing Primer
(F):5'- ACATCTCGAAGGTGGCGG -3'
(R):5'- AATCTGAAGCGCCTGTGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation