Incidental Mutation 'R8270:Fbxl12'
ID |
639451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl12
|
Ensembl Gene |
ENSMUSG00000066892 |
Gene Name |
F-box and leucine-rich repeat protein 12 |
Synonyms |
3110048D16Rik |
MMRRC Submission |
067694-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8270 (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 |
98% (52/53) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
A |
13: 81,651,163 (GRCm39) |
T3044I |
probably damaging |
Het |
Apbb1ip |
C |
T |
2: 22,765,004 (GRCm39) |
P562S |
unknown |
Het |
Arhgap44 |
A |
G |
11: 64,912,860 (GRCm39) |
M477T |
possibly damaging |
Het |
Arhgef12 |
T |
C |
9: 42,882,354 (GRCm39) |
T1497A |
probably benign |
Het |
Atp5pd |
T |
C |
11: 115,307,698 (GRCm39) |
D91G |
probably damaging |
Het |
Atp6v0a4 |
A |
G |
6: 38,051,164 (GRCm39) |
F405L |
probably damaging |
Het |
Bicc1 |
T |
A |
10: 70,767,938 (GRCm39) |
T893S |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,257,835 (GRCm39) |
C1122S |
probably damaging |
Het |
Capn7 |
A |
G |
14: 31,080,636 (GRCm39) |
E369G |
probably damaging |
Het |
Cass4 |
T |
A |
2: 172,269,589 (GRCm39) |
L557Q |
probably damaging |
Het |
Cdh5 |
A |
G |
8: 104,839,672 (GRCm39) |
I48V |
probably benign |
Het |
Crisp3 |
T |
C |
17: 40,546,813 (GRCm39) |
K35R |
probably benign |
Het |
Csde1 |
G |
A |
3: 102,946,071 (GRCm39) |
A22T |
possibly damaging |
Het |
Ctse |
T |
C |
1: 131,595,877 (GRCm39) |
Y190H |
probably damaging |
Het |
Cyp2d34 |
T |
A |
15: 82,504,988 (GRCm39) |
D24V |
possibly damaging |
Het |
D630045J12Rik |
A |
T |
6: 38,167,658 (GRCm39) |
Y981* |
probably null |
Het |
Dclre1a |
G |
A |
19: 56,533,382 (GRCm39) |
T404I |
possibly damaging |
Het |
Dmc1 |
T |
C |
15: 79,485,746 (GRCm39) |
D23G |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,059,687 (GRCm39) |
T4429M |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,997,033 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
T |
11: 121,330,137 (GRCm39) |
M107L |
probably benign |
Het |
Fxyd5 |
A |
G |
7: 30,740,854 (GRCm39) |
L10P |
probably damaging |
Het |
Gm21958 |
G |
A |
3: 54,621,633 (GRCm39) |
|
probably benign |
Het |
Gm4922 |
C |
T |
10: 18,659,760 (GRCm39) |
D321N |
probably benign |
Het |
Gtf2h3 |
A |
G |
5: 124,734,050 (GRCm39) |
*310W |
probably null |
Het |
Hapln2 |
G |
A |
3: 87,930,851 (GRCm39) |
T180I |
possibly damaging |
Het |
Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,379,875 (GRCm39) |
V1166A |
probably damaging |
Het |
Kcnk10 |
T |
C |
12: 98,401,358 (GRCm39) |
N439S |
|
Het |
Klhl3 |
A |
T |
13: 58,260,968 (GRCm39) |
M15K |
|
Het |
Klk1b26 |
A |
T |
7: 43,665,544 (GRCm39) |
T151S |
probably benign |
Het |
Krtap5-1 |
C |
A |
7: 141,850,199 (GRCm39) |
C176F |
unknown |
Het |
Krtap5-3 |
T |
A |
7: 141,755,693 (GRCm39) |
C177S |
unknown |
Het |
Lrrc37 |
T |
C |
11: 103,434,141 (GRCm39) |
I3009M |
unknown |
Het |
Map1a |
T |
C |
2: 121,129,501 (GRCm39) |
F180L |
probably damaging |
Het |
Mfap5 |
T |
C |
6: 122,498,889 (GRCm39) |
|
probably null |
Het |
Nckap1 |
T |
A |
2: 80,355,008 (GRCm39) |
H638L |
possibly damaging |
Het |
Optc |
C |
T |
1: 133,832,810 (GRCm39) |
V97M |
probably benign |
Het |
Or5p78 |
T |
A |
7: 108,212,150 (GRCm39) |
I212N |
probably benign |
Het |
Or8b46 |
T |
G |
9: 38,450,644 (GRCm39) |
M151R |
noncoding transcript |
Het |
Piezo1 |
A |
G |
8: 123,228,298 (GRCm39) |
Y330H |
|
Het |
Ppp1r12b |
G |
T |
1: 134,803,886 (GRCm39) |
N424K |
probably benign |
Het |
Prdm5 |
T |
A |
6: 65,913,058 (GRCm39) |
F580L |
probably damaging |
Het |
Prr27 |
A |
C |
5: 87,994,171 (GRCm39) |
K348N |
possibly damaging |
Het |
Prr30 |
A |
G |
14: 101,435,822 (GRCm39) |
Y247H |
possibly damaging |
Het |
Rbks |
A |
T |
5: 31,807,810 (GRCm39) |
|
probably benign |
Het |
Sec24d |
T |
C |
3: 123,099,535 (GRCm39) |
V336A |
possibly damaging |
Het |
Serac1 |
A |
T |
17: 6,101,033 (GRCm39) |
L457H |
probably damaging |
Het |
Serpina1f |
A |
G |
12: 103,659,757 (GRCm39) |
I175T |
probably damaging |
Het |
Smr2l |
T |
C |
5: 88,430,383 (GRCm39) |
V93A |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,426,897 (GRCm39) |
H242L |
probably benign |
Het |
Tcaf2 |
A |
T |
6: 42,606,958 (GRCm39) |
M332K |
probably benign |
Het |
Tnrc6a |
T |
A |
7: 122,769,294 (GRCm39) |
N361K |
possibly damaging |
Het |
Trim43b |
G |
T |
9: 88,967,458 (GRCm39) |
H393N |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,176,838 (GRCm39) |
L1334S |
probably benign |
Het |
Usp35 |
T |
C |
7: 96,961,551 (GRCm39) |
E625G |
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 |
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 |
|
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'- ATCTTGCGCACATCTCGAAGG -3'
(R):5'- AATGCCCCAATCTGAAGCGC -3'
Sequencing Primer
(F):5'- ACATCTCGAAGGTGGCGG -3'
(R):5'- AATCTGAAGCGCCTGTGC -3'
|
Posted On |
2020-07-28 |