Incidental Mutation 'R6266:Fbxl12'
| ID |
507013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl12
|
| Ensembl Gene |
ENSMUSG00000066892 |
| Gene Name |
F-box and leucine-rich repeat protein 12 |
| Synonyms |
3110048D16Rik |
| MMRRC Submission |
044378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20549045-20556064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20549911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 271
(L271Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086458]
[ENSMUST00000086459]
[ENSMUST00000129414]
[ENSMUST00000131128]
[ENSMUST00000131343]
[ENSMUST00000140702]
[ENSMUST00000148631]
[ENSMUST00000151861]
[ENSMUST00000155301]
|
| AlphaFold |
Q9EPX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086458
AA Change: L195Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: L195Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086459
AA Change: L248Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: L248Q
| 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 damaging
Transcript: ENSMUST00000131128
AA Change: L195Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: L195Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131343
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140702
AA Change: L195Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: L195Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148631
AA Change: L248Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: L248Q
| 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: L271Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: L271Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
50 |
238 |
4e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153154
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154429
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
| Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
| Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
| Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
| Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
| Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,426,683 (GRCm39) |
N1133K |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
| Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,414 (GRCm39) |
I136V |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
| Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
| Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
| Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
T |
C |
7: 105,385,596 (GRCm39) |
E3G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
| Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,126 (GRCm39) |
V147I |
probably benign |
Het |
| Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
| Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
| Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
| Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
| Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
| Tsen34 |
A |
G |
7: 3,696,984 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,159,411 (GRCm39) |
S513P |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,176 (GRCm39) |
S392T |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
| Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
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 |
|
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'- CTAACAATAACTATGCAGTGGGGC -3'
(R):5'- TGGAATGCATCGTGCTGGAC -3'
Sequencing Primer
(F):5'- GCAGGCCCTTGCACAGG -3'
(R):5'- ATGAGCATCTGCAGGGCCTTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation