Incidental Mutation 'R8899:Fbxo44'
| ID |
679823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo44
|
| Ensembl Gene |
ENSMUSG00000029001 |
| Gene Name |
F-box protein 44 |
| Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
| MMRRC Submission |
068756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8899 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 148238078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 216
(Y216*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000056965]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000105706]
[ENSMUST00000122913]
[ENSMUST00000126615]
[ENSMUST00000129253]
[ENSMUST00000132083]
[ENSMUST00000134261]
[ENSMUST00000151127]
[ENSMUST00000151246]
[ENSMUST00000152098]
[ENSMUST00000167160]
[ENSMUST00000168503]
[ENSMUST00000172472]
[ENSMUST00000173352]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030858
|
| SMART Domains |
Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056965
|
| SMART Domains |
Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000057907
AA Change: Y216*
|
| SMART Domains |
Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: Y216*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
252 |
2.24e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105705
AA Change: S175T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: S175T
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
196 |
2.79e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105706
|
| SMART Domains |
Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122913
|
| SMART Domains |
Protein: ENSMUSP00000120874
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
Pfam:FBA
|
68 |
115 |
3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126615
|
| SMART Domains |
Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
237 |
1.39e-97 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129253
|
| SMART Domains |
Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
213 |
1.15e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132083
|
| SMART Domains |
Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134261
|
| SMART Domains |
Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
228 |
1.89e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151127
|
| SMART Domains |
Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
235 |
4.09e-63 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151246
AA Change: Y216*
|
| SMART Domains |
Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: Y216*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
231 |
1.43e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152098
|
| SMART Domains |
Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153703
|
| SMART Domains |
Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBA
|
1 |
143 |
3.11e-54 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167160
AA Change: Y216*
|
| SMART Domains |
Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: Y216*
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
252 |
2.24e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168503
|
| SMART Domains |
Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
FBA
|
66 |
250 |
2.51e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172472
|
| SMART Domains |
Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
Pfam:FBA
|
68 |
126 |
3.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173352
|
| SMART Domains |
Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
62 |
103 |
1.37e-2 |
SMART |
|
FBA
|
121 |
254 |
3.86e-50 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,900 (GRCm39) |
N167I |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,981,017 (GRCm39) |
I330T |
probably benign |
Het |
| Ate1 |
T |
C |
7: 129,996,389 (GRCm39) |
K484E |
possibly damaging |
Het |
| Atl2 |
T |
C |
17: 80,183,469 (GRCm39) |
D42G |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,042,429 (GRCm39) |
I2805T |
probably damaging |
Het |
| Cd209e |
C |
T |
8: 3,901,212 (GRCm39) |
W147* |
probably null |
Het |
| Cdc40 |
G |
A |
10: 40,717,809 (GRCm39) |
Q365* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,945,644 (GRCm39) |
T1053A |
probably benign |
Het |
| Colgalt1 |
T |
C |
8: 72,076,306 (GRCm39) |
S586P |
probably damaging |
Het |
| Crem |
A |
G |
18: 3,295,370 (GRCm39) |
I91T |
probably damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,852,987 (GRCm39) |
V460I |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,474,246 (GRCm39) |
I136N |
possibly damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,929 (GRCm39) |
I273N |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,348,817 (GRCm39) |
I505T |
probably damaging |
Het |
| Fbxw10 |
T |
A |
11: 62,748,567 (GRCm39) |
M398K |
probably damaging |
Het |
| Fut10 |
T |
C |
8: 31,726,514 (GRCm39) |
V423A |
possibly damaging |
Het |
| Fyco1 |
A |
C |
9: 123,655,646 (GRCm39) |
D1037E |
probably benign |
Het |
| Gabrg2 |
G |
A |
11: 41,867,377 (GRCm39) |
R81* |
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,717,220 (GRCm39) |
V204A |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,299,608 (GRCm39) |
L593P |
probably damaging |
Het |
| Grm4 |
T |
C |
17: 27,653,754 (GRCm39) |
Q732R |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,948,415 (GRCm39) |
V741A |
possibly damaging |
Het |
| Iqub |
C |
T |
6: 24,505,768 (GRCm39) |
E47K |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,580 (GRCm39) |
K210R |
probably benign |
Het |
| Kdm2b |
T |
A |
5: 123,125,851 (GRCm39) |
R12* |
probably null |
Het |
| Kifbp |
T |
C |
10: 62,399,282 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lgi1 |
C |
T |
19: 38,294,538 (GRCm39) |
H413Y |
probably damaging |
Het |
| Lhx8 |
A |
G |
3: 154,033,653 (GRCm39) |
Y51H |
probably damaging |
Het |
| Lim2 |
T |
C |
7: 43,083,055 (GRCm39) |
I80T |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,368,852 (GRCm39) |
F405L |
probably benign |
Het |
| Mefv |
G |
A |
16: 3,528,764 (GRCm39) |
T559I |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,077,710 (GRCm39) |
W1739R |
probably damaging |
Het |
| Or10h1 |
A |
T |
17: 33,418,718 (GRCm39) |
K232M |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,269 (GRCm39) |
F19L |
probably damaging |
Het |
| Or5t16 |
A |
G |
2: 86,818,710 (GRCm39) |
I270T |
probably benign |
Het |
| Or8b3b |
C |
T |
9: 38,584,147 (GRCm39) |
V198I |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,231,886 (GRCm39) |
|
probably null |
Het |
| Pate9 |
A |
T |
9: 36,446,254 (GRCm39) |
C53S |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,082 (GRCm39) |
I247V |
probably benign |
Het |
| Polr2d |
T |
A |
18: 31,922,226 (GRCm39) |
M1K |
probably null |
Het |
| Prss53 |
T |
C |
7: 127,488,193 (GRCm39) |
T141A |
possibly damaging |
Het |
| Rdh12 |
A |
G |
12: 79,268,802 (GRCm39) |
N293S |
probably benign |
Het |
| Rnf146 |
G |
A |
10: 29,223,754 (GRCm39) |
T44I |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,101,865 (GRCm39) |
C588S |
probably damaging |
Het |
| Septin8 |
G |
A |
11: 53,426,862 (GRCm39) |
V208I |
probably damaging |
Het |
| Sgo2a |
T |
G |
1: 58,058,822 (GRCm39) |
S1134A |
possibly damaging |
Het |
| Sh3bp4 |
C |
T |
1: 89,073,297 (GRCm39) |
T715I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,078,517 (GRCm39) |
T1758A |
probably damaging |
Het |
| Snx6 |
A |
T |
12: 54,812,423 (GRCm39) |
D70E |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,983,695 (GRCm39) |
S341P |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,590 (GRCm39) |
D278G |
probably benign |
Het |
| Spmap2l |
T |
A |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
T |
A |
17: 86,292,885 (GRCm39) |
S895C |
|
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tas2r136 |
T |
C |
6: 132,754,323 (GRCm39) |
D268G |
probably benign |
Het |
| Tas2r143 |
T |
A |
6: 42,377,888 (GRCm39) |
Y239* |
probably null |
Het |
| Tbc1d17 |
C |
T |
7: 44,492,328 (GRCm39) |
G419D |
probably damaging |
Het |
| Tff2 |
C |
T |
17: 31,362,113 (GRCm39) |
W68* |
probably null |
Het |
| Thop1 |
T |
C |
10: 80,916,440 (GRCm39) |
C483R |
probably damaging |
Het |
| Tmem245 |
A |
C |
4: 56,903,916 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
A |
G |
4: 12,055,038 (GRCm39) |
F655S |
probably damaging |
Het |
| Trim36 |
T |
G |
18: 46,302,264 (GRCm39) |
S583R |
possibly damaging |
Het |
| Ucp1 |
T |
C |
8: 84,017,216 (GRCm39) |
V2A |
probably benign |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,803 (GRCm39) |
M203K |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,819,347 (GRCm39) |
K270E |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,841,783 (GRCm39) |
F1935S |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp799 |
G |
T |
17: 33,039,348 (GRCm39) |
P306Q |
probably damaging |
Het |
| Zfp831 |
A |
T |
2: 174,485,978 (GRCm39) |
R218W |
probably damaging |
Het |
|
| Other mutations in Fbxo44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
trompo
|
UTSW |
4 |
148,240,461 (GRCm39) |
missense |
probably benign |
|
|
R0040:Fbxo44
|
UTSW |
4 |
148,243,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Fbxo44
|
UTSW |
4 |
148,243,266 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0850:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0899:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Fbxo44
|
UTSW |
4 |
148,240,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1423:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Fbxo44
|
UTSW |
4 |
148,240,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Fbxo44
|
UTSW |
4 |
148,240,461 (GRCm39) |
missense |
probably benign |
|
|
R3774:Fbxo44
|
UTSW |
4 |
148,241,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3834:Fbxo44
|
UTSW |
4 |
148,240,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Fbxo44
|
UTSW |
4 |
148,238,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Fbxo44
|
UTSW |
4 |
148,240,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Fbxo44
|
UTSW |
4 |
148,240,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5108:Fbxo44
|
UTSW |
4 |
148,243,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Fbxo44
|
UTSW |
4 |
148,238,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5423:Fbxo44
|
UTSW |
4 |
148,238,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5930:Fbxo44
|
UTSW |
4 |
148,241,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Fbxo44
|
UTSW |
4 |
148,243,010 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6132:Fbxo44
|
UTSW |
4 |
148,240,565 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6498:Fbxo44
|
UTSW |
4 |
148,238,882 (GRCm39) |
|
|
|
|
R7085:Fbxo44
|
UTSW |
4 |
148,243,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7142:Fbxo44
|
UTSW |
4 |
148,243,269 (GRCm39) |
missense |
unknown |
|
|
R7374:Fbxo44
|
UTSW |
4 |
148,241,094 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7679:Fbxo44
|
UTSW |
4 |
148,238,089 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8306:Fbxo44
|
UTSW |
4 |
148,243,089 (GRCm39) |
missense |
probably benign |
0.42 |
|
X0017:Fbxo44
|
UTSW |
4 |
148,240,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCCTGGCCCTTTCTGA -3'
(R):5'- TGTCCCTCTGTTCTTCTCGAAAA -3'
Sequencing Primer
(F):5'- ACTGTTTACTAATTAGGGCTCTGAG -3'
(R):5'- TGGAACCTTGGTCCTCTACAAGAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation