Incidental Mutation 'R5086:Fbxo44'
| ID |
387429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo44
|
| Ensembl Gene |
ENSMUSG00000029001 |
| Gene Name |
F-box protein 44 |
| Synonyms |
Fbx6a, Fbxo6a, FBG3, FBX30 |
| MMRRC Submission |
042675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148237256-148244663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 148240669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 145
(T145S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030858]
[ENSMUST00000047951]
[ENSMUST00000056965]
[ENSMUST00000057907]
[ENSMUST00000105705]
[ENSMUST00000105706]
[ENSMUST00000122913]
[ENSMUST00000151127]
[ENSMUST00000173352]
[ENSMUST00000129253]
[ENSMUST00000151246]
[ENSMUST00000167160]
[ENSMUST00000152098]
[ENSMUST00000134261]
[ENSMUST00000172472]
[ENSMUST00000168503]
[ENSMUST00000132083]
|
| 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: ENSMUST00000047951
|
| SMART Domains |
Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
50 |
97 |
3.8e-9 |
PFAM |
|
Pfam:F-box-like
|
51 |
97 |
9.3e-8 |
PFAM |
|
FBA
|
114 |
297 |
3.81e-104 |
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 |
silent
Transcript: ENSMUST00000057907
|
| SMART Domains |
Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
| 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: T145S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: T145S
| 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 |
silent
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 |
silent
Transcript: ENSMUST00000153703
|
| SMART Domains |
Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBA
|
1 |
143 |
3.11e-54 |
SMART |
|
| Predicted Effect |
silent
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 |
|
| Predicted Effect |
silent
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 |
silent
Transcript: ENSMUST00000151246
|
| SMART Domains |
Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
9 |
50 |
1.37e-2 |
SMART |
|
FBA
|
68 |
231 |
1.43e-85 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000167160
|
| SMART Domains |
Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
| 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: 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: 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: 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: 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: ENSMUST00000132083
|
| SMART Domains |
Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
7 |
48 |
1e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
99% (80/81) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
T |
A |
15: 80,847,901 (GRCm39) |
M278K |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,347,397 (GRCm39) |
I147V |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,634 (GRCm39) |
L261P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,997 (GRCm39) |
|
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,968,020 (GRCm39) |
V177A |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,853,645 (GRCm39) |
S1906P |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,482,533 (GRCm39) |
Y214C |
probably benign |
Het |
| BC049715 |
C |
T |
6: 136,817,429 (GRCm39) |
T223M |
probably damaging |
Het |
| C1ra |
T |
A |
6: 124,496,688 (GRCm39) |
C375S |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,083,210 (GRCm39) |
R26* |
probably null |
Het |
| Chordc1 |
A |
G |
9: 18,224,131 (GRCm39) |
M304V |
probably benign |
Het |
| Cpne8 |
T |
C |
15: 90,532,771 (GRCm39) |
|
probably benign |
Het |
| Cracd |
A |
G |
5: 77,004,971 (GRCm39) |
E444G |
unknown |
Het |
| Csf1 |
T |
C |
3: 107,656,026 (GRCm39) |
E335G |
possibly damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,683,493 (GRCm39) |
P498L |
possibly damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,756,276 (GRCm39) |
R100H |
probably benign |
Het |
| Dnaaf2 |
G |
A |
12: 69,244,060 (GRCm39) |
R334C |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,529,189 (GRCm39) |
S1071P |
possibly damaging |
Het |
| Dtnb |
T |
C |
12: 3,682,942 (GRCm39) |
V7A |
probably benign |
Het |
| Eif1 |
T |
C |
11: 100,211,552 (GRCm39) |
I62T |
probably damaging |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,941 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
A |
T |
4: 46,724,342 (GRCm39) |
M17K |
probably damaging |
Het |
| Gm5860 |
T |
A |
4: 81,984,173 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
| Gpbp1l1 |
C |
A |
4: 116,445,789 (GRCm39) |
T297N |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,758,023 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
A |
T |
7: 106,197,234 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
C |
10: 62,231,053 (GRCm39) |
|
probably benign |
Het |
| Ighv16-1 |
T |
A |
12: 114,032,510 (GRCm39) |
L97F |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,633,686 (GRCm39) |
H441R |
probably damaging |
Het |
| Iqgap2 |
G |
T |
13: 95,772,088 (GRCm39) |
R1364S |
probably benign |
Het |
| Krtap20-2 |
G |
T |
16: 89,002,806 (GRCm39) |
C2F |
unknown |
Het |
| Man2c1 |
T |
A |
9: 57,038,924 (GRCm39) |
D111E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,134,985 (GRCm39) |
E1696K |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,159,522 (GRCm39) |
V634E |
probably benign |
Het |
| Mgam2-ps |
A |
G |
6: 40,800,547 (GRCm39) |
|
noncoding transcript |
Het |
| Mllt3 |
T |
A |
4: 87,707,535 (GRCm39) |
N68Y |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,621 (GRCm39) |
D143E |
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,301,611 (GRCm39) |
D172G |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,362,308 (GRCm39) |
N1439S |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,108,625 (GRCm39) |
M764V |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,789,087 (GRCm39) |
L205P |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,812,104 (GRCm39) |
|
probably benign |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,162 (GRCm39) |
T433S |
possibly damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,159 (GRCm39) |
Y279F |
probably damaging |
Het |
| Pim3 |
T |
C |
15: 88,748,606 (GRCm39) |
L235P |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,203,082 (GRCm39) |
S685F |
possibly damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,853,649 (GRCm39) |
H167Q |
probably damaging |
Het |
| Plekhn1 |
G |
C |
4: 156,306,881 (GRCm39) |
P503A |
probably benign |
Het |
| Sar1a |
T |
C |
10: 61,527,125 (GRCm39) |
L181P |
probably damaging |
Het |
| Sec22a |
G |
T |
16: 35,168,112 (GRCm39) |
S133* |
probably null |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Slc31a1 |
T |
C |
4: 62,306,190 (GRCm39) |
S103P |
probably damaging |
Het |
| Spag6 |
A |
C |
2: 18,747,688 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,865,581 (GRCm39) |
D1769V |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
A |
G |
9: 90,109,510 (GRCm39) |
L322P |
probably benign |
Het |
| Tdrp |
T |
C |
8: 14,024,590 (GRCm39) |
E18G |
possibly damaging |
Het |
| Tlr3 |
T |
A |
8: 45,855,862 (GRCm39) |
N106I |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,092,227 (GRCm39) |
I112N |
probably damaging |
Het |
| Tmem14c |
C |
T |
13: 41,174,598 (GRCm39) |
T69I |
probably benign |
Het |
| Tmprss11g |
G |
A |
5: 86,644,377 (GRCm39) |
P156S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,700,947 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,082 (GRCm39) |
I296N |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,418 (GRCm39) |
V358D |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,677,375 (GRCm39) |
L892P |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,451 (GRCm39) |
Q204R |
probably benign |
Het |
| Zfp598 |
C |
A |
17: 24,899,872 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8899:Fbxo44
|
UTSW |
4 |
148,238,078 (GRCm39) |
nonsense |
probably null |
|
|
X0017:Fbxo44
|
UTSW |
4 |
148,240,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTCTTTAGGCCCAGATATTTAC -3'
(R):5'- ACATCGAGGTCAAGGACTGG -3'
Sequencing Primer
(F):5'- TATGCTAGCTAGGCAATCGGTACAC -3'
(R):5'- CTTTATCTGCAGGTTTGCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation