Incidental Mutation 'R9431:Fbxl17'
| ID |
712983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl17
|
| Ensembl Gene |
ENSMUSG00000023965 |
| Gene Name |
F-box and leucine-rich repeat protein 17 |
| Synonyms |
6330576B01Rik, C130023C01Rik, Fbxo13, Fbx13 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.821)
|
| Stock # |
R9431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
63364447-63807012 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63387489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 631
(T631I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024761]
[ENSMUST00000112840]
|
| AlphaFold |
Q9QZN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024761
AA Change: T631I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: T631I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
270 |
N/A |
INTRINSIC |
|
FBOX
|
324 |
365 |
3.1e-8 |
SMART |
|
LRR
|
359 |
384 |
4.6e-1 |
SMART |
|
LRR
|
385 |
410 |
2e-1 |
SMART |
|
LRR
|
411 |
436 |
8.5e-2 |
SMART |
|
LRR
|
437 |
462 |
6.9e-4 |
SMART |
|
LRR
|
463 |
488 |
1.3e-5 |
SMART |
|
LRR
|
489 |
514 |
5.2e-2 |
SMART |
|
LRR
|
515 |
539 |
2.9e-3 |
SMART |
|
LRR
|
540 |
564 |
2e-1 |
SMART |
|
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
|
LRR
|
591 |
615 |
8.4e-4 |
SMART |
|
LRR
|
616 |
641 |
2.2e-1 |
SMART |
|
LRR
|
642 |
667 |
6.3e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112840
AA Change: T150I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965
AA Change: T150I
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
8 |
33 |
1.2e1 |
SMART |
|
LRR
|
34 |
58 |
6.57e-1 |
SMART |
|
LRR
|
59 |
83 |
4.67e1 |
SMART |
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
LRR
|
110 |
134 |
1.89e-1 |
SMART |
|
LRR
|
135 |
160 |
5.25e1 |
SMART |
|
LRR
|
161 |
186 |
1.47e2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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 FBXL17, 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
C |
5: 88,120,325 (GRCm39) |
I361L |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,592,594 (GRCm39) |
P446L |
probably damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,170,463 (GRCm39) |
A1081D |
probably damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,545,740 (GRCm39) |
K299* |
probably null |
Het |
| Cpq |
C |
T |
15: 33,250,078 (GRCm39) |
T145I |
probably benign |
Het |
| Creb1 |
C |
A |
1: 64,615,413 (GRCm39) |
A215E |
probably damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,173,814 (GRCm39) |
A118E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,450,812 (GRCm39) |
F3873I |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,583,593 (GRCm39) |
Y203C |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,990,150 (GRCm39) |
V23A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,142,838 (GRCm39) |
D4337G |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Focad |
A |
G |
4: 88,321,583 (GRCm39) |
M1559V |
unknown |
Het |
| Fras1 |
A |
T |
5: 96,900,873 (GRCm39) |
I3031L |
possibly damaging |
Het |
| Gnas |
T |
C |
2: 174,139,826 (GRCm39) |
S58P |
unknown |
Het |
| Hdac9 |
G |
A |
12: 34,440,327 (GRCm39) |
Q351* |
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,167 (GRCm39) |
N92I |
probably damaging |
Het |
| Kank1 |
C |
A |
19: 25,387,866 (GRCm39) |
T513N |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,101,123 (GRCm39) |
T599A |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,392,253 (GRCm39) |
L992M |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,723,889 (GRCm39) |
Y245C |
probably damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,164 (GRCm39) |
H153R |
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,667,771 (GRCm39) |
Y716* |
probably null |
Het |
| Mroh2b |
A |
T |
15: 4,963,952 (GRCm39) |
D848V |
probably damaging |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,682 (GRCm39) |
I216S |
possibly damaging |
Het |
| Or2d2b |
T |
A |
7: 106,705,336 (GRCm39) |
H244L |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,459 (GRCm39) |
I29V |
probably benign |
Het |
| Or5h27 |
A |
G |
16: 59,006,090 (GRCm39) |
V252A |
unknown |
Het |
| Or6ae1 |
T |
A |
7: 139,741,942 (GRCm39) |
Q307L |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,898,815 (GRCm39) |
E170G |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,780,074 (GRCm39) |
V112A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,229,545 (GRCm39) |
S125P |
probably benign |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slc12a5 |
T |
C |
2: 164,832,178 (GRCm39) |
V699A |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,278,742 (GRCm39) |
V49A |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,598,596 (GRCm39) |
T218A |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,505,278 (GRCm39) |
D422G |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,324,363 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Slc39a8 |
T |
C |
3: 135,563,923 (GRCm39) |
V256A |
probably benign |
Het |
| Slc45a2 |
G |
A |
15: 11,026,005 (GRCm39) |
E452K |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,546,035 (GRCm39) |
C60Y |
probably damaging |
Het |
| St8sia3 |
T |
A |
18: 64,398,640 (GRCm39) |
L33Q |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Trim37 |
T |
A |
11: 87,077,257 (GRCm39) |
V529E |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,178,225 (GRCm39) |
T431S |
probably benign |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,544,679 (GRCm39) |
V32808M |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,168,856 (GRCm39) |
Y758C |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,423,046 (GRCm39) |
P1015S |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,236,035 (GRCm39) |
R413G |
probably damaging |
Het |
| Zbtb41 |
C |
T |
1: 139,350,781 (GRCm39) |
|
probably benign |
Het |
| Zfp119b |
A |
G |
17: 56,246,536 (GRCm39) |
S217P |
possibly damaging |
Het |
|
| Other mutations in Fbxl17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Fbxl17
|
APN |
17 |
63,692,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Fbxl17
|
APN |
17 |
63,806,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02256:Fbxl17
|
APN |
17 |
63,806,085 (GRCm39) |
missense |
probably benign |
|
|
IGL03408:Fbxl17
|
APN |
17 |
63,387,541 (GRCm39) |
nonsense |
probably null |
|
|
R0268:Fbxl17
|
UTSW |
17 |
63,692,062 (GRCm39) |
splice site |
probably benign |
|
|
R0269:Fbxl17
|
UTSW |
17 |
63,691,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0313:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Fbxl17
|
UTSW |
17 |
63,692,062 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0553:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Fbxl17
|
UTSW |
17 |
63,691,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0629:Fbxl17
|
UTSW |
17 |
63,778,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Fbxl17
|
UTSW |
17 |
63,794,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Fbxl17
|
UTSW |
17 |
63,692,060 (GRCm39) |
splice site |
probably null |
|
|
R3001:Fbxl17
|
UTSW |
17 |
63,532,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3002:Fbxl17
|
UTSW |
17 |
63,532,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3121:Fbxl17
|
UTSW |
17 |
63,778,419 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3909:Fbxl17
|
UTSW |
17 |
63,806,802 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4789:Fbxl17
|
UTSW |
17 |
63,794,910 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6606:Fbxl17
|
UTSW |
17 |
63,794,783 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7153:Fbxl17
|
UTSW |
17 |
63,367,346 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7722:Fbxl17
|
UTSW |
17 |
63,663,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7794:Fbxl17
|
UTSW |
17 |
63,663,806 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7841:Fbxl17
|
UTSW |
17 |
63,794,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8076:Fbxl17
|
UTSW |
17 |
63,367,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8178:Fbxl17
|
UTSW |
17 |
63,794,967 (GRCm39) |
splice site |
probably null |
|
|
R8338:Fbxl17
|
UTSW |
17 |
63,663,753 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8873:Fbxl17
|
UTSW |
17 |
63,691,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9113:Fbxl17
|
UTSW |
17 |
63,532,085 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9444:Fbxl17
|
UTSW |
17 |
63,778,455 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9581:Fbxl17
|
UTSW |
17 |
63,806,525 (GRCm39) |
missense |
probably benign |
|
|
R9660:Fbxl17
|
UTSW |
17 |
63,806,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9756:Fbxl17
|
UTSW |
17 |
63,367,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0019:Fbxl17
|
UTSW |
17 |
63,367,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCATGGCTAATGGTGTGC -3'
(R):5'- CTGTGTCCAATGAAAGGGAAATTG -3'
Sequencing Primer
(F):5'- CTAATGGTGTGCATGGCTTAC -3'
(R):5'- TCACTGCACACAAGGGTTTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation