Incidental Mutation 'R2935:Fbxl19'
| ID |
254996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl19
|
| Ensembl Gene |
ENSMUSG00000030811 |
| Gene Name |
F-box and leucine-rich repeat protein 19 |
| Synonyms |
Fbl19 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R2935 (G1)
|
| Quality Score |
132 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127343715-127368655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127351432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 304
(R304H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033081]
[ENSMUST00000186116]
[ENSMUST00000186207]
[ENSMUST00000188580]
[ENSMUST00000189562]
[ENSMUST00000205689]
[ENSMUST00000206893]
|
| AlphaFold |
Q6PB97 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033081
AA Change: R347H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033081
Gene: ENSMUSG00000030811
AA Change: R347H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.7e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
377 |
N/A |
INTRINSIC |
|
FBOX
|
404 |
444 |
4.6e-4 |
SMART |
|
low complexity region
|
509 |
520 |
N/A |
INTRINSIC |
|
LRR
|
576 |
601 |
3.58e1 |
SMART |
|
LRR
|
631 |
656 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186116
AA Change: R55H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140083
Gene: ENSMUSG00000030811
AA Change: R55H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
85 |
N/A |
INTRINSIC |
|
FBOX
|
112 |
152 |
3e-6 |
SMART |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
LRR
|
284 |
309 |
1.5e-1 |
SMART |
|
LRR
|
339 |
364 |
5.3e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186207
AA Change: R347H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140303
Gene: ENSMUSG00000030811
AA Change: R347H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.7e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
377 |
N/A |
INTRINSIC |
|
FBOX
|
404 |
444 |
4.6e-4 |
SMART |
|
low complexity region
|
509 |
520 |
N/A |
INTRINSIC |
|
LRR
|
576 |
601 |
3.58e1 |
SMART |
|
LRR
|
631 |
656 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188580
AA Change: R231H
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140021
Gene: ENSMUSG00000030811
AA Change: R231H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.3e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
186 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
261 |
N/A |
INTRINSIC |
|
FBOX
|
288 |
328 |
4.6e-4 |
SMART |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
LRR
|
460 |
485 |
3.58e1 |
SMART |
|
LRR
|
515 |
540 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189562
|
| SMART Domains |
Protein: ENSMUSP00000139972
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
9.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205689
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206893
AA Change: R304H
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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 Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,189 (GRCm39) |
I894T |
probably damaging |
Het |
| Cd55 |
A |
G |
1: 130,380,163 (GRCm39) |
S272P |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 111,015,886 (GRCm39) |
V467A |
probably damaging |
Het |
| Cyp11a1 |
A |
G |
9: 57,923,673 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ddx39a |
T |
A |
8: 84,447,587 (GRCm39) |
V144D |
possibly damaging |
Het |
| Ide |
A |
G |
19: 37,302,706 (GRCm39) |
F135L |
unknown |
Het |
| Khdc3 |
T |
C |
9: 73,010,987 (GRCm39) |
V255A |
possibly damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,764,146 (GRCm39) |
I25V |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mark2 |
T |
C |
19: 7,263,254 (GRCm39) |
N204S |
probably benign |
Het |
| Or1l4b |
A |
G |
2: 37,037,123 (GRCm39) |
K300E |
possibly damaging |
Het |
| Or4c123 |
A |
T |
2: 89,127,604 (GRCm39) |
N3K |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,279,914 (GRCm39) |
I219T |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,452,042 (GRCm39) |
S521P |
probably benign |
Het |
| Rxrb |
CGCGGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGCGGC |
17: 34,251,106 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,718,900 (GRCm39) |
P823L |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 52,971,104 (GRCm39) |
D8G |
probably damaging |
Het |
| Stau1 |
G |
A |
2: 166,797,037 (GRCm39) |
T120I |
probably benign |
Het |
| Stxbp5l |
G |
T |
16: 36,954,551 (GRCm39) |
H920N |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 129,605,824 (GRCm39) |
T522A |
possibly damaging |
Het |
|
| Other mutations in Fbxl19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0559:Fbxl19
|
UTSW |
7 |
127,349,390 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1933:Fbxl19
|
UTSW |
7 |
127,350,101 (GRCm39) |
missense |
probably benign |
|
|
R2280:Fbxl19
|
UTSW |
7 |
127,347,540 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5580:Fbxl19
|
UTSW |
7 |
127,350,168 (GRCm39) |
nonsense |
probably null |
|
|
R6032:Fbxl19
|
UTSW |
7 |
127,360,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Fbxl19
|
UTSW |
7 |
127,360,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Fbxl19
|
UTSW |
7 |
127,351,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6540:Fbxl19
|
UTSW |
7 |
127,347,525 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6825:Fbxl19
|
UTSW |
7 |
127,349,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7136:Fbxl19
|
UTSW |
7 |
127,349,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8327:Fbxl19
|
UTSW |
7 |
127,347,520 (GRCm39) |
nonsense |
probably null |
|
|
X0060:Fbxl19
|
UTSW |
7 |
127,366,975 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1176:Fbxl19
|
UTSW |
7 |
127,360,447 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAAGCGCATGTGCCAG -3'
(R):5'- ATGCAGACACATAGCTCACGG -3'
Sequencing Primer
(F):5'- GCATGTGCCAGCTGCTG -3'
(R):5'- ACATAGCTCACGGGGTCCAAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation