Incidental Mutation 'R5957:Fbxw13'
ID |
471229 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxw13
|
Ensembl Gene |
ENSMUSG00000049314 |
Gene Name |
F-box and WD-40 domain protein 13 |
Synonyms |
|
MMRRC Submission |
043246-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5957 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
109008295-109025043 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 109021734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061456]
[ENSMUST00000199102]
[ENSMUST00000199102]
[ENSMUST00000199118]
|
AlphaFold |
Q8BI57 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061456
|
SMART Domains |
Protein: ENSMUSP00000053786 Gene: ENSMUSG00000049314
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
9.33e-5 |
SMART |
SCOP:d1gxra_
|
128 |
249 |
8e-7 |
SMART |
Blast:WD40
|
137 |
176 |
2e-7 |
BLAST |
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199102
|
SMART Domains |
Protein: ENSMUSP00000142352 Gene: ENSMUSG00000049314
Domain | Start | End | E-Value | Type |
SCOP:d1gxra_
|
45 |
166 |
1e-7 |
SMART |
Blast:WD40
|
54 |
93 |
7e-8 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199102
|
SMART Domains |
Protein: ENSMUSP00000142352 Gene: ENSMUSG00000049314
Domain | Start | End | E-Value | Type |
SCOP:d1gxra_
|
45 |
166 |
1e-7 |
SMART |
Blast:WD40
|
54 |
93 |
7e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199118
|
SMART Domains |
Protein: ENSMUSP00000143174 Gene: ENSMUSG00000049314
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.25e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,775,922 (GRCm39) |
T1704A |
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,593,790 (GRCm39) |
N142I |
probably damaging |
Het |
Aldh18a1 |
A |
T |
19: 40,558,981 (GRCm39) |
Y286* |
probably null |
Het |
Arpp21 |
T |
C |
9: 112,014,754 (GRCm39) |
T17A |
probably benign |
Het |
Bnip2 |
T |
C |
9: 69,906,520 (GRCm39) |
I147T |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,922,893 (GRCm39) |
Y3H |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Cul7 |
G |
A |
17: 46,968,683 (GRCm39) |
G553S |
probably damaging |
Het |
Cyp21a1 |
A |
G |
17: 35,022,150 (GRCm39) |
I206T |
probably benign |
Het |
Dennd4b |
A |
G |
3: 90,178,272 (GRCm39) |
D488G |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,107,575 (GRCm39) |
L1195P |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,790,558 (GRCm39) |
V185A |
probably benign |
Het |
Dock5 |
T |
A |
14: 68,095,443 (GRCm39) |
H77L |
probably benign |
Het |
Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
Gbf1 |
G |
T |
19: 46,234,660 (GRCm39) |
|
probably null |
Het |
Gm4846 |
T |
C |
1: 166,314,522 (GRCm39) |
I374V |
probably benign |
Het |
Gsk3b |
C |
A |
16: 38,014,315 (GRCm39) |
P258T |
probably damaging |
Het |
Igsf5 |
T |
C |
16: 96,165,249 (GRCm39) |
V8A |
probably benign |
Het |
Il22 |
T |
A |
10: 118,041,071 (GRCm39) |
L59Q |
probably damaging |
Het |
Ildr1 |
T |
C |
16: 36,545,896 (GRCm39) |
*517Q |
probably null |
Het |
Iqca1 |
T |
A |
1: 90,008,670 (GRCm39) |
D450V |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,259,856 (GRCm39) |
D647G |
probably benign |
Het |
Myh7 |
T |
G |
14: 55,226,535 (GRCm39) |
N408T |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,055,266 (GRCm39) |
M564V |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,012,947 (GRCm39) |
M407K |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,285,706 (GRCm39) |
E219G |
probably benign |
Het |
Oprd1 |
C |
T |
4: 131,871,474 (GRCm39) |
V75I |
probably benign |
Het |
Poli |
G |
A |
18: 70,650,511 (GRCm39) |
H310Y |
probably benign |
Het |
Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,672,929 (GRCm39) |
R755H |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,246,494 (GRCm39) |
M351K |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,223,831 (GRCm39) |
L341P |
possibly damaging |
Het |
Slc47a1 |
A |
G |
11: 61,235,168 (GRCm39) |
V555A |
probably benign |
Het |
Slc8a2 |
C |
A |
7: 15,879,209 (GRCm39) |
T565K |
possibly damaging |
Het |
Snx14 |
T |
C |
9: 88,285,327 (GRCm39) |
I446V |
possibly damaging |
Het |
Syde1 |
T |
C |
10: 78,425,951 (GRCm39) |
Y72C |
probably damaging |
Het |
Trim37 |
C |
T |
11: 87,036,377 (GRCm39) |
R138C |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,464,710 (GRCm39) |
S530R |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,862,253 (GRCm39) |
S2957P |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,133,695 (GRCm39) |
|
probably null |
Het |
Zyg11b |
T |
C |
4: 108,102,210 (GRCm39) |
K504E |
probably damaging |
Het |
|
Other mutations in Fbxw13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02033:Fbxw13
|
APN |
9 |
109,010,484 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02455:Fbxw13
|
APN |
9 |
109,012,255 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03154:Fbxw13
|
APN |
9 |
109,010,533 (GRCm39) |
missense |
probably damaging |
0.96 |
R0304:Fbxw13
|
UTSW |
9 |
109,023,789 (GRCm39) |
missense |
probably benign |
0.02 |
R1259:Fbxw13
|
UTSW |
9 |
109,014,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Fbxw13
|
UTSW |
9 |
109,010,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Fbxw13
|
UTSW |
9 |
109,010,611 (GRCm39) |
missense |
probably benign |
0.10 |
R2877:Fbxw13
|
UTSW |
9 |
109,010,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R2878:Fbxw13
|
UTSW |
9 |
109,010,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Fbxw13
|
UTSW |
9 |
109,013,299 (GRCm39) |
nonsense |
probably null |
|
R4321:Fbxw13
|
UTSW |
9 |
109,010,503 (GRCm39) |
missense |
probably benign |
0.10 |
R4969:Fbxw13
|
UTSW |
9 |
109,010,592 (GRCm39) |
splice site |
probably null |
|
R5024:Fbxw13
|
UTSW |
9 |
109,008,403 (GRCm39) |
missense |
probably benign |
0.00 |
R5450:Fbxw13
|
UTSW |
9 |
109,013,225 (GRCm39) |
missense |
probably benign |
0.41 |
R6801:Fbxw13
|
UTSW |
9 |
109,023,795 (GRCm39) |
missense |
probably null |
1.00 |
R7448:Fbxw13
|
UTSW |
9 |
109,014,471 (GRCm39) |
missense |
unknown |
|
R7710:Fbxw13
|
UTSW |
9 |
109,024,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Fbxw13
|
UTSW |
9 |
109,012,122 (GRCm39) |
missense |
probably benign |
0.45 |
R8320:Fbxw13
|
UTSW |
9 |
109,012,134 (GRCm39) |
missense |
probably benign |
0.02 |
R8714:Fbxw13
|
UTSW |
9 |
109,023,832 (GRCm39) |
missense |
probably benign |
0.00 |
R8845:Fbxw13
|
UTSW |
9 |
109,023,833 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8884:Fbxw13
|
UTSW |
9 |
109,010,469 (GRCm39) |
missense |
probably benign |
0.00 |
R8979:Fbxw13
|
UTSW |
9 |
109,013,197 (GRCm39) |
missense |
probably damaging |
0.96 |
R9223:Fbxw13
|
UTSW |
9 |
109,024,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R9318:Fbxw13
|
UTSW |
9 |
109,008,382 (GRCm39) |
missense |
probably benign |
0.17 |
X0065:Fbxw13
|
UTSW |
9 |
109,021,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCTGCACAGATGGCTAAG -3'
(R):5'- AACATACCTTCTTCGGTCTGAGTTG -3'
Sequencing Primer
(F):5'- AAGGGACCTGACATCCTCTTGTG -3'
(R):5'- TCGGTCTGAGTTGTCCCTC -3'
|
Posted On |
2017-03-31 |