Incidental Mutation 'R0694:Asb13'
| ID |
63432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb13
|
| Ensembl Gene |
ENSMUSG00000033781 |
| Gene Name |
ankyrin repeat and SOCS box-containing 13 |
| Synonyms |
6430573K02Rik, 2210015B19Rik |
| MMRRC Submission |
038879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R0694 (G1)
|
| Quality Score |
105 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
3684032-3703822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3699480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 227
(A227S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042288]
|
| AlphaFold |
Q8VBX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042288
AA Change: A227S
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: A227S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
18 |
47 |
1.25e2 |
SMART |
|
ANK
|
51 |
80 |
3.91e-3 |
SMART |
|
ANK
|
84 |
113 |
1.53e-5 |
SMART |
|
ANK
|
116 |
145 |
3.71e-4 |
SMART |
|
ANK
|
149 |
178 |
6.65e-6 |
SMART |
|
ANK
|
181 |
210 |
6.92e-4 |
SMART |
|
SOCS_box
|
239 |
278 |
2.43e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141147
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157850
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
C |
T |
13: 14,362,419 (GRCm39) |
T961I |
probably damaging |
Het |
| Atp6v1g1 |
C |
T |
4: 63,468,230 (GRCm39) |
R78W |
probably benign |
Het |
| Bglap2 |
C |
T |
3: 88,285,723 (GRCm39) |
D31N |
possibly damaging |
Het |
| Dsn1 |
T |
C |
2: 156,847,789 (GRCm39) |
T2A |
possibly damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,128,423 (GRCm39) |
I248N |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,209,295 (GRCm39) |
R385Q |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,844,424 (GRCm39) |
N284S |
probably damaging |
Het |
| Hus1 |
C |
T |
11: 8,957,531 (GRCm39) |
W144* |
probably null |
Het |
| Kcna1 |
T |
C |
6: 126,619,208 (GRCm39) |
T371A |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,586,501 (GRCm39) |
N2510I |
probably damaging |
Het |
| Ptprn2 |
G |
T |
12: 116,787,975 (GRCm39) |
A105S |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sema6d |
T |
C |
2: 124,505,961 (GRCm39) |
S633P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,927,711 (GRCm39) |
N362S |
probably damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,921 (GRCm39) |
W126* |
probably null |
Het |
| Trim50 |
A |
T |
5: 135,382,399 (GRCm39) |
I84L |
probably benign |
Het |
| Trpc3 |
A |
T |
3: 36,725,704 (GRCm39) |
F91I |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 81,884,148 (GRCm39) |
Y5C |
probably damaging |
Het |
|
| Other mutations in Asb13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Asb13
|
APN |
13 |
3,693,476 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL00929:Asb13
|
APN |
13 |
3,699,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01533:Asb13
|
APN |
13 |
3,692,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0654:Asb13
|
UTSW |
13 |
3,692,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Asb13
|
UTSW |
13 |
3,695,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2014:Asb13
|
UTSW |
13 |
3,699,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2290:Asb13
|
UTSW |
13 |
3,699,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Asb13
|
UTSW |
13 |
3,695,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4322:Asb13
|
UTSW |
13 |
3,695,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4324:Asb13
|
UTSW |
13 |
3,695,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4895:Asb13
|
UTSW |
13 |
3,693,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5305:Asb13
|
UTSW |
13 |
3,693,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6417:Asb13
|
UTSW |
13 |
3,693,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6420:Asb13
|
UTSW |
13 |
3,693,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Asb13
|
UTSW |
13 |
3,695,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7648:Asb13
|
UTSW |
13 |
3,699,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Asb13
|
UTSW |
13 |
3,684,180 (GRCm39) |
splice site |
probably null |
|
|
R7771:Asb13
|
UTSW |
13 |
3,699,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Asb13
|
UTSW |
13 |
3,699,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Asb13
|
UTSW |
13 |
3,692,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8737:Asb13
|
UTSW |
13 |
3,692,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8966:Asb13
|
UTSW |
13 |
3,692,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACACTCTCCTTGGTGACAGAC -3'
(R):5'- ATGCTTCAGCACATACGCTCCC -3'
Sequencing Primer
(F):5'- TGGTGACAGACATTCTCTGC -3'
(R):5'- GGGACAGAAGTATTCCTAGTCCATC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation