Incidental Mutation 'IGL01702:Asb2'
| ID |
104510 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb2
|
| Ensembl Gene |
ENSMUSG00000021200 |
| Gene Name |
ankyrin repeat and SOCS box-containing 2 |
| Synonyms |
1110008E15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL01702
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103287401-103322260 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103302164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 128
(G128E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021617]
[ENSMUST00000149431]
|
| AlphaFold |
Q8K0L0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021617
AA Change: G128E
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: G128E
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
26 |
45 |
1.02e0 |
SMART |
|
ANK
|
104 |
133 |
1.81e2 |
SMART |
|
ANK
|
137 |
167 |
5.45e-2 |
SMART |
|
ANK
|
171 |
200 |
5.45e-2 |
SMART |
|
ANK
|
204 |
233 |
2.21e-2 |
SMART |
|
ANK
|
237 |
266 |
9.13e-4 |
SMART |
|
ANK
|
270 |
299 |
7.42e-4 |
SMART |
|
ANK
|
303 |
332 |
1.19e-2 |
SMART |
|
ANK
|
336 |
365 |
5.67e0 |
SMART |
|
ANK
|
368 |
397 |
6.02e-4 |
SMART |
|
ANK
|
410 |
439 |
3.54e-1 |
SMART |
|
ANK
|
440 |
469 |
6.81e-3 |
SMART |
|
SOCS_box
|
592 |
631 |
2.51e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135694
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149431
AA Change: G80E
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: G80E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
34 |
N/A |
INTRINSIC |
|
ANK
|
56 |
85 |
1.81e2 |
SMART |
|
ANK
|
89 |
119 |
5.45e-2 |
SMART |
|
ANK
|
123 |
152 |
5.45e-2 |
SMART |
|
ANK
|
156 |
185 |
2.21e-2 |
SMART |
|
ANK
|
189 |
218 |
9.13e-4 |
SMART |
|
ANK
|
222 |
251 |
7.42e-4 |
SMART |
|
ANK
|
255 |
284 |
1.19e-2 |
SMART |
|
ANK
|
288 |
317 |
5.67e0 |
SMART |
|
ANK
|
320 |
349 |
6.02e-4 |
SMART |
|
ANK
|
362 |
391 |
3.54e-1 |
SMART |
|
ANK
|
392 |
421 |
6.81e-3 |
SMART |
|
SOCS_box
|
544 |
583 |
2.51e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160463
|
| Coding Region Coverage |
|
| 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 ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a conditional cells activated in the immune system exhibit impaired immature dendritic cell migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7a |
T |
C |
15: 77,273,886 (GRCm39) |
|
probably null |
Het |
| Atp11c |
A |
T |
X: 59,315,263 (GRCm39) |
S683T |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,627,735 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
A |
T |
19: 37,103,782 (GRCm39) |
M369K |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,253,072 (GRCm39) |
C580* |
probably null |
Het |
| Gm9956 |
A |
G |
10: 56,621,335 (GRCm39) |
|
|
Het |
| Gzmk |
C |
T |
13: 113,317,084 (GRCm39) |
V32I |
probably damaging |
Het |
| Hsf4 |
T |
C |
8: 105,998,221 (GRCm39) |
I129T |
probably damaging |
Het |
| Igkv1-115 |
T |
A |
6: 68,138,516 (GRCm39) |
W40R |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,500,312 (GRCm39) |
M314K |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,389,099 (GRCm39) |
T78A |
probably benign |
Het |
| Med28 |
T |
C |
5: 45,682,633 (GRCm39) |
S100P |
probably benign |
Het |
| Prx |
G |
A |
7: 27,219,212 (GRCm39) |
V1238I |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,353,727 (GRCm39) |
N2263S |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,826,384 (GRCm39) |
F61S |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,387,006 (GRCm39) |
F358S |
probably damaging |
Het |
| Slc25a3 |
A |
T |
10: 90,953,987 (GRCm39) |
Y242N |
probably damaging |
Het |
| Smtnl1 |
T |
C |
2: 84,649,034 (GRCm39) |
I73M |
possibly damaging |
Het |
| Tnp1 |
C |
A |
1: 73,054,877 (GRCm39) |
|
probably benign |
Het |
| Trim5 |
T |
C |
7: 103,928,638 (GRCm39) |
E101G |
probably damaging |
Het |
|
| Other mutations in Asb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01878:Asb2
|
APN |
12 |
103,287,922 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02103:Asb2
|
APN |
12 |
103,299,755 (GRCm39) |
nonsense |
probably null |
|
|
IGL02936:Asb2
|
APN |
12 |
103,302,173 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0178:Asb2
|
UTSW |
12 |
103,291,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Asb2
|
UTSW |
12 |
103,291,530 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0844:Asb2
|
UTSW |
12 |
103,291,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1309:Asb2
|
UTSW |
12 |
103,291,667 (GRCm39) |
missense |
probably benign |
|
|
R2931:Asb2
|
UTSW |
12 |
103,301,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4057:Asb2
|
UTSW |
12 |
103,291,653 (GRCm39) |
missense |
probably benign |
|
|
R4735:Asb2
|
UTSW |
12 |
103,291,317 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4754:Asb2
|
UTSW |
12 |
103,290,096 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5916:Asb2
|
UTSW |
12 |
103,290,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Asb2
|
UTSW |
12 |
103,287,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6349:Asb2
|
UTSW |
12 |
103,312,118 (GRCm39) |
start codon destroyed |
probably null |
0.07 |
|
R6605:Asb2
|
UTSW |
12 |
103,311,943 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7317:Asb2
|
UTSW |
12 |
103,299,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8720:Asb2
|
UTSW |
12 |
103,291,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Asb2
|
UTSW |
12 |
103,304,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8873:Asb2
|
UTSW |
12 |
103,299,725 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8878:Asb2
|
UTSW |
12 |
103,290,138 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9304:Asb2
|
UTSW |
12 |
103,302,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9333:Asb2
|
UTSW |
12 |
103,311,955 (GRCm39) |
nonsense |
probably null |
|
|
R9352:Asb2
|
UTSW |
12 |
103,296,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation