Incidental Mutation 'R4057:Asb2'
| ID |
314298 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4057 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103287401-103322260 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103291653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 377
(Y377H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021617]
[ENSMUST00000149431]
|
| AlphaFold |
Q8K0L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021617
AA Change: Y425H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: Y425H
| 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 |
probably benign
Transcript: ENSMUST00000149431
AA Change: Y377H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: Y377H
| 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 |
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
95% (36/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Cars1 |
T |
C |
7: 143,124,385 (GRCm39) |
E347G |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,509 (GRCm39) |
M1686K |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,225,135 (GRCm39) |
|
probably benign |
Het |
| Emcn |
C |
A |
3: 137,085,660 (GRCm39) |
T86K |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,290,250 (GRCm39) |
Y2361C |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Ltbp1 |
G |
T |
17: 75,617,189 (GRCm39) |
G725C |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,270,971 (GRCm39) |
M144K |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,096,711 (GRCm39) |
V5000D |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,127,120 (GRCm39) |
A3534E |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,270,071 (GRCm39) |
C833S |
probably benign |
Het |
| Npas1 |
C |
A |
7: 16,208,712 (GRCm39) |
R55L |
probably damaging |
Het |
| Or52n20 |
A |
G |
7: 104,320,476 (GRCm39) |
K189R |
probably damaging |
Het |
| P2ry10 |
T |
C |
X: 106,146,862 (GRCm39) |
C266R |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,331,950 (GRCm39) |
E351G |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,748,563 (GRCm39) |
R1751W |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,150 (GRCm39) |
|
probably null |
Het |
| Por |
A |
G |
5: 135,760,428 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ptprm |
A |
C |
17: 67,382,658 (GRCm39) |
I158S |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Serpina3m |
A |
C |
12: 104,357,996 (GRCm39) |
|
probably benign |
Het |
| Sox5 |
G |
T |
6: 144,062,248 (GRCm39) |
R135S |
probably damaging |
Het |
| Stag2 |
A |
G |
X: 41,313,819 (GRCm39) |
T228A |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
|
| Other mutations in Asb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01702:Asb2
|
APN |
12 |
103,302,164 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAAACATGATGGTGGC -3'
(R):5'- CTTACAGAATAGTGCAGATGCTG -3'
Sequencing Primer
(F):5'- CATGATGGTGGCTGGAAAGGC -3'
(R):5'- AGATGCTGCTGCCTGTGAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation