Incidental Mutation 'R0844:Asb2'
| ID |
77301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb2
|
| Ensembl Gene |
ENSMUSG00000021200 |
| Gene Name |
ankyrin repeat and SOCS box-containing 2 |
| Synonyms |
1110008E15Rik |
| MMRRC Submission |
039023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0844 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103287401-103322260 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103291805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 374
(H374R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021617]
[ENSMUST00000149431]
|
| AlphaFold |
Q8K0L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021617
AA Change: H374R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: H374R
| 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 damaging
Transcript: ENSMUST00000149431
AA Change: H326R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: H326R
| 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 |
0.9735 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
100% (27/27) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
T |
C |
12: 55,126,858 (GRCm39) |
D2G |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,210,658 (GRCm39) |
T174A |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,622,532 (GRCm39) |
I511T |
probably damaging |
Het |
| Cnmd |
G |
A |
14: 79,879,391 (GRCm39) |
T249I |
probably benign |
Het |
| Cyp4a12b |
T |
G |
4: 115,289,721 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,440,395 (GRCm39) |
Y1016H |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,388,279 (GRCm39) |
|
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,530,457 (GRCm39) |
L325P |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,911,353 (GRCm39) |
L393P |
probably damaging |
Het |
| Fdx1 |
G |
T |
9: 51,859,909 (GRCm39) |
D33E |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,395,359 (GRCm39) |
C264R |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 48,977,211 (GRCm39) |
M907K |
possibly damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Klrh1 |
C |
G |
6: 129,752,756 (GRCm39) |
K16N |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,339,431 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,743,119 (GRCm39) |
S60L |
probably benign |
Het |
| Naxe |
A |
T |
3: 87,965,715 (GRCm39) |
V28E |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,252 (GRCm39) |
S1654P |
possibly damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,912,101 (GRCm39) |
T324A |
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tbc1d12 |
G |
T |
19: 38,825,515 (GRCm39) |
R122L |
probably benign |
Het |
| Tmx4 |
A |
G |
2: 134,441,928 (GRCm39) |
|
probably null |
Het |
| Trnt1 |
A |
G |
6: 106,751,464 (GRCm39) |
D147G |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,677,428 (GRCm39) |
V463E |
probably damaging |
Het |
| Wdr82 |
G |
A |
9: 106,065,780 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCGTACACATTGTTGTTGACCAC -3'
(R):5'- TCCATGCGAGATGCTTGAAACCAC -3'
Sequencing Primer
(F):5'- ATTGTTGTTGACCACAGCGAAG -3'
(R):5'- GAGGTTTTTCAGAACTCACCAGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation