Incidental Mutation 'R9304:Asb2'
| ID |
705129 |
| 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: 0.095)
|
| Stock # |
R9304 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103287401-103322260 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103302225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 108
(P108S)
|
| 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: P108S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: P108S
| 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 |
probably damaging
Transcript: ENSMUST00000149431
AA Change: P60S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: P60S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
A |
G |
3: 36,536,072 (GRCm39) |
K113E |
unknown |
Het |
| 4930486L24Rik |
T |
C |
13: 61,001,352 (GRCm39) |
Y125C |
probably damaging |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
T |
14: 68,874,946 (GRCm39) |
Y244N |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,113,019 (GRCm39) |
D944G |
unknown |
Het |
| Cachd1 |
A |
G |
4: 100,824,179 (GRCm39) |
Y540C |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,597 (GRCm39) |
Q63R |
probably benign |
Het |
| Cdhr5 |
G |
A |
7: 140,851,474 (GRCm39) |
P610L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,829,464 (GRCm39) |
K87E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,569,805 (GRCm39) |
D1206G |
|
Het |
| Diaph3 |
T |
C |
14: 87,328,448 (GRCm39) |
E98G |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,700,855 (GRCm39) |
E1185V |
unknown |
Het |
| Enpp2 |
C |
T |
15: 54,815,969 (GRCm39) |
R65H |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,819 (GRCm39) |
V195A |
probably benign |
Het |
| Gm14412 |
T |
C |
2: 177,007,547 (GRCm39) |
D116G |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,126,560 (GRCm39) |
D273E |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,793,593 (GRCm39) |
K85* |
probably null |
Het |
| Htra3 |
A |
G |
5: 35,836,515 (GRCm39) |
V59A |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,055,400 (GRCm39) |
Y244* |
probably null |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,510,893 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,980,974 (GRCm39) |
D316G |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,028,516 (GRCm39) |
S116P |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,880 (GRCm39) |
D19E |
probably benign |
Het |
| Prob1 |
C |
A |
18: 35,787,708 (GRCm39) |
G182V |
probably damaging |
Het |
| Psmb9 |
A |
G |
17: 34,406,222 (GRCm39) |
|
probably null |
Het |
| Pudp |
T |
A |
18: 50,701,670 (GRCm39) |
D21V |
probably damaging |
Het |
| Rhobtb2 |
G |
A |
14: 70,025,376 (GRCm39) |
H633Y |
probably damaging |
Het |
| Rpf2 |
A |
G |
10: 40,119,850 (GRCm39) |
|
probably null |
Het |
| Sbk2 |
A |
G |
7: 4,960,507 (GRCm39) |
I221T |
probably damaging |
Het |
| Slc10a1 |
G |
A |
12: 81,004,957 (GRCm39) |
T195I |
probably benign |
Het |
| Spata31h1 |
G |
T |
10: 82,131,930 (GRCm39) |
P360Q |
probably benign |
Het |
| Speer1k |
G |
A |
5: 10,998,949 (GRCm39) |
R29Q |
|
Het |
| Stom |
A |
G |
2: 35,211,697 (GRCm39) |
V108A |
possibly damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trdn |
G |
T |
10: 33,181,087 (GRCm39) |
|
probably null |
Het |
| Trmt61a |
T |
A |
12: 111,647,437 (GRCm39) |
V178D |
possibly damaging |
Het |
| Trpv4 |
C |
A |
5: 114,782,702 (GRCm39) |
E87* |
probably null |
Het |
| Ttc6 |
T |
C |
12: 57,776,117 (GRCm39) |
F1687S |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,247 (GRCm39) |
F985L |
probably benign |
Het |
| Vdac3 |
T |
A |
8: 23,070,568 (GRCm39) |
K114N |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,279 (GRCm39) |
S60P |
possibly damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,665,570 (GRCm39) |
S182T |
possibly 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 |
|
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 |
|
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'- CAGAGATGGTCCTCACCTTG -3'
(R):5'- AGCTTCAGCCACAGAAAGTCTC -3'
Sequencing Primer
(F):5'- ACCTTGCTGCAGGACTTTCAG -3'
(R):5'- ATTTGCTTGCATCCAGTGAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation