Incidental Mutation 'R6605:Asb2'
ID |
525625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asb2
|
Ensembl Gene |
ENSMUSG00000021200 |
Gene Name |
ankyrin repeat and SOCS box-containing 2 |
Synonyms |
1110008E15Rik |
MMRRC Submission |
044728-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R6605 (G1)
|
Quality Score |
144.008 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
103287401-103322260 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 103311943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 60
(Q60K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021617]
|
AlphaFold |
Q8K0L0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021617
AA Change: Q60K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000021617 Gene: ENSMUSG00000021200 AA Change: Q60K
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: ENSMUST00000160463
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
92% (35/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
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 |
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 |
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'- TATGTGAAAGACTTGGGCCACAG -3'
(R):5'- ATGGCGACTGAGATCTCCAC -3'
Sequencing Primer
(F):5'- GGATCCCATCCCACTGTGAC -3'
(R):5'- ACTGAGATCTCCACTCGGG -3'
|
Posted On |
2018-06-22 |