Incidental Mutation 'IGL02670:Asb1'
ID |
302906 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Asb1
|
Ensembl Gene |
ENSMUSG00000026311 |
Gene Name |
ankyrin repeat and SOCS box-containing 1 |
Synonyms |
1700029O08Rik, 1700054C17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
IGL02670
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
91468266-91487311 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 91474640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027538]
[ENSMUST00000086843]
[ENSMUST00000186068]
[ENSMUST00000188081]
[ENSMUST00000188879]
[ENSMUST00000190484]
|
AlphaFold |
Q9WV74 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027538
|
SMART Domains |
Protein: ENSMUSP00000027538 Gene: ENSMUSG00000026311
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
ANK
|
37 |
69 |
2.43e1 |
SMART |
ANK
|
78 |
107 |
7.48e0 |
SMART |
ANK
|
111 |
140 |
3.01e-4 |
SMART |
ANK
|
144 |
173 |
9.78e-4 |
SMART |
ANK
|
196 |
221 |
2.25e2 |
SMART |
Blast:ANK
|
235 |
266 |
2e-11 |
BLAST |
SOCS_box
|
297 |
336 |
6.36e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086843
|
SMART Domains |
Protein: ENSMUSP00000084054 Gene: ENSMUSG00000026311
Domain | Start | End | E-Value | Type |
ANK
|
29 |
61 |
2.43e1 |
SMART |
ANK
|
70 |
99 |
7.48e0 |
SMART |
ANK
|
103 |
132 |
3.01e-4 |
SMART |
ANK
|
136 |
165 |
9.78e-4 |
SMART |
ANK
|
188 |
213 |
2.25e2 |
SMART |
Blast:ANK
|
227 |
258 |
2e-11 |
BLAST |
SOCS_box
|
289 |
328 |
6.36e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185718
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186068
|
SMART Domains |
Protein: ENSMUSP00000140225 Gene: ENSMUSG00000026311
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
Blast:ANK
|
37 |
70 |
1e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188081
|
SMART Domains |
Protein: ENSMUSP00000140165 Gene: ENSMUSG00000026311
Domain | Start | End | E-Value | Type |
ANK
|
29 |
61 |
1.5e-1 |
SMART |
ANK
|
70 |
99 |
4.7e-2 |
SMART |
ANK
|
103 |
132 |
1.9e-6 |
SMART |
ANK
|
136 |
165 |
6.3e-6 |
SMART |
ANK
|
188 |
213 |
1.4e0 |
SMART |
Blast:ANK
|
227 |
258 |
1e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188879
|
SMART Domains |
Protein: ENSMUSP00000140731 Gene: ENSMUSG00000026311
Domain | Start | End | E-Value | Type |
ANK
|
29 |
61 |
2.43e1 |
SMART |
ANK
|
70 |
99 |
7.48e0 |
SMART |
ANK
|
103 |
132 |
3.01e-4 |
SMART |
ANK
|
136 |
165 |
9.78e-4 |
SMART |
ANK
|
188 |
213 |
2.25e2 |
SMART |
Blast:ANK
|
227 |
258 |
2e-11 |
BLAST |
SOCS_box
|
289 |
328 |
6.36e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190484
|
SMART Domains |
Protein: ENSMUSP00000140281 Gene: ENSMUSG00000026311
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
ANK
|
37 |
72 |
1.17e2 |
SMART |
ANK
|
95 |
120 |
2.25e2 |
SMART |
Blast:ANK
|
134 |
165 |
3e-12 |
BLAST |
Pfam:SOCS_box
|
196 |
218 |
2.2e-6 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016] PHENOTYPE: Homozygous mutation of this gene results in spleen hypocellularity, decreased spermatogenesis, and thickening of the skin in male animals. [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 |
Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
Het |
|
Other mutations in Asb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01525:Asb1
|
APN |
1 |
91,479,846 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01748:Asb1
|
APN |
1 |
91,480,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Asb1
|
UTSW |
1 |
91,474,647 (GRCm39) |
splice site |
probably null |
|
R2113:Asb1
|
UTSW |
1 |
91,471,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Asb1
|
UTSW |
1 |
91,480,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Asb1
|
UTSW |
1 |
91,482,533 (GRCm39) |
missense |
probably benign |
0.00 |
R5103:Asb1
|
UTSW |
1 |
91,480,066 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5301:Asb1
|
UTSW |
1 |
91,482,475 (GRCm39) |
missense |
probably damaging |
0.97 |
R6039:Asb1
|
UTSW |
1 |
91,474,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Asb1
|
UTSW |
1 |
91,474,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R8552:Asb1
|
UTSW |
1 |
91,480,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R9009:Asb1
|
UTSW |
1 |
91,480,206 (GRCm39) |
makesense |
probably null |
|
R9009:Asb1
|
UTSW |
1 |
91,480,205 (GRCm39) |
missense |
unknown |
|
R9013:Asb1
|
UTSW |
1 |
91,480,163 (GRCm39) |
critical splice donor site |
probably null |
|
R9213:Asb1
|
UTSW |
1 |
91,482,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Asb1
|
UTSW |
1 |
91,468,551 (GRCm39) |
missense |
unknown |
|
R9286:Asb1
|
UTSW |
1 |
91,480,150 (GRCm39) |
missense |
probably benign |
0.00 |
R9643:Asb1
|
UTSW |
1 |
91,480,116 (GRCm39) |
missense |
probably benign |
|
R9689:Asb1
|
UTSW |
1 |
91,474,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |