Incidental Mutation 'IGL01748:Asb1'
| ID |
153067 |
| 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 # |
IGL01748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
91468266-91487311 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91480008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 236
(V236I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027538]
[ENSMUST00000086843]
[ENSMUST00000186068]
[ENSMUST00000188081]
[ENSMUST00000188879]
[ENSMUST00000190484]
|
| AlphaFold |
Q9WV74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027538
AA Change: V4I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311
AA Change: V4I
| 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 damaging
Transcript: ENSMUST00000086843
AA Change: V244I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: V244I
| 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: 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 damaging
Transcript: ENSMUST00000188081
AA Change: V236I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311
AA Change: V236I
| 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 damaging
Transcript: ENSMUST00000188879
AA Change: V236I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: V236I
| 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 damaging
Transcript: ENSMUST00000190484
AA Change: V143I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311
AA Change: V143I
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,420,206 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,974,304 (GRCm39) |
R2337C |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,980,834 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
T |
C |
15: 77,836,546 (GRCm39) |
D323G |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,116 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
T |
A |
5: 25,452,513 (GRCm39) |
Y8* |
probably null |
Het |
| Gm42688 |
T |
A |
6: 83,080,001 (GRCm39) |
S275T |
possibly damaging |
Het |
| Grip2 |
C |
T |
6: 91,741,724 (GRCm39) |
G934R |
probably damaging |
Het |
| Igkv1-122 |
G |
T |
6: 67,994,456 (GRCm39) |
V115F |
possibly damaging |
Het |
| Iglon5 |
C |
T |
7: 43,125,953 (GRCm39) |
|
probably benign |
Het |
| Nbl1 |
G |
T |
4: 138,810,921 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,875 (GRCm39) |
L130P |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,476 (GRCm39) |
N61D |
probably benign |
Het |
| Rfng |
A |
G |
11: 120,674,569 (GRCm39) |
M104T |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,150 (GRCm39) |
F1224S |
probably damaging |
Het |
| Strn4 |
C |
T |
7: 16,572,227 (GRCm39) |
P647S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,616,306 (GRCm39) |
V474A |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,470 (GRCm39) |
T80S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,770,150 (GRCm39) |
E2757G |
probably damaging |
Het |
| Vmn1r43 |
G |
T |
6: 89,847,294 (GRCm39) |
T64N |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,476 (GRCm39) |
I576N |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,507 (GRCm39) |
I803N |
probably damaging |
Het |
| Zfp341 |
T |
C |
2: 154,470,847 (GRCm39) |
V288A |
probably damaging |
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 |
|
IGL02670:Asb1
|
APN |
1 |
91,474,640 (GRCm39) |
intron |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation