Incidental Mutation 'IGL01559:Asb18'
ID |
90793 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Asb18
|
Ensembl Gene |
ENSMUSG00000067081 |
Gene Name |
ankyrin repeat and SOCS box-containing 18 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01559
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
89880313-89942388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89882172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 122
(S122F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086882]
[ENSMUST00000097656]
[ENSMUST00000151330]
[ENSMUST00000154228]
|
AlphaFold |
Q8VHA6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086882
AA Change: S386F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084095 Gene: ENSMUSG00000067081 AA Change: S386F
Domain | Start | End | E-Value | Type |
Blast:ANK
|
15 |
44 |
3e-8 |
BLAST |
ANK
|
119 |
148 |
5.32e-5 |
SMART |
ANK
|
151 |
180 |
1.99e-4 |
SMART |
ANK
|
184 |
213 |
3.26e2 |
SMART |
ANK
|
218 |
247 |
3.95e1 |
SMART |
ANK
|
251 |
289 |
1.96e3 |
SMART |
ANK
|
293 |
322 |
6.61e-1 |
SMART |
Blast:ANK
|
329 |
365 |
1e-12 |
BLAST |
SOCS_box
|
422 |
461 |
4.5e-13 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097656
AA Change: S122F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095261 Gene: ENSMUSG00000067081 AA Change: S122F
Domain | Start | End | E-Value | Type |
Blast:ANK
|
15 |
44 |
1e-8 |
BLAST |
SOCS_box
|
158 |
197 |
4.5e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151330
|
SMART Domains |
Protein: ENSMUSP00000117836 Gene: ENSMUSG00000067081
Domain | Start | End | E-Value | Type |
Blast:ANK
|
15 |
44 |
1e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154228
|
SMART Domains |
Protein: ENSMUSP00000117767 Gene: ENSMUSG00000067081
Domain | Start | End | E-Value | Type |
Blast:ANK
|
15 |
44 |
9e-9 |
BLAST |
ANK
|
78 |
107 |
5.32e-5 |
SMART |
ANK
|
110 |
139 |
1.99e-4 |
SMART |
|
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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a 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, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,259,020 (GRCm39) |
N2915K |
possibly damaging |
Het |
Abca5 |
T |
C |
11: 110,163,352 (GRCm39) |
N1621S |
probably benign |
Het |
Atg4c |
A |
G |
4: 99,106,440 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
T |
C |
3: 36,648,659 (GRCm39) |
Y363C |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,314,183 (GRCm39) |
T1281A |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,775,883 (GRCm39) |
N295S |
probably damaging |
Het |
Csn1s2b |
A |
T |
5: 87,968,810 (GRCm39) |
K80* |
probably null |
Het |
Dennd6a |
A |
G |
14: 26,329,720 (GRCm39) |
D97G |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,054,005 (GRCm39) |
Y2537C |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,001,235 (GRCm39) |
|
probably null |
Het |
Exoc4 |
A |
G |
6: 33,243,011 (GRCm39) |
T75A |
probably damaging |
Het |
Fbll1 |
T |
C |
11: 35,688,372 (GRCm39) |
E297G |
probably damaging |
Het |
Gm10642 |
T |
A |
9: 70,563,874 (GRCm39) |
D152V |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,076,725 (GRCm39) |
|
probably benign |
Het |
Kif17 |
A |
G |
4: 138,021,080 (GRCm39) |
I850V |
probably damaging |
Het |
Or2l13 |
T |
C |
16: 19,306,209 (GRCm39) |
L207P |
probably benign |
Het |
Pi4kb |
T |
A |
3: 94,891,440 (GRCm39) |
L52Q |
probably benign |
Het |
Sec14l1 |
C |
A |
11: 117,034,110 (GRCm39) |
|
probably null |
Het |
Slc28a2 |
T |
A |
2: 122,285,021 (GRCm39) |
H336Q |
probably damaging |
Het |
Usp17lb |
A |
G |
7: 104,490,436 (GRCm39) |
S164P |
probably damaging |
Het |
|
Other mutations in Asb18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01285:Asb18
|
APN |
1 |
89,923,963 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02188:Asb18
|
APN |
1 |
89,924,021 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02378:Asb18
|
APN |
1 |
89,920,710 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02543:Asb18
|
APN |
1 |
89,942,113 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02828:Asb18
|
APN |
1 |
89,923,932 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02877:Asb18
|
APN |
1 |
89,880,533 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03290:Asb18
|
APN |
1 |
89,942,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R0560:Asb18
|
UTSW |
1 |
89,942,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R0671:Asb18
|
UTSW |
1 |
89,920,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Asb18
|
UTSW |
1 |
89,924,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Asb18
|
UTSW |
1 |
89,924,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R1510:Asb18
|
UTSW |
1 |
89,923,976 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1721:Asb18
|
UTSW |
1 |
89,896,302 (GRCm39) |
missense |
probably benign |
0.36 |
R1793:Asb18
|
UTSW |
1 |
89,942,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R1863:Asb18
|
UTSW |
1 |
89,942,104 (GRCm39) |
missense |
probably benign |
0.10 |
R2171:Asb18
|
UTSW |
1 |
89,896,419 (GRCm39) |
missense |
probably benign |
0.01 |
R2348:Asb18
|
UTSW |
1 |
89,942,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R3052:Asb18
|
UTSW |
1 |
89,920,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R3053:Asb18
|
UTSW |
1 |
89,920,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R3427:Asb18
|
UTSW |
1 |
89,896,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R4094:Asb18
|
UTSW |
1 |
89,942,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4105:Asb18
|
UTSW |
1 |
89,896,243 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4405:Asb18
|
UTSW |
1 |
89,896,411 (GRCm39) |
missense |
probably benign |
0.00 |
R4815:Asb18
|
UTSW |
1 |
89,942,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4992:Asb18
|
UTSW |
1 |
89,880,585 (GRCm39) |
missense |
probably benign |
0.03 |
R5287:Asb18
|
UTSW |
1 |
89,942,110 (GRCm39) |
missense |
probably benign |
0.01 |
R5403:Asb18
|
UTSW |
1 |
89,942,110 (GRCm39) |
missense |
probably benign |
0.01 |
R5494:Asb18
|
UTSW |
1 |
89,882,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R5504:Asb18
|
UTSW |
1 |
89,920,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R5617:Asb18
|
UTSW |
1 |
89,882,184 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5826:Asb18
|
UTSW |
1 |
89,942,260 (GRCm39) |
missense |
probably damaging |
0.97 |
R6369:Asb18
|
UTSW |
1 |
89,942,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R7474:Asb18
|
UTSW |
1 |
89,920,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7751:Asb18
|
UTSW |
1 |
89,896,206 (GRCm39) |
missense |
probably benign |
0.09 |
R8707:Asb18
|
UTSW |
1 |
89,920,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R9212:Asb18
|
UTSW |
1 |
89,880,447 (GRCm39) |
missense |
probably benign |
0.00 |
R9253:Asb18
|
UTSW |
1 |
89,882,185 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2013-12-09 |