Incidental Mutation 'IGL01285:Asb18'
ID |
72709 |
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 # |
IGL01285
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
89880313-89942388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89923963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 100
(V100A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086882]
[ENSMUST00000097656]
[ENSMUST00000151330]
[ENSMUST00000154228]
|
AlphaFold |
Q8VHA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086882
AA Change: V100A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000084095 Gene: ENSMUSG00000067081 AA Change: V100A
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 benign
Transcript: ENSMUST00000097656
|
SMART Domains |
Protein: ENSMUSP00000095261 Gene: ENSMUSG00000067081
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,271,610 (GRCm39) |
N599S |
probably benign |
Het |
Adam6a |
A |
T |
12: 113,509,893 (GRCm39) |
*755Y |
probably null |
Het |
Adgrb3 |
G |
T |
1: 25,132,868 (GRCm39) |
T1166K |
probably benign |
Het |
Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,149,275 (GRCm39) |
V862A |
probably damaging |
Het |
Asap2 |
C |
T |
12: 21,279,264 (GRCm39) |
A382V |
probably damaging |
Het |
Bdnf |
G |
A |
2: 109,553,931 (GRCm39) |
A102T |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
Cfap47 |
A |
G |
X: 78,532,764 (GRCm39) |
I767T |
possibly damaging |
Het |
Des |
G |
A |
1: 75,339,227 (GRCm39) |
A251T |
probably benign |
Het |
Dmd |
C |
T |
X: 84,153,590 (GRCm39) |
Q3224* |
probably null |
Het |
Endog |
G |
T |
2: 30,061,975 (GRCm39) |
|
probably null |
Het |
Ggt7 |
A |
G |
2: 155,342,691 (GRCm39) |
V269A |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,686,739 (GRCm39) |
F808S |
probably damaging |
Het |
Hira |
A |
G |
16: 18,730,930 (GRCm39) |
T210A |
probably benign |
Het |
Ifitm5 |
C |
A |
7: 140,530,076 (GRCm39) |
R16L |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,031,273 (GRCm39) |
C404R |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
Irf9 |
A |
G |
14: 55,845,058 (GRCm39) |
E258G |
probably damaging |
Het |
Megf11 |
T |
C |
9: 64,567,728 (GRCm39) |
C406R |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,189,364 (GRCm39) |
N143S |
possibly damaging |
Het |
Or4m1 |
A |
G |
14: 50,557,713 (GRCm39) |
F193S |
possibly damaging |
Het |
Or6c66b |
T |
A |
10: 129,376,711 (GRCm39) |
F102I |
probably benign |
Het |
Or7g30 |
A |
G |
9: 19,352,266 (GRCm39) |
D19G |
probably benign |
Het |
Otof |
G |
T |
5: 30,562,527 (GRCm39) |
Q254K |
probably damaging |
Het |
Pate7 |
A |
T |
9: 35,688,044 (GRCm39) |
N65K |
possibly damaging |
Het |
Plcd3 |
A |
G |
11: 102,968,696 (GRCm39) |
F332L |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,635,230 (GRCm39) |
D1332G |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,634,130 (GRCm39) |
D521V |
probably benign |
Het |
Sema5a |
T |
A |
15: 32,575,143 (GRCm39) |
V417D |
possibly damaging |
Het |
Senp6 |
G |
A |
9: 80,044,000 (GRCm39) |
R877Q |
probably benign |
Het |
Shroom2 |
A |
T |
X: 151,442,353 (GRCm39) |
D937E |
probably damaging |
Het |
Slc35a3 |
A |
G |
3: 116,488,262 (GRCm39) |
S142P |
probably damaging |
Het |
Srpx |
A |
T |
X: 9,905,298 (GRCm39) |
V398E |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,560,653 (GRCm39) |
K669N |
possibly damaging |
Het |
Sumf2 |
A |
G |
5: 129,878,811 (GRCm39) |
D49G |
probably damaging |
Het |
Syde1 |
T |
A |
10: 78,424,721 (GRCm39) |
E370D |
probably damaging |
Het |
Tas2r115 |
G |
T |
6: 132,714,641 (GRCm39) |
S103R |
probably damaging |
Het |
Top2a |
G |
A |
11: 98,896,985 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,550,842 (GRCm39) |
T23190S |
probably damaging |
Het |
Ttyh3 |
C |
A |
5: 140,615,167 (GRCm39) |
C407F |
probably damaging |
Het |
Vmn2r27 |
G |
T |
6: 124,169,370 (GRCm39) |
H587N |
possibly damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,606,692 (GRCm39) |
I218T |
possibly damaging |
Het |
Vsig10 |
A |
G |
5: 117,462,954 (GRCm39) |
N60S |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,956,979 (GRCm39) |
S877P |
probably damaging |
Het |
Zfp979 |
G |
T |
4: 147,699,853 (GRCm39) |
T29N |
probably damaging |
Het |
Znfx1 |
G |
A |
2: 166,880,615 (GRCm39) |
R390C |
possibly damaging |
Het |
|
Other mutations in Asb18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01559:Asb18
|
APN |
1 |
89,882,172 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |