Incidental Mutation 'IGL03290:Asb18'
| ID |
415884 |
| 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 # |
IGL03290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
89880313-89942388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89942296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086882]
[ENSMUST00000097656]
[ENSMUST00000151330]
[ENSMUST00000154228]
|
| AlphaFold |
Q8VHA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086882
AA Change: S2P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: S2P
| 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 |
unknown
Transcript: ENSMUST00000097656
AA Change: S2P
|
| SMART Domains |
Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
1e-8 |
BLAST |
|
SOCS_box
|
158 |
197 |
4.5e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151330
AA Change: S2P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154228
AA Change: S2P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081
AA Change: S2P
| 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 |
|---|
| Acsm4 |
A |
G |
7: 119,302,646 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,770,715 (GRCm39) |
F398S |
probably damaging |
Het |
| BC034090 |
T |
G |
1: 155,101,856 (GRCm39) |
D136A |
probably damaging |
Het |
| Ces5a |
A |
C |
8: 94,246,260 (GRCm39) |
F310V |
probably damaging |
Het |
| Chsy1 |
T |
C |
7: 65,820,779 (GRCm39) |
V338A |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,944 (GRCm39) |
E385G |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,591,543 (GRCm39) |
|
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,097 (GRCm39) |
S262P |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,045 (GRCm39) |
N3984D |
probably benign |
Het |
| Fbxo38 |
A |
T |
18: 62,659,234 (GRCm39) |
H354Q |
probably benign |
Het |
| Fgf6 |
T |
A |
6: 127,001,095 (GRCm39) |
V201D |
probably damaging |
Het |
| Gm16181 |
A |
T |
17: 35,442,933 (GRCm39) |
|
probably benign |
Het |
| Gm6811 |
T |
C |
17: 21,314,311 (GRCm39) |
|
noncoding transcript |
Het |
| Gna11 |
A |
G |
10: 81,366,771 (GRCm39) |
F313S |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,491,968 (GRCm39) |
A523T |
probably damaging |
Het |
| Il22 |
T |
C |
10: 118,041,785 (GRCm39) |
|
probably null |
Het |
| Insr |
T |
C |
8: 3,308,574 (GRCm39) |
Y154C |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,449,780 (GRCm39) |
D86E |
probably benign |
Het |
| Itk |
C |
A |
11: 46,225,764 (GRCm39) |
W529L |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,765,887 (GRCm39) |
A572S |
probably benign |
Het |
| Ldhc |
C |
T |
7: 46,519,112 (GRCm39) |
R112C |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,779,685 (GRCm39) |
|
probably benign |
Het |
| Mdh2 |
A |
G |
5: 135,818,567 (GRCm39) |
E274G |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,575,161 (GRCm39) |
D711E |
probably benign |
Het |
| Ngly1 |
T |
A |
14: 16,281,866 (GRCm38) |
I248K |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,149 (GRCm39) |
N309S |
probably damaging |
Het |
| Or7e176 |
T |
C |
9: 20,171,556 (GRCm39) |
I140T |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,829,241 (GRCm39) |
E1421G |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,822,518 (GRCm39) |
R112H |
possibly damaging |
Het |
| Pgrmc2 |
T |
C |
3: 41,023,061 (GRCm39) |
|
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Pogz |
A |
T |
3: 94,782,402 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,771 (GRCm39) |
Y159H |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,231 (GRCm39) |
K135E |
probably damaging |
Het |
| Rbm7 |
T |
A |
9: 48,401,267 (GRCm39) |
M154L |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,264 (GRCm39) |
S283P |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,179,273 (GRCm39) |
S30P |
probably benign |
Het |
| Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,848,508 (GRCm39) |
W22R |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,412,955 (GRCm39) |
R43W |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,251,022 (GRCm39) |
V54A |
probably benign |
Het |
| Snap47 |
A |
G |
11: 59,319,424 (GRCm39) |
I238T |
probably damaging |
Het |
| Tecpr2 |
T |
G |
12: 110,934,267 (GRCm39) |
I1309S |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,953,992 (GRCm39) |
L1310P |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,915,408 (GRCm39) |
H118Q |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,244 (GRCm39) |
T731I |
probably damaging |
Het |
| Zfp287 |
A |
G |
11: 62,606,062 (GRCm39) |
F282L |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation