Incidental Mutation 'R5826:Asb18'
| ID |
450154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb18
|
| Ensembl Gene |
ENSMUSG00000067081 |
| Gene Name |
ankyrin repeat and SOCS box-containing 18 |
| Synonyms |
|
| MMRRC Submission |
043217-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5826 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89880313-89942388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89942260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 14
(S14A)
|
| 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: S14A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: S14A
| 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: S14A
|
| SMART Domains |
Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081
AA Change: S14A
| 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
AA Change: S14A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081
AA Change: S14A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154228
AA Change: S14A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081
AA Change: S14A
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,632,056 (GRCm39) |
H4992R |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,788,189 (GRCm39) |
D877V |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,618,724 (GRCm39) |
Y147* |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,342,375 (GRCm39) |
I30M |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,675,242 (GRCm39) |
L1293* |
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,412,992 (GRCm39) |
|
probably null |
Het |
| Cst9 |
G |
A |
2: 148,680,393 (GRCm39) |
V120I |
possibly damaging |
Het |
| Ddah2 |
A |
G |
17: 35,279,664 (GRCm39) |
D128G |
probably damaging |
Het |
| Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,925,193 (GRCm39) |
L3880Q |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,389,623 (GRCm39) |
T508A |
possibly damaging |
Het |
| Ephb2 |
T |
A |
4: 136,388,048 (GRCm39) |
H685L |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,752,449 (GRCm39) |
Y387C |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,126,859 (GRCm39) |
S205P |
possibly damaging |
Het |
| Has2 |
T |
A |
15: 56,531,498 (GRCm39) |
I406F |
probably damaging |
Het |
| Hcrtr2 |
A |
C |
9: 76,230,569 (GRCm39) |
V73G |
probably benign |
Het |
| Hsd17b4 |
A |
T |
18: 50,316,239 (GRCm39) |
Q622L |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,022 (GRCm39) |
M607K |
probably benign |
Het |
| Nol6 |
T |
A |
4: 41,122,158 (GRCm39) |
D184V |
probably benign |
Het |
| Noxa1 |
T |
A |
2: 24,976,253 (GRCm39) |
Q345L |
probably damaging |
Het |
| Nudt6 |
T |
C |
3: 37,473,617 (GRCm39) |
T35A |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,284,288 (GRCm39) |
R838I |
possibly damaging |
Het |
| Plcg2 |
T |
C |
8: 118,337,583 (GRCm39) |
V985A |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,635,335 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,551,962 (GRCm39) |
R2056H |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,612,246 (GRCm39) |
I49N |
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,723,898 (GRCm39) |
S1543R |
probably damaging |
Het |
| Rnf135 |
A |
T |
11: 80,089,912 (GRCm39) |
N416I |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,350,399 (GRCm39) |
L825P |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,287,309 (GRCm39) |
N8I |
possibly damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,876 (GRCm39) |
I456V |
probably benign |
Het |
| Slc16a3 |
A |
G |
11: 120,847,756 (GRCm39) |
T315A |
probably benign |
Het |
| Sun1 |
T |
G |
5: 139,231,171 (GRCm39) |
F657C |
probably damaging |
Het |
| Tmco3 |
T |
C |
8: 13,360,314 (GRCm39) |
S34P |
probably damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,502 (GRCm39) |
P778L |
unknown |
Het |
| Ubxn4 |
A |
C |
1: 128,194,058 (GRCm39) |
K284T |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,509,785 (GRCm39) |
N461K |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,133 (GRCm39) |
F259L |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAGCATGCATTAGTAATTGG -3'
(R):5'- CAAGGTGAAAGCAGCGTGTC -3'
Sequencing Primer
(F):5'- GGCCTCCTGTGGTTACCTAG -3'
(R):5'- TGAAAGCAGCGTGTCCCTCC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation