Incidental Mutation 'IGL01989:Asb15'
| ID |
182810 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb15
|
| Ensembl Gene |
ENSMUSG00000029685 |
| Gene Name |
ankyrin repeat and SOCS box-containing 15 |
| Synonyms |
4930400E23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24565943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 299
(T299A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031696]
[ENSMUST00000117688]
|
| AlphaFold |
Q8VHS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031696
AA Change: T299A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: T299A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
110 |
139 |
1.59e-3 |
SMART |
|
ANK
|
143 |
172 |
2.97e-3 |
SMART |
|
ANK
|
176 |
205 |
1.93e-2 |
SMART |
|
ANK
|
209 |
238 |
2.1e-3 |
SMART |
|
ANK
|
242 |
273 |
5.01e-1 |
SMART |
|
ANK
|
275 |
304 |
2.63e2 |
SMART |
|
ANK
|
307 |
336 |
1.99e-4 |
SMART |
|
ANK
|
349 |
378 |
5.24e-4 |
SMART |
|
ANK
|
379 |
408 |
1.27e-2 |
SMART |
|
ANK
|
417 |
444 |
2.35e3 |
SMART |
|
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117688
AA Change: T299A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: T299A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
110 |
139 |
1.59e-3 |
SMART |
|
ANK
|
143 |
172 |
2.97e-3 |
SMART |
|
ANK
|
176 |
205 |
1.93e-2 |
SMART |
|
ANK
|
209 |
238 |
2.1e-3 |
SMART |
|
ANK
|
242 |
273 |
5.01e-1 |
SMART |
|
ANK
|
275 |
304 |
2.63e2 |
SMART |
|
ANK
|
307 |
336 |
1.99e-4 |
SMART |
|
ANK
|
349 |
378 |
5.24e-4 |
SMART |
|
ANK
|
379 |
408 |
1.27e-2 |
SMART |
|
ANK
|
417 |
444 |
2.35e3 |
SMART |
|
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,266 (GRCm39) |
V8D |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,602,462 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
G |
A |
1: 173,165,578 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
G |
A |
9: 45,704,313 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
C |
A |
8: 105,576,375 (GRCm39) |
N129K |
probably damaging |
Het |
| Chdh |
C |
A |
14: 29,753,688 (GRCm39) |
P199Q |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,694 (GRCm39) |
V3142A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
| Dock2 |
G |
T |
11: 34,218,053 (GRCm39) |
N1172K |
probably benign |
Het |
| Dppa5a |
T |
A |
9: 78,275,103 (GRCm39) |
E66D |
probably benign |
Het |
| F5 |
A |
G |
1: 164,003,876 (GRCm39) |
S224G |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,794 (GRCm39) |
T159A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,211 (GRCm39) |
D6648V |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,317,201 (GRCm39) |
E519V |
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,546 (GRCm39) |
L462P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,879,951 (GRCm39) |
L1286S |
probably damaging |
Het |
| Hnrnpll |
A |
G |
17: 80,346,169 (GRCm39) |
V364A |
probably benign |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,992 (GRCm39) |
T282A |
probably damaging |
Het |
| Il12a |
T |
A |
3: 68,598,909 (GRCm39) |
|
probably benign |
Het |
| Insl5 |
C |
A |
4: 102,883,838 (GRCm39) |
V28L |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,113 (GRCm39) |
D398G |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,413,998 (GRCm39) |
D1137N |
probably damaging |
Het |
| Mettl18 |
C |
A |
1: 163,823,872 (GRCm39) |
D64E |
probably benign |
Het |
| Mrpl3 |
A |
G |
9: 104,948,678 (GRCm39) |
T245A |
probably benign |
Het |
| Mrps18c |
C |
A |
5: 100,949,775 (GRCm39) |
P52Q |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,977,481 (GRCm39) |
D377V |
probably damaging |
Het |
| N4bp1 |
C |
A |
8: 87,575,115 (GRCm39) |
V727L |
probably damaging |
Het |
| Npffr2 |
A |
G |
5: 89,730,831 (GRCm39) |
T254A |
probably benign |
Het |
| Nsfl1c |
C |
A |
2: 151,342,649 (GRCm39) |
T73K |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,132 (GRCm39) |
V148I |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,306,396 (GRCm39) |
W1442* |
probably null |
Het |
| Serpina3n |
T |
A |
12: 104,379,750 (GRCm39) |
M381K |
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,648,814 (GRCm39) |
N147D |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,344,511 (GRCm39) |
E832G |
possibly damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,702,076 (GRCm39) |
D207G |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,281,055 (GRCm39) |
M16K |
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,719 (GRCm39) |
E53G |
probably damaging |
Het |
| Tmem86a |
A |
T |
7: 46,703,187 (GRCm39) |
I105F |
probably benign |
Het |
| Tph2 |
A |
G |
10: 114,981,921 (GRCm39) |
S304P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,883 (GRCm39) |
D17711G |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,474 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,837,478 (GRCm39) |
I1729L |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,494 (GRCm39) |
Y351* |
probably null |
Het |
| Wfdc5 |
C |
T |
2: 164,020,651 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
G |
A |
11: 103,703,233 (GRCm39) |
D239N |
probably benign |
Het |
| Zbtb8b |
T |
A |
4: 129,326,181 (GRCm39) |
E295V |
probably damaging |
Het |
| Zfp458 |
T |
C |
13: 67,407,691 (GRCm39) |
T52A |
probably damaging |
Het |
|
| Other mutations in Asb15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Asb15
|
APN |
6 |
24,558,642 (GRCm39) |
splice site |
probably benign |
|
|
IGL00557:Asb15
|
APN |
6 |
24,558,649 (GRCm39) |
missense |
probably benign |
|
|
IGL00694:Asb15
|
APN |
6 |
24,570,663 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01137:Asb15
|
APN |
6 |
24,556,521 (GRCm39) |
missense |
probably benign |
|
|
IGL01681:Asb15
|
APN |
6 |
24,567,137 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01691:Asb15
|
APN |
6 |
24,567,271 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01791:Asb15
|
APN |
6 |
24,567,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02480:Asb15
|
APN |
6 |
24,570,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02541:Asb15
|
APN |
6 |
24,566,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02707:Asb15
|
APN |
6 |
24,558,787 (GRCm39) |
splice site |
probably benign |
|
|
IGL03090:Asb15
|
APN |
6 |
24,567,185 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03331:Asb15
|
APN |
6 |
24,556,523 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
3-1:Asb15
|
UTSW |
6 |
24,566,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB002:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB012:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0196:Asb15
|
UTSW |
6 |
24,564,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0603:Asb15
|
UTSW |
6 |
24,556,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Asb15
|
UTSW |
6 |
24,566,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Asb15
|
UTSW |
6 |
24,567,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Asb15
|
UTSW |
6 |
24,562,486 (GRCm39) |
splice site |
probably benign |
|
|
R1365:Asb15
|
UTSW |
6 |
24,567,269 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2323:Asb15
|
UTSW |
6 |
24,556,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3147:Asb15
|
UTSW |
6 |
24,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Asb15
|
UTSW |
6 |
24,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Asb15
|
UTSW |
6 |
24,567,236 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4771:Asb15
|
UTSW |
6 |
24,570,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4915:Asb15
|
UTSW |
6 |
24,566,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5369:Asb15
|
UTSW |
6 |
24,562,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5415:Asb15
|
UTSW |
6 |
24,570,690 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5781:Asb15
|
UTSW |
6 |
24,564,377 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6649:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
|
R6653:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
|
R6781:Asb15
|
UTSW |
6 |
24,558,674 (GRCm39) |
missense |
probably benign |
|
|
R6984:Asb15
|
UTSW |
6 |
24,566,336 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7297:Asb15
|
UTSW |
6 |
24,566,462 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7340:Asb15
|
UTSW |
6 |
24,558,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7419:Asb15
|
UTSW |
6 |
24,556,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7549:Asb15
|
UTSW |
6 |
24,559,029 (GRCm39) |
splice site |
probably null |
|
|
R7662:Asb15
|
UTSW |
6 |
24,566,089 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7717:Asb15
|
UTSW |
6 |
24,559,251 (GRCm39) |
missense |
probably benign |
|
|
R7767:Asb15
|
UTSW |
6 |
24,559,281 (GRCm39) |
missense |
probably benign |
|
|
R7781:Asb15
|
UTSW |
6 |
24,562,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7797:Asb15
|
UTSW |
6 |
24,562,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7847:Asb15
|
UTSW |
6 |
24,564,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8055:Asb15
|
UTSW |
6 |
24,556,565 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8304:Asb15
|
UTSW |
6 |
24,559,296 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8694:Asb15
|
UTSW |
6 |
24,570,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Asb15
|
UTSW |
6 |
24,566,298 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Asb15
|
UTSW |
6 |
24,566,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation