Incidental Mutation 'IGL01533:Asb13'
| ID |
89824 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb13
|
| Ensembl Gene |
ENSMUSG00000033781 |
| Gene Name |
ankyrin repeat and SOCS box-containing 13 |
| Synonyms |
6430573K02Rik, 2210015B19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01533
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
3684032-3703822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3692164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 48
(V48A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042288]
|
| AlphaFold |
Q8VBX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042288
AA Change: V48A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: V48A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
18 |
47 |
1.25e2 |
SMART |
|
ANK
|
51 |
80 |
3.91e-3 |
SMART |
|
ANK
|
84 |
113 |
1.53e-5 |
SMART |
|
ANK
|
116 |
145 |
3.71e-4 |
SMART |
|
ANK
|
149 |
178 |
6.65e-6 |
SMART |
|
ANK
|
181 |
210 |
6.92e-4 |
SMART |
|
SOCS_box
|
239 |
278 |
2.43e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141147
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141967
|
| 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. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
C |
A |
18: 67,538,488 (GRCm39) |
E757* |
probably null |
Het |
| Arhgap15 |
T |
C |
2: 44,133,165 (GRCm39) |
V357A |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,664,384 (GRCm39) |
R74G |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,943,830 (GRCm39) |
H568R |
probably benign |
Het |
| Cbx5 |
T |
C |
15: 103,114,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,757,815 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
C |
A |
15: 55,284,236 (GRCm39) |
N832K |
unknown |
Het |
| Cyp2a4 |
A |
T |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,192,939 (GRCm39) |
L215P |
probably damaging |
Het |
| Dtx4 |
T |
C |
19: 12,455,579 (GRCm39) |
M480V |
possibly damaging |
Het |
| Edaradd |
A |
G |
13: 12,493,463 (GRCm39) |
|
probably benign |
Het |
| Galnt13 |
T |
A |
2: 54,770,144 (GRCm39) |
M312K |
probably damaging |
Het |
| Gcdh |
T |
A |
8: 85,615,991 (GRCm39) |
R337W |
probably damaging |
Het |
| Gm28557 |
A |
T |
13: 67,219,396 (GRCm39) |
C109* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
G |
9: 4,502,395 (GRCm39) |
L379F |
probably damaging |
Het |
| Gxylt2 |
T |
C |
6: 100,760,098 (GRCm39) |
L211P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,651 (GRCm39) |
I2341F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,666 (GRCm39) |
D2365G |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,695 (GRCm39) |
|
probably benign |
Het |
| Ncoa3 |
T |
C |
2: 165,896,945 (GRCm39) |
S579P |
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 25,490,527 (GRCm39) |
N400S |
possibly damaging |
Het |
| Or5w17 |
C |
A |
2: 87,583,412 (GRCm39) |
R308S |
probably benign |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,126,065 (GRCm39) |
S1102P |
probably benign |
Het |
| Polr1e |
A |
G |
4: 45,019,328 (GRCm39) |
Y59C |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,256,965 (GRCm39) |
Q1226* |
probably null |
Het |
| Rab12 |
A |
T |
17: 66,804,430 (GRCm39) |
I176K |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,736,676 (GRCm39) |
N2250K |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,172,919 (GRCm39) |
T1865A |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,436,499 (GRCm39) |
|
probably benign |
Het |
| Smarcb1 |
C |
T |
10: 75,752,602 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,722,511 (GRCm39) |
L845S |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,137,578 (GRCm39) |
N456K |
probably damaging |
Het |
| Tex264 |
A |
G |
9: 106,550,798 (GRCm39) |
I133T |
probably benign |
Het |
| Thoc1 |
T |
C |
18: 9,962,376 (GRCm39) |
V87A |
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,857,803 (GRCm39) |
D778N |
probably damaging |
Het |
| Tspan14 |
A |
G |
14: 40,638,776 (GRCm39) |
I88T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,562,918 (GRCm39) |
V28679L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,782,285 (GRCm39) |
S984P |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,070,667 (GRCm39) |
E423G |
possibly damaging |
Het |
|
| Other mutations in Asb13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Asb13
|
APN |
13 |
3,693,476 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL00929:Asb13
|
APN |
13 |
3,699,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0654:Asb13
|
UTSW |
13 |
3,692,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0694:Asb13
|
UTSW |
13 |
3,699,480 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0883:Asb13
|
UTSW |
13 |
3,695,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2014:Asb13
|
UTSW |
13 |
3,699,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2290:Asb13
|
UTSW |
13 |
3,699,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Asb13
|
UTSW |
13 |
3,695,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4322:Asb13
|
UTSW |
13 |
3,695,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4324:Asb13
|
UTSW |
13 |
3,695,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4895:Asb13
|
UTSW |
13 |
3,693,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5305:Asb13
|
UTSW |
13 |
3,693,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6417:Asb13
|
UTSW |
13 |
3,693,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6420:Asb13
|
UTSW |
13 |
3,693,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Asb13
|
UTSW |
13 |
3,695,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7648:Asb13
|
UTSW |
13 |
3,699,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Asb13
|
UTSW |
13 |
3,684,180 (GRCm39) |
splice site |
probably null |
|
|
R7771:Asb13
|
UTSW |
13 |
3,699,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Asb13
|
UTSW |
13 |
3,699,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Asb13
|
UTSW |
13 |
3,692,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8737:Asb13
|
UTSW |
13 |
3,692,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8966:Asb13
|
UTSW |
13 |
3,692,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation