Incidental Mutation 'IGL00870:Asb5'
| ID |
9080 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb5
|
| Ensembl Gene |
ENSMUSG00000031519 |
| Gene Name |
ankyrin repeat and SOCs box-containing 5 |
| Synonyms |
1110018D09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL00870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
55003366-55040877 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 55036695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033918]
|
| AlphaFold |
Q9D1A4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033918
|
| SMART Domains |
Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
69 |
98 |
6.26e-2 |
SMART |
|
ANK
|
102 |
131 |
2.45e-4 |
SMART |
|
ANK
|
135 |
164 |
7.19e-2 |
SMART |
|
ANK
|
167 |
196 |
5.58e1 |
SMART |
|
ANK
|
200 |
229 |
9.35e-1 |
SMART |
|
ANK
|
232 |
261 |
5.32e-5 |
SMART |
|
SOCS_box
|
290 |
329 |
5.37e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209937
|
| 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 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 have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,031,695 (GRCm39) |
I569N |
probably damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,517,014 (GRCm39) |
|
probably null |
Het |
| Dlat |
A |
G |
9: 50,562,169 (GRCm39) |
L285P |
probably damaging |
Het |
| Dytn |
T |
C |
1: 63,716,272 (GRCm39) |
|
probably benign |
Het |
| Ears2 |
A |
T |
7: 121,654,899 (GRCm39) |
L123Q |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,519,983 (GRCm39) |
V212A |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,764,492 (GRCm39) |
Y358H |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,097,437 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Krtap20-2 |
G |
A |
16: 89,002,875 (GRCm39) |
G25D |
unknown |
Het |
| Lrif1 |
T |
C |
3: 106,641,957 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
G |
13: 100,288,568 (GRCm39) |
|
probably benign |
Het |
| Or8b37 |
A |
T |
9: 37,959,036 (GRCm39) |
I173F |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,131,300 (GRCm39) |
L396Q |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,589,997 (GRCm39) |
R766W |
unknown |
Het |
| Pkhd1 |
T |
A |
1: 20,641,614 (GRCm39) |
I275F |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,301 (GRCm39) |
F357S |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,391 (GRCm39) |
V327A |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,450,800 (GRCm39) |
I181V |
probably damaging |
Het |
| Smad5 |
A |
G |
13: 56,871,480 (GRCm39) |
D25G |
probably benign |
Het |
| Strada |
A |
G |
11: 106,062,083 (GRCm39) |
L82P |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,761,318 (GRCm39) |
Y1079* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,870,167 (GRCm39) |
T209A |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,580 (GRCm39) |
Q836* |
probably null |
Het |
| Toporsl |
T |
C |
4: 52,610,172 (GRCm39) |
S22P |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,202,078 (GRCm39) |
|
probably null |
Het |
| Ttc39a |
A |
G |
4: 109,299,542 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,096,756 (GRCm39) |
D60G |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,098 (GRCm39) |
M86L |
probably benign |
Het |
| Vmn1r220 |
C |
T |
13: 23,368,647 (GRCm39) |
M16I |
probably null |
Het |
|
| Other mutations in Asb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Asb5
|
APN |
8 |
55,038,798 (GRCm39) |
splice site |
probably benign |
|
|
IGL01383:Asb5
|
APN |
8 |
55,003,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03214:Asb5
|
APN |
8 |
55,038,098 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03403:Asb5
|
APN |
8 |
55,036,582 (GRCm39) |
splice site |
probably benign |
|
|
R2002:Asb5
|
UTSW |
8 |
55,036,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4768:Asb5
|
UTSW |
8 |
55,038,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4786:Asb5
|
UTSW |
8 |
55,038,874 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5602:Asb5
|
UTSW |
8 |
55,038,974 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6475:Asb5
|
UTSW |
8 |
55,003,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6836:Asb5
|
UTSW |
8 |
55,038,106 (GRCm39) |
missense |
probably benign |
|
|
R7716:Asb5
|
UTSW |
8 |
55,038,021 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7775:Asb5
|
UTSW |
8 |
55,037,827 (GRCm39) |
missense |
|
|
|
R7778:Asb5
|
UTSW |
8 |
55,037,827 (GRCm39) |
missense |
|
|
|
R7824:Asb5
|
UTSW |
8 |
55,037,827 (GRCm39) |
missense |
|
|
|
R8156:Asb5
|
UTSW |
8 |
55,003,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Asb5
|
UTSW |
8 |
55,038,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation