Incidental Mutation 'R0654:Asb13'
| ID |
62443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb13
|
| Ensembl Gene |
ENSMUSG00000033781 |
| Gene Name |
ankyrin repeat and SOCS box-containing 13 |
| Synonyms |
6430573K02Rik, 2210015B19Rik |
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
89 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
3684032-3703822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3692092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 24
(H24P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042288]
|
| AlphaFold |
Q8VBX0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042288
AA Change: H24P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: H24P
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
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 |
|
IGL01533:Asb13
|
APN |
13 |
3,692,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCGCAGACACCCTTATATGCCC -3'
(R):5'- TCAATGCCGAATGGTCACCCAC -3'
Sequencing Primer
(F):5'- TGCCCTAGCAAGAACTTTGAG -3'
(R):5'- GTCACCCACCTGGGCAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation