Incidental Mutation 'R6420:Asb13'
| ID |
518160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb13
|
| Ensembl Gene |
ENSMUSG00000033781 |
| Gene Name |
ankyrin repeat and SOCS box-containing 13 |
| Synonyms |
6430573K02Rik, 2210015B19Rik |
| MMRRC Submission |
044562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
3684032-3703822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3693574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 111
(V111I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042288]
|
| AlphaFold |
Q8VBX0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042288
AA Change: V111I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: V111I
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157850
|
| Meta Mutation Damage Score |
0.1502 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,566 (GRCm39) |
I117N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,193,906 (GRCm39) |
E367G |
possibly damaging |
Het |
| Epc2 |
T |
C |
2: 49,341,912 (GRCm39) |
V32A |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,358,726 (GRCm39) |
E275G |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,142,102 (GRCm39) |
D392G |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,389,978 (GRCm39) |
R4* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Mup1 |
C |
G |
4: 60,457,758 (GRCm39) |
E31Q |
possibly damaging |
Het |
| Nckap1l |
G |
C |
15: 103,399,893 (GRCm39) |
G1025A |
possibly damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pik3r5 |
G |
A |
11: 68,366,250 (GRCm39) |
W42* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,098 (GRCm39) |
V74A |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,175,701 (GRCm39) |
G22D |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,483,516 (GRCm39) |
D1051E |
probably benign |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,977,128 (GRCm39) |
V78A |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,107,340 (GRCm39) |
N477I |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,505,007 (GRCm39) |
L289P |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
probably 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 |
|
IGL01533:Asb13
|
APN |
13 |
3,692,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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'- GCTTGTTTCAGACCAGTGAAC -3'
(R):5'- AGAACCAAGAGATTGTACTGGTTC -3'
Sequencing Primer
(F):5'- ATCTTTGCAATGATGGACCTGC -3'
(R):5'- GTACTGGTTCTATCTACTGGTGACAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation