Incidental Mutation 'R4322:Asb13'
| ID |
323882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb13
|
| Ensembl Gene |
ENSMUSG00000033781 |
| Gene Name |
ankyrin repeat and SOCS box-containing 13 |
| Synonyms |
6430573K02Rik, 2210015B19Rik |
| MMRRC Submission |
041093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4322 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
3684032-3703822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3695012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 160
(R160L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042288]
|
| AlphaFold |
Q8VBX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042288
AA Change: R160L
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781
AA Change: R160L
| 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 |
0.1097 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
94% (48/51) |
| 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 |
|---|
| Actrt2 |
G |
A |
4: 154,751,701 (GRCm39) |
A145V |
probably damaging |
Het |
| Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
| Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
| Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
| Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
| Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
| Mc4r |
T |
C |
18: 66,992,121 (GRCm39) |
R331G |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
| Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
| Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 19,007,960 (GRCm39) |
F264L |
probably damaging |
Het |
| Vtn |
A |
T |
11: 78,390,916 (GRCm39) |
|
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 |
|
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 |
|
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'- TGCTGTTCATCATGGCTACC -3'
(R):5'- GACGAACTGAGAAATGCTGTC -3'
Sequencing Primer
(F):5'- ATGGCTACCATTTCCAGTGTG -3'
(R):5'- TTTCCAGTTTCATAGACACAGAGGCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation