Incidental Mutation 'R3147:Asb15'
ID |
264281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asb15
|
Ensembl Gene |
ENSMUSG00000029685 |
Gene Name |
ankyrin repeat and SOCS box-containing 15 |
Synonyms |
4930400E23Rik |
MMRRC Submission |
040599-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 24566258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 404
(A404S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031696]
[ENSMUST00000117688]
|
AlphaFold |
Q8VHS6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031696
AA Change: A404S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031696 Gene: ENSMUSG00000029685 AA Change: A404S
Domain | Start | End | E-Value | Type |
ANK
|
110 |
139 |
1.59e-3 |
SMART |
ANK
|
143 |
172 |
2.97e-3 |
SMART |
ANK
|
176 |
205 |
1.93e-2 |
SMART |
ANK
|
209 |
238 |
2.1e-3 |
SMART |
ANK
|
242 |
273 |
5.01e-1 |
SMART |
ANK
|
275 |
304 |
2.63e2 |
SMART |
ANK
|
307 |
336 |
1.99e-4 |
SMART |
ANK
|
349 |
378 |
5.24e-4 |
SMART |
ANK
|
379 |
408 |
1.27e-2 |
SMART |
ANK
|
417 |
444 |
2.35e3 |
SMART |
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117688
AA Change: A404S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112965 Gene: ENSMUSG00000029685 AA Change: A404S
Domain | Start | End | E-Value | Type |
ANK
|
110 |
139 |
1.59e-3 |
SMART |
ANK
|
143 |
172 |
2.97e-3 |
SMART |
ANK
|
176 |
205 |
1.93e-2 |
SMART |
ANK
|
209 |
238 |
2.1e-3 |
SMART |
ANK
|
242 |
273 |
5.01e-1 |
SMART |
ANK
|
275 |
304 |
2.63e2 |
SMART |
ANK
|
307 |
336 |
1.99e-4 |
SMART |
ANK
|
349 |
378 |
5.24e-4 |
SMART |
ANK
|
379 |
408 |
1.27e-2 |
SMART |
ANK
|
417 |
444 |
2.35e3 |
SMART |
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
Amy1 |
T |
C |
3: 113,363,697 (GRCm39) |
|
probably benign |
Het |
Atf2 |
T |
C |
2: 73,681,283 (GRCm39) |
|
probably null |
Het |
Atosa |
A |
G |
9: 74,916,120 (GRCm39) |
I240V |
probably benign |
Het |
Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,805,822 (GRCm39) |
N311S |
probably damaging |
Het |
Dbx1 |
C |
A |
7: 49,286,297 (GRCm39) |
R56L |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,194,003 (GRCm39) |
|
probably null |
Het |
Elmod3 |
T |
G |
6: 72,563,485 (GRCm39) |
T48P |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,324,865 (GRCm39) |
S820P |
probably damaging |
Het |
Gimap8 |
T |
C |
6: 48,627,440 (GRCm39) |
V138A |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,285 (GRCm39) |
|
probably benign |
Het |
Il6ra |
G |
T |
3: 89,793,235 (GRCm39) |
P305Q |
probably benign |
Het |
Kcng3 |
A |
G |
17: 83,895,749 (GRCm39) |
V239A |
possibly damaging |
Het |
Kcnrg |
T |
C |
14: 61,845,140 (GRCm39) |
F60S |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,044,653 (GRCm39) |
D184G |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,065,771 (GRCm39) |
L206Q |
probably damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,277 (GRCm39) |
D344G |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
Mtcl2 |
T |
G |
2: 156,862,284 (GRCm39) |
K1548N |
possibly damaging |
Het |
Mtfr1 |
T |
C |
3: 19,271,374 (GRCm39) |
V182A |
probably benign |
Het |
Or14a259 |
A |
G |
7: 86,013,092 (GRCm39) |
L151S |
probably benign |
Het |
Or5p64 |
C |
T |
7: 107,854,883 (GRCm39) |
G154D |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGAGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
Sox7 |
A |
T |
14: 64,186,083 (GRCm39) |
Y373F |
probably damaging |
Het |
Tuba1b |
T |
C |
15: 98,830,386 (GRCm39) |
T145A |
probably benign |
Het |
Usp32 |
T |
A |
11: 84,919,913 (GRCm39) |
N718I |
probably damaging |
Het |
Wapl |
G |
A |
14: 34,447,106 (GRCm39) |
V648M |
probably damaging |
Het |
Zfp85 |
C |
T |
13: 67,900,612 (GRCm39) |
V10M |
probably damaging |
Het |
Zgrf1 |
A |
G |
3: 127,377,797 (GRCm39) |
N1014S |
possibly damaging |
Het |
|
Other mutations in Asb15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Asb15
|
APN |
6 |
24,558,642 (GRCm39) |
splice site |
probably benign |
|
IGL00557:Asb15
|
APN |
6 |
24,558,649 (GRCm39) |
missense |
probably benign |
|
IGL00694:Asb15
|
APN |
6 |
24,570,663 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01137:Asb15
|
APN |
6 |
24,556,521 (GRCm39) |
missense |
probably benign |
|
IGL01681:Asb15
|
APN |
6 |
24,567,137 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01691:Asb15
|
APN |
6 |
24,567,271 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01791:Asb15
|
APN |
6 |
24,567,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01989:Asb15
|
APN |
6 |
24,565,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02480:Asb15
|
APN |
6 |
24,570,745 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02541:Asb15
|
APN |
6 |
24,566,265 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02707:Asb15
|
APN |
6 |
24,558,787 (GRCm39) |
splice site |
probably benign |
|
IGL03090:Asb15
|
APN |
6 |
24,567,185 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL03331:Asb15
|
APN |
6 |
24,556,523 (GRCm39) |
missense |
possibly damaging |
0.70 |
3-1:Asb15
|
UTSW |
6 |
24,566,220 (GRCm39) |
missense |
probably benign |
0.00 |
BB002:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
BB012:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
R0196:Asb15
|
UTSW |
6 |
24,564,392 (GRCm39) |
missense |
probably damaging |
0.99 |
R0603:Asb15
|
UTSW |
6 |
24,556,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Asb15
|
UTSW |
6 |
24,566,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R1114:Asb15
|
UTSW |
6 |
24,567,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Asb15
|
UTSW |
6 |
24,562,486 (GRCm39) |
splice site |
probably benign |
|
R1365:Asb15
|
UTSW |
6 |
24,567,269 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2323:Asb15
|
UTSW |
6 |
24,556,600 (GRCm39) |
missense |
probably benign |
0.01 |
R3148:Asb15
|
UTSW |
6 |
24,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R4762:Asb15
|
UTSW |
6 |
24,567,236 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4771:Asb15
|
UTSW |
6 |
24,570,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R4915:Asb15
|
UTSW |
6 |
24,566,292 (GRCm39) |
missense |
probably damaging |
0.96 |
R5369:Asb15
|
UTSW |
6 |
24,562,563 (GRCm39) |
missense |
probably benign |
0.00 |
R5415:Asb15
|
UTSW |
6 |
24,570,690 (GRCm39) |
missense |
probably benign |
0.05 |
R5781:Asb15
|
UTSW |
6 |
24,564,377 (GRCm39) |
missense |
probably benign |
0.11 |
R6649:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
R6653:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
R6781:Asb15
|
UTSW |
6 |
24,558,674 (GRCm39) |
missense |
probably benign |
|
R6984:Asb15
|
UTSW |
6 |
24,566,336 (GRCm39) |
missense |
probably benign |
0.17 |
R7297:Asb15
|
UTSW |
6 |
24,566,462 (GRCm39) |
missense |
probably damaging |
0.96 |
R7340:Asb15
|
UTSW |
6 |
24,558,513 (GRCm39) |
missense |
probably benign |
0.00 |
R7419:Asb15
|
UTSW |
6 |
24,556,555 (GRCm39) |
missense |
probably benign |
0.08 |
R7549:Asb15
|
UTSW |
6 |
24,559,029 (GRCm39) |
splice site |
probably null |
|
R7662:Asb15
|
UTSW |
6 |
24,566,089 (GRCm39) |
missense |
probably benign |
0.08 |
R7717:Asb15
|
UTSW |
6 |
24,559,251 (GRCm39) |
missense |
probably benign |
|
R7767:Asb15
|
UTSW |
6 |
24,559,281 (GRCm39) |
missense |
probably benign |
|
R7781:Asb15
|
UTSW |
6 |
24,562,644 (GRCm39) |
missense |
probably benign |
0.01 |
R7797:Asb15
|
UTSW |
6 |
24,562,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R7847:Asb15
|
UTSW |
6 |
24,564,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R7925:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
R8055:Asb15
|
UTSW |
6 |
24,556,565 (GRCm39) |
missense |
probably benign |
0.05 |
R8304:Asb15
|
UTSW |
6 |
24,559,296 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8694:Asb15
|
UTSW |
6 |
24,570,666 (GRCm39) |
missense |
probably benign |
0.00 |
R9268:Asb15
|
UTSW |
6 |
24,566,298 (GRCm39) |
missense |
probably benign |
|
Z1176:Asb15
|
UTSW |
6 |
24,566,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCAGAGTTACGATGATGAGAG -3'
(R):5'- TTATGCATGATGTCCACCCTG -3'
Sequencing Primer
(F):5'- AGAAAGACTGCGCTATACTTCG -3'
(R):5'- ATGATGTCCACCCTGGCAGTC -3'
|
Posted On |
2015-02-05 |