Incidental Mutation 'R8368:Asb10'
| ID |
646252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb10
|
| Ensembl Gene |
ENSMUSG00000038204 |
| Gene Name |
ankyrin repeat and SOCS box-containing 10 |
| Synonyms |
Asb-10 |
| MMRRC Submission |
067738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24737695-24745976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24744615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 193
(I193S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048302]
[ENSMUST00000088302]
[ENSMUST00000117900]
[ENSMUST00000119657]
[ENSMUST00000200634]
|
| AlphaFold |
Q91ZT7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048302
AA Change: I193S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000041539
Gene: ENSMUSG00000038204
AA Change: I193S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
115 |
144 |
2.62e-4 |
SMART |
|
ANK
|
147 |
176 |
3.51e-5 |
SMART |
|
ANK
|
180 |
209 |
7.99e2 |
SMART |
|
ANK
|
214 |
243 |
1.44e-1 |
SMART |
|
ANK
|
247 |
289 |
2.39e2 |
SMART |
|
ANK
|
293 |
322 |
3.01e-4 |
SMART |
|
ANK
|
326 |
362 |
1.46e2 |
SMART |
|
SOCS_box
|
422 |
461 |
6.77e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088302
|
| SMART Domains |
Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
198 |
N/A |
INTRINSIC |
|
IQ
|
205 |
227 |
7.58e-2 |
SMART |
|
coiled coil region
|
335 |
382 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
484 |
N/A |
INTRINSIC |
|
Pfam:AAA
|
568 |
700 |
1.6e-14 |
PFAM |
|
low complexity region
|
819 |
825 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117900
AA Change: I178S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112743
Gene: ENSMUSG00000038204
AA Change: I178S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
100 |
129 |
2.62e-4 |
SMART |
|
ANK
|
132 |
161 |
3.51e-5 |
SMART |
|
ANK
|
165 |
194 |
7.99e2 |
SMART |
|
ANK
|
199 |
228 |
1.44e-1 |
SMART |
|
ANK
|
232 |
274 |
2.39e2 |
SMART |
|
ANK
|
278 |
307 |
3.01e-4 |
SMART |
|
ANK
|
311 |
347 |
1.46e2 |
SMART |
|
SOCS_box
|
407 |
446 |
6.77e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119657
AA Change: I193S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113328
Gene: ENSMUSG00000038204
AA Change: I193S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
115 |
144 |
2.62e-4 |
SMART |
|
ANK
|
147 |
176 |
3.51e-5 |
SMART |
|
ANK
|
180 |
209 |
7.99e2 |
SMART |
|
ANK
|
214 |
243 |
1.44e-1 |
SMART |
|
ANK
|
247 |
289 |
2.39e2 |
SMART |
|
ANK
|
293 |
322 |
3.01e-4 |
SMART |
|
ANK
|
326 |
362 |
1.46e2 |
SMART |
|
SOCS_box
|
384 |
423 |
6.77e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200634
|
| SMART Domains |
Protein: ENSMUSP00000142624
Gene: ENSMUSG00000038199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
198 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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. The SOCS box serves to couple suppressor of cytokine signaling (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. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
T |
15: 76,619,455 (GRCm39) |
S710T |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,133,820 (GRCm39) |
L67P |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,543,742 (GRCm39) |
L748P |
probably benign |
Het |
| Cers4 |
T |
G |
8: 4,565,698 (GRCm39) |
V48G |
probably benign |
Het |
| Chrna10 |
T |
C |
7: 101,764,223 (GRCm39) |
T54A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,052,124 (GRCm39) |
S242P |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,604,190 (GRCm39) |
T325A |
probably benign |
Het |
| Gm21190 |
A |
T |
5: 15,729,848 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gm49368 |
T |
C |
7: 127,713,921 (GRCm39) |
S909P |
probably benign |
Het |
| Gm5150 |
C |
A |
3: 16,044,902 (GRCm39) |
V108F |
probably damaging |
Het |
| Gsdmc2 |
G |
A |
15: 63,696,902 (GRCm39) |
T423I |
probably damaging |
Het |
| Hsf2 |
T |
A |
10: 57,388,241 (GRCm39) |
C501S |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,836,796 (GRCm39) |
N551D |
probably benign |
Het |
| Kctd3 |
G |
A |
1: 188,704,404 (GRCm39) |
T789I |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,759,264 (GRCm39) |
E474G |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,002,379 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
G |
4: 108,870,895 (GRCm39) |
D174G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 90,298,815 (GRCm39) |
Y445* |
probably null |
Het |
| Otol1 |
A |
G |
3: 69,935,199 (GRCm39) |
Y397C |
probably damaging |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Rad21l |
A |
G |
2: 151,495,390 (GRCm39) |
V431A |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,574,155 (GRCm39) |
L694S |
possibly damaging |
Het |
| Rasal1 |
A |
G |
5: 120,809,615 (GRCm39) |
S507G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,940,833 (GRCm39) |
D2162V |
probably damaging |
Het |
| Samd7 |
A |
T |
3: 30,819,574 (GRCm39) |
D441V |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,943,255 (GRCm39) |
S623G |
probably damaging |
Het |
| Shld1 |
T |
C |
2: 132,592,433 (GRCm39) |
I160T |
probably benign |
Het |
| Slc23a3 |
G |
T |
1: 75,106,281 (GRCm39) |
P313T |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,334,873 (GRCm39) |
S231P |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,368 (GRCm39) |
D1320G |
possibly damaging |
Het |
| Tdpoz7 |
A |
G |
3: 93,979,893 (GRCm39) |
F20S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,030 (GRCm39) |
T372A |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,672 (GRCm39) |
T149A |
possibly damaging |
Het |
| Trim63 |
TGAGGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAGGAG |
4: 134,055,017 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,838,070 (GRCm39) |
S927N |
probably benign |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,799 (GRCm39) |
G247V |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,682,455 (GRCm39) |
N342I |
probably damaging |
Het |
|
| Other mutations in Asb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03085:Asb10
|
APN |
5 |
24,744,601 (GRCm39) |
unclassified |
probably benign |
|
|
R0194:Asb10
|
UTSW |
5 |
24,742,930 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0789:Asb10
|
UTSW |
5 |
24,744,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Asb10
|
UTSW |
5 |
24,738,674 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4575:Asb10
|
UTSW |
5 |
24,745,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Asb10
|
UTSW |
5 |
24,745,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5518:Asb10
|
UTSW |
5 |
24,744,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Asb10
|
UTSW |
5 |
24,742,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7385:Asb10
|
UTSW |
5 |
24,738,736 (GRCm39) |
nonsense |
probably null |
|
|
R7634:Asb10
|
UTSW |
5 |
24,745,875 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8060:Asb10
|
UTSW |
5 |
24,738,833 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8320:Asb10
|
UTSW |
5 |
24,742,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8768:Asb10
|
UTSW |
5 |
24,738,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8951:Asb10
|
UTSW |
5 |
24,742,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Asb10
|
UTSW |
5 |
24,745,209 (GRCm39) |
missense |
probably benign |
|
|
R9316:Asb10
|
UTSW |
5 |
24,745,045 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9380:Asb10
|
UTSW |
5 |
24,739,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGACCATGAGGCTAGGC -3'
(R):5'- TATGAAGAGGAGCTGACCACTC -3'
Sequencing Primer
(F):5'- CCCCTGCCCCAGCTCTC -3'
(R):5'- GGCCACACTGAAGTTCTTGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation