Incidental Mutation 'R9316:Asb10'
| ID |
705873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb10
|
| Ensembl Gene |
ENSMUSG00000038204 |
| Gene Name |
ankyrin repeat and SOCS box-containing 10 |
| Synonyms |
Asb-10 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24737695-24745976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24745045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 101
(N101K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048302]
[ENSMUST00000088302]
[ENSMUST00000117900]
[ENSMUST00000119657]
[ENSMUST00000200634]
|
| AlphaFold |
Q91ZT7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048302
AA Change: N101K
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041539
Gene: ENSMUSG00000038204
AA Change: N101K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112743
Gene: ENSMUSG00000038204
| 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 |
possibly damaging
Transcript: ENSMUST00000119657
AA Change: N101K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113328
Gene: ENSMUSG00000038204
AA Change: N101K
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
91% (32/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
A |
2: 158,477,274 (GRCm39) |
N408K |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,747,832 (GRCm39) |
I35V |
probably benign |
Het |
| Bpifa6 |
T |
C |
2: 153,828,383 (GRCm39) |
V163A |
possibly damaging |
Het |
| Dmp1 |
G |
T |
5: 104,357,767 (GRCm39) |
D36Y |
probably benign |
Het |
| Eef1d |
T |
A |
15: 75,781,130 (GRCm39) |
|
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,259,328 (GRCm39) |
R47H |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,896,174 (GRCm39) |
N72S |
probably benign |
Het |
| Gpr45 |
T |
A |
1: 43,071,534 (GRCm39) |
V59E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,250 (GRCm39) |
E246G |
possibly damaging |
Het |
| Hspa12a |
C |
T |
19: 58,793,079 (GRCm39) |
E369K |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,298,726 (GRCm39) |
T31A |
possibly damaging |
Het |
| Il6st |
T |
A |
13: 112,639,349 (GRCm39) |
N652K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,381,973 (GRCm39) |
D672E |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,477,912 (GRCm39) |
S95P |
probably benign |
Het |
| Lrrc51 |
C |
T |
7: 101,562,351 (GRCm39) |
R169H |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,235,134 (GRCm39) |
V217A |
probably benign |
Het |
| Or3a4 |
A |
T |
11: 73,944,892 (GRCm39) |
I231N |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,924,707 (GRCm39) |
K186E |
possibly damaging |
Het |
| Pate3 |
C |
T |
9: 35,557,374 (GRCm39) |
C94Y |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,709,089 (GRCm39) |
T742M |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,784,659 (GRCm39) |
S779T |
probably damaging |
Het |
| Prep |
A |
T |
10: 44,967,192 (GRCm39) |
K75M |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,101,084 (GRCm39) |
K475T |
probably benign |
Het |
| Qsox2 |
T |
A |
2: 26,101,085 (GRCm39) |
K475* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,674,863 (GRCm39) |
D42E |
unknown |
Het |
| Ripor2 |
C |
T |
13: 24,905,719 (GRCm39) |
T955M |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,717,387 (GRCm39) |
E4554K |
unknown |
Het |
| Slco1a5 |
A |
T |
6: 142,195,935 (GRCm39) |
L356H |
probably damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,274,215 (GRCm39) |
A30V |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,430,855 (GRCm39) |
H158N |
possibly damaging |
Het |
| Tmem217 |
A |
G |
17: 29,745,383 (GRCm39) |
F116L |
probably benign |
Het |
| Tnfrsf13c |
A |
G |
15: 82,108,021 (GRCm39) |
I119T |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,017,604 (GRCm39) |
R736H |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,313 (GRCm39) |
R833S |
possibly damaging |
Het |
| Zfp330 |
A |
G |
8: 83,491,487 (GRCm39) |
S229P |
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 |
|
|
R8368:Asb10
|
UTSW |
5 |
24,744,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
R9380:Asb10
|
UTSW |
5 |
24,739,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGAGACCAGAGTCCTAG -3'
(R):5'- CAAGCTGGTAGAGAAGCCTG -3'
Sequencing Primer
(F):5'- TCAGAGACCAGAGTCCTAGGAAGAG -3'
(R):5'- CTGGCCTGGGACCTATCATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation