Incidental Mutation 'R3056:Asb14'
| ID |
265187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb14
|
| Ensembl Gene |
ENSMUSG00000021898 |
| Gene Name |
ankyrin repeat and SOCS box-containing 14 |
| Synonyms |
|
| MMRRC Submission |
040565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R3056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26616514-26637215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26636146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 510
(I510V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036570]
[ENSMUST00000090337]
[ENSMUST00000165929]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036570
|
| SMART Domains |
Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
7 |
249 |
2.6e-66 |
PFAM |
|
PH
|
278 |
377 |
1.4e-3 |
SMART |
|
low complexity region
|
425 |
434 |
N/A |
INTRINSIC |
|
Pfam:PID
|
501 |
632 |
6.6e-12 |
PFAM |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090337
AA Change: I510V
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: I510V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
109 |
138 |
9.62e2 |
SMART |
|
ANK
|
144 |
173 |
2.34e-1 |
SMART |
|
ANK
|
177 |
206 |
1.7e-3 |
SMART |
|
ANK
|
210 |
239 |
1.7e-3 |
SMART |
|
ANK
|
243 |
272 |
2.66e-5 |
SMART |
|
ANK
|
276 |
305 |
4.75e-2 |
SMART |
|
ANK
|
309 |
337 |
4.31e2 |
SMART |
|
ANK
|
341 |
370 |
5.24e-4 |
SMART |
|
ANK
|
383 |
412 |
3.6e-2 |
SMART |
|
ANK
|
413 |
442 |
5.45e-2 |
SMART |
|
ANK
|
450 |
477 |
1.9e3 |
SMART |
|
SOCS_box
|
559 |
601 |
1.8e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165305
|
| SMART Domains |
Protein: ENSMUSP00000131669
Gene: ENSMUSG00000021898
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
26 |
55 |
1.7e-3 |
SMART |
|
ANK
|
59 |
88 |
7.71e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165929
AA Change: I510V
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: I510V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
109 |
138 |
9.62e2 |
SMART |
|
ANK
|
144 |
173 |
2.34e-1 |
SMART |
|
ANK
|
177 |
206 |
1.7e-3 |
SMART |
|
ANK
|
210 |
239 |
1.7e-3 |
SMART |
|
ANK
|
243 |
272 |
2.66e-5 |
SMART |
|
ANK
|
276 |
305 |
4.75e-2 |
SMART |
|
ANK
|
309 |
337 |
4.31e2 |
SMART |
|
ANK
|
341 |
370 |
5.24e-4 |
SMART |
|
ANK
|
383 |
412 |
3.6e-2 |
SMART |
|
ANK
|
413 |
442 |
5.45e-2 |
SMART |
|
ANK
|
450 |
477 |
1.9e3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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. 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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,127,626 (GRCm39) |
M131K |
probably benign |
Het |
| Agbl1 |
C |
T |
7: 76,416,232 (GRCm39) |
T751M |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,355 (GRCm39) |
I187T |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,956,709 (GRCm39) |
S376P |
unknown |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,280,491 (GRCm39) |
S2805P |
unknown |
Het |
| Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,869 (GRCm39) |
D3061G |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,138,409 (GRCm39) |
F835S |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,151,272 (GRCm39) |
T228A |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,738,592 (GRCm39) |
T1457K |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Lmx1b |
G |
A |
2: 33,457,297 (GRCm39) |
Q168* |
probably null |
Het |
| Ltbp3 |
C |
A |
19: 5,801,434 (GRCm39) |
N659K |
probably benign |
Het |
| Micos13 |
A |
G |
17: 56,915,889 (GRCm39) |
F55S |
probably damaging |
Het |
| Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,860 (GRCm39) |
N825S |
possibly damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,583 (GRCm39) |
T48S |
probably benign |
Het |
| Or5p67 |
A |
T |
7: 107,922,757 (GRCm39) |
V42E |
possibly damaging |
Het |
| Or8k3b |
C |
A |
2: 86,520,896 (GRCm39) |
C141F |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,912,250 (GRCm39) |
R79Q |
probably damaging |
Het |
| Peg10 |
G |
A |
6: 4,755,029 (GRCm39) |
R270H |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,507,283 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tmem92 |
C |
T |
11: 94,669,873 (GRCm39) |
C86Y |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,011,895 (GRCm39) |
|
probably null |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,344 (GRCm39) |
C1433* |
probably null |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,360 (GRCm39) |
Y405F |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
| Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
probably benign |
Het |
|
| Other mutations in Asb14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Asb14
|
APN |
14 |
26,633,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01412:Asb14
|
APN |
14 |
26,637,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02805:Asb14
|
APN |
14 |
26,623,144 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03100:Asb14
|
APN |
14 |
26,625,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1208:Asb14
|
UTSW |
14 |
26,622,375 (GRCm39) |
splice site |
probably benign |
|
|
R1707:Asb14
|
UTSW |
14 |
26,623,079 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1828:Asb14
|
UTSW |
14 |
26,633,797 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3926:Asb14
|
UTSW |
14 |
26,619,695 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4991:Asb14
|
UTSW |
14 |
26,637,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Asb14
|
UTSW |
14 |
26,634,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5306:Asb14
|
UTSW |
14 |
26,633,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Asb14
|
UTSW |
14 |
26,622,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7032:Asb14
|
UTSW |
14 |
26,625,412 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7202:Asb14
|
UTSW |
14 |
26,622,394 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7259:Asb14
|
UTSW |
14 |
26,625,412 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7468:Asb14
|
UTSW |
14 |
26,622,805 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7733:Asb14
|
UTSW |
14 |
26,634,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7765:Asb14
|
UTSW |
14 |
26,619,718 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8162:Asb14
|
UTSW |
14 |
26,633,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8305:Asb14
|
UTSW |
14 |
26,634,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8408:Asb14
|
UTSW |
14 |
26,637,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Asb14
|
UTSW |
14 |
26,623,032 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9415:Asb14
|
UTSW |
14 |
26,633,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9559:Asb14
|
UTSW |
14 |
26,637,052 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9608:Asb14
|
UTSW |
14 |
26,634,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Asb14
|
UTSW |
14 |
26,625,305 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Asb14
|
UTSW |
14 |
26,634,256 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCATCTGCCACTCACTG -3'
(R):5'- CATTTGCGGGGAAGTGATAATAAGC -3'
Sequencing Primer
(F):5'- ACTCACTGCCTCGTGTGAG -3'
(R):5'- AGGTCAACCTTTTAATCAGAAGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation