Incidental Mutation 'R1208:Asb14'
| ID |
164835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb14
|
| Ensembl Gene |
ENSMUSG00000021898 |
| Gene Name |
ankyrin repeat and SOCS box-containing 14 |
| Synonyms |
|
| MMRRC Submission |
039277-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1208 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26616514-26637215 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 26622375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090337]
[ENSMUST00000165929]
[ENSMUST00000167929]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090337
|
| SMART Domains |
Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167929
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
| Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
| Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
| Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
| Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
| Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
| Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
| Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
| Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
| Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
| Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
| Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
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 |
|
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 |
|
R3056:Asb14
|
UTSW |
14 |
26,636,146 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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'- GCGCCCATGTAGACTTGTTTCCTTG -3'
(R):5'- GCTTCAACATCAAAGGCTTCGCAC -3'
Sequencing Primer
(F):5'- gcactggggatcaaatccaag -3'
(R):5'- TGTCTACACAGGAACTCTGGC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation