Incidental Mutation 'IGL03100:Asb14'
| ID |
418700 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb14
|
| Ensembl Gene |
ENSMUSG00000021898 |
| Gene Name |
ankyrin repeat and SOCS box-containing 14 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL03100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
26616514-26637215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26625329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 228
(K228R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090337]
[ENSMUST00000165929]
[ENSMUST00000167929]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090337
AA Change: K228R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: K228R
| 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 |
unknown
Transcript: ENSMUST00000165305
AA Change: K43R
|
| SMART Domains |
Protein: ENSMUSP00000131669
Gene: ENSMUSG00000021898
AA Change: K43R
| 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: K228R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: K228R
| 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 |
|
| 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 |
|---|
| Abca13 |
A |
T |
11: 9,208,527 (GRCm39) |
R233S |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,640,270 (GRCm39) |
W73R |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,964 (GRCm39) |
V247A |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,486,109 (GRCm39) |
T538S |
probably benign |
Het |
| Atp6v0d2 |
C |
T |
4: 19,910,586 (GRCm39) |
|
probably null |
Het |
| B3gat2 |
A |
T |
1: 23,802,272 (GRCm39) |
D186V |
probably damaging |
Het |
| Bmpr1a |
A |
T |
14: 34,163,164 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,175 (GRCm39) |
D224G |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,770,303 (GRCm39) |
M463V |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,626 (GRCm39) |
I188T |
possibly damaging |
Het |
| Cldn17 |
G |
T |
16: 88,303,489 (GRCm39) |
A80E |
probably damaging |
Het |
| Clptm1l |
A |
G |
13: 73,760,509 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,814,512 (GRCm39) |
V500E |
unknown |
Het |
| Ctdspl2 |
C |
T |
2: 121,809,394 (GRCm39) |
T115I |
probably benign |
Het |
| Dbh |
G |
T |
2: 27,055,534 (GRCm39) |
A3S |
probably benign |
Het |
| Fgd4 |
A |
G |
16: 16,295,383 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
T |
A |
19: 12,602,083 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,461,751 (GRCm39) |
M551T |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,253,608 (GRCm39) |
T58A |
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,527,682 (GRCm39) |
K890R |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,446 (GRCm39) |
H809R |
possibly damaging |
Het |
| Knl1 |
A |
G |
2: 118,931,251 (GRCm39) |
E1989G |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,561,939 (GRCm39) |
D125G |
probably damaging |
Het |
| Ogdhl |
A |
T |
14: 32,064,029 (GRCm39) |
M632L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,531,499 (GRCm39) |
I1374T |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,046,243 (GRCm39) |
N670K |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,018 (GRCm39) |
H590R |
probably damaging |
Het |
| Scara3 |
A |
C |
14: 66,168,722 (GRCm39) |
H298Q |
probably damaging |
Het |
| Sirt3 |
T |
C |
7: 140,445,030 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc13a2 |
T |
C |
11: 78,295,299 (GRCm39) |
Q158R |
probably damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,949,504 (GRCm39) |
T629S |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,528 (GRCm39) |
K157E |
probably damaging |
Het |
| Srsf1 |
T |
A |
11: 87,939,954 (GRCm39) |
D155E |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,203,019 (GRCm39) |
R534H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,992 (GRCm39) |
|
probably benign |
Het |
| Ube2m |
A |
G |
7: 12,771,562 (GRCm39) |
L32P |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,044,681 (GRCm39) |
F179I |
possibly damaging |
Het |
| Zfp961 |
T |
C |
8: 72,721,754 (GRCm39) |
*69Q |
probably null |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation