Incidental Mutation 'R9559:Asb14'
| ID |
720930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb14
|
| Ensembl Gene |
ENSMUSG00000021898 |
| Gene Name |
ankyrin repeat and SOCS box-containing 14 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R9559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26616514-26637215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26637052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 598
(V598A)
|
| 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: V598A
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: V598A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,021,019 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,749,782 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
A |
T |
18: 61,640,267 (GRCm39) |
|
probably null |
Het |
| Baz1b |
T |
A |
5: 135,216,532 (GRCm39) |
F10Y |
probably benign |
Het |
| Bbc3 |
T |
C |
7: 16,047,660 (GRCm39) |
V128A |
probably benign |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,939,459 (GRCm39) |
|
probably null |
Het |
| Cfh |
G |
T |
1: 140,030,275 (GRCm39) |
P884Q |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,613,086 (GRCm39) |
Y479C |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,913,630 (GRCm39) |
G477E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Csmd2 |
G |
T |
4: 128,438,561 (GRCm39) |
G3047C |
|
Het |
| Cyb5r3 |
C |
A |
15: 83,043,123 (GRCm39) |
E190* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,650,951 (GRCm39) |
V983D |
probably benign |
Het |
| Fcer1a |
T |
G |
1: 173,052,884 (GRCm39) |
Y104S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,429,759 (GRCm39) |
T169A |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,655,134 (GRCm39) |
K240N |
probably benign |
Het |
| Gmeb1 |
A |
C |
4: 131,953,140 (GRCm39) |
V542G |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,895,535 (GRCm39) |
R318L |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,528,793 (GRCm39) |
I279K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm4b |
T |
C |
17: 56,693,228 (GRCm39) |
L355P |
probably damaging |
Het |
| Kif26a |
C |
T |
12: 112,142,004 (GRCm39) |
R753W |
probably damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,178 (GRCm39) |
T33I |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,129,009 (GRCm39) |
|
probably null |
Het |
| Mov10 |
A |
G |
3: 104,708,277 (GRCm39) |
F491L |
|
Het |
| Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
| Nck2 |
T |
C |
1: 43,593,207 (GRCm39) |
V138A |
probably damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,509 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or5ac24 |
C |
A |
16: 59,165,368 (GRCm39) |
G232V |
probably damaging |
Het |
| Or5ak24 |
A |
C |
2: 85,260,753 (GRCm39) |
V140G |
possibly damaging |
Het |
| Or7e173 |
A |
G |
9: 19,939,216 (GRCm39) |
V6A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,882,027 (GRCm39) |
V39A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,899,017 (GRCm39) |
H998R |
probably damaging |
Het |
| Prb1a |
G |
A |
6: 132,184,388 (GRCm39) |
S415F |
unknown |
Het |
| Prl3d1 |
C |
T |
13: 27,280,470 (GRCm39) |
T73I |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,137,921 (GRCm39) |
L250P |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,779,773 (GRCm39) |
I580T |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,585,041 (GRCm39) |
Q14L |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,587,686 (GRCm39) |
N423Y |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,473,056 (GRCm39) |
S951T |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,954,926 (GRCm39) |
P195S |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,498 (GRCm39) |
F272S |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,358,053 (GRCm39) |
I454F |
probably benign |
Het |
| Zfp112 |
G |
T |
7: 23,826,108 (GRCm39) |
C696F |
probably damaging |
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 |
|
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 |
|
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'- CATTTGCCAACTAAACCCTCGG -3'
(R):5'- ACAGGTCATAGGGAGGTATCC -3'
Sequencing Primer
(F):5'- CTAAACCCTCGGCTCACC -3'
(R):5'- CACAGAACACGCTTTTTAAACAATG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation