Incidental Mutation 'R9415:Asb14'
| ID |
712015 |
| 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 # |
R9415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26616514-26637215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26633793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 333
(T333S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090337]
[ENSMUST00000165929]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090337
AA Change: T333S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: T333S
| 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 damaging
Transcript: ENSMUST00000165929
AA Change: T333S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: T333S
| 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: 99.6%
- 20x: 98.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,476,598 (GRCm39) |
M1340T |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,842,233 (GRCm39) |
L457P |
probably damaging |
Het |
| Arih2 |
A |
T |
9: 108,486,986 (GRCm39) |
C317S |
probably damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,227,821 (GRCm39) |
N1012S |
|
Het |
| Capn9 |
C |
A |
8: 125,332,449 (GRCm39) |
D429E |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cntrob |
C |
T |
11: 69,193,741 (GRCm39) |
R803Q |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,029,297 (GRCm39) |
I4089V |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,155 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,102,244 (GRCm39) |
D180G |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,723,966 (GRCm39) |
S589P |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,673,912 (GRCm39) |
L558P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,586 (GRCm39) |
I5170T |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,008,319 (GRCm39) |
F251L |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,802,336 (GRCm39) |
D220E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,444,480 (GRCm39) |
F519I |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,337,001 (GRCm39) |
M8V |
probably benign |
Het |
| Mical3 |
T |
A |
6: 120,934,712 (GRCm39) |
D1789V |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,235,905 (GRCm39) |
Q1211* |
probably null |
Het |
| Myd88 |
A |
G |
9: 119,167,070 (GRCm39) |
|
probably null |
Het |
| Myof |
T |
A |
19: 37,941,412 (GRCm39) |
K799N |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,488 (GRCm39) |
T71A |
probably benign |
Het |
| Omd |
A |
C |
13: 49,745,837 (GRCm39) |
M416L |
probably benign |
Het |
| Oog1 |
G |
C |
12: 87,655,086 (GRCm39) |
L411F |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,042 (GRCm39) |
W161R |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or56a5 |
T |
G |
7: 104,793,498 (GRCm39) |
M7L |
probably benign |
Het |
| Or7e171-ps1 |
A |
G |
9: 19,853,200 (GRCm39) |
W179R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,660,468 (GRCm39) |
Q670R |
possibly damaging |
Het |
| Pex13 |
C |
A |
11: 23,601,034 (GRCm39) |
G272V |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,824,081 (GRCm39) |
V769D |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,968,332 (GRCm39) |
Y10C |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,013,378 (GRCm39) |
H500R |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,645,882 (GRCm39) |
T496A |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,184,166 (GRCm39) |
S459G |
probably benign |
Het |
| Serpinb6b |
A |
T |
13: 33,159,002 (GRCm39) |
M187L |
|
Het |
| Shcbp1l |
A |
G |
1: 153,321,627 (GRCm39) |
I408M |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,967 (GRCm39) |
V272A |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,746,160 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,550,064 (GRCm39) |
N774I |
|
Het |
| Urb2 |
T |
A |
8: 124,756,613 (GRCm39) |
S773R |
possibly damaging |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,115 (GRCm39) |
V185E |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,796,527 (GRCm39) |
V3691G |
|
Het |
| Wdtc1 |
A |
G |
4: 133,022,684 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,851,527 (GRCm39) |
M182L |
probably damaging |
Het |
| Zfp747 |
T |
C |
7: 126,973,198 (GRCm39) |
H324R |
possibly 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 |
|
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'- TGACTGCCGCTAATTCAGAG -3'
(R):5'- ACAAGGCTGACTTCCGTTG -3'
Sequencing Primer
(F):5'- GCCGCTAATTCAGAGTTTTTAACC -3'
(R):5'- AAGGCTGACTTCCGTTGATCATC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation