Incidental Mutation 'R8034:Asb3'
ID |
618141 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asb3
|
Ensembl Gene |
ENSMUSG00000020305 |
Gene Name |
ankyrin repeat and SOCS box-containing 3 |
Synonyms |
2400011J03Rik |
MMRRC Submission |
067471-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.428)
|
Stock # |
R8034 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 31031554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 391
(Y391*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020551]
[ENSMUST00000117883]
[ENSMUST00000137306]
[ENSMUST00000203878]
|
AlphaFold |
Q9WV72 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020551
AA Change: Y391*
|
SMART Domains |
Protein: ENSMUSP00000020551 Gene: ENSMUSG00000020305 AA Change: Y391*
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
5.29e0 |
SMART |
ANK
|
42 |
71 |
1.23e0 |
SMART |
ANK
|
78 |
107 |
7.3e-3 |
SMART |
ANK
|
111 |
140 |
2.66e-5 |
SMART |
ANK
|
145 |
174 |
2.73e-2 |
SMART |
ANK
|
178 |
207 |
2.81e-4 |
SMART |
ANK
|
211 |
240 |
1.88e-5 |
SMART |
ANK
|
246 |
276 |
1.6e2 |
SMART |
ANK
|
279 |
308 |
1.9e-1 |
SMART |
ANK
|
315 |
346 |
1.17e2 |
SMART |
SOCS_box
|
460 |
502 |
2.1e-13 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000117883
AA Change: Y391*
|
SMART Domains |
Protein: ENSMUSP00000113072 Gene: ENSMUSG00000020305 AA Change: Y391*
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
5.29e0 |
SMART |
ANK
|
42 |
71 |
1.23e0 |
SMART |
ANK
|
78 |
107 |
7.3e-3 |
SMART |
ANK
|
111 |
140 |
2.66e-5 |
SMART |
ANK
|
145 |
174 |
2.73e-2 |
SMART |
ANK
|
178 |
207 |
2.81e-4 |
SMART |
ANK
|
211 |
240 |
1.88e-5 |
SMART |
ANK
|
246 |
276 |
1.6e2 |
SMART |
ANK
|
279 |
308 |
1.9e-1 |
SMART |
ANK
|
315 |
346 |
1.17e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137306
|
SMART Domains |
Protein: ENSMUSP00000114692 Gene: ENSMUSG00000020305
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
5.29e0 |
SMART |
ANK
|
42 |
71 |
4.3e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000203878
AA Change: Y430*
|
SMART Domains |
Protein: ENSMUSP00000144900 Gene: ENSMUSG00000020305 AA Change: Y430*
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
ANK
|
48 |
77 |
3.5e-2 |
SMART |
ANK
|
81 |
110 |
8e-3 |
SMART |
ANK
|
117 |
146 |
4.8e-5 |
SMART |
ANK
|
150 |
179 |
1.7e-7 |
SMART |
ANK
|
184 |
213 |
1.8e-4 |
SMART |
ANK
|
217 |
246 |
1.8e-6 |
SMART |
ANK
|
250 |
279 |
1.2e-7 |
SMART |
ANK
|
285 |
315 |
1.1e0 |
SMART |
ANK
|
318 |
347 |
1.2e-3 |
SMART |
ANK
|
354 |
385 |
7.7e-1 |
SMART |
SOCS
|
493 |
542 |
2.8e-4 |
SMART |
SOCS_box
|
499 |
541 |
1.6e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap1 |
A |
G |
7: 101,043,980 (GRCm39) |
T680A |
probably damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc80 |
A |
G |
16: 44,943,238 (GRCm39) |
I783V |
probably damaging |
Het |
Ccnf |
A |
G |
17: 24,450,805 (GRCm39) |
V391A |
probably damaging |
Het |
Cd5l |
C |
A |
3: 87,273,271 (GRCm39) |
A80E |
possibly damaging |
Het |
Chmp2b |
A |
T |
16: 65,343,769 (GRCm39) |
M96K |
probably benign |
Het |
Cspg4b |
A |
T |
13: 113,479,045 (GRCm39) |
I1530F |
|
Het |
Dennd4a |
T |
C |
9: 64,795,850 (GRCm39) |
S725P |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,106,208 (GRCm39) |
N1843S |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,449,281 (GRCm39) |
F41L |
probably benign |
Het |
Eif3e |
A |
T |
15: 43,135,703 (GRCm39) |
M112K |
probably benign |
Het |
Faim |
T |
C |
9: 98,874,786 (GRCm39) |
V111A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,404,728 (GRCm39) |
E493G |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,819,699 (GRCm39) |
D5144G |
possibly damaging |
Het |
Fuz |
T |
C |
7: 44,545,684 (GRCm39) |
M1T |
probably null |
Het |
Ggcx |
T |
C |
6: 72,405,587 (GRCm39) |
V529A |
possibly damaging |
Het |
Gm7145 |
A |
T |
1: 117,913,894 (GRCm39) |
T259S |
probably benign |
Het |
Gria2 |
T |
G |
3: 80,709,006 (GRCm39) |
T59P |
probably damaging |
Het |
H2-Q10 |
A |
T |
17: 35,781,338 (GRCm39) |
I47F |
probably damaging |
Het |
Heatr6 |
A |
G |
11: 83,644,735 (GRCm39) |
N63D |
probably benign |
Het |
Ints7 |
CCGGATCG |
CCGGATCGGATCG |
1: 191,345,180 (GRCm39) |
|
probably null |
Het |
Ints7 |
GATCG |
GATCGTATCG |
1: 191,345,183 (GRCm39) |
|
probably null |
Het |
Lcn6 |
T |
A |
2: 25,566,883 (GRCm39) |
L19* |
probably null |
Het |
Lhcgr |
T |
C |
17: 89,049,784 (GRCm39) |
T581A |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,687,573 (GRCm39) |
I203T |
probably damaging |
Het |
Mctp1 |
G |
C |
13: 77,039,670 (GRCm39) |
L783F |
probably damaging |
Het |
Mlf1 |
A |
T |
3: 67,291,921 (GRCm39) |
M29L |
probably damaging |
Het |
Npas3 |
T |
A |
12: 53,687,312 (GRCm39) |
I159N |
probably damaging |
Het |
Nup98 |
T |
C |
7: 101,794,930 (GRCm39) |
|
probably null |
Het |
Or4a39 |
A |
G |
2: 89,237,081 (GRCm39) |
V114A |
probably benign |
Het |
Or4m1 |
T |
C |
14: 50,558,023 (GRCm39) |
K90E |
probably damaging |
Het |
Or51h5 |
A |
T |
7: 102,577,773 (GRCm39) |
K313* |
probably null |
Het |
Or5b110-ps1 |
A |
G |
19: 13,260,215 (GRCm39) |
F69S |
probably damaging |
Het |
Or7d11 |
A |
G |
9: 19,966,301 (GRCm39) |
F35L |
probably benign |
Het |
Or8b41 |
T |
C |
9: 38,054,973 (GRCm39) |
Y176H |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,623,111 (GRCm39) |
S377G |
probably benign |
Het |
Pclo |
T |
A |
5: 14,571,214 (GRCm39) |
S200T |
probably damaging |
Het |
Pex6 |
G |
C |
17: 47,033,325 (GRCm39) |
G616A |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,451,662 (GRCm39) |
H2211L |
possibly damaging |
Het |
Sec13 |
T |
C |
6: 113,712,050 (GRCm39) |
K95R |
probably benign |
Het |
Sema3c |
T |
C |
5: 17,932,480 (GRCm39) |
V661A |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
Sp140l2 |
T |
A |
1: 85,231,881 (GRCm39) |
T180S |
probably benign |
Het |
Sprr2h |
A |
T |
3: 92,294,120 (GRCm39) |
E61V |
unknown |
Het |
Tead3 |
A |
C |
17: 28,552,203 (GRCm39) |
V365G |
probably damaging |
Het |
Trpm7 |
T |
A |
2: 126,688,119 (GRCm39) |
N236I |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,191,167 (GRCm39) |
E13G |
probably benign |
Het |
Zfp639 |
C |
A |
3: 32,574,215 (GRCm39) |
A280E |
probably damaging |
Het |
|
Other mutations in Asb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02879:Asb3
|
APN |
11 |
31,051,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02932:Asb3
|
APN |
11 |
30,979,067 (GRCm39) |
critical splice donor site |
probably null |
|
Kickbox
|
UTSW |
11 |
30,948,326 (GRCm39) |
missense |
probably damaging |
1.00 |
low_blow
|
UTSW |
11 |
30,948,348 (GRCm39) |
nonsense |
probably null |
|
Octagon
|
UTSW |
11 |
30,948,321 (GRCm39) |
missense |
probably benign |
0.34 |
penalty
|
UTSW |
11 |
31,031,357 (GRCm39) |
splice site |
probably null |
|
sixpack
|
UTSW |
11 |
31,035,143 (GRCm39) |
missense |
probably benign |
|
R0573:Asb3
|
UTSW |
11 |
31,011,406 (GRCm39) |
missense |
probably damaging |
0.99 |
R1395:Asb3
|
UTSW |
11 |
31,051,032 (GRCm39) |
splice site |
probably benign |
|
R1545:Asb3
|
UTSW |
11 |
31,006,217 (GRCm39) |
missense |
probably benign |
0.00 |
R2108:Asb3
|
UTSW |
11 |
31,031,355 (GRCm39) |
splice site |
probably null |
|
R2364:Asb3
|
UTSW |
11 |
31,051,192 (GRCm39) |
missense |
probably benign |
0.01 |
R4527:Asb3
|
UTSW |
11 |
31,008,933 (GRCm39) |
missense |
probably benign |
0.30 |
R5019:Asb3
|
UTSW |
11 |
31,031,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5176:Asb3
|
UTSW |
11 |
31,031,357 (GRCm39) |
splice site |
probably null |
|
R5344:Asb3
|
UTSW |
11 |
31,051,114 (GRCm39) |
missense |
probably benign |
0.01 |
R5734:Asb3
|
UTSW |
11 |
30,979,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6251:Asb3
|
UTSW |
11 |
31,005,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R6265:Asb3
|
UTSW |
11 |
31,035,143 (GRCm39) |
missense |
probably benign |
|
R6747:Asb3
|
UTSW |
11 |
31,031,493 (GRCm39) |
missense |
probably benign |
0.01 |
R6827:Asb3
|
UTSW |
11 |
31,051,211 (GRCm39) |
missense |
probably benign |
0.00 |
R6928:Asb3
|
UTSW |
11 |
30,948,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7048:Asb3
|
UTSW |
11 |
31,051,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R7087:Asb3
|
UTSW |
11 |
30,948,321 (GRCm39) |
missense |
probably benign |
0.34 |
R7135:Asb3
|
UTSW |
11 |
30,948,501 (GRCm39) |
nonsense |
probably null |
|
R7165:Asb3
|
UTSW |
11 |
30,979,029 (GRCm39) |
missense |
probably damaging |
0.99 |
R7200:Asb3
|
UTSW |
11 |
30,948,348 (GRCm39) |
nonsense |
probably null |
|
R7265:Asb3
|
UTSW |
11 |
30,948,495 (GRCm39) |
missense |
probably benign |
0.02 |
R7509:Asb3
|
UTSW |
11 |
30,948,507 (GRCm39) |
missense |
probably benign |
0.12 |
R7674:Asb3
|
UTSW |
11 |
31,031,435 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8029:Asb3
|
UTSW |
11 |
31,051,180 (GRCm39) |
nonsense |
probably null |
|
R8061:Asb3
|
UTSW |
11 |
30,948,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Asb3
|
UTSW |
11 |
31,051,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R8952:Asb3
|
UTSW |
11 |
31,008,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Asb3
|
UTSW |
11 |
30,978,962 (GRCm39) |
missense |
probably benign |
0.34 |
R9381:Asb3
|
UTSW |
11 |
31,051,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Asb3
|
UTSW |
11 |
31,051,075 (GRCm39) |
missense |
probably benign |
0.03 |
R9711:Asb3
|
UTSW |
11 |
31,031,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R9716:Asb3
|
UTSW |
11 |
31,031,460 (GRCm39) |
missense |
probably benign |
0.03 |
R9747:Asb3
|
UTSW |
11 |
31,008,946 (GRCm39) |
missense |
possibly damaging |
0.69 |
RF016:Asb3
|
UTSW |
11 |
31,011,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0024:Asb3
|
UTSW |
11 |
31,008,950 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Asb3
|
UTSW |
11 |
31,008,965 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGTAAAAGCCATTGGTTATACC -3'
(R):5'- GTCAATACTCTCACGCAATGCAG -3'
Sequencing Primer
(F):5'- ACCAAGTGCTATTTTCATTTCCAG -3'
(R):5'- CTCTCACGCAATGCAGATATGGTG -3'
|
Posted On |
2020-01-23 |