Incidental Mutation 'R0573:Asb3'
ID |
46541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asb3
|
Ensembl Gene |
ENSMUSG00000020305 |
Gene Name |
ankyrin repeat and SOCS box-containing 3 |
Synonyms |
2400011J03Rik |
MMRRC Submission |
038763-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.459)
|
Stock # |
R0573 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31011406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 306
(I306K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020551]
[ENSMUST00000117883]
[ENSMUST00000137306]
[ENSMUST00000203878]
|
AlphaFold |
Q9WV72 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020551
AA Change: I267K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020551 Gene: ENSMUSG00000020305 AA Change: I267K
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 |
possibly damaging
Transcript: ENSMUST00000117883
AA Change: I267K
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113072 Gene: ENSMUSG00000020305 AA Change: I267K
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 |
noncoding transcript
Transcript: ENSMUST00000148808
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203878
AA Change: I306K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144900 Gene: ENSMUSG00000020305 AA Change: I306K
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 |
|
Meta Mutation Damage Score |
0.7716 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,455,278 (GRCm39) |
K698N |
possibly damaging |
Het |
Adcy8 |
A |
T |
15: 64,694,044 (GRCm39) |
V411D |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,475,036 (GRCm39) |
E1550V |
probably damaging |
Het |
Asic4 |
T |
A |
1: 75,445,746 (GRCm39) |
|
probably benign |
Het |
Basp1 |
G |
T |
15: 25,364,948 (GRCm39) |
D16E |
unknown |
Het |
Cbll1 |
A |
T |
12: 31,540,539 (GRCm39) |
I123N |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,869,837 (GRCm39) |
H889Q |
probably benign |
Het |
Ccdc65 |
T |
C |
15: 98,618,930 (GRCm39) |
V303A |
probably benign |
Het |
Ceacam20 |
T |
A |
7: 19,720,593 (GRCm39) |
M60K |
probably damaging |
Het |
Chd9 |
T |
A |
8: 91,725,223 (GRCm39) |
V711D |
probably damaging |
Het |
Clcn1 |
T |
A |
6: 42,289,979 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,962,268 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
C |
A |
1: 82,694,084 (GRCm39) |
P1568Q |
possibly damaging |
Het |
Colec12 |
C |
A |
18: 9,858,650 (GRCm39) |
P478T |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,407,985 (GRCm39) |
H1949R |
probably damaging |
Het |
Dgka |
A |
G |
10: 128,572,876 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
A |
G |
2: 156,588,111 (GRCm39) |
I669V |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,412,298 (GRCm39) |
D543E |
probably benign |
Het |
Egflam |
A |
T |
15: 7,271,906 (GRCm39) |
C677* |
probably null |
Het |
Eml5 |
A |
C |
12: 98,791,031 (GRCm39) |
|
probably null |
Het |
Fbn1 |
G |
A |
2: 125,231,169 (GRCm39) |
R466C |
probably damaging |
Het |
Fnbp1 |
C |
A |
2: 30,948,990 (GRCm39) |
D198Y |
probably damaging |
Het |
Gfra3 |
T |
A |
18: 34,824,668 (GRCm39) |
M272L |
probably benign |
Het |
Gm5422 |
T |
A |
10: 31,126,156 (GRCm39) |
|
noncoding transcript |
Het |
Gpr21 |
T |
A |
2: 37,407,556 (GRCm39) |
I34N |
probably damaging |
Het |
Hspb2 |
G |
T |
9: 50,662,664 (GRCm39) |
T155K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,224,457 (GRCm39) |
T24A |
probably benign |
Het |
Mmadhc |
T |
A |
2: 50,182,847 (GRCm39) |
H43L |
possibly damaging |
Het |
Morn1 |
T |
A |
4: 155,195,473 (GRCm39) |
D278E |
possibly damaging |
Het |
Myoc |
T |
C |
1: 162,476,243 (GRCm39) |
Y316H |
probably damaging |
Het |
Nags |
A |
G |
11: 102,037,805 (GRCm39) |
D266G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,142 (GRCm39) |
N115S |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,117,056 (GRCm39) |
I260N |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,926,905 (GRCm39) |
R6190C |
probably damaging |
Het |
Or5b24 |
T |
C |
19: 12,912,624 (GRCm39) |
V174A |
possibly damaging |
Het |
Or5be3 |
A |
G |
2: 86,863,812 (GRCm39) |
F251S |
probably damaging |
Het |
Orc4 |
C |
T |
2: 48,807,285 (GRCm39) |
M215I |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,420,735 (GRCm39) |
H770L |
probably damaging |
Het |
Otogl |
A |
C |
10: 107,616,849 (GRCm39) |
N1809K |
probably benign |
Het |
Pde3a |
G |
T |
6: 141,437,957 (GRCm39) |
V1009L |
probably damaging |
Het |
Pign |
T |
C |
1: 105,580,902 (GRCm39) |
Y159C |
probably damaging |
Het |
Pik3cg |
C |
A |
12: 32,247,196 (GRCm39) |
M842I |
probably damaging |
Het |
Pnliprp1 |
C |
T |
19: 58,723,314 (GRCm39) |
T235I |
possibly damaging |
Het |
Pramel17 |
A |
C |
4: 101,692,611 (GRCm39) |
V463G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,480 (GRCm39) |
N239D |
probably damaging |
Het |
Psd2 |
T |
A |
18: 36,113,546 (GRCm39) |
|
probably benign |
Het |
Ptprt |
T |
C |
2: 161,393,668 (GRCm39) |
D1251G |
probably damaging |
Het |
Pwp2 |
G |
A |
10: 78,018,520 (GRCm39) |
S88L |
probably benign |
Het |
Rassf4 |
C |
T |
6: 116,624,516 (GRCm39) |
|
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,380,684 (GRCm39) |
S884P |
probably damaging |
Het |
Rgs20 |
C |
A |
1: 5,091,037 (GRCm39) |
R131L |
possibly damaging |
Het |
Setd4 |
A |
G |
16: 93,386,834 (GRCm39) |
V288A |
probably benign |
Het |
Stx3 |
G |
T |
19: 11,763,110 (GRCm39) |
T160K |
probably damaging |
Het |
Tas2r102 |
T |
A |
6: 132,739,636 (GRCm39) |
S181R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 49,127,434 (GRCm39) |
|
probably benign |
Het |
Tmem33 |
T |
C |
5: 67,421,603 (GRCm39) |
|
probably benign |
Het |
Trim33 |
A |
G |
3: 103,259,306 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
G |
12: 101,853,119 (GRCm39) |
I491T |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,058,653 (GRCm39) |
|
probably benign |
Het |
Tuba4a |
T |
C |
1: 75,193,017 (GRCm39) |
D199G |
probably benign |
Het |
Zcchc4 |
A |
G |
5: 52,953,321 (GRCm39) |
Y110C |
probably damaging |
Het |
Zp2 |
C |
T |
7: 119,734,693 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8034:Asb3
|
UTSW |
11 |
31,031,554 (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'- TTGTAGCAGCTCTGAAGCATGTAGAC -3'
(R):5'- CATGCACAGAGGGGAACTGAATCC -3'
Sequencing Primer
(F):5'- ggctgtcctggaactcac -3'
(R):5'- AGGGGAACTGAATCCAAATACC -3'
|
Posted On |
2013-06-11 |