Incidental Mutation 'IGL02879:Asb3'
| ID |
362735 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb3
|
| Ensembl Gene |
ENSMUSG00000020305 |
| Gene Name |
ankyrin repeat and SOCS box-containing 3 |
| Synonyms |
2400011J03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.428)
|
| Stock # |
IGL02879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31051067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 507
(R507H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020551]
[ENSMUST00000137306]
[ENSMUST00000203878]
|
| AlphaFold |
Q9WV72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020551
AA Change: R468H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: R468H
| 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 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 damaging
Transcript: ENSMUST00000203878
AA Change: R507H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: R507H
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,659,966 (GRCm39) |
Y245C |
probably damaging |
Het |
| Cacna1g |
A |
C |
11: 94,300,431 (GRCm39) |
I2118S |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,380,119 (GRCm39) |
|
probably benign |
Het |
| Ecscr |
T |
C |
18: 35,846,731 (GRCm39) |
N221S |
possibly damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,841 (GRCm39) |
D231G |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,341 (GRCm39) |
Y750H |
probably damaging |
Het |
| Gm42688 |
A |
G |
6: 83,084,125 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gtse1 |
T |
C |
15: 85,753,264 (GRCm39) |
|
probably benign |
Het |
| Il4ra |
A |
G |
7: 125,176,069 (GRCm39) |
E759G |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,885,178 (GRCm39) |
D1019G |
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 191,959,223 (GRCm39) |
V259A |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,965,270 (GRCm39) |
L15F |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,993,422 (GRCm39) |
T1686S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,146,697 (GRCm39) |
L2856V |
possibly damaging |
Het |
| Nkapd1 |
C |
T |
9: 50,520,671 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,498,796 (GRCm39) |
C1568S |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,798,157 (GRCm39) |
K352I |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,467,811 (GRCm39) |
D339G |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,534,054 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,163,873 (GRCm39) |
D847G |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,101,383 (GRCm39) |
T89I |
probably damaging |
Het |
| Runx1t1 |
T |
C |
4: 13,889,868 (GRCm39) |
I599T |
unknown |
Het |
| Serinc3 |
A |
G |
2: 163,474,172 (GRCm39) |
|
probably benign |
Het |
| Slc27a5 |
C |
T |
7: 12,728,971 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
C |
T |
8: 107,803,329 (GRCm39) |
S417N |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,325,612 (GRCm39) |
V500A |
probably damaging |
Het |
| Upk1b |
G |
A |
16: 38,596,640 (GRCm39) |
|
probably benign |
Het |
| Vmn1r81 |
C |
T |
7: 11,994,319 (GRCm39) |
M96I |
probably benign |
Het |
| Vmn2r11 |
A |
T |
5: 109,201,704 (GRCm39) |
Y267N |
possibly damaging |
Het |
|
| Other mutations in Asb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation