Incidental Mutation 'R7087:Asb3'
ID |
549965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asb3
|
Ensembl Gene |
ENSMUSG00000020305 |
Gene Name |
ankyrin repeat and SOCS box-containing 3 |
Synonyms |
2400011J03Rik |
MMRRC Submission |
045181-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.428)
|
Stock # |
R7087 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 30948321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 38
(K38T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020551]
[ENSMUST00000117883]
[ENSMUST00000137306]
[ENSMUST00000203878]
|
AlphaFold |
Q9WV72 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020551
|
SMART Domains |
Protein: ENSMUSP00000020551 Gene: ENSMUSG00000020305
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: ENSMUST00000117883
|
SMART Domains |
Protein: ENSMUSP00000113072 Gene: ENSMUSG00000020305
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 benign
Transcript: ENSMUST00000203878
AA Change: K38T
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144900 Gene: ENSMUSG00000020305 AA Change: K38T
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 |
0.0736 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
A |
7: 119,373,870 (GRCm39) |
V252D |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,271,856 (GRCm39) |
L1634P |
probably damaging |
Het |
Arhgef4 |
A |
T |
1: 34,850,767 (GRCm39) |
R438W |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,074,269 (GRCm39) |
L328Q |
probably damaging |
Het |
BC030500 |
T |
A |
8: 59,365,388 (GRCm39) |
I13N |
unknown |
Het |
Cbarp |
A |
G |
10: 79,972,242 (GRCm39) |
S136P |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,343,988 (GRCm39) |
D910E |
probably benign |
Het |
Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,227,483 (GRCm39) |
V2535A |
probably benign |
Het |
Ddx39b |
C |
T |
17: 35,472,025 (GRCm39) |
R355C |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,543 (GRCm39) |
T338A |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,496,595 (GRCm39) |
D147G |
probably damaging |
Het |
Eif3i |
G |
T |
4: 129,486,104 (GRCm39) |
H284Q |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,779,650 (GRCm39) |
L42Q |
probably null |
Het |
Exoc3l2 |
A |
G |
7: 19,203,582 (GRCm39) |
E58G |
|
Het |
Fgf18 |
C |
T |
11: 33,074,677 (GRCm39) |
R98Q |
probably damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gp2 |
T |
A |
7: 119,049,455 (GRCm39) |
T361S |
probably damaging |
Het |
Gtsf1 |
A |
T |
15: 103,333,876 (GRCm39) |
H33Q |
probably damaging |
Het |
Hoxa4 |
G |
A |
6: 52,168,271 (GRCm39) |
T133M |
probably damaging |
Het |
Hspb7 |
C |
A |
4: 141,149,866 (GRCm39) |
T84K |
possibly damaging |
Het |
Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
Kdm7a |
C |
T |
6: 39,152,315 (GRCm39) |
R127H |
probably benign |
Het |
Lsm10 |
C |
T |
4: 125,991,952 (GRCm39) |
R103C |
probably damaging |
Het |
Mgme1 |
T |
C |
2: 144,114,101 (GRCm39) |
S68P |
probably damaging |
Het |
Nes |
G |
T |
3: 87,887,065 (GRCm39) |
V1775L |
probably benign |
Het |
Nfrkb |
C |
T |
9: 31,331,228 (GRCm39) |
Q1250* |
probably null |
Het |
Or4s2 |
T |
C |
2: 88,473,197 (GRCm39) |
F29L |
probably damaging |
Het |
Phf21b |
A |
T |
15: 84,676,033 (GRCm39) |
L338H |
probably damaging |
Het |
Pira12 |
G |
A |
7: 3,900,218 (GRCm39) |
A128V |
probably benign |
Het |
Ppp2r5b |
A |
G |
19: 6,282,580 (GRCm39) |
V190A |
possibly damaging |
Het |
Prmt1 |
T |
C |
7: 44,631,007 (GRCm39) |
|
probably null |
Het |
Rusc1 |
A |
G |
3: 88,996,799 (GRCm39) |
V639A |
probably damaging |
Het |
Slc24a2 |
T |
A |
4: 86,909,456 (GRCm39) |
|
probably null |
Het |
Slc39a10 |
T |
C |
1: 46,874,880 (GRCm39) |
T141A |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,002,076 (GRCm39) |
M69L |
probably benign |
Het |
St8sia5 |
A |
C |
18: 77,342,238 (GRCm39) |
Q316P |
possibly damaging |
Het |
Svs3a |
T |
C |
2: 164,131,717 (GRCm39) |
I96T |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,492,024 (GRCm39) |
|
probably benign |
Het |
Trappc3 |
T |
C |
4: 126,166,474 (GRCm39) |
S16P |
probably benign |
Het |
Vmn2r44 |
A |
T |
7: 8,381,366 (GRCm39) |
F176I |
probably benign |
Het |
Wnk1 |
C |
T |
6: 120,014,491 (GRCm39) |
E35K |
possibly damaging |
Het |
Zfp354c |
A |
G |
11: 50,706,040 (GRCm39) |
L345P |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,032,469 (GRCm39) |
K490N |
probably damaging |
Het |
Zfp687 |
A |
C |
3: 94,917,524 (GRCm39) |
S709A |
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 |
|
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 |
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'- GCCTGCTGGAAAGATCTGACAG -3'
(R):5'- ACAGCATTGTGATAAGCTGCTTC -3'
Sequencing Primer
(F):5'- TCTGACAGACATTTTCAGAGGG -3'
(R):5'- AAGCTGCTTCATGAATCGGC -3'
|
Posted On |
2019-05-15 |