Incidental Mutation 'R6251:Asb3'
| ID |
506236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb3
|
| Ensembl Gene |
ENSMUSG00000020305 |
| Gene Name |
ankyrin repeat and SOCS box-containing 3 |
| Synonyms |
2400011J03Rik |
| MMRRC Submission |
044368-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.428)
|
| Stock # |
R6251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31005559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 192
(A192T)
|
| 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: A153T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: A153T
| 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 damaging
Transcript: ENSMUST00000117883
AA Change: A153T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: A153T
| 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: A192T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: A192T
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,445 (GRCm39) |
S36P |
probably damaging |
Het |
| Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
| Arhgap26 |
A |
T |
18: 39,490,880 (GRCm39) |
S328C |
probably null |
Het |
| Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,126,573 (GRCm39) |
M1110L |
possibly damaging |
Het |
| Cacna1i |
T |
C |
15: 80,220,883 (GRCm39) |
I175T |
probably damaging |
Het |
| Car15 |
A |
T |
16: 17,655,227 (GRCm39) |
I71N |
probably benign |
Het |
| Casq1 |
T |
A |
1: 172,044,407 (GRCm39) |
Y140F |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,362,269 (GRCm39) |
T17M |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,323 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,558,094 (GRCm39) |
V170D |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,038,917 (GRCm39) |
D224G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Daglb |
T |
A |
5: 143,475,689 (GRCm39) |
L383Q |
probably damaging |
Het |
| Dazap2 |
T |
G |
15: 100,514,864 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,068,905 (GRCm39) |
D40V |
probably benign |
Het |
| Dynlt2b |
T |
A |
16: 32,245,727 (GRCm39) |
D125E |
possibly damaging |
Het |
| Epn1 |
G |
T |
7: 5,098,925 (GRCm39) |
D406Y |
probably damaging |
Het |
| Epn1 |
G |
T |
7: 5,098,935 (GRCm39) |
R409L |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,457,843 (GRCm39) |
T966A |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,314,375 (GRCm39) |
D269G |
probably damaging |
Het |
| Gfra3 |
TGCGC |
TGC |
18: 34,828,864 (GRCm39) |
|
probably null |
Het |
| Gpr87 |
A |
T |
3: 59,086,528 (GRCm39) |
F326I |
probably damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,137 (GRCm39) |
P151H |
probably damaging |
Het |
| Kcnj14 |
T |
A |
7: 45,467,440 (GRCm39) |
E302V |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 921,693 (GRCm39) |
Y534H |
probably damaging |
Homo |
| Map3k5 |
T |
A |
10: 20,014,006 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
A |
G |
4: 32,748,590 (GRCm39) |
T4212A |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,504 (GRCm39) |
S122R |
probably damaging |
Het |
| Mtarc1 |
G |
A |
1: 184,527,648 (GRCm39) |
R271W |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,215,513 (GRCm39) |
H76Q |
probably damaging |
Het |
| Notch1 |
C |
A |
2: 26,364,182 (GRCm39) |
E846D |
possibly damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,534 (GRCm39) |
S164P |
probably benign |
Het |
| Or4a67 |
T |
C |
2: 88,598,632 (GRCm39) |
E9G |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TT |
TTGCTGTGT |
9: 37,937,844 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
GGGATTGC |
9: 37,937,833 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TGTTT |
TGTTTGCAGTTT |
9: 37,937,841 (GRCm39) |
|
probably null |
Het |
| Or8g18 |
T |
A |
9: 39,149,514 (GRCm39) |
I72F |
possibly damaging |
Het |
| Pfkl |
C |
T |
10: 77,825,399 (GRCm39) |
|
probably null |
Het |
| Pigz |
T |
C |
16: 31,764,424 (GRCm39) |
V494A |
possibly damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,531,247 (GRCm39) |
V516A |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,496,141 (GRCm39) |
R1104K |
probably benign |
Het |
| Rap1a |
A |
T |
3: 105,639,311 (GRCm39) |
L116* |
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,356,649 (GRCm39) |
*230R |
probably null |
Het |
| Rtl1 |
G |
T |
12: 109,560,083 (GRCm39) |
N585K |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,802,795 (GRCm39) |
R110I |
possibly damaging |
Het |
| Spink6 |
T |
C |
18: 44,207,498 (GRCm39) |
|
probably null |
Het |
| Spopfm1 |
G |
T |
3: 94,173,208 (GRCm39) |
S72I |
probably damaging |
Het |
| Stk39 |
A |
T |
2: 68,137,383 (GRCm39) |
|
probably null |
Het |
| Tcstv2a |
T |
C |
13: 120,724,907 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
T |
17: 45,846,085 (GRCm39) |
T230S |
probably benign |
Het |
| Tecpr1 |
C |
A |
5: 144,135,394 (GRCm39) |
V1020L |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,160,261 (GRCm39) |
Y192C |
possibly damaging |
Het |
| Trim63 |
A |
T |
4: 134,050,537 (GRCm39) |
T274S |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,957,048 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
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 |
|
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'- ACATGGAGGCCTACACATATACAAG -3'
(R):5'- TGCTCCAGCCACTATAACAG -3'
Sequencing Primer
(F):5'- GCCTACACATATACAAGTAAAACTGG -3'
(R):5'- GCCACTATAACAGCTGACTTATTTAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation