Incidental Mutation 'R1545:Asb3'
| ID |
172126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb3
|
| Ensembl Gene |
ENSMUSG00000020305 |
| Gene Name |
ankyrin repeat and SOCS box-containing 3 |
| Synonyms |
2400011J03Rik |
| MMRRC Submission |
039584-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
R1545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31006217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 234
(M234K)
|
| 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
AA Change: M195K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: M195K
| 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
AA Change: M195K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: M195K
| 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 benign
Transcript: ENSMUST00000203878
AA Change: M234K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: M234K
| 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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,641 (GRCm39) |
R410H |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,370 (GRCm39) |
C1468R |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,231 (GRCm39) |
I97N |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Bax |
A |
C |
7: 45,111,357 (GRCm39) |
H168Q |
probably null |
Het |
| Brinp1 |
A |
G |
4: 68,681,192 (GRCm39) |
L446P |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,373 (GRCm39) |
|
probably null |
Het |
| Cfap299 |
C |
A |
5: 98,477,291 (GRCm39) |
Q27K |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,250,146 (GRCm39) |
I168F |
probably damaging |
Het |
| Crkl |
A |
T |
16: 17,301,556 (GRCm39) |
N270I |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,962,479 (GRCm39) |
E37K |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,169,526 (GRCm39) |
T112I |
probably benign |
Het |
| F5 |
C |
T |
1: 164,036,529 (GRCm39) |
R1897* |
probably null |
Het |
| Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,573,261 (GRCm39) |
S896N |
probably damaging |
Het |
| Gprc5a |
C |
A |
6: 135,060,459 (GRCm39) |
T316K |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,019 (GRCm39) |
L2299Q |
possibly damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,942 (GRCm39) |
P240R |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,906,318 (GRCm39) |
T69A |
probably damaging |
Het |
| Kptn |
C |
G |
7: 15,857,888 (GRCm39) |
Q239E |
probably benign |
Het |
| Lep |
T |
C |
6: 29,070,831 (GRCm39) |
S52P |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,844,416 (GRCm39) |
V627M |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,499,745 (GRCm39) |
K615E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,061,876 (GRCm39) |
R792C |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,489,717 (GRCm39) |
V58A |
possibly damaging |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,129,111 (GRCm39) |
I375F |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,823,993 (GRCm39) |
T449A |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,087 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Or8b1b |
C |
A |
9: 38,375,815 (GRCm39) |
H159Q |
probably benign |
Het |
| Otub1 |
T |
C |
19: 7,176,571 (GRCm39) |
I188V |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,186 (GRCm39) |
I722T |
possibly damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,646 (GRCm39) |
D292E |
probably damaging |
Het |
| Peli2 |
T |
A |
14: 48,490,174 (GRCm39) |
D215E |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,156,242 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,725 (GRCm39) |
K136R |
possibly damaging |
Het |
| Prpf3 |
T |
C |
3: 95,755,115 (GRCm39) |
K157E |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,336 (GRCm39) |
S160P |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,216,774 (GRCm39) |
V2251A |
probably damaging |
Het |
| Rgs6 |
G |
A |
12: 83,162,951 (GRCm39) |
E386K |
probably damaging |
Het |
| Rida |
A |
G |
15: 34,495,250 (GRCm39) |
I5T |
probably benign |
Het |
| Rpe |
A |
G |
1: 66,740,169 (GRCm39) |
H35R |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,868,771 (GRCm39) |
D321E |
probably benign |
Het |
| Slc22a13 |
G |
A |
9: 119,038,113 (GRCm39) |
A5V |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,218,926 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
A |
2: 128,437,632 (GRCm39) |
N220K |
probably benign |
Het |
| Sult1c2 |
G |
T |
17: 54,269,176 (GRCm39) |
A280E |
possibly damaging |
Het |
| Tfr2 |
A |
G |
5: 137,581,561 (GRCm39) |
E579G |
probably benign |
Het |
| Tmem221 |
A |
G |
8: 72,011,182 (GRCm39) |
L91P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,317 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,603 (GRCm39) |
R186G |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,565 (GRCm39) |
V253A |
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 |
|
|
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'- GCCCCTTCTGCTTGAGTTAGCAAAC -3'
(R):5'- GCTGAACCCTTCAGGTCAGACAATG -3'
Sequencing Primer
(F):5'- GTTAGCAAACTGACTTTGCAGGAC -3'
(R):5'- GACATAGTCACACAATCTTTTTGGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation