Incidental Mutation 'R3053:Asb18'
| ID |
265017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb18
|
| Ensembl Gene |
ENSMUSG00000067081 |
| Gene Name |
ankyrin repeat and SOCS box-containing 18 |
| Synonyms |
|
| MMRRC Submission |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
89880313-89942388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89920707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 149
(H149L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086882]
[ENSMUST00000097656]
[ENSMUST00000151330]
[ENSMUST00000154228]
|
| AlphaFold |
Q8VHA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086882
AA Change: H190L
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: H190L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
3e-8 |
BLAST |
|
ANK
|
119 |
148 |
5.32e-5 |
SMART |
|
ANK
|
151 |
180 |
1.99e-4 |
SMART |
|
ANK
|
184 |
213 |
3.26e2 |
SMART |
|
ANK
|
218 |
247 |
3.95e1 |
SMART |
|
ANK
|
251 |
289 |
1.96e3 |
SMART |
|
ANK
|
293 |
322 |
6.61e-1 |
SMART |
|
Blast:ANK
|
329 |
365 |
1e-12 |
BLAST |
|
SOCS_box
|
422 |
461 |
4.5e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097656
|
| SMART Domains |
Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
1e-8 |
BLAST |
|
SOCS_box
|
158 |
197 |
4.5e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151330
|
| SMART Domains |
Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154228
AA Change: H149L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081
AA Change: H149L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
9e-9 |
BLAST |
|
ANK
|
78 |
107 |
5.32e-5 |
SMART |
|
ANK
|
110 |
139 |
1.99e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.3537 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
Het |
|
| Other mutations in Asb18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Asb18
|
APN |
1 |
89,923,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01559:Asb18
|
APN |
1 |
89,882,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Asb18
|
APN |
1 |
89,924,021 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02378:Asb18
|
APN |
1 |
89,920,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02543:Asb18
|
APN |
1 |
89,942,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02828:Asb18
|
APN |
1 |
89,923,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02877:Asb18
|
APN |
1 |
89,880,533 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03290:Asb18
|
APN |
1 |
89,942,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0560:Asb18
|
UTSW |
1 |
89,942,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Asb18
|
UTSW |
1 |
89,920,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Asb18
|
UTSW |
1 |
89,924,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Asb18
|
UTSW |
1 |
89,924,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Asb18
|
UTSW |
1 |
89,923,976 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1721:Asb18
|
UTSW |
1 |
89,896,302 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1793:Asb18
|
UTSW |
1 |
89,942,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Asb18
|
UTSW |
1 |
89,942,104 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2171:Asb18
|
UTSW |
1 |
89,896,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Asb18
|
UTSW |
1 |
89,942,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3052:Asb18
|
UTSW |
1 |
89,920,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3427:Asb18
|
UTSW |
1 |
89,896,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4094:Asb18
|
UTSW |
1 |
89,942,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Asb18
|
UTSW |
1 |
89,896,243 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4405:Asb18
|
UTSW |
1 |
89,896,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4815:Asb18
|
UTSW |
1 |
89,942,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Asb18
|
UTSW |
1 |
89,880,585 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5287:Asb18
|
UTSW |
1 |
89,942,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5403:Asb18
|
UTSW |
1 |
89,942,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5494:Asb18
|
UTSW |
1 |
89,882,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5504:Asb18
|
UTSW |
1 |
89,920,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Asb18
|
UTSW |
1 |
89,882,184 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5826:Asb18
|
UTSW |
1 |
89,942,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6369:Asb18
|
UTSW |
1 |
89,942,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7474:Asb18
|
UTSW |
1 |
89,920,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7751:Asb18
|
UTSW |
1 |
89,896,206 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8707:Asb18
|
UTSW |
1 |
89,920,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Asb18
|
UTSW |
1 |
89,880,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9253:Asb18
|
UTSW |
1 |
89,882,185 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTCCTAAGTCAATGGTCTAG -3'
(R):5'- GCCTTTGGACCCTGGAGTAC -3'
Sequencing Primer
(F):5'- TTCCTAAGTCAATGGTCTAGGAAAGG -3'
(R):5'- AGCTCACCACACCGCTGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation