Incidental Mutation 'R5287:Asb18'
ID |
424386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asb18
|
Ensembl Gene |
ENSMUSG00000067081 |
Gene Name |
ankyrin repeat and SOCS box-containing 18 |
Synonyms |
|
MMRRC Submission |
042871-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5287 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
89880313-89942388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89942110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 64
(T64A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086882]
[ENSMUST00000097656]
[ENSMUST00000151330]
[ENSMUST00000154228]
|
AlphaFold |
Q8VHA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086882
AA Change: T64A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000084095 Gene: ENSMUSG00000067081 AA Change: T64A
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
AA Change: T64A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000095261 Gene: ENSMUSG00000067081 AA Change: T64A
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
AA Change: T64A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000117836 Gene: ENSMUSG00000067081 AA Change: T64A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
15 |
44 |
1e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154228
AA Change: T64A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117767 Gene: ENSMUSG00000067081 AA Change: T64A
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 |
0.0658 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
T |
C |
2: 93,666,298 (GRCm39) |
D463G |
probably damaging |
Het |
Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
Arpin |
T |
C |
7: 79,577,997 (GRCm39) |
E144G |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,546,893 (GRCm39) |
N559S |
probably benign |
Het |
Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
Btnl9 |
A |
G |
11: 49,060,434 (GRCm39) |
V438A |
probably benign |
Het |
Cat |
T |
C |
2: 103,304,705 (GRCm39) |
T107A |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,397,263 (GRCm39) |
Y1080C |
possibly damaging |
Het |
Ccdc138 |
T |
A |
10: 58,411,527 (GRCm39) |
F632I |
possibly damaging |
Het |
Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
Clhc1 |
A |
G |
11: 29,528,244 (GRCm39) |
|
probably benign |
Het |
Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
Dnm1l |
A |
C |
16: 16,151,732 (GRCm39) |
V240G |
probably damaging |
Het |
Fezf1 |
C |
T |
6: 23,248,010 (GRCm39) |
V22M |
probably benign |
Het |
Gm6818 |
T |
G |
7: 38,099,911 (GRCm39) |
|
noncoding transcript |
Het |
Hand2 |
C |
T |
8: 57,775,080 (GRCm39) |
L47F |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
Itga7 |
C |
A |
10: 128,779,027 (GRCm39) |
R351S |
probably benign |
Het |
Mmp8 |
G |
T |
9: 7,567,507 (GRCm39) |
A456S |
probably benign |
Het |
Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
Otog |
T |
C |
7: 45,918,753 (GRCm39) |
F943S |
probably damaging |
Het |
Pcnx1 |
A |
T |
12: 82,028,825 (GRCm39) |
Y1668F |
probably damaging |
Het |
Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
Phkg2 |
GCTGCCGGACGAGTGGCCT |
GCT |
7: 127,181,929 (GRCm39) |
|
probably null |
Het |
Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
Ptprn2 |
A |
T |
12: 117,175,482 (GRCm39) |
M721L |
probably damaging |
Het |
Sec23ip |
A |
G |
7: 128,367,860 (GRCm39) |
E624G |
probably benign |
Het |
Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,073,607 (GRCm39) |
V1335A |
probably benign |
Het |
Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
Spdye4c |
T |
C |
2: 128,434,560 (GRCm39) |
S46P |
possibly damaging |
Het |
Syde1 |
T |
C |
10: 78,425,871 (GRCm39) |
R99G |
probably benign |
Het |
T2 |
A |
T |
17: 8,636,835 (GRCm39) |
M57L |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,625,744 (GRCm39) |
S1402L |
probably benign |
Het |
Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
Tk1 |
A |
T |
11: 117,707,367 (GRCm39) |
V140E |
probably damaging |
Het |
Tln2 |
G |
A |
9: 67,149,641 (GRCm39) |
T1192M |
probably damaging |
Het |
Tmed8 |
C |
A |
12: 87,220,957 (GRCm39) |
A210S |
probably damaging |
Het |
Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
Ttn |
G |
T |
2: 76,562,436 (GRCm39) |
S28803Y |
probably damaging |
Het |
Wdr90 |
A |
T |
17: 26,080,441 (GRCm39) |
|
probably benign |
Het |
Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
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 |
R3053: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 |
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'- AGTGTCTACCTGCCAACACAG -3'
(R):5'- GGAGAGATACCACAATGTCCAGC -3'
Sequencing Primer
(F):5'- AACACAGCTGCCGTCTTG -3'
(R):5'- TCCAGCTGGGACTCGCC -3'
|
Posted On |
2016-08-04 |