Incidental Mutation 'IGL01375:Asb8'
| ID |
78684 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb8
|
| Ensembl Gene |
ENSMUSG00000048175 |
| Gene Name |
ankyrin repeat and SOCS box-containing 8 |
| Synonyms |
4930539L19Rik, C430011H06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98032518-98063476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98039190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 70
(E70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059112]
[ENSMUST00000123626]
[ENSMUST00000123922]
[ENSMUST00000143400]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059112
AA Change: E70G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123626
AA Change: E70G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123922
AA Change: E70G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143400
AA Change: E70G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
C |
T |
9: 69,390,301 (GRCm39) |
R68* |
probably null |
Het |
| Apc |
C |
T |
18: 34,446,707 (GRCm39) |
S1167L |
probably damaging |
Het |
| Aqp2 |
A |
G |
15: 99,479,983 (GRCm39) |
T149A |
possibly damaging |
Het |
| Carmil1 |
T |
C |
13: 24,278,454 (GRCm39) |
I172V |
possibly damaging |
Het |
| Cd38 |
A |
G |
5: 44,060,939 (GRCm39) |
M172V |
probably benign |
Het |
| Dync2i1 |
G |
T |
12: 116,193,296 (GRCm39) |
A552E |
possibly damaging |
Het |
| Dyrk2 |
A |
G |
10: 118,696,592 (GRCm39) |
V222A |
probably damaging |
Het |
| Ephb6 |
T |
A |
6: 41,592,845 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
T |
C |
18: 84,976,404 (GRCm39) |
S48P |
possibly damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,520,767 (GRCm39) |
|
probably null |
Het |
| H2bl1 |
A |
G |
13: 99,120,650 (GRCm39) |
|
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,484 (GRCm39) |
T238A |
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,124,874 (GRCm39) |
W108* |
probably null |
Het |
| Kdsr |
A |
T |
1: 106,655,424 (GRCm39) |
Y272N |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,308,910 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,067,200 (GRCm39) |
V747M |
probably damaging |
Het |
| Or10g3 |
A |
G |
14: 52,609,865 (GRCm39) |
I215T |
probably damaging |
Het |
| Or4a67 |
A |
G |
2: 88,597,810 (GRCm39) |
V283A |
probably benign |
Het |
| Pfn3 |
T |
A |
13: 55,562,641 (GRCm39) |
R113S |
possibly damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,521,803 (GRCm39) |
I123T |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,640 (GRCm39) |
I3121N |
probably damaging |
Het |
| Prepl |
C |
T |
17: 85,379,419 (GRCm39) |
G336D |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,631 (GRCm39) |
T249A |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,787,262 (GRCm39) |
F1276I |
possibly damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,735 (GRCm39) |
V434I |
unknown |
Het |
| Slc25a12 |
T |
C |
2: 71,138,394 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,327,593 (GRCm39) |
C642R |
probably damaging |
Het |
| Slit2 |
C |
T |
5: 48,439,056 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,162,120 (GRCm39) |
R159G |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,837 (GRCm39) |
V604A |
probably benign |
Het |
| Tnfrsf1b |
T |
C |
4: 144,951,986 (GRCm39) |
Y126C |
probably damaging |
Het |
| Traf4 |
T |
C |
11: 78,050,908 (GRCm39) |
N416S |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,024,733 (GRCm39) |
I1132T |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,378,122 (GRCm39) |
Y642* |
probably null |
Het |
|
| Other mutations in Asb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:Asb8
|
APN |
15 |
98,039,159 (GRCm39) |
splice site |
probably benign |
|
|
IGL01367:Asb8
|
APN |
15 |
98,034,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03007:Asb8
|
APN |
15 |
98,040,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03192:Asb8
|
APN |
15 |
98,033,776 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0025:Asb8
|
UTSW |
15 |
98,040,552 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1405:Asb8
|
UTSW |
15 |
98,039,248 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1405:Asb8
|
UTSW |
15 |
98,039,248 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1406:Asb8
|
UTSW |
15 |
98,034,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Asb8
|
UTSW |
15 |
98,034,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Asb8
|
UTSW |
15 |
98,034,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1958:Asb8
|
UTSW |
15 |
98,034,097 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2049:Asb8
|
UTSW |
15 |
98,033,950 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Asb8
|
UTSW |
15 |
98,039,254 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4448:Asb8
|
UTSW |
15 |
98,039,211 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5835:Asb8
|
UTSW |
15 |
98,034,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6092:Asb8
|
UTSW |
15 |
98,034,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6718:Asb8
|
UTSW |
15 |
98,034,015 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7052:Asb8
|
UTSW |
15 |
98,034,282 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7901:Asb8
|
UTSW |
15 |
98,040,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8690:Asb8
|
UTSW |
15 |
98,034,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Asb8
|
UTSW |
15 |
98,040,635 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2013-11-05 |
Incidental Mutation