Incidental Mutation 'IGL01367:Asb8'
| ID |
75977 |
| 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 # |
IGL01367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98032518-98063476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98034054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 167
(V167D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000059112]
[ENSMUST00000123626]
[ENSMUST00000123922]
[ENSMUST00000143400]
[ENSMUST00000163507]
[ENSMUST00000230445]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051226
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
17 |
324 |
1.3e-111 |
PFAM |
|
Pfam:PFK
|
402 |
687 |
1e-93 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059112
AA Change: V167D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: V167D
| 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: V167D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: V167D
| 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: V167D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: V167D
| 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: V167D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: V167D
| 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 benign
Transcript: ENSMUST00000163507
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
16 |
326 |
2.9e-138 |
PFAM |
|
Pfam:PFK
|
401 |
688 |
1.8e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230445
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,404,843 (GRCm39) |
V20A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,207,781 (GRCm39) |
I985V |
probably damaging |
Het |
| Anapc2 |
A |
C |
2: 25,164,794 (GRCm39) |
R59S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,696 (GRCm39) |
D165E |
probably benign |
Het |
| Atp5pf |
A |
G |
16: 84,625,360 (GRCm39) |
M81T |
probably benign |
Het |
| Bcl7b |
A |
G |
5: 135,208,950 (GRCm39) |
T138A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,566 (GRCm39) |
L2869P |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,186 (GRCm39) |
S1174P |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,699 (GRCm39) |
I36T |
unknown |
Het |
| Denr |
A |
G |
5: 124,046,182 (GRCm39) |
D4G |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,155,096 (GRCm39) |
|
probably benign |
Het |
| Egf |
C |
T |
3: 129,496,104 (GRCm39) |
|
probably null |
Het |
| Galnt10 |
A |
C |
11: 57,616,409 (GRCm39) |
Y108S |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Grb10 |
G |
T |
11: 11,895,599 (GRCm39) |
Q242K |
probably damaging |
Het |
| Hspg2 |
A |
T |
4: 137,265,800 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Ikzf1 |
G |
T |
11: 11,698,358 (GRCm39) |
A70S |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,458,426 (GRCm39) |
Y526H |
probably damaging |
Het |
| Il34 |
A |
T |
8: 111,469,375 (GRCm39) |
I186N |
possibly damaging |
Het |
| Iqca1 |
G |
A |
1: 89,998,350 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,896,546 (GRCm39) |
Y136C |
probably damaging |
Het |
| Man2b2 |
A |
T |
5: 36,971,681 (GRCm39) |
Y257* |
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,752,088 (GRCm39) |
F421S |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,332,907 (GRCm39) |
T288A |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,954,135 (GRCm39) |
E187G |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,252,323 (GRCm39) |
T394A |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,177 (GRCm39) |
S39P |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,566 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Pcdhb17 |
G |
T |
18: 37,620,548 (GRCm39) |
Q779H |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,033,726 (GRCm39) |
I1577V |
probably benign |
Het |
| Pkp3 |
C |
T |
7: 140,663,989 (GRCm39) |
P389S |
probably damaging |
Het |
| Ppp4r2 |
T |
A |
6: 100,841,706 (GRCm39) |
Y92* |
probably null |
Het |
| Rnf13 |
T |
C |
3: 57,714,508 (GRCm39) |
I189T |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,328,871 (GRCm39) |
D53G |
probably benign |
Het |
| Slc47a2 |
T |
A |
11: 61,220,607 (GRCm39) |
T184S |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,210,936 (GRCm39) |
I1008T |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,784,814 (GRCm39) |
E1079V |
probably damaging |
Het |
| Trappc8 |
G |
A |
18: 20,999,176 (GRCm39) |
S318L |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,462,002 (GRCm39) |
S909P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,483 (GRCm39) |
T29306I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 45,000,090 (GRCm39) |
R602Q |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,075 (GRCm39) |
I261K |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,461,124 (GRCm39) |
A817T |
probably damaging |
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 |
|
|
IGL01375:Asb8
|
APN |
15 |
98,039,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2013-10-07 |
Incidental Mutation