Incidental Mutation 'R1406:Asb8'
ID |
160399 |
Institutional Source |
Beutler Lab
|
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 # |
R1406 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
98032518-98063476 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 98034304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 84
(G84C)
|
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: G84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057864 Gene: ENSMUSG00000048175 AA Change: G84C
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: G84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121383 Gene: ENSMUSG00000048175 AA Change: G84C
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: G84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119481 Gene: ENSMUSG00000048175 AA Change: G84C
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: G84C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115813 Gene: ENSMUSG00000048175 AA Change: G84C
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 |
- 1x: 99.5%
- 3x: 98.2%
- 10x: 92.2%
- 20x: 76.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
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 |
|
IGL01367:Asb8
|
APN |
15 |
98,034,054 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAATCCAGGGCATTGACGGAGG -3'
(R):5'- CTCAGCAGTAGTGCAGACTTGGAC -3'
Sequencing Primer
(F):5'- GCATTGTTCTTAAAGGCTGCCC -3'
(R):5'- AGTGCAGACTTGGACTTCATC -3'
|
Posted On |
2014-03-14 |