Incidental Mutation 'R1405:Asb8'
ID |
500232 |
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 # |
R1405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
98032518-98063476 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98039248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 51
(H51Y)
|
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 |
possibly damaging
Transcript: ENSMUST00000059112
AA Change: H51Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000057864 Gene: ENSMUSG00000048175 AA Change: H51Y
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 |
possibly damaging
Transcript: ENSMUST00000123626
AA Change: H51Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121383 Gene: ENSMUSG00000048175 AA Change: H51Y
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 |
possibly damaging
Transcript: ENSMUST00000123922
AA Change: H51Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000119481 Gene: ENSMUSG00000048175 AA Change: H51Y
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 |
possibly damaging
Transcript: ENSMUST00000143400
AA Change: H51Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000115813 Gene: ENSMUSG00000048175 AA Change: H51Y
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 |
- 1x: 99.0%
- 3x: 96.7%
- 10x: 83.5%
- 20x: 53.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap1 |
G |
A |
7: 101,047,643 (GRCm39) |
|
probably null |
Het |
Capn10 |
T |
G |
1: 92,872,744 (GRCm39) |
V490G |
probably benign |
Het |
Ccdc146 |
G |
A |
5: 21,604,730 (GRCm39) |
S36L |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,789,635 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
A |
10: 33,389,256 (GRCm39) |
*328L |
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dstn |
A |
G |
2: 143,780,356 (GRCm39) |
K19E |
probably damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,553 (GRCm39) |
H134Q |
probably benign |
Het |
Faah |
G |
A |
4: 115,858,345 (GRCm39) |
P411S |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,681,237 (GRCm39) |
F364L |
probably damaging |
Het |
Gmnc |
A |
T |
16: 26,779,196 (GRCm39) |
N270K |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,765,133 (GRCm39) |
|
probably null |
Het |
Hmg20a |
A |
T |
9: 56,384,587 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ipo7 |
T |
C |
7: 109,629,048 (GRCm39) |
I106T |
probably benign |
Het |
Ipo7 |
C |
T |
7: 109,638,456 (GRCm39) |
P241L |
probably damaging |
Het |
Katnb1 |
T |
C |
8: 95,824,801 (GRCm39) |
Y574H |
probably damaging |
Het |
Larp6 |
A |
C |
9: 60,644,849 (GRCm39) |
M330L |
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,281,754 (GRCm39) |
Y30H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,119,868 (GRCm39) |
V420A |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,407,855 (GRCm39) |
D126G |
probably benign |
Het |
Prdm1 |
T |
A |
10: 44,315,961 (GRCm39) |
N725I |
probably damaging |
Het |
Prl3a1 |
A |
G |
13: 27,459,051 (GRCm39) |
|
probably null |
Het |
Psmd2 |
T |
C |
16: 20,471,034 (GRCm39) |
L59P |
possibly damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,918,395 (GRCm39) |
V304A |
probably benign |
Het |
Rasa3 |
A |
G |
8: 13,638,027 (GRCm39) |
V339A |
possibly damaging |
Het |
Sec24c |
G |
A |
14: 20,742,593 (GRCm39) |
|
probably null |
Het |
Serpinb9e |
A |
G |
13: 33,444,009 (GRCm39) |
D343G |
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
C |
14: 30,870,958 (GRCm39) |
V1297G |
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tmprss2 |
G |
A |
16: 97,398,005 (GRCm39) |
T57I |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,423,066 (GRCm39) |
D1021E |
probably benign |
Het |
Wdr46 |
C |
A |
17: 34,168,057 (GRCm39) |
P543Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,109,620 (GRCm39) |
Y103* |
probably null |
Het |
Zfp287 |
T |
A |
11: 62,619,137 (GRCm39) |
D119V |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,361,225 (GRCm39) |
S737G |
possibly 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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-12-01 |