Incidental Mutation 'IGL03007:Asb8'
ID |
407605 |
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 # |
IGL03007
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
98032518-98063476 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98040615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 16
(Y16H)
|
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: Y16H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000057864 Gene: ENSMUSG00000048175 AA Change: Y16H
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: Y16H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121383 Gene: ENSMUSG00000048175 AA Change: Y16H
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: Y16H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119481 Gene: ENSMUSG00000048175 AA Change: Y16H
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: Y16H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115813 Gene: ENSMUSG00000048175 AA Change: Y16H
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 |
9330159F19Rik |
A |
G |
10: 29,098,034 (GRCm39) |
N144D |
possibly damaging |
Het |
A830031A19Rik |
T |
C |
11: 23,999,248 (GRCm39) |
|
probably benign |
Het |
Ankfy1 |
T |
C |
11: 72,641,347 (GRCm39) |
F640S |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,496,193 (GRCm39) |
|
probably benign |
Het |
Btbd8 |
T |
A |
5: 107,651,542 (GRCm39) |
V145E |
probably benign |
Het |
Celf3 |
A |
G |
3: 94,394,444 (GRCm39) |
T183A |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,159,690 (GRCm39) |
V56A |
probably damaging |
Het |
Erbb2 |
A |
C |
11: 98,319,819 (GRCm39) |
|
probably benign |
Het |
Ighv6-4 |
A |
T |
12: 114,370,213 (GRCm39) |
Y80N |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,378 (GRCm39) |
S782P |
probably damaging |
Het |
Itsn1 |
A |
T |
16: 91,581,050 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
A |
1: 140,282,245 (GRCm39) |
Y77N |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,680,401 (GRCm39) |
F359S |
probably damaging |
Het |
Mtmr6 |
G |
T |
14: 60,526,984 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
T |
16: 32,570,866 (GRCm39) |
S642F |
possibly damaging |
Het |
Ncoa1 |
T |
A |
12: 4,389,114 (GRCm39) |
I54F |
possibly damaging |
Het |
Nfx1 |
C |
A |
4: 40,984,962 (GRCm39) |
T362K |
probably benign |
Het |
Ntrk1 |
T |
C |
3: 87,690,050 (GRCm39) |
S449G |
possibly damaging |
Het |
Odc1 |
T |
A |
12: 17,598,811 (GRCm39) |
H230Q |
probably benign |
Het |
Or10d4 |
T |
C |
9: 39,580,767 (GRCm39) |
V138A |
possibly damaging |
Het |
Or10h28 |
A |
G |
17: 33,487,857 (GRCm39) |
E53G |
probably damaging |
Het |
Or1j19 |
T |
C |
2: 36,676,812 (GRCm39) |
S92P |
probably damaging |
Het |
Or8d1 |
C |
T |
9: 38,766,592 (GRCm39) |
T78I |
probably damaging |
Het |
Plekhh2 |
A |
C |
17: 84,882,388 (GRCm39) |
S665R |
possibly damaging |
Het |
Qpct |
T |
A |
17: 79,378,294 (GRCm39) |
F155I |
probably damaging |
Het |
Rcor2 |
C |
A |
19: 7,251,718 (GRCm39) |
T379K |
probably benign |
Het |
Rint1 |
A |
G |
5: 24,020,699 (GRCm39) |
N574S |
probably benign |
Het |
Rsbn1 |
C |
T |
3: 103,836,195 (GRCm39) |
A411V |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,894,384 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,668,115 (GRCm39) |
S661P |
probably damaging |
Het |
Syn3 |
A |
T |
10: 85,900,778 (GRCm39) |
M370K |
possibly damaging |
Het |
Tex101 |
G |
A |
7: 24,369,906 (GRCm39) |
|
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,507,066 (GRCm39) |
T265I |
possibly damaging |
Het |
Trio |
G |
T |
15: 27,902,828 (GRCm39) |
A211D |
probably damaging |
Het |
Zfp638 |
C |
A |
6: 83,961,866 (GRCm39) |
Q1902K |
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 |
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 |
2016-08-02 |