Incidental Mutation 'IGL03161:Aste1'
| ID |
411423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aste1
|
| Ensembl Gene |
ENSMUSG00000032567 |
| Gene Name |
asteroid homolog 1 |
| Synonyms |
1100001A21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
105272533-105285497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105273871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 37
(H37L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000176350]
[ENSMUST00000176940]
[ENSMUST00000177029]
[ENSMUST00000167674]
[ENSMUST00000177402]
[ENSMUST00000189758]
|
| AlphaFold |
Q8BIR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035181
AA Change: H37L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: H37L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XPG_I_2
|
115 |
307 |
1e-18 |
PFAM |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038648
|
| SMART Domains |
Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
coiled coil region
|
348 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123807
AA Change: T7S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123807
AA Change: T7S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140851
|
| SMART Domains |
Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156256
|
| SMART Domains |
Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
30 |
177 |
8.9e-36 |
PFAM |
|
Pfam:Pkinase_Tyr
|
30 |
178 |
8.9e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176350
AA Change: H37L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176597
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176940
AA Change: H37L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177029
|
| SMART Domains |
Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1h8fa_
|
11 |
80 |
1e-6 |
SMART |
|
Blast:S_TKc
|
30 |
70 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167674
|
| SMART Domains |
Protein: ENSMUSP00000131164
Gene: ENSMUSG00000032567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177402
|
| SMART Domains |
Protein: ENSMUSP00000135318
Gene: ENSMUSG00000032567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189758
|
| SMART Domains |
Protein: ENSMUSP00000139854
Gene: ENSMUSG00000032567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted(4) Gene trapped(2)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
T |
C |
3: 79,536,493 (GRCm39) |
|
probably benign |
Het |
| Abtb2 |
G |
T |
2: 103,397,799 (GRCm39) |
R243L |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,292,168 (GRCm39) |
E871G |
possibly damaging |
Het |
| Ascc3 |
A |
T |
10: 50,494,168 (GRCm39) |
N201I |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,429 (GRCm39) |
|
probably benign |
Het |
| Cand2 |
C |
A |
6: 115,769,698 (GRCm39) |
T836K |
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,506,456 (GRCm39) |
A178T |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,397,020 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,900,987 (GRCm39) |
D326G |
probably damaging |
Het |
| Fignl1 |
A |
C |
11: 11,752,680 (GRCm39) |
M125R |
probably benign |
Het |
| Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,100 (GRCm39) |
V1957A |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,755,710 (GRCm39) |
E172G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,371,707 (GRCm39) |
D33G |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,376,255 (GRCm39) |
N1542D |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,557,977 (GRCm39) |
Y179H |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,766 (GRCm39) |
S609P |
possibly damaging |
Het |
| Nacad |
G |
A |
11: 6,550,378 (GRCm39) |
Q938* |
probably null |
Het |
| Odad3 |
A |
G |
9: 21,913,611 (GRCm39) |
S54P |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,676 (GRCm39) |
I38V |
possibly damaging |
Het |
| Or4p22 |
G |
A |
2: 88,317,792 (GRCm39) |
A239T |
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,426,760 (GRCm39) |
T292I |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,011,240 (GRCm39) |
H47Q |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,591,241 (GRCm39) |
V1351A |
probably benign |
Het |
| Spg7 |
T |
C |
8: 123,814,070 (GRCm39) |
M443T |
probably damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,519 (GRCm39) |
E91G |
probably benign |
Het |
| Tcof1 |
A |
G |
18: 60,966,560 (GRCm39) |
S344P |
possibly damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,098 (GRCm39) |
S105T |
probably benign |
Het |
| Tmem119 |
A |
G |
5: 113,932,961 (GRCm39) |
V280A |
possibly damaging |
Het |
| Trbv20 |
A |
T |
6: 41,165,757 (GRCm39) |
I61L |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,738,853 (GRCm39) |
|
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,204 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vta1 |
A |
T |
10: 14,543,716 (GRCm39) |
H219Q |
possibly damaging |
Het |
|
| Other mutations in Aste1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02134:Aste1
|
APN |
9 |
105,275,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0022:Aste1
|
UTSW |
9 |
105,273,823 (GRCm39) |
nonsense |
probably null |
|
|
R0022:Aste1
|
UTSW |
9 |
105,273,823 (GRCm39) |
nonsense |
probably null |
|
|
R1485:Aste1
|
UTSW |
9 |
105,275,009 (GRCm39) |
nonsense |
probably null |
|
|
R2010:Aste1
|
UTSW |
9 |
105,280,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Aste1
|
UTSW |
9 |
105,274,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Aste1
|
UTSW |
9 |
105,274,886 (GRCm39) |
nonsense |
probably null |
|
|
R5091:Aste1
|
UTSW |
9 |
105,282,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Aste1
|
UTSW |
9 |
105,282,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Aste1
|
UTSW |
9 |
105,279,904 (GRCm39) |
splice site |
probably null |
|
|
R5617:Aste1
|
UTSW |
9 |
105,275,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5834:Aste1
|
UTSW |
9 |
105,280,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6214:Aste1
|
UTSW |
9 |
105,274,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6215:Aste1
|
UTSW |
9 |
105,274,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6249:Aste1
|
UTSW |
9 |
105,273,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6913:Aste1
|
UTSW |
9 |
105,274,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7069:Aste1
|
UTSW |
9 |
105,273,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7155:Aste1
|
UTSW |
9 |
105,282,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Aste1
|
UTSW |
9 |
105,274,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7488:Aste1
|
UTSW |
9 |
105,279,904 (GRCm39) |
splice site |
probably null |
|
|
R7588:Aste1
|
UTSW |
9 |
105,274,590 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7734:Aste1
|
UTSW |
9 |
105,274,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8358:Aste1
|
UTSW |
9 |
105,274,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Aste1
|
UTSW |
9 |
105,274,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8480:Aste1
|
UTSW |
9 |
105,274,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8481:Aste1
|
UTSW |
9 |
105,274,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8767:Aste1
|
UTSW |
9 |
105,274,098 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8915:Aste1
|
UTSW |
9 |
105,273,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8945:Aste1
|
UTSW |
9 |
105,273,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9128:Aste1
|
UTSW |
9 |
105,273,908 (GRCm39) |
nonsense |
probably null |
|
|
R9213:Aste1
|
UTSW |
9 |
105,274,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9375:Aste1
|
UTSW |
9 |
105,273,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9377:Aste1
|
UTSW |
9 |
105,273,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9501:Aste1
|
UTSW |
9 |
105,273,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9502:Aste1
|
UTSW |
9 |
105,273,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation