Incidental Mutation 'R8945:Aste1'
| ID |
681251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aste1
|
| Ensembl Gene |
ENSMUSG00000032567 |
| Gene Name |
asteroid homolog 1 |
| Synonyms |
1100001A21Rik |
| MMRRC Submission |
068713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8945 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105272533-105285497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105273880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 40
(C40Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000167674]
[ENSMUST00000176350]
[ENSMUST00000176940]
[ENSMUST00000177029]
[ENSMUST00000177402]
[ENSMUST00000189758]
|
| AlphaFold |
Q8BIR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035181
AA Change: C40Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: C40Y
| 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: A10T
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123807
AA Change: A10T
|
| 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 |
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 |
unknown
Transcript: ENSMUST00000176350
AA Change: C40Y
|
| Predicted Effect |
|
| 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: 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
All alleles(6) : Targeted(4) Gene trapped(2)
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
G |
T |
13: 63,388,145 (GRCm39) |
K709N |
probably null |
Het |
| Atp6v0a2 |
G |
T |
5: 124,784,589 (GRCm39) |
A291S |
probably damaging |
Het |
| Bcl9l |
G |
T |
9: 44,412,238 (GRCm39) |
V38L |
possibly damaging |
Het |
| Bmp1 |
T |
C |
14: 70,727,630 (GRCm39) |
Y651C |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,065,661 (GRCm39) |
E398G |
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,040,286 (GRCm39) |
N285I |
possibly damaging |
Het |
| Cavin1 |
T |
C |
11: 100,849,659 (GRCm39) |
T324A |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,821,712 (GRCm39) |
T554A |
probably benign |
Het |
| Clcn1 |
A |
T |
6: 42,263,701 (GRCm39) |
M1L |
possibly damaging |
Het |
| Clec18a |
A |
T |
8: 111,808,201 (GRCm39) |
S77T |
possibly damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,876 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dnah10 |
A |
C |
5: 124,891,006 (GRCm39) |
E3199A |
probably damaging |
Het |
| Dnah11 |
G |
T |
12: 117,987,718 (GRCm39) |
L2395I |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,007,096 (GRCm39) |
Y599F |
probably benign |
Het |
| Dusp26 |
G |
A |
8: 31,586,367 (GRCm39) |
R196K |
unknown |
Het |
| Dyrk1a |
A |
G |
16: 94,466,866 (GRCm39) |
Y140C |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,766,438 (GRCm39) |
Y588* |
probably null |
Het |
| Eml6 |
T |
A |
11: 29,703,110 (GRCm39) |
T1603S |
probably damaging |
Het |
| Fam162b |
T |
C |
10: 51,466,469 (GRCm39) |
T17A |
probably benign |
Het |
| Fnbp1 |
T |
A |
2: 30,995,346 (GRCm39) |
K29N |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,056,792 (GRCm39) |
I280L |
possibly damaging |
Het |
| G3bp2 |
G |
A |
5: 92,216,281 (GRCm39) |
T85I |
probably damaging |
Het |
| Gm13283 |
C |
T |
4: 88,679,123 (GRCm39) |
A38V |
probably benign |
Het |
| Hps3 |
T |
A |
3: 20,068,224 (GRCm39) |
H610L |
probably damaging |
Het |
| Ifnlr1 |
T |
G |
4: 135,431,609 (GRCm39) |
L266R |
probably damaging |
Het |
| Jak1 |
A |
T |
4: 101,020,109 (GRCm39) |
D683E |
probably benign |
Het |
| Lrrc1 |
G |
A |
9: 77,342,373 (GRCm39) |
T412M |
probably damaging |
Het |
| Mdga1 |
G |
T |
17: 30,058,959 (GRCm39) |
|
probably benign |
Het |
| Med26 |
T |
C |
8: 73,250,934 (GRCm39) |
K55R |
probably benign |
Het |
| Mturn |
C |
A |
6: 54,666,017 (GRCm39) |
C63* |
probably null |
Het |
| Myo1h |
A |
C |
5: 114,470,784 (GRCm39) |
D381A |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,703,237 (GRCm39) |
D165G |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,575,558 (GRCm39) |
D330E |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,782,644 (GRCm39) |
|
probably benign |
Het |
| Papola |
T |
A |
12: 105,775,946 (GRCm39) |
|
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,465,675 (GRCm39) |
C134S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,039 (GRCm39) |
Y478C |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,122,824 (GRCm39) |
W465R |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,817 (GRCm39) |
I432F |
probably benign |
Het |
| Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 141,598,935 (GRCm39) |
C200F |
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,252,812 (GRCm39) |
H9R |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,475 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Spz1 |
T |
C |
13: 92,711,499 (GRCm39) |
K326E |
possibly damaging |
Het |
| Tcaf1 |
C |
T |
6: 42,663,307 (GRCm39) |
S191N |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,724 (GRCm39) |
S1385G |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,338,570 (GRCm39) |
A194V |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,929,945 (GRCm39) |
N137S |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,997 (GRCm39) |
L645P |
probably damaging |
Het |
| Tspyl4 |
T |
A |
10: 34,173,461 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,100,597 (GRCm39) |
I1064F |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,628,532 (GRCm39) |
Q921* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,642,114 (GRCm39) |
I2171N |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,401,201 (GRCm39) |
V14A |
probably benign |
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 |
|
IGL03161:Aste1
|
APN |
9 |
105,273,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGACCTGTAACAAGGGTC -3'
(R):5'- TGCTCGATCCTTCAAAGTTGTC -3'
Sequencing Primer
(F):5'- CAACAGCGTATCCTGCAGTTTGG -3'
(R):5'- GTCAGCTTTTTATCTGAAATGTCAC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation