Incidental Mutation 'R8481:Aste1'
| ID |
657529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aste1
|
| Ensembl Gene |
ENSMUSG00000032567 |
| Gene Name |
asteroid homolog 1 |
| Synonyms |
1100001A21Rik |
| MMRRC Submission |
067925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8481 (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 105274189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 143
(R143Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000035181
AA Change: R143Q
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: R143Q
| 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 |
possibly damaging
Transcript: ENSMUST00000123807
AA Change: R82Q
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123807
AA Change: R82Q
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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 |
probably benign
Transcript: ENSMUST00000176350
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176940
AA Change: R143Q
|
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
All alleles(6) : Targeted(4) Gene trapped(2)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,398,381 (GRCm39) |
Y380* |
probably null |
Het |
| Apob |
T |
A |
12: 8,044,807 (GRCm39) |
|
probably null |
Het |
| BC024139 |
T |
C |
15: 76,004,882 (GRCm39) |
D598G |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,111,399 (GRCm39) |
V551A |
probably benign |
Het |
| Ccdc88b |
A |
T |
19: 6,831,900 (GRCm39) |
L427Q |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,412,569 (GRCm39) |
V301A |
probably benign |
Het |
| Chuk |
G |
T |
19: 44,084,678 (GRCm39) |
H306Q |
probably benign |
Het |
| Cryzl1 |
C |
A |
16: 91,504,161 (GRCm39) |
E69* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,558,123 (GRCm39) |
D160E |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,575,753 (GRCm39) |
M2954V |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,419,941 (GRCm39) |
D3746E |
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,230,490 (GRCm39) |
V108A |
probably benign |
Het |
| Dpp9 |
C |
A |
17: 56,501,467 (GRCm39) |
D582Y |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,288 (GRCm39) |
|
probably benign |
Het |
| Got2 |
T |
A |
8: 96,615,152 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,708,998 (GRCm39) |
H61Q |
possibly damaging |
Het |
| Hnrnpa2b1 |
C |
T |
6: 51,444,391 (GRCm39) |
V8I |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,072,629 (GRCm39) |
I354V |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,070,375 (GRCm39) |
K421R |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,404,779 (GRCm39) |
D1974G |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,594,152 (GRCm39) |
E5D |
possibly damaging |
Het |
| Mprip |
T |
A |
11: 59,648,982 (GRCm39) |
Y895* |
probably null |
Het |
| Myo5c |
T |
C |
9: 75,208,726 (GRCm39) |
F1679S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,114,597 (GRCm39) |
K4221E |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,685,991 (GRCm39) |
Y308C |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,598 (GRCm39) |
N110S |
probably damaging |
Het |
| Or11a4 |
T |
A |
17: 37,536,295 (GRCm39) |
I93K |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,250,994 (GRCm39) |
I101F |
possibly damaging |
Het |
| Padi2 |
A |
G |
4: 140,660,564 (GRCm39) |
Q348R |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,198,814 (GRCm39) |
T324I |
probably benign |
Het |
| Pon3 |
C |
T |
6: 5,221,715 (GRCm39) |
R305H |
probably benign |
Het |
| Prlhr |
A |
G |
19: 60,456,125 (GRCm39) |
V147A |
possibly damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,655,153 (GRCm39) |
T605A |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,777,953 (GRCm39) |
S162P |
probably damaging |
Het |
| Rgs7bp |
A |
G |
13: 105,190,716 (GRCm39) |
S3P |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,147,073 (GRCm39) |
L677H |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,275,958 (GRCm39) |
R263G |
probably damaging |
Het |
| Slu7 |
C |
A |
11: 43,328,320 (GRCm39) |
L45M |
probably damaging |
Het |
| Slu7 |
T |
A |
11: 43,328,321 (GRCm39) |
L45Q |
probably damaging |
Het |
| Sp140 |
A |
G |
1: 85,569,512 (GRCm39) |
D374G |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Tex36 |
A |
T |
7: 133,189,189 (GRCm39) |
S128T |
probably damaging |
Het |
| Tpbg |
T |
C |
9: 85,726,138 (GRCm39) |
S36P |
unknown |
Het |
| Tubgcp2 |
C |
A |
7: 139,613,588 (GRCm39) |
D30Y |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,932 (GRCm39) |
S162P |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGATGGAGGATGTGACATTTCAG -3'
(R):5'- TGGTCATTTCCACACAGCAC -3'
Sequencing Primer
(F):5'- GGATGTGACATTTCAGATAAAAAGC -3'
(R):5'- TGCATTGAGGGAAAAGCTTCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation