Incidental Mutation 'R6215:Aste1'
ID |
503666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aste1
|
Ensembl Gene |
ENSMUSG00000032567 |
Gene Name |
asteroid homolog 1 |
Synonyms |
1100001A21Rik |
MMRRC Submission |
044348-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6215 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105272533-105285497 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105274056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 38
(K38E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000176940]
[ENSMUST00000176350]
[ENSMUST00000189758]
[ENSMUST00000177029]
[ENSMUST00000167674]
[ENSMUST00000177402]
|
AlphaFold |
Q8BIR2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035181
AA Change: K99E
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035181 Gene: ENSMUSG00000032567 AA Change: K99E
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 |
probably damaging
Transcript: ENSMUST00000123807
AA Change: K38E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123807
AA Change: K38E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
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 |
possibly damaging
Transcript: ENSMUST00000176940
AA Change: K99E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176597
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.2158 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
95% (42/44) |
Allele List at MGI |
All alleles(6) : Targeted(4) Gene trapped(2)
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATTCTGACTTGGAGCTCAGG -3'
(R):5'- TTCAGTGAGCAAAACCCACTTC -3'
Sequencing Primer
(F):5'- AATTCTGACTTGGAGCTCAGGTATGG -3'
(R):5'- TATCCGATGATAGCACAGGACAATTC -3'
|
Posted On |
2018-02-27 |