Incidental Mutation 'R5048:Aste1'
ID |
394472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aste1
|
Ensembl Gene |
ENSMUSG00000032567 |
Gene Name |
asteroid homolog 1 |
Synonyms |
1100001A21Rik |
MMRRC Submission |
042638-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5048 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105272533-105285497 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 105274188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 82
(R82W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000176940]
[ENSMUST00000189758]
[ENSMUST00000176350]
[ENSMUST00000177402]
[ENSMUST00000177029]
[ENSMUST00000167674]
|
AlphaFold |
Q8BIR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035181
AA Change: R143W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035181 Gene: ENSMUSG00000032567 AA Change: R143W
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: R82W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123807
AA Change: R82W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
noncoding transcript
Transcript: ENSMUST00000176597
|
Predicted Effect |
unknown
Transcript: ENSMUST00000176940
AA Change: R143W
|
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: ENSMUST00000176350
|
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: 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 |
|
Meta Mutation Damage Score |
0.1001 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.1%
|
Validation Efficiency |
98% (64/65) |
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 |
Abcb11 |
T |
C |
2: 69,138,850 (GRCm39) |
I144V |
probably benign |
Het |
Abhd5 |
T |
C |
9: 122,206,968 (GRCm39) |
Y85H |
probably damaging |
Het |
Acadsb |
G |
A |
7: 131,039,198 (GRCm39) |
G323D |
probably damaging |
Het |
Amotl2 |
A |
G |
9: 102,600,997 (GRCm39) |
R322G |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,098,641 (GRCm39) |
|
probably benign |
Het |
Atg4b |
T |
C |
1: 93,703,380 (GRCm39) |
I139T |
possibly damaging |
Het |
Btnl5-ps |
T |
A |
17: 34,707,697 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc85c |
A |
G |
12: 108,187,966 (GRCm39) |
|
probably null |
Het |
Clasp1 |
A |
G |
1: 118,475,340 (GRCm39) |
|
probably benign |
Het |
Defb10 |
G |
A |
8: 22,351,887 (GRCm39) |
C44Y |
probably damaging |
Het |
Dhrs9 |
T |
C |
2: 69,224,744 (GRCm39) |
V144A |
probably damaging |
Het |
Dnhd1 |
G |
C |
7: 105,342,904 (GRCm39) |
S1416T |
probably benign |
Het |
Dok1 |
T |
A |
6: 83,009,087 (GRCm39) |
|
probably benign |
Het |
Emilin2 |
G |
A |
17: 71,580,962 (GRCm39) |
T588M |
probably damaging |
Het |
Fam181b |
A |
G |
7: 92,729,147 (GRCm39) |
|
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,691,987 (GRCm39) |
|
probably null |
Het |
Foxi2 |
A |
G |
7: 135,013,364 (GRCm39) |
E198G |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,823,494 (GRCm39) |
A6409E |
probably damaging |
Het |
Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
Gm6401 |
T |
C |
14: 41,789,724 (GRCm39) |
|
probably null |
Het |
Gprc5c |
T |
C |
11: 114,761,177 (GRCm39) |
*442Q |
probably null |
Het |
Iars1 |
T |
A |
13: 49,841,713 (GRCm39) |
I67N |
probably damaging |
Het |
Igkv4-79 |
T |
C |
6: 69,019,971 (GRCm39) |
S115G |
probably benign |
Het |
Itga4 |
C |
A |
2: 79,103,378 (GRCm39) |
S156R |
probably benign |
Het |
Lilra6 |
C |
T |
7: 3,918,440 (GRCm39) |
|
probably null |
Het |
Majin |
C |
A |
19: 6,272,684 (GRCm39) |
A208E |
probably benign |
Het |
Megf8 |
A |
G |
7: 25,030,517 (GRCm39) |
Q490R |
possibly damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mgarp |
G |
A |
3: 51,298,707 (GRCm39) |
R88C |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,980,196 (GRCm39) |
F58S |
probably damaging |
Het |
Nemp1 |
T |
C |
10: 127,526,804 (GRCm39) |
|
probably null |
Het |
Nlrp10 |
A |
T |
7: 108,523,772 (GRCm39) |
N569K |
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,237,388 (GRCm39) |
|
probably null |
Het |
Or4c106 |
T |
C |
2: 88,682,807 (GRCm39) |
V171A |
possibly damaging |
Het |
Or5w16 |
C |
A |
2: 87,576,663 (GRCm39) |
A41E |
probably benign |
Het |
Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
Pigb |
T |
A |
9: 72,936,990 (GRCm39) |
|
probably null |
Het |
Pitpnb |
T |
C |
5: 111,530,869 (GRCm39) |
F221L |
possibly damaging |
Het |
Prox2 |
A |
T |
12: 85,141,115 (GRCm39) |
W363R |
probably damaging |
Het |
Psmg1 |
T |
A |
16: 95,785,171 (GRCm39) |
R139S |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,286,554 (GRCm39) |
|
probably null |
Het |
Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
Shkbp1 |
G |
A |
7: 27,051,521 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
C |
A |
13: 100,943,249 (GRCm39) |
L536F |
probably damaging |
Het |
Slc6a17 |
A |
T |
3: 107,378,753 (GRCm39) |
L643* |
probably null |
Het |
Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
Stoml3 |
A |
C |
3: 53,408,213 (GRCm39) |
K86N |
possibly damaging |
Het |
Tmtc1 |
A |
T |
6: 148,139,344 (GRCm39) |
L926Q |
possibly damaging |
Het |
Tns4 |
T |
G |
11: 98,969,605 (GRCm39) |
R285S |
possibly damaging |
Het |
Uncx |
C |
T |
5: 139,532,874 (GRCm39) |
T313M |
probably benign |
Het |
Vmn2r75 |
G |
A |
7: 85,814,735 (GRCm39) |
R253C |
possibly damaging |
Het |
Zbed6 |
T |
C |
1: 133,586,462 (GRCm39) |
S292G |
probably damaging |
Het |
Zfp143 |
A |
G |
7: 109,673,325 (GRCm39) |
T142A |
probably damaging |
Het |
Zfp287 |
T |
C |
11: 62,605,777 (GRCm39) |
K366E |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTGGAGCTCAGGTATGGAG -3'
(R):5'- TGAGGGAAAAGCTTCTGGC -3'
Sequencing Primer
(F):5'- GAGGAGACTATGATTTATTCGCAG -3'
(R):5'- CTTCTGGCGGGAATGTAGTAATC -3'
|
Posted On |
2016-06-15 |