Incidental Mutation 'R7360:Aste1'
| ID |
571269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aste1
|
| Ensembl Gene |
ENSMUSG00000032567 |
| Gene Name |
asteroid homolog 1 |
| Synonyms |
1100001A21Rik |
| MMRRC Submission |
045446-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7360 (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 T
at 105274835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 358
(M358I)
|
| 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 damaging
Transcript: ENSMUST00000035181
AA Change: M358I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: M358I
| 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: M297I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123807
AA Change: M297I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| 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 |
probably benign
Transcript: ENSMUST00000176940
|
| 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 |
100% (54/54) |
| Allele List at MGI |
All alleles(6) : Targeted(4) Gene trapped(2)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
G |
C |
4: 106,606,548 (GRCm39) |
P534A |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,355,626 (GRCm39) |
Y733N |
possibly damaging |
Het |
| B4galnt3 |
C |
T |
6: 120,209,940 (GRCm39) |
W61* |
probably null |
Het |
| Brd9 |
C |
T |
13: 74,092,942 (GRCm39) |
R311W |
probably benign |
Het |
| Cdkn1c |
T |
C |
7: 143,014,431 (GRCm39) |
D5G |
possibly damaging |
Het |
| Cerk |
A |
G |
15: 86,043,327 (GRCm39) |
F158S |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cnot4 |
T |
A |
6: 35,041,941 (GRCm39) |
E235V |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,433,624 (GRCm39) |
V275A |
possibly damaging |
Het |
| Dcbld2 |
C |
A |
16: 58,285,683 (GRCm39) |
|
probably null |
Het |
| Dip2a |
T |
C |
10: 76,114,394 (GRCm39) |
R1029G |
probably damaging |
Het |
| Dnaaf1 |
A |
G |
8: 120,304,090 (GRCm39) |
T43A |
probably benign |
Het |
| Eaf2 |
C |
T |
16: 36,648,514 (GRCm39) |
S2N |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,348,719 (GRCm39) |
D164G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,584,005 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Gm1527 |
C |
T |
3: 28,968,691 (GRCm39) |
Q248* |
probably null |
Het |
| Gm29666 |
C |
T |
15: 84,798,469 (GRCm39) |
A31T |
unknown |
Het |
| Gmip |
C |
A |
8: 70,263,892 (GRCm39) |
A112D |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,617,197 (GRCm39) |
G13S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,494,597 (GRCm39) |
V4164D |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,820,202 (GRCm39) |
N580I |
probably benign |
Het |
| Krt25 |
G |
A |
11: 99,208,232 (GRCm39) |
T332M |
probably benign |
Het |
| Krt88 |
G |
T |
15: 101,345,643 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,858 (GRCm39) |
|
probably null |
Het |
| Mapkapk5 |
A |
G |
5: 121,675,169 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,460 (GRCm39) |
S1725L |
probably benign |
Het |
| Nckap1l |
T |
G |
15: 103,384,526 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,893,277 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
C |
11: 58,973,185 (GRCm39) |
V1996G |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,900 (GRCm39) |
N5I |
probably damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,331 (GRCm39) |
V114E |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,032,307 (GRCm39) |
T289A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,492,577 (GRCm39) |
K932R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,625,632 (GRCm39) |
D1322G |
probably benign |
Het |
| Peli3 |
A |
T |
19: 4,985,103 (GRCm39) |
M136K |
possibly damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,181 (GRCm39) |
I117T |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,360,621 (GRCm39) |
D478G |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,541,272 (GRCm39) |
T474A |
probably benign |
Het |
| Ptger3 |
T |
C |
3: 157,272,764 (GRCm39) |
V37A |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,906 (GRCm39) |
S999P |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,274,306 (GRCm39) |
G18S |
probably benign |
Het |
| Rest |
T |
C |
5: 77,428,976 (GRCm39) |
V465A |
probably benign |
Het |
| Sart1 |
T |
C |
19: 5,433,231 (GRCm39) |
D422G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,869,972 (GRCm39) |
M4V |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,855,075 (GRCm39) |
V395A |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,184,139 (GRCm39) |
S171T |
possibly damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,713 (GRCm39) |
S76T |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,132,341 (GRCm39) |
D223G |
unknown |
Het |
| Ssc4d |
T |
A |
5: 135,994,965 (GRCm39) |
S184C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,669,347 (GRCm39) |
Y1540C |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,926,383 (GRCm39) |
L408Q |
probably damaging |
Het |
| Usp43 |
C |
A |
11: 67,767,155 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
C |
5: 137,385,232 (GRCm39) |
V5067G |
unknown |
Het |
| Zfp180 |
C |
A |
7: 23,804,915 (GRCm39) |
L445I |
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 |
|
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'- GTGAAGCTGCAGGACTTCTTC -3'
(R):5'- AACTTACCTCAGCCAATTTGC -3'
Sequencing Primer
(F):5'- ACTTCTTCCAGTATGGTAGTTATGTC -3'
(R):5'- CTCAAGTCACATTGATCCTTGAGCAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation