Incidental Mutation 'R9213:Aste1'
| ID |
699012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aste1
|
| Ensembl Gene |
ENSMUSG00000032567 |
| Gene Name |
asteroid homolog 1 |
| Synonyms |
1100001A21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105272533-105285497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105274294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 178
(F178S)
|
| 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: F178S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
AA Change: F178S
| 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: F117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123807
AA Change: F117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: F178S
|
| 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: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted(4) Gene trapped(2)
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
A |
13: 104,581,440 (GRCm39) |
C852S |
probably damaging |
Het |
| Arf1 |
A |
G |
11: 59,104,186 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,340,000 (GRCm39) |
M674K |
probably benign |
Het |
| Asb1 |
A |
C |
1: 91,482,531 (GRCm39) |
K314N |
probably damaging |
Het |
| Avl9 |
T |
C |
6: 56,720,441 (GRCm39) |
F493S |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,009,422 (GRCm39) |
Y220C |
probably benign |
Het |
| Ccdc60 |
T |
C |
5: 116,328,185 (GRCm39) |
E93G |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,377,779 (GRCm39) |
H295R |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,255,628 (GRCm39) |
K87E |
possibly damaging |
Het |
| Chordc1 |
G |
T |
9: 18,223,789 (GRCm39) |
|
probably null |
Het |
| Ciita |
A |
T |
16: 10,319,742 (GRCm39) |
D55V |
probably damaging |
Het |
| Cklf |
T |
C |
8: 104,988,125 (GRCm39) |
V86A |
probably damaging |
Het |
| Clock |
T |
A |
5: 76,393,376 (GRCm39) |
N189I |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,444,205 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
C |
G |
8: 106,700,245 (GRCm39) |
C487S |
probably benign |
Het |
| Dtwd2 |
A |
G |
18: 49,856,799 (GRCm39) |
F163L |
probably benign |
Het |
| Eln |
C |
T |
5: 134,735,456 (GRCm39) |
V776M |
unknown |
Het |
| Fanci |
T |
A |
7: 79,055,971 (GRCm39) |
M201K |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,608,372 (GRCm39) |
T747A |
probably damaging |
Het |
| Galnt9 |
T |
A |
5: 110,767,108 (GRCm39) |
C526* |
probably null |
Het |
| Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,100,945 (GRCm39) |
S247P |
probably damaging |
Het |
| Gm4846 |
C |
T |
1: 166,322,142 (GRCm39) |
D142N |
probably damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,756,917 (GRCm39) |
E273V |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,648,428 (GRCm39) |
E145G |
possibly damaging |
Het |
| Mmp1a |
G |
T |
9: 7,475,364 (GRCm39) |
V378F |
possibly damaging |
Het |
| Mon2 |
G |
T |
10: 122,872,016 (GRCm39) |
S336* |
probably null |
Het |
| Mrgprh |
T |
A |
17: 13,095,917 (GRCm39) |
N52K |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,772,922 (GRCm39) |
F985L |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,638,677 (GRCm39) |
N207S |
probably benign |
Het |
| Nkpd1 |
A |
G |
7: 19,258,009 (GRCm39) |
D596G |
probably damaging |
Het |
| Oc90 |
C |
A |
15: 65,761,557 (GRCm39) |
E154* |
probably null |
Het |
| Or8b101 |
T |
A |
9: 38,020,426 (GRCm39) |
M143K |
possibly damaging |
Het |
| Or8b3 |
C |
A |
9: 38,315,047 (GRCm39) |
Y292* |
probably null |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,874 (GRCm39) |
Y361C |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Potefam1 |
T |
A |
2: 111,020,699 (GRCm39) |
R136S |
unknown |
Het |
| Ppp1r26 |
A |
G |
2: 28,343,649 (GRCm39) |
N1093S |
probably benign |
Het |
| Prex1 |
G |
T |
2: 166,417,669 (GRCm39) |
R1313S |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,583,911 (GRCm39) |
V227E |
probably damaging |
Het |
| Pycr2 |
A |
G |
1: 180,733,473 (GRCm39) |
D58G |
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,609,321 (GRCm39) |
E591* |
probably null |
Het |
| Rptor |
T |
C |
11: 119,494,765 (GRCm39) |
S44P |
probably benign |
Het |
| Safb2 |
T |
A |
17: 56,882,602 (GRCm39) |
T344S |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,856 (GRCm39) |
E135G |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,048,708 (GRCm39) |
I167N |
probably damaging |
Het |
| Shoc2 |
C |
T |
19: 54,016,231 (GRCm39) |
T415I |
probably benign |
Het |
| Sobp |
T |
C |
10: 42,898,374 (GRCm39) |
I404V |
probably benign |
Het |
| Ssbp4 |
G |
T |
8: 71,052,395 (GRCm39) |
L147I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Syt14 |
A |
G |
1: 192,612,814 (GRCm39) |
V379A |
probably damaging |
Het |
| Tat |
T |
G |
8: 110,722,820 (GRCm39) |
I294S |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,825,899 (GRCm39) |
V86A |
probably damaging |
Het |
| Tfap2a |
T |
A |
13: 40,870,875 (GRCm39) |
I338F |
possibly damaging |
Het |
| Tmco6 |
C |
A |
18: 36,872,384 (GRCm39) |
N365K |
probably damaging |
Het |
| Tmub2 |
G |
A |
11: 102,178,475 (GRCm39) |
R164K |
|
Het |
| Togaram1 |
A |
G |
12: 65,065,906 (GRCm39) |
I1637V |
possibly damaging |
Het |
| Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
| Ybx1 |
T |
A |
4: 119,138,794 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,676,756 (GRCm39) |
I2602N |
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 |
|
R8945:Aste1
|
UTSW |
9 |
105,273,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9128:Aste1
|
UTSW |
9 |
105,273,908 (GRCm39) |
nonsense |
probably null |
|
|
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'- AAGATCCAAGCAGCCCGTTC -3'
(R):5'- GTCCATGATGGGCAGGTTAAC -3'
Sequencing Primer
(F):5'- CTCATCCGAGAAGTGTTCATACAGG -3'
(R):5'- GGCAGGTTAACATGGTCATTTCCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation