Incidental Mutation 'R0416:Astn1'
ID |
40295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Astn1
|
Ensembl Gene |
ENSMUSG00000026587 |
Gene Name |
astrotactin 1 |
Synonyms |
|
MMRRC Submission |
038618-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R0416 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 158337461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 389
(I389N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
AlphaFold |
Q61137 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046110
AA Change: I389N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039711 Gene: ENSMUSG00000026587 AA Change: I389N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
EGF
|
462 |
507 |
1.2e1 |
SMART |
EGF
|
611 |
652 |
2.29e1 |
SMART |
EGF_like
|
659 |
708 |
3.57e1 |
SMART |
MACPF
|
811 |
999 |
1.11e-56 |
SMART |
FN3
|
1030 |
1142 |
5.75e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093595
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170718
AA Change: I389N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000127428 Gene: ENSMUSG00000026587 AA Change: I389N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
EGF
|
462 |
507 |
1.2e1 |
SMART |
EGF
|
611 |
652 |
2.29e1 |
SMART |
EGF_like
|
659 |
708 |
3.57e1 |
SMART |
Blast:MACPF
|
811 |
835 |
3e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192868
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193042
AA Change: I389N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142322 Gene: ENSMUSG00000026587 AA Change: I389N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
EGF
|
462 |
507 |
1.2e1 |
SMART |
EGF
|
611 |
652 |
2.29e1 |
SMART |
EGF_like
|
659 |
708 |
3.57e1 |
SMART |
MACPF
|
811 |
999 |
1.11e-56 |
SMART |
FN3
|
1030 |
1142 |
5.75e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194369
AA Change: I389N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142017 Gene: ENSMUSG00000026587 AA Change: I389N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
EGF
|
462 |
499 |
2e-2 |
SMART |
EGF
|
603 |
644 |
1.1e-1 |
SMART |
EGF_like
|
651 |
700 |
1.7e-1 |
SMART |
Blast:MACPF
|
803 |
828 |
2e-7 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195311
AA Change: I389N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141518 Gene: ENSMUSG00000026587 AA Change: I389N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
EGF
|
462 |
499 |
2e-2 |
SMART |
EGF
|
603 |
644 |
1.1e-1 |
SMART |
EGF_like
|
651 |
700 |
1.7e-1 |
SMART |
MACPF
|
803 |
991 |
6.2e-59 |
SMART |
FN3
|
1022 |
1134 |
2.8e-4 |
SMART |
|
Meta Mutation Damage Score |
0.2551 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 91.8%
|
Validation Efficiency |
99% (74/75) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009] PHENOTYPE: Homozygous mutation of this gene results in reduced cerebellum size, abnormal Purkinje cell morphology, and reduced coordination performance on the Rotarod test. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
A |
G |
7: 119,162,779 (GRCm39) |
I18V |
probably benign |
Het |
Adamdec1 |
T |
G |
14: 68,806,161 (GRCm39) |
E438A |
possibly damaging |
Het |
Adamts17 |
A |
G |
7: 66,565,646 (GRCm39) |
|
probably null |
Het |
Ankrd44 |
T |
G |
1: 54,782,498 (GRCm39) |
I359L |
possibly damaging |
Het |
Ap2s1 |
C |
A |
7: 16,481,290 (GRCm39) |
N86K |
probably damaging |
Het |
Arih1 |
T |
A |
9: 59,333,993 (GRCm39) |
|
probably benign |
Het |
Brca2 |
T |
C |
5: 150,492,857 (GRCm39) |
S3291P |
possibly damaging |
Het |
Cacna1d |
T |
C |
14: 29,822,645 (GRCm39) |
|
probably benign |
Het |
Ccl7 |
C |
A |
11: 81,936,692 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,944,486 (GRCm39) |
Y232F |
possibly damaging |
Het |
Cep128 |
A |
G |
12: 91,197,641 (GRCm39) |
|
probably benign |
Het |
Cep89 |
T |
A |
7: 35,115,827 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
T |
G |
13: 93,226,364 (GRCm39) |
N2908T |
probably benign |
Het |
Coil |
T |
C |
11: 88,872,812 (GRCm39) |
L391S |
possibly damaging |
Het |
Cpd |
C |
T |
11: 76,676,030 (GRCm39) |
V1208I |
probably benign |
Het |
Ddx19a |
T |
C |
8: 111,705,689 (GRCm39) |
D254G |
probably damaging |
Het |
Desi2 |
T |
A |
1: 178,083,887 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,874,793 (GRCm39) |
M4024K |
probably damaging |
Het |
Ergic2 |
A |
T |
6: 148,084,642 (GRCm39) |
L53H |
probably damaging |
Het |
Etv2 |
T |
C |
7: 30,334,058 (GRCm39) |
Y225C |
probably benign |
Het |
F10 |
G |
A |
8: 13,105,448 (GRCm39) |
A338T |
probably damaging |
Het |
Fam228b |
T |
A |
12: 4,812,382 (GRCm39) |
D132V |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,174,960 (GRCm39) |
I1918F |
possibly damaging |
Het |
Fbxw5 |
C |
T |
2: 25,393,251 (GRCm39) |
S214F |
probably damaging |
Het |
Glyat |
G |
A |
19: 12,628,817 (GRCm39) |
R204Q |
possibly damaging |
Het |
Gm4825 |
T |
C |
15: 85,395,182 (GRCm39) |
|
noncoding transcript |
Het |
Ino80d |
G |
T |
1: 63,125,435 (GRCm39) |
T9K |
possibly damaging |
Het |
Lifr |
A |
T |
15: 7,196,395 (GRCm39) |
D193V |
probably damaging |
Het |
Lrp12 |
G |
T |
15: 39,742,307 (GRCm39) |
|
probably benign |
Het |
Lrp3 |
A |
G |
7: 34,901,778 (GRCm39) |
V701A |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,756,708 (GRCm39) |
|
probably benign |
Het |
Mrto4 |
A |
T |
4: 139,077,043 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
C |
5: 115,568,708 (GRCm39) |
F43L |
possibly damaging |
Het |
Mthfsd |
T |
C |
8: 121,827,976 (GRCm39) |
D168G |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,402,000 (GRCm39) |
V3099E |
probably damaging |
Het |
Myrf |
T |
C |
19: 10,193,176 (GRCm39) |
|
probably null |
Het |
Nadk |
C |
A |
4: 155,672,256 (GRCm39) |
|
probably benign |
Het |
Nav1 |
T |
C |
1: 135,398,864 (GRCm39) |
K573E |
possibly damaging |
Het |
Ndufs3 |
A |
G |
2: 90,728,732 (GRCm39) |
V207A |
probably damaging |
Het |
Nlrp3 |
T |
C |
11: 59,446,750 (GRCm39) |
|
probably benign |
Het |
Nlrx1 |
T |
G |
9: 44,174,211 (GRCm39) |
D330A |
probably benign |
Het |
Or2a56 |
G |
A |
6: 42,932,504 (GRCm39) |
C24Y |
probably benign |
Het |
Or2t49 |
T |
C |
11: 58,393,222 (GRCm39) |
I53M |
unknown |
Het |
Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
Pcnx1 |
A |
T |
12: 82,021,240 (GRCm39) |
I1410F |
probably benign |
Het |
Piezo2 |
G |
A |
18: 63,157,562 (GRCm39) |
R2383C |
probably damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,473,436 (GRCm39) |
K358* |
probably null |
Het |
Polg |
T |
C |
7: 79,101,988 (GRCm39) |
|
probably benign |
Het |
Prr14l |
T |
A |
5: 32,986,061 (GRCm39) |
I1145F |
probably benign |
Het |
Psmb1 |
C |
T |
17: 15,714,781 (GRCm39) |
V39I |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,844,101 (GRCm39) |
Y66C |
possibly damaging |
Het |
Robo4 |
T |
C |
9: 37,316,062 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,694,029 (GRCm39) |
Y1801H |
probably damaging |
Het |
Serpinb3a |
C |
A |
1: 106,977,116 (GRCm39) |
A95S |
probably benign |
Het |
Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
Sik2 |
A |
T |
9: 50,906,932 (GRCm39) |
Y98N |
probably damaging |
Het |
Slc30a1 |
C |
T |
1: 191,641,838 (GRCm39) |
P495S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,783,684 (GRCm39) |
|
probably benign |
Het |
Stk3 |
T |
A |
15: 35,114,778 (GRCm39) |
I45L |
probably benign |
Het |
Tapbp |
A |
G |
17: 34,144,392 (GRCm39) |
T163A |
probably damaging |
Het |
Tdrd5 |
T |
C |
1: 156,113,051 (GRCm39) |
K410E |
probably damaging |
Het |
Trim30b |
A |
T |
7: 104,012,973 (GRCm39) |
M152K |
probably benign |
Het |
Trpm6 |
G |
T |
19: 18,760,389 (GRCm39) |
|
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,742,743 (GRCm39) |
|
probably benign |
Het |
U2surp |
A |
T |
9: 95,367,660 (GRCm39) |
F444I |
probably damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,661,664 (GRCm39) |
P470L |
probably damaging |
Het |
Zc3h4 |
T |
G |
7: 16,154,200 (GRCm39) |
Y163D |
probably damaging |
Het |
Zfp62 |
A |
T |
11: 49,106,503 (GRCm39) |
H198L |
probably damaging |
Het |
Zmym1 |
A |
G |
4: 126,952,613 (GRCm39) |
L56P |
probably benign |
Het |
|
Other mutations in Astn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Astn1
|
APN |
1 |
158,427,889 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01705:Astn1
|
APN |
1 |
158,331,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01790:Astn1
|
APN |
1 |
158,407,897 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01962:Astn1
|
APN |
1 |
158,496,201 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02000:Astn1
|
APN |
1 |
158,502,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02119:Astn1
|
APN |
1 |
158,338,724 (GRCm39) |
intron |
probably benign |
|
IGL02168:Astn1
|
APN |
1 |
158,436,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02239:Astn1
|
APN |
1 |
158,491,700 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02271:Astn1
|
APN |
1 |
158,338,520 (GRCm39) |
splice site |
probably benign |
|
IGL02307:Astn1
|
APN |
1 |
158,502,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02504:Astn1
|
APN |
1 |
158,329,978 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02552:Astn1
|
APN |
1 |
158,332,965 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02903:Astn1
|
APN |
1 |
158,516,120 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03003:Astn1
|
APN |
1 |
158,439,965 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03007:Astn1
|
APN |
1 |
158,496,193 (GRCm39) |
splice site |
probably benign |
|
IGL03354:Astn1
|
APN |
1 |
158,516,174 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4366001:Astn1
|
UTSW |
1 |
158,424,781 (GRCm39) |
missense |
probably benign |
0.23 |
PIT4366001:Astn1
|
UTSW |
1 |
158,424,779 (GRCm39) |
missense |
probably benign |
0.20 |
R0024:Astn1
|
UTSW |
1 |
158,511,785 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:Astn1
|
UTSW |
1 |
158,407,294 (GRCm39) |
splice site |
probably benign |
|
R0099:Astn1
|
UTSW |
1 |
158,329,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Astn1
|
UTSW |
1 |
158,491,674 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0109:Astn1
|
UTSW |
1 |
158,491,674 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0365:Astn1
|
UTSW |
1 |
158,516,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R0531:Astn1
|
UTSW |
1 |
158,427,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R0735:Astn1
|
UTSW |
1 |
158,299,959 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0763:Astn1
|
UTSW |
1 |
158,337,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0899:Astn1
|
UTSW |
1 |
158,338,679 (GRCm39) |
nonsense |
probably null |
|
R1027:Astn1
|
UTSW |
1 |
158,407,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Astn1
|
UTSW |
1 |
158,427,935 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1474:Astn1
|
UTSW |
1 |
158,329,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R1517:Astn1
|
UTSW |
1 |
158,407,146 (GRCm39) |
splice site |
probably benign |
|
R1701:Astn1
|
UTSW |
1 |
158,331,877 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1764:Astn1
|
UTSW |
1 |
158,331,821 (GRCm39) |
missense |
probably benign |
0.35 |
R1860:Astn1
|
UTSW |
1 |
158,429,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Astn1
|
UTSW |
1 |
158,332,886 (GRCm39) |
splice site |
probably null |
|
R1919:Astn1
|
UTSW |
1 |
158,337,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Astn1
|
UTSW |
1 |
158,348,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R2007:Astn1
|
UTSW |
1 |
158,436,875 (GRCm39) |
missense |
probably damaging |
0.97 |
R2038:Astn1
|
UTSW |
1 |
158,484,690 (GRCm39) |
missense |
probably benign |
0.29 |
R2044:Astn1
|
UTSW |
1 |
158,428,072 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2084:Astn1
|
UTSW |
1 |
158,299,978 (GRCm39) |
missense |
probably damaging |
0.99 |
R2094:Astn1
|
UTSW |
1 |
158,495,179 (GRCm39) |
missense |
probably benign |
0.02 |
R2163:Astn1
|
UTSW |
1 |
158,329,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R2211:Astn1
|
UTSW |
1 |
158,484,876 (GRCm39) |
missense |
probably benign |
0.40 |
R2268:Astn1
|
UTSW |
1 |
158,329,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R2269:Astn1
|
UTSW |
1 |
158,329,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R2425:Astn1
|
UTSW |
1 |
158,407,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R2428:Astn1
|
UTSW |
1 |
158,439,916 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2980:Astn1
|
UTSW |
1 |
158,400,521 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3713:Astn1
|
UTSW |
1 |
158,495,102 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3745:Astn1
|
UTSW |
1 |
158,329,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R3926:Astn1
|
UTSW |
1 |
158,407,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4345:Astn1
|
UTSW |
1 |
158,329,602 (GRCm39) |
splice site |
probably null |
|
R4625:Astn1
|
UTSW |
1 |
158,407,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Astn1
|
UTSW |
1 |
158,329,821 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4970:Astn1
|
UTSW |
1 |
158,484,763 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5112:Astn1
|
UTSW |
1 |
158,484,763 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5257:Astn1
|
UTSW |
1 |
158,440,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R5292:Astn1
|
UTSW |
1 |
158,407,933 (GRCm39) |
critical splice donor site |
probably null |
|
R5889:Astn1
|
UTSW |
1 |
158,427,950 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5909:Astn1
|
UTSW |
1 |
158,429,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6020:Astn1
|
UTSW |
1 |
158,337,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Astn1
|
UTSW |
1 |
158,491,691 (GRCm39) |
nonsense |
probably null |
|
R6481:Astn1
|
UTSW |
1 |
158,440,032 (GRCm39) |
missense |
probably benign |
0.29 |
R6736:Astn1
|
UTSW |
1 |
158,338,718 (GRCm39) |
critical splice donor site |
probably null |
|
R6833:Astn1
|
UTSW |
1 |
158,491,692 (GRCm39) |
missense |
probably benign |
0.40 |
R6834:Astn1
|
UTSW |
1 |
158,491,692 (GRCm39) |
missense |
probably benign |
0.40 |
R6860:Astn1
|
UTSW |
1 |
158,440,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R6874:Astn1
|
UTSW |
1 |
158,491,644 (GRCm39) |
nonsense |
probably null |
|
R7062:Astn1
|
UTSW |
1 |
158,516,081 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7133:Astn1
|
UTSW |
1 |
158,400,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R7355:Astn1
|
UTSW |
1 |
158,491,846 (GRCm39) |
splice site |
probably null |
|
R7402:Astn1
|
UTSW |
1 |
158,380,425 (GRCm39) |
intron |
probably benign |
|
R7412:Astn1
|
UTSW |
1 |
158,329,919 (GRCm39) |
missense |
probably damaging |
0.98 |
R7487:Astn1
|
UTSW |
1 |
158,438,352 (GRCm39) |
splice site |
probably null |
|
R7537:Astn1
|
UTSW |
1 |
158,495,208 (GRCm39) |
splice site |
probably null |
|
R7537:Astn1
|
UTSW |
1 |
158,332,956 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7635:Astn1
|
UTSW |
1 |
158,495,105 (GRCm39) |
nonsense |
probably null |
|
R7890:Astn1
|
UTSW |
1 |
158,407,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7894:Astn1
|
UTSW |
1 |
158,429,508 (GRCm39) |
missense |
probably damaging |
0.98 |
R7904:Astn1
|
UTSW |
1 |
158,424,886 (GRCm39) |
missense |
probably benign |
0.37 |
R8048:Astn1
|
UTSW |
1 |
158,516,208 (GRCm39) |
missense |
probably benign |
0.00 |
R8061:Astn1
|
UTSW |
1 |
158,331,920 (GRCm39) |
critical splice donor site |
probably null |
|
R8096:Astn1
|
UTSW |
1 |
158,436,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R8327:Astn1
|
UTSW |
1 |
158,436,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R8374:Astn1
|
UTSW |
1 |
158,329,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R8400:Astn1
|
UTSW |
1 |
158,484,670 (GRCm39) |
missense |
probably benign |
0.09 |
R8983:Astn1
|
UTSW |
1 |
158,491,700 (GRCm39) |
critical splice donor site |
probably null |
|
R9013:Astn1
|
UTSW |
1 |
158,348,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R9110:Astn1
|
UTSW |
1 |
158,496,327 (GRCm39) |
missense |
probably benign |
0.01 |
R9156:Astn1
|
UTSW |
1 |
158,338,555 (GRCm39) |
missense |
probably damaging |
0.99 |
R9355:Astn1
|
UTSW |
1 |
158,511,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R9683:Astn1
|
UTSW |
1 |
158,491,619 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1088:Astn1
|
UTSW |
1 |
158,511,666 (GRCm39) |
nonsense |
probably null |
|
Z1088:Astn1
|
UTSW |
1 |
158,424,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:Astn1
|
UTSW |
1 |
158,300,067 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTCAAATTGGGGAGAGTCTGCAC -3'
(R):5'- CTTTTGCCCAGCTTGAAAACCACC -3'
Sequencing Primer
(F):5'- TCACATGGTGTCCCTAATGAG -3'
(R):5'- CACCAACTACTGACGGAGTG -3'
|
Posted On |
2013-05-23 |