Incidental Mutation 'R4627:Astn1'
ID |
348825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Astn1
|
Ensembl Gene |
ENSMUSG00000026587 |
Gene Name |
astrotactin 1 |
Synonyms |
|
MMRRC Submission |
041892-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R4627 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 158329821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 225
(H225Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
AlphaFold |
Q61137 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046110
AA Change: H225Q
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039711 Gene: ENSMUSG00000026587 AA Change: H225Q
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: H225Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127428 Gene: ENSMUSG00000026587 AA Change: H225Q
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: ENSMUST00000192868
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193042
AA Change: H225Q
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142322 Gene: ENSMUSG00000026587 AA Change: H225Q
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: H225Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142017 Gene: ENSMUSG00000026587 AA Change: H225Q
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 |
possibly damaging
Transcript: ENSMUST00000195311
AA Change: H225Q
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000141518 Gene: ENSMUSG00000026587 AA Change: H225Q
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
A |
T |
12: 113,508,569 (GRCm39) |
D314V |
probably benign |
Het |
Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
Adamtsl2 |
T |
A |
2: 26,983,597 (GRCm39) |
L331Q |
probably damaging |
Het |
Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
Aldoart1 |
T |
C |
4: 72,770,680 (GRCm39) |
T43A |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ano7 |
T |
C |
1: 93,302,907 (GRCm39) |
I15T |
probably benign |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Aox3 |
A |
T |
1: 58,164,194 (GRCm39) |
T155S |
probably damaging |
Het |
Ap2a1 |
C |
T |
7: 44,553,843 (GRCm39) |
V535M |
probably damaging |
Het |
Apbb2 |
C |
T |
5: 66,557,419 (GRCm39) |
|
probably null |
Het |
Atm |
A |
G |
9: 53,367,806 (GRCm39) |
I2439T |
possibly damaging |
Het |
Atp1b2 |
T |
A |
11: 69,492,160 (GRCm39) |
I263F |
probably damaging |
Het |
Ccdc184 |
A |
T |
15: 98,066,638 (GRCm39) |
N148Y |
probably benign |
Het |
Cdca7 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
2: 72,312,205 (GRCm39) |
|
probably benign |
Het |
Cep192 |
C |
G |
18: 67,945,440 (GRCm39) |
P180R |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,237,197 (GRCm39) |
Y571C |
probably damaging |
Het |
Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
Chchd6 |
G |
A |
6: 89,361,642 (GRCm39) |
L226F |
probably damaging |
Het |
Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
Cobl |
T |
C |
11: 12,201,093 (GRCm39) |
E1214G |
probably damaging |
Het |
Cpsf2 |
G |
A |
12: 101,956,154 (GRCm39) |
R319Q |
probably benign |
Het |
Csdc2 |
T |
C |
15: 81,833,324 (GRCm39) |
V107A |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,747,933 (GRCm39) |
W273R |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,356,202 (GRCm39) |
N2156I |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,352,617 (GRCm39) |
Y165C |
probably benign |
Het |
Exoc1 |
T |
C |
5: 76,690,075 (GRCm39) |
V205A |
probably benign |
Het |
Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
Fbln2 |
G |
T |
6: 91,236,749 (GRCm39) |
V755L |
probably damaging |
Het |
Fhad1 |
A |
T |
4: 141,623,779 (GRCm39) |
V1371D |
possibly damaging |
Het |
Folh1 |
A |
T |
7: 86,422,460 (GRCm39) |
M59K |
probably benign |
Het |
Foxf2 |
A |
T |
13: 31,810,871 (GRCm39) |
H270L |
probably benign |
Het |
Gm14401 |
G |
A |
2: 176,778,109 (GRCm39) |
R65H |
probably benign |
Het |
Gpn1 |
C |
A |
5: 31,655,737 (GRCm39) |
Y592* |
probably null |
Het |
Hmcn1 |
T |
G |
1: 150,471,645 (GRCm39) |
D4903A |
probably benign |
Het |
Hnf1a |
T |
C |
5: 115,093,930 (GRCm39) |
R220G |
probably damaging |
Het |
Hoxd10 |
G |
A |
2: 74,522,636 (GRCm39) |
A105T |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kidins220 |
C |
T |
12: 25,107,041 (GRCm39) |
T1498I |
possibly damaging |
Het |
Klhl2 |
G |
T |
8: 65,211,225 (GRCm39) |
Y274* |
probably null |
Het |
Lmbrd1 |
A |
G |
1: 24,745,080 (GRCm39) |
Y140C |
probably damaging |
Het |
Mapk8ip3 |
G |
A |
17: 25,122,267 (GRCm39) |
T706I |
probably benign |
Het |
Mast4 |
A |
C |
13: 103,470,529 (GRCm39) |
S58A |
possibly damaging |
Het |
Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
Mmachc |
A |
T |
4: 116,560,668 (GRCm39) |
S276T |
probably damaging |
Het |
Nfat5 |
A |
T |
8: 108,095,908 (GRCm39) |
Q1289L |
probably damaging |
Het |
Nlrc4 |
G |
T |
17: 74,753,623 (GRCm39) |
F253L |
probably damaging |
Het |
Nr1i3 |
C |
A |
1: 171,044,014 (GRCm39) |
A112E |
probably benign |
Het |
Or10ac1 |
T |
A |
6: 42,515,375 (GRCm39) |
T194S |
possibly damaging |
Het |
Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
Or2b28 |
T |
C |
13: 21,531,634 (GRCm39) |
F179L |
probably damaging |
Het |
Or7g33 |
G |
T |
9: 19,448,969 (GRCm39) |
Q86K |
possibly damaging |
Het |
Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
Pde10a |
A |
C |
17: 9,200,484 (GRCm39) |
D779A |
probably damaging |
Het |
Pde4b |
T |
C |
4: 102,458,802 (GRCm39) |
L486S |
probably damaging |
Het |
Pex2 |
A |
T |
3: 5,626,341 (GRCm39) |
I156N |
probably damaging |
Het |
Phtf2 |
C |
T |
5: 20,978,738 (GRCm39) |
R63Q |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,570,446 (GRCm39) |
Y343C |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,451,697 (GRCm39) |
Y170N |
probably damaging |
Het |
Prpf6 |
A |
C |
2: 181,243,267 (GRCm39) |
K5T |
probably damaging |
Het |
Ptpn1 |
A |
G |
2: 167,809,701 (GRCm39) |
K103R |
probably benign |
Het |
Ralgapa2 |
A |
G |
2: 146,203,373 (GRCm39) |
S1159P |
possibly damaging |
Het |
Rapgef3 |
G |
T |
15: 97,656,810 (GRCm39) |
D318E |
probably damaging |
Het |
Ripk4 |
A |
T |
16: 97,545,226 (GRCm39) |
S474T |
probably damaging |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,319,405 (GRCm39) |
V1491A |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,321,080 (GRCm39) |
|
probably null |
Het |
Setd7 |
G |
T |
3: 51,450,086 (GRCm39) |
N113K |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,965,161 (GRCm39) |
T1502M |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,052,758 (GRCm39) |
C376S |
probably damaging |
Het |
Slc12a3 |
A |
T |
8: 95,056,012 (GRCm39) |
L49F |
probably benign |
Het |
Slc35d3 |
C |
T |
10: 19,725,077 (GRCm39) |
V260M |
probably damaging |
Het |
Slc46a1 |
T |
A |
11: 78,357,715 (GRCm39) |
V256E |
probably benign |
Het |
Slc6a1 |
T |
C |
6: 114,285,067 (GRCm39) |
S127P |
probably benign |
Het |
Syngr4 |
A |
G |
7: 45,536,452 (GRCm39) |
L190P |
probably damaging |
Het |
Tagap |
G |
A |
17: 8,145,773 (GRCm39) |
|
probably null |
Het |
Tamm41 |
A |
T |
6: 115,011,963 (GRCm39) |
N89K |
probably benign |
Het |
Tbc1d31 |
T |
A |
15: 57,831,308 (GRCm39) |
M922K |
probably benign |
Het |
Tbk1 |
T |
C |
10: 121,403,985 (GRCm39) |
N254S |
possibly damaging |
Het |
Tfec |
A |
G |
6: 16,840,478 (GRCm39) |
S140P |
probably damaging |
Het |
Tnrc18 |
T |
C |
5: 142,725,883 (GRCm39) |
E1802G |
unknown |
Het |
Tom1l2 |
C |
T |
11: 60,133,533 (GRCm39) |
|
probably null |
Het |
Tonsl |
T |
G |
15: 76,521,424 (GRCm39) |
K323Q |
probably damaging |
Het |
Tsnaxip1 |
A |
T |
8: 106,568,039 (GRCm39) |
E268D |
probably damaging |
Het |
Ttf1 |
C |
A |
2: 28,955,172 (GRCm39) |
H179N |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,556,517 (GRCm39) |
S30163G |
probably damaging |
Het |
Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
Ugt1a10 |
G |
A |
1: 88,146,112 (GRCm39) |
R519Q |
probably damaging |
Het |
Utp25 |
T |
C |
1: 192,790,003 (GRCm39) |
T719A |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,463 (GRCm39) |
Y395C |
probably damaging |
Het |
Vwa8 |
G |
A |
14: 79,341,137 (GRCm39) |
|
probably null |
Het |
Zfp9 |
A |
G |
6: 118,441,937 (GRCm39) |
Y242H |
probably damaging |
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 |
R0416:Astn1
|
UTSW |
1 |
158,337,461 (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 |
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'- CTTTCCAGGGTGGCATGATC -3'
(R):5'- TGGTGTTAGATCCATCCCAGAC -3'
Sequencing Primer
(F):5'- GGCATGATCGCTCTGTTGCTATC -3'
(R):5'- AGACTTCTCATTGCATCCCTGTAGG -3'
|
Posted On |
2015-10-08 |