Incidental Mutation 'R7412:Astn1'
ID |
575122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Astn1
|
Ensembl Gene |
ENSMUSG00000026587 |
Gene Name |
astrotactin 1 |
Synonyms |
|
MMRRC Submission |
045493-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R7412 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 158329919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 258
(M258R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
AlphaFold |
Q61137 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046110
AA Change: M258R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039711 Gene: ENSMUSG00000026587 AA Change: M258R
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 |
probably benign
Transcript: ENSMUST00000170718
AA Change: M258R
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000127428 Gene: ENSMUSG00000026587 AA Change: M258R
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 |
probably damaging
Transcript: ENSMUST00000193042
AA Change: M258R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142322 Gene: ENSMUSG00000026587 AA Change: M258R
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 |
probably benign
Transcript: ENSMUST00000194369
AA Change: M258R
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000142017 Gene: ENSMUSG00000026587 AA Change: M258R
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: M258R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141518 Gene: ENSMUSG00000026587 AA Change: M258R
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 |
0.2838 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (71/73) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,448,691 (GRCm39) |
Y335* |
probably null |
Het |
Alpk1 |
A |
T |
3: 127,466,143 (GRCm39) |
L1121Q |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,489,382 (GRCm39) |
I99T |
probably damaging |
Het |
Ap2a2 |
T |
A |
7: 141,206,049 (GRCm39) |
F717I |
probably damaging |
Het |
Arhgap33 |
C |
T |
7: 30,222,477 (GRCm39) |
D1152N |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,220,350 (GRCm39) |
D642G |
probably benign |
Het |
Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
Carmil1 |
T |
C |
13: 24,282,793 (GRCm39) |
D547G |
possibly damaging |
Het |
Ccdc177 |
A |
G |
12: 80,805,792 (GRCm39) |
F161L |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cnot10 |
A |
G |
9: 114,454,971 (GRCm39) |
Y221H |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,755,855 (GRCm39) |
I145F |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,801,434 (GRCm39) |
T865A |
probably benign |
Het |
Cyp4f37 |
A |
G |
17: 32,848,818 (GRCm39) |
S229G |
possibly damaging |
Het |
Ddx56 |
G |
A |
11: 6,211,720 (GRCm39) |
T462I |
probably damaging |
Het |
Dhx30 |
T |
C |
9: 109,921,966 (GRCm39) |
M239V |
probably benign |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,597,173 (GRCm39) |
K994E |
probably damaging |
Het |
Fam83a |
A |
C |
15: 57,849,821 (GRCm39) |
T122P |
probably benign |
Het |
Fbxo24 |
C |
A |
5: 137,617,885 (GRCm39) |
C293F |
possibly damaging |
Het |
Fech |
A |
T |
18: 64,591,255 (GRCm39) |
S390T |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,762,748 (GRCm39) |
H750R |
probably benign |
Het |
Frmpd2 |
A |
G |
14: 33,293,926 (GRCm39) |
D1364G |
probably benign |
Het |
Ganab |
T |
C |
19: 8,889,892 (GRCm39) |
I652T |
probably benign |
Het |
Gm21103 |
T |
A |
14: 17,482,943 (GRCm39) |
T153S |
probably benign |
Het |
Gm21886 |
GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG |
GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG |
18: 80,132,967 (GRCm39) |
|
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,781,995 (GRCm39) |
I56V |
possibly damaging |
Het |
Gm7276 |
T |
C |
18: 77,273,183 (GRCm39) |
R184G |
unknown |
Het |
Gmip |
T |
G |
8: 70,273,149 (GRCm39) |
D845E |
probably benign |
Het |
Hspa9 |
T |
C |
18: 35,082,082 (GRCm39) |
K175E |
probably damaging |
Het |
Ipo13 |
A |
G |
4: 117,752,068 (GRCm39) |
F890L |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,522,963 (GRCm39) |
V160D |
probably benign |
Het |
Klrb1f |
C |
T |
6: 129,033,308 (GRCm39) |
R179* |
probably null |
Het |
Nasp |
A |
G |
4: 116,467,785 (GRCm39) |
V400A |
possibly damaging |
Het |
Ncoa7 |
T |
A |
10: 30,598,847 (GRCm39) |
K25N |
possibly damaging |
Het |
Ndrg1 |
A |
C |
15: 66,832,382 (GRCm39) |
M1R |
probably null |
Het |
Nf1 |
G |
A |
11: 79,364,240 (GRCm39) |
A1557T |
probably damaging |
Het |
Nrde2 |
G |
A |
12: 100,108,509 (GRCm39) |
Q361* |
probably null |
Het |
Opn1sw |
A |
T |
6: 29,379,856 (GRCm39) |
L126Q |
probably damaging |
Het |
Or10ak16 |
A |
T |
4: 118,750,327 (GRCm39) |
I16F |
possibly damaging |
Het |
Or1af1 |
C |
T |
2: 37,109,774 (GRCm39) |
T91I |
possibly damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,478 (GRCm39) |
L140P |
probably benign |
Het |
Or5au1 |
A |
T |
14: 52,273,310 (GRCm39) |
L86* |
probably null |
Het |
Or7g17 |
A |
T |
9: 18,768,085 (GRCm39) |
I46F |
possibly damaging |
Het |
Or8g50 |
T |
C |
9: 39,648,422 (GRCm39) |
F104L |
probably benign |
Het |
Osmr |
A |
G |
15: 6,853,048 (GRCm39) |
Y616H |
probably damaging |
Het |
Pagr1a |
T |
C |
7: 126,615,736 (GRCm39) |
T120A |
probably benign |
Het |
Patj |
A |
G |
4: 98,299,376 (GRCm39) |
E166G |
probably damaging |
Het |
Plk4 |
G |
A |
3: 40,766,613 (GRCm39) |
V764I |
probably benign |
Het |
Polr3h |
G |
A |
15: 81,800,602 (GRCm39) |
|
probably null |
Het |
Ptprb |
T |
A |
10: 116,177,043 (GRCm39) |
D989E |
probably benign |
Het |
Sdk2 |
A |
T |
11: 113,758,909 (GRCm39) |
|
probably null |
Het |
Setd1b |
C |
A |
5: 123,290,639 (GRCm39) |
R869S |
unknown |
Het |
Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
Skint8 |
G |
A |
4: 111,785,758 (GRCm39) |
G68D |
probably benign |
Het |
Slc22a7 |
A |
T |
17: 46,745,553 (GRCm39) |
V326E |
probably benign |
Het |
Slc39a1 |
T |
G |
3: 90,156,396 (GRCm39) |
L38R |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,362,506 (GRCm39) |
|
probably null |
Het |
Sptlc3 |
A |
G |
2: 139,431,537 (GRCm39) |
E353G |
possibly damaging |
Het |
Ssh2 |
G |
T |
11: 77,340,934 (GRCm39) |
L695F |
probably damaging |
Het |
Tacr2 |
C |
A |
10: 62,097,427 (GRCm39) |
Y302* |
probably null |
Het |
Tas2r117 |
T |
C |
6: 132,780,192 (GRCm39) |
L110P |
probably damaging |
Het |
Tex9 |
A |
T |
9: 72,394,060 (GRCm39) |
|
probably null |
Het |
Tmem17 |
A |
T |
11: 22,468,645 (GRCm39) |
T195S |
probably benign |
Het |
Trcg1 |
T |
A |
9: 57,148,766 (GRCm39) |
S113T |
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,954,422 (GRCm39) |
F826I |
probably benign |
Het |
Usp17lc |
A |
G |
7: 103,067,575 (GRCm39) |
Y290C |
probably damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,477,212 (GRCm39) |
D393V |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,871,541 (GRCm39) |
L290P |
|
Het |
Xpnpep1 |
G |
C |
19: 52,994,722 (GRCm39) |
A302G |
probably benign |
Het |
Xrn2 |
T |
C |
2: 146,891,266 (GRCm39) |
L692P |
probably damaging |
Het |
Zgrf1 |
A |
G |
3: 127,356,720 (GRCm39) |
S649G |
probably benign |
Het |
Zscan4b |
C |
T |
7: 10,634,791 (GRCm39) |
C484Y |
probably damaging |
Het |
Zscan4b |
T |
C |
7: 10,635,820 (GRCm39) |
D169G |
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 |
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 |
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 |
|
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'- GGCAGCAAATGAGATTCACTAC -3'
(R):5'- AACAGGTTATTTGGGTCCACC -3'
Sequencing Primer
(F):5'- ACATCCCATCTGTGCTGATTGGAG -3'
(R):5'- GAAAGGCATTGGTACATCTTGC -3'
|
Posted On |
2019-10-07 |