Incidental Mutation 'R6481:Astn1'
ID |
517070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Astn1
|
Ensembl Gene |
ENSMUSG00000026587 |
Gene Name |
astrotactin 1 |
Synonyms |
|
MMRRC Submission |
044613-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6481 (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 C
at 158440032 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 867
(S867P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
AlphaFold |
Q61137 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046110
AA Change: S867P
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039711 Gene: ENSMUSG00000026587 AA Change: S867P
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
|
SMART Domains |
Protein: ENSMUSP00000127428 Gene: ENSMUSG00000026587
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 benign
Transcript: ENSMUST00000193042
AA Change: S875P
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000142322 Gene: ENSMUSG00000026587 AA Change: S875P
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: ENSMUST00000194041
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194369
|
SMART Domains |
Protein: ENSMUSP00000142017 Gene: ENSMUSG00000026587
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 benign
Transcript: ENSMUST00000195311
AA Change: S867P
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141518 Gene: ENSMUSG00000026587 AA Change: S867P
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 |
0.2402 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (82/82) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931428L18Rik |
T |
C |
1: 31,261,588 (GRCm39) |
|
probably benign |
Het |
Aadacl2fm3 |
T |
C |
3: 59,768,478 (GRCm39) |
Y3H |
probably benign |
Het |
Abca9 |
G |
A |
11: 110,056,788 (GRCm39) |
Q11* |
probably null |
Het |
Abcc9 |
A |
T |
6: 142,550,621 (GRCm39) |
M1273K |
probably damaging |
Het |
Abi2 |
A |
G |
1: 60,478,098 (GRCm39) |
|
probably null |
Het |
Acsm5 |
A |
G |
7: 119,134,104 (GRCm39) |
E295G |
probably benign |
Het |
Anapc5 |
T |
C |
5: 122,938,607 (GRCm39) |
D389G |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,625,372 (GRCm39) |
D159E |
probably benign |
Het |
Arhgap26 |
T |
A |
18: 39,283,110 (GRCm39) |
M349K |
probably damaging |
Het |
Arhgef39 |
A |
G |
4: 43,498,580 (GRCm39) |
|
probably null |
Het |
Atad3a |
A |
T |
4: 155,838,098 (GRCm39) |
|
probably null |
Het |
Cadm1 |
A |
T |
9: 47,699,407 (GRCm39) |
D91V |
probably damaging |
Het |
Cc2d2b |
T |
C |
19: 40,790,839 (GRCm39) |
I933T |
possibly damaging |
Het |
Cdcp3 |
A |
T |
7: 130,858,530 (GRCm39) |
D1066V |
probably benign |
Het |
Celsr3 |
C |
G |
9: 108,714,283 (GRCm39) |
N1937K |
possibly damaging |
Het |
Cic |
A |
C |
7: 24,987,706 (GRCm39) |
T558P |
possibly damaging |
Het |
Cntln |
A |
G |
4: 84,985,747 (GRCm39) |
M933V |
probably benign |
Het |
Coch |
T |
C |
12: 51,644,956 (GRCm39) |
F170S |
probably damaging |
Het |
Col1a2 |
A |
G |
6: 4,538,680 (GRCm39) |
Y1200C |
unknown |
Het |
Col26a1 |
T |
C |
5: 136,773,032 (GRCm39) |
M383V |
probably benign |
Het |
Col4a4 |
A |
T |
1: 82,431,499 (GRCm39) |
M1595K |
unknown |
Het |
Crh |
T |
C |
3: 19,748,501 (GRCm39) |
E47G |
probably benign |
Het |
D930020B18Rik |
T |
C |
10: 121,497,053 (GRCm39) |
|
probably null |
Het |
Def6 |
G |
A |
17: 28,445,137 (GRCm39) |
R482H |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dpagt1 |
T |
C |
9: 44,242,487 (GRCm39) |
L241P |
probably damaging |
Het |
E2f7 |
A |
G |
10: 110,610,542 (GRCm39) |
E389G |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,715,174 (GRCm39) |
I53V |
probably benign |
Het |
Fbxo4 |
A |
G |
15: 3,995,216 (GRCm39) |
L376P |
probably damaging |
Het |
Fgfr2 |
A |
G |
7: 129,787,008 (GRCm39) |
S352P |
possibly damaging |
Het |
Fkbpl |
C |
A |
17: 34,864,388 (GRCm39) |
P52Q |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,309,479 (GRCm39) |
R641H |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gm12728 |
A |
G |
4: 105,651,546 (GRCm39) |
K52R |
probably damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,019,053 (GRCm39) |
D379G |
probably benign |
Het |
Gys1 |
A |
T |
7: 45,092,393 (GRCm39) |
Y332F |
possibly damaging |
Het |
Hoxa7 |
T |
A |
6: 52,193,594 (GRCm39) |
|
probably benign |
Het |
Ifitm1 |
G |
A |
7: 140,549,519 (GRCm39) |
V101I |
probably benign |
Het |
Kalrn |
T |
A |
16: 34,181,354 (GRCm39) |
T95S |
probably damaging |
Het |
Leng8 |
A |
G |
7: 4,148,412 (GRCm39) |
Y728C |
probably damaging |
Het |
Lonp2 |
G |
T |
8: 87,361,536 (GRCm39) |
D238Y |
possibly damaging |
Het |
Ltn1 |
A |
C |
16: 87,175,868 (GRCm39) |
S1757A |
probably damaging |
Het |
Man2a2 |
A |
T |
7: 80,013,819 (GRCm39) |
S411T |
probably damaging |
Het |
Mrps33 |
C |
A |
6: 39,782,304 (GRCm39) |
|
probably null |
Het |
Muc16 |
C |
T |
9: 18,461,973 (GRCm39) |
|
probably null |
Het |
Muc5ac |
A |
G |
7: 141,362,808 (GRCm39) |
|
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
Or10al6 |
T |
G |
17: 38,083,194 (GRCm39) |
F217V |
probably damaging |
Het |
Or13p8 |
A |
G |
4: 118,583,930 (GRCm39) |
Y162C |
probably damaging |
Het |
Or1j21 |
T |
A |
2: 36,683,789 (GRCm39) |
D180E |
possibly damaging |
Het |
Or4c106 |
A |
T |
2: 88,682,863 (GRCm39) |
T190S |
probably damaging |
Het |
Or55b10 |
A |
T |
7: 102,143,346 (GRCm39) |
V212D |
probably damaging |
Het |
Or5w17 |
T |
C |
2: 87,583,812 (GRCm39) |
N175S |
probably damaging |
Het |
Pag1 |
T |
A |
3: 9,764,396 (GRCm39) |
E252D |
possibly damaging |
Het |
Plcd3 |
T |
C |
11: 102,968,593 (GRCm39) |
Y366C |
probably damaging |
Het |
Psg17 |
A |
C |
7: 18,548,375 (GRCm39) |
S465R |
probably damaging |
Het |
Ptpn9 |
G |
T |
9: 56,930,324 (GRCm39) |
V50L |
probably damaging |
Het |
Rab17 |
T |
G |
1: 90,886,683 (GRCm39) |
S190R |
probably benign |
Het |
Samd11 |
A |
G |
4: 156,333,535 (GRCm39) |
|
probably null |
Het |
Slc17a5 |
A |
G |
9: 78,445,553 (GRCm39) |
F434S |
possibly damaging |
Het |
Slc22a15 |
A |
G |
3: 101,790,899 (GRCm39) |
I202T |
possibly damaging |
Het |
Slc8a1 |
G |
T |
17: 81,696,347 (GRCm39) |
Q896K |
probably benign |
Het |
Slc9a5 |
A |
T |
8: 106,085,025 (GRCm39) |
K509* |
probably null |
Het |
Slf2 |
A |
C |
19: 44,961,603 (GRCm39) |
M1041L |
probably benign |
Het |
Smn1 |
A |
G |
13: 100,265,008 (GRCm39) |
|
probably null |
Het |
Snx9 |
T |
C |
17: 5,972,484 (GRCm39) |
|
probably null |
Het |
Soat2 |
T |
A |
15: 102,070,490 (GRCm39) |
L431Q |
probably damaging |
Het |
Spam1 |
T |
A |
6: 24,796,929 (GRCm39) |
N293K |
probably benign |
Het |
Tatdn1 |
T |
C |
15: 58,795,760 (GRCm39) |
T66A |
possibly damaging |
Het |
Tmprss11g |
A |
T |
5: 86,640,015 (GRCm39) |
S205T |
probably benign |
Het |
Tnpo3 |
G |
T |
6: 29,571,100 (GRCm39) |
N431K |
possibly damaging |
Het |
Trim39 |
T |
C |
17: 36,579,554 (GRCm39) |
T31A |
probably benign |
Het |
Trmt9b |
T |
C |
8: 36,965,637 (GRCm39) |
|
probably null |
Het |
Tshz3 |
A |
G |
7: 36,451,764 (GRCm39) |
|
probably null |
Het |
Ttll11 |
G |
A |
2: 35,792,766 (GRCm39) |
T359M |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,571,843 (GRCm39) |
D26350A |
probably damaging |
Het |
Ubr4 |
G |
T |
4: 139,159,062 (GRCm39) |
V2472F |
probably damaging |
Het |
Vsx2 |
C |
T |
12: 84,639,878 (GRCm39) |
P265S |
probably benign |
Het |
Wdr90 |
C |
T |
17: 26,064,885 (GRCm39) |
G1708R |
probably damaging |
Het |
Wnt11 |
A |
G |
7: 98,502,481 (GRCm39) |
Y351C |
probably damaging |
Het |
Xpo6 |
A |
C |
7: 125,712,057 (GRCm39) |
N3K |
probably damaging |
Het |
Zfp445 |
A |
G |
9: 122,686,631 (GRCm39) |
S165P |
probably benign |
Het |
Zfp953 |
A |
T |
13: 67,496,001 (GRCm39) |
Y13* |
probably null |
Het |
Zftraf1 |
T |
C |
15: 76,542,908 (GRCm39) |
|
probably null |
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 |
|
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'- GCCTAGGAATCCATGTACCTAAC -3'
(R):5'- TGCATATAAGCCCACAGAATTGAG -3'
Sequencing Primer
(F):5'- AGCAATGCTCTTCACTCC -3'
(R):5'- TGAGGGCAATCTGAATTAGTCC -3'
|
Posted On |
2018-05-21 |