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: 0.100)
|
| 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 |
Incidental Mutation