Incidental Mutation 'R9355:Astn1'
| ID |
708306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R9355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 158511721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1188
(L1188F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000192821]
[ENSMUST00000193042]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046110
AA Change: L1180F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: L1180F
| 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 |
unknown
Transcript: ENSMUST00000192821
AA Change: P221L
|
| SMART Domains |
Protein: ENSMUSP00000141260
Gene: ENSMUSG00000026587
AA Change: P221L
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
46 |
158 |
2.8e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193042
AA Change: L1188F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: L1188F
| 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: ENSMUST00000195311
|
| SMART Domains |
Protein: ENSMUSP00000141518
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 |
|
MACPF
|
803 |
991 |
6.2e-59 |
SMART |
|
FN3
|
1022 |
1134 |
2.8e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
A |
G |
7: 140,681,817 (GRCm39) |
V747A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,270,000 (GRCm39) |
P383L |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,849,630 (GRCm39) |
E407G |
probably benign |
Het |
| Atg2b |
G |
A |
12: 105,636,980 (GRCm39) |
P179S |
possibly damaging |
Het |
| Bcl9l |
G |
A |
9: 44,419,000 (GRCm39) |
R983H |
probably benign |
Het |
| Bmp2k |
T |
A |
5: 97,211,366 (GRCm39) |
Y511* |
probably null |
Het |
| C1galt1 |
G |
T |
6: 7,866,474 (GRCm39) |
V107F |
probably damaging |
Het |
| Car3 |
T |
A |
3: 14,928,664 (GRCm39) |
N11K |
|
Het |
| Ccdc170 |
A |
G |
10: 4,508,695 (GRCm39) |
R640G |
probably benign |
Het |
| Cep126 |
A |
G |
9: 8,100,038 (GRCm39) |
V832A |
possibly damaging |
Het |
| Ces1h |
C |
T |
8: 94,101,149 (GRCm39) |
V49I |
|
Het |
| Clasp2 |
T |
A |
9: 113,664,309 (GRCm39) |
V310D |
probably damaging |
Het |
| Comp |
C |
T |
8: 70,828,699 (GRCm39) |
T177M |
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,003,726 (GRCm39) |
S98G |
probably damaging |
Het |
| Cpa6 |
C |
T |
1: 10,479,520 (GRCm39) |
V238I |
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,962,094 (GRCm39) |
F397S |
probably damaging |
Het |
| Dcpp1 |
C |
A |
17: 24,099,987 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Dzip1l |
A |
G |
9: 99,543,144 (GRCm39) |
D533G |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,844,114 (GRCm39) |
S551T |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,253,890 (GRCm39) |
E524G |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,935,806 (GRCm39) |
Y476C |
probably damaging |
Het |
| Erich5 |
G |
T |
15: 34,471,001 (GRCm39) |
V77F |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,036,047 (GRCm39) |
Y3233C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,716 (GRCm39) |
V521E |
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gm5624 |
A |
T |
14: 44,799,272 (GRCm39) |
L95* |
probably null |
Het |
| Gphn |
A |
G |
12: 78,538,968 (GRCm39) |
T205A |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,767,597 (GRCm39) |
A28S |
possibly damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,120 (GRCm39) |
S300P |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,723 (GRCm39) |
L227P |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,328,302 (GRCm39) |
M4328L |
probably benign |
Het |
| Htt |
A |
T |
5: 35,053,247 (GRCm39) |
M2527L |
probably benign |
Het |
| Impdh2 |
A |
T |
9: 108,442,402 (GRCm39) |
H466L |
probably benign |
Het |
| Itgae |
G |
A |
11: 73,006,906 (GRCm39) |
G384D |
probably damaging |
Het |
| Krt90 |
T |
C |
15: 101,461,714 (GRCm39) |
S496G |
unknown |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,114 (GRCm39) |
S179P |
unknown |
Het |
| Lif |
C |
T |
11: 4,219,044 (GRCm39) |
R63W |
probably damaging |
Het |
| Lrrc10 |
T |
C |
10: 116,881,881 (GRCm39) |
V185A |
probably damaging |
Het |
| Lrrc27 |
A |
C |
7: 138,822,648 (GRCm39) |
Q513P |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Map2k3 |
T |
C |
11: 60,823,055 (GRCm39) |
S3P |
possibly damaging |
Het |
| Mc2r |
T |
C |
18: 68,541,195 (GRCm39) |
T33A |
probably benign |
Het |
| Mefv |
T |
A |
16: 3,525,882 (GRCm39) |
D795V |
probably damaging |
Het |
| Megf6 |
A |
T |
4: 154,338,282 (GRCm39) |
R451W |
probably damaging |
Het |
| Mrpl21 |
G |
A |
19: 3,336,937 (GRCm39) |
V103M |
probably damaging |
Het |
| Mtmr14 |
GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC |
GCCGCCGCCTC |
6: 113,214,948 (GRCm39) |
|
probably null |
Het |
| Myom1 |
T |
C |
17: 71,384,888 (GRCm39) |
S760P |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,403,246 (GRCm39) |
Y451C |
probably damaging |
Het |
| Nkain4 |
T |
C |
2: 180,577,775 (GRCm39) |
N193S |
possibly damaging |
Het |
| Opa1 |
T |
A |
16: 29,432,807 (GRCm39) |
L490H |
probably damaging |
Het |
| Opcml |
A |
C |
9: 28,814,650 (GRCm39) |
I301L |
probably benign |
Het |
| Or10ak16 |
G |
A |
4: 118,750,784 (GRCm39) |
S168N |
probably benign |
Het |
| Or1e33 |
A |
G |
11: 73,738,643 (GRCm39) |
F103L |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,576,749 (GRCm39) |
I161N |
probably damaging |
Het |
| Or52s19 |
T |
C |
7: 103,008,125 (GRCm39) |
H92R |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,884,469 (GRCm39) |
L402P |
probably benign |
Het |
| Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
| Peak1 |
G |
T |
9: 56,167,454 (GRCm39) |
A158E |
probably damaging |
Het |
| Ppfibp2 |
C |
T |
7: 107,322,169 (GRCm39) |
P406L |
probably benign |
Het |
| Qpctl |
T |
C |
7: 18,875,146 (GRCm39) |
H362R |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,885,694 (GRCm39) |
H643R |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,584,160 (GRCm39) |
L1485Q |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,594,433 (GRCm39) |
I1761F |
probably damaging |
Het |
| Scrn3 |
A |
G |
2: 73,166,077 (GRCm39) |
D370G |
probably benign |
Het |
| Sec24b |
A |
T |
3: 129,787,489 (GRCm39) |
F877Y |
possibly damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,108,967 (GRCm39) |
I172T |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,622,544 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
C |
T |
8: 106,991,825 (GRCm39) |
V243M |
probably damaging |
Het |
| Sos1 |
T |
A |
17: 80,722,479 (GRCm39) |
I856F |
possibly damaging |
Het |
| Sp2 |
A |
T |
11: 96,852,231 (GRCm39) |
L231H |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,318,255 (GRCm39) |
Y457C |
probably damaging |
Het |
| Tdpoz6 |
T |
C |
3: 93,600,307 (GRCm39) |
T21A |
possibly damaging |
Het |
| Tekt5 |
T |
C |
16: 10,213,268 (GRCm39) |
T6A |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,262,529 (GRCm39) |
T574K |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,633,821 (GRCm39) |
S313P |
probably damaging |
Het |
| Trmt12 |
G |
A |
15: 58,744,824 (GRCm39) |
C74Y |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,649,473 (GRCm39) |
D561G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,700,769 (GRCm39) |
V62A |
|
Het |
| Tubgcp5 |
T |
C |
7: 55,467,177 (GRCm39) |
|
probably null |
Het |
| Unc13a |
C |
T |
8: 72,098,375 (GRCm39) |
V1137M |
possibly damaging |
Het |
| Zfp729a |
A |
G |
13: 67,767,515 (GRCm39) |
C905R |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,602,362 (GRCm39) |
I435M |
probably benign |
Het |
| Zswim4 |
C |
A |
8: 84,955,687 (GRCm39) |
G271W |
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 |
|
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 |
|
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'- GCGTATGCCTTGTGTGTATCAC -3'
(R):5'- TGCAACTTCCATGAAGAACTGTAAC -3'
Sequencing Primer
(F):5'- GTAGACTACACCATCTAGAGCTGTG -3'
(R):5'- TCCATGAAGAACTGTAACAACATGAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation