Incidental Mutation 'PIT4366001:Astn1'
ID |
554735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Astn1
|
Ensembl Gene |
ENSMUSG00000026587 |
Gene Name |
astrotactin 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
PIT4366001 (G1)
|
Quality Score |
189.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 158424779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 655
(H655L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000193599]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
AlphaFold |
Q61137 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046110
AA Change: H647L
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039711 Gene: ENSMUSG00000026587 AA Change: H647L
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: ENSMUST00000170718
AA Change: H655L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127428 Gene: ENSMUSG00000026587 AA Change: H655L
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: H655L
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142322 Gene: ENSMUSG00000026587 AA Change: H655L
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: ENSMUST00000193599
AA Change: H145L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000141498 Gene: ENSMUSG00000026587 AA Change: H145L
Domain | Start | End | E-Value | Type |
EGF
|
101 |
142 |
1.1e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194369
AA Change: H647L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142017 Gene: ENSMUSG00000026587 AA Change: H647L
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: H647L
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000141518 Gene: ENSMUSG00000026587 AA Change: H647L
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: 93.0%
- 3x: 90.7%
- 10x: 85.5%
- 20x: 73.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
A |
11: 119,901,786 (GRCm39) |
S870I |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,244,962 (GRCm39) |
V2275A |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,899,833 (GRCm39) |
K278R |
probably damaging |
Het |
Adcy2 |
TA |
TAA |
13: 68,858,109 (GRCm39) |
|
probably benign |
Het |
Add3 |
C |
T |
19: 53,205,298 (GRCm39) |
P16L |
unknown |
Het |
Akap9 |
T |
A |
5: 4,096,221 (GRCm39) |
D2365E |
probably benign |
Het |
Asah1 |
A |
G |
8: 41,796,783 (GRCm39) |
S300P |
possibly damaging |
Het |
Bmpr1b |
T |
A |
3: 141,586,224 (GRCm39) |
T13S |
probably benign |
Het |
Camsap2 |
A |
G |
1: 136,208,055 (GRCm39) |
F478L |
|
Het |
Card10 |
G |
A |
15: 78,671,631 (GRCm39) |
S611L |
probably benign |
Het |
Cep68 |
T |
C |
11: 20,190,007 (GRCm39) |
N335S |
probably benign |
Het |
Chac1 |
T |
C |
2: 119,181,986 (GRCm39) |
W35R |
probably damaging |
Het |
Cntn6 |
T |
C |
6: 104,809,498 (GRCm39) |
V511A |
probably benign |
Het |
Cpne9 |
G |
T |
6: 113,271,707 (GRCm39) |
G356W |
probably damaging |
Het |
Dnah10 |
C |
A |
5: 124,852,588 (GRCm39) |
T1939K |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,573,438 (GRCm39) |
N239D |
probably benign |
Het |
Dock5 |
T |
C |
14: 68,062,123 (GRCm39) |
K415R |
possibly damaging |
Het |
Dtd2 |
C |
A |
12: 52,046,582 (GRCm39) |
D86Y |
probably damaging |
Het |
Efcab9 |
A |
G |
11: 32,473,608 (GRCm39) |
F127S |
probably damaging |
Het |
Ermp1 |
T |
C |
19: 29,606,189 (GRCm39) |
H375R |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,560,622 (GRCm39) |
M1295K |
probably damaging |
Het |
Gbp7 |
T |
G |
3: 142,248,712 (GRCm39) |
I325R |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,227,677 (GRCm39) |
K1493E |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,226,214 (GRCm39) |
E234V |
probably null |
Het |
Itpr1 |
T |
A |
6: 108,470,718 (GRCm39) |
C2215* |
probably null |
Het |
Ltn1 |
G |
A |
16: 87,177,728 (GRCm39) |
R1634* |
probably null |
Het |
Lynx1 |
A |
T |
15: 74,623,258 (GRCm39) |
M58K |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,410,684 (GRCm39) |
V484A |
probably benign |
Het |
Map3k9 |
C |
T |
12: 81,819,535 (GRCm39) |
V240M |
possibly damaging |
Het |
Mars1 |
A |
G |
10: 127,135,267 (GRCm39) |
M608T |
possibly damaging |
Het |
Mc2r |
T |
C |
18: 68,540,826 (GRCm39) |
M156V |
probably benign |
Het |
Mchr1 |
G |
T |
15: 81,121,417 (GRCm39) |
V56L |
probably benign |
Het |
Mlxip |
C |
T |
5: 123,533,173 (GRCm39) |
P61S |
probably benign |
Het |
Mtarc1 |
A |
G |
1: 184,539,383 (GRCm39) |
F96S |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,575,542 (GRCm39) |
T1557A |
unknown |
Het |
Myt1 |
T |
C |
2: 181,467,731 (GRCm39) |
V1135A |
probably damaging |
Het |
Ndufaf6 |
A |
T |
4: 11,073,215 (GRCm39) |
S76T |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,208,149 (GRCm39) |
Y665C |
probably damaging |
Het |
Oaz3 |
T |
G |
3: 94,340,901 (GRCm39) |
R215S |
unknown |
Het |
Or10x1 |
T |
C |
1: 174,196,656 (GRCm39) |
Y58H |
probably damaging |
Het |
Or5m10b |
T |
C |
2: 85,699,226 (GRCm39) |
C97R |
probably damaging |
Het |
Or5m8 |
A |
T |
2: 85,822,385 (GRCm39) |
N75Y |
probably damaging |
Het |
Or5w1b |
C |
T |
2: 87,475,534 (GRCm39) |
W311* |
probably null |
Het |
Perm1 |
G |
T |
4: 156,303,192 (GRCm39) |
V579L |
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,404,788 (GRCm39) |
V140A |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,842 (GRCm39) |
S228T |
probably damaging |
Het |
Plekhn1 |
T |
G |
4: 156,309,268 (GRCm39) |
T213P |
probably damaging |
Het |
Pomt2 |
A |
T |
12: 87,163,303 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
A |
G |
5: 145,088,145 (GRCm39) |
V622A |
probably benign |
Het |
Ptn |
T |
A |
6: 36,718,284 (GRCm39) |
H127L |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,462,015 (GRCm39) |
M1193L |
probably benign |
Het |
Ptpru |
G |
A |
4: 131,527,023 (GRCm39) |
P650S |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,783,390 (GRCm39) |
L613Q |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,582,446 (GRCm39) |
T1458A |
probably damaging |
Het |
Sap130 |
C |
T |
18: 31,810,462 (GRCm39) |
A470V |
probably benign |
Het |
Sertad2 |
C |
A |
11: 20,598,116 (GRCm39) |
P104Q |
probably benign |
Het |
Sfrp4 |
A |
T |
13: 19,814,414 (GRCm39) |
M324L |
unknown |
Het |
Sh3bp4 |
A |
G |
1: 89,073,156 (GRCm39) |
N668S |
probably benign |
Het |
Snx30 |
C |
A |
4: 59,894,653 (GRCm39) |
D410E |
probably benign |
Het |
Spata31 |
C |
A |
13: 65,069,319 (GRCm39) |
S489* |
probably null |
Het |
Taok3 |
T |
A |
5: 117,366,050 (GRCm39) |
M367K |
probably benign |
Het |
Tfap2a |
T |
C |
13: 40,874,850 (GRCm39) |
N254D |
possibly damaging |
Het |
Tgtp1 |
T |
G |
11: 48,877,867 (GRCm39) |
L279F |
possibly damaging |
Het |
Tmpo |
A |
G |
10: 90,999,172 (GRCm39) |
F205S |
probably damaging |
Het |
Tmprss5 |
A |
T |
9: 49,023,517 (GRCm39) |
I218L |
probably benign |
Het |
Tti2 |
A |
G |
8: 31,641,224 (GRCm39) |
E116G |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,695,205 (GRCm39) |
N402K |
possibly 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 |
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 |
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'- ATGCAAATGTGAGTTGTGCCC -3'
(R):5'- TTTTCAGCCTGGAAAGTCCCTC -3'
Sequencing Primer
(F):5'- ATGTGAGTTGTGCCCAGAGAG -3'
(R):5'- TGGAAAGTCCCTCAGCCCAG -3'
|
Posted On |
2019-06-07 |