Incidental Mutation 'R2007:Astn1'
| ID |
222439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
040016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 158436875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 811
(V811G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046110
AA Change: V811G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: V811G
| 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: V819G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: V819G
| 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 |
possibly damaging
Transcript: ENSMUST00000193042
AA Change: V819G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: V819G
| 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 |
possibly damaging
Transcript: ENSMUST00000194369
AA Change: V811G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: V811G
| 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 |
possibly damaging
Transcript: ENSMUST00000195311
AA Change: V811G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: V811G
| 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 |
0.1791 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (66/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,519,855 (GRCm39) |
N1387K |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,141,987 (GRCm39) |
F8L |
probably benign |
Het |
| Abcg5 |
G |
T |
17: 84,977,348 (GRCm39) |
L270M |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,772,814 (GRCm39) |
L489S |
probably damaging |
Het |
| Acsf2 |
G |
A |
11: 94,462,466 (GRCm39) |
T183I |
possibly damaging |
Het |
| Adamts7 |
A |
T |
9: 90,059,909 (GRCm39) |
E282V |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,015,770 (GRCm39) |
G440R |
possibly damaging |
Het |
| AI429214 |
G |
A |
8: 37,460,923 (GRCm39) |
V24I |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,925,634 (GRCm39) |
I320T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,665 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Bard1 |
C |
T |
1: 71,070,562 (GRCm39) |
V641I |
probably benign |
Het |
| Calb2 |
T |
C |
8: 110,894,702 (GRCm39) |
E23G |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,863,730 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,154,171 (GRCm39) |
|
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,118,616 (GRCm39) |
I728V |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,951,268 (GRCm39) |
G281V |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,656,141 (GRCm39) |
G586E |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,833 (GRCm39) |
D66V |
probably damaging |
Het |
| Csde1 |
A |
T |
3: 102,952,107 (GRCm39) |
I204L |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,532 (GRCm39) |
V2670E |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,124,578 (GRCm39) |
V428A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,840,489 (GRCm39) |
D530V |
probably benign |
Het |
| Dis3l |
A |
T |
9: 64,215,558 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,265,093 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,798,814 (GRCm39) |
|
probably null |
Het |
| En1 |
A |
T |
1: 120,531,133 (GRCm39) |
E124D |
probably benign |
Het |
| Exo1 |
G |
A |
1: 175,736,096 (GRCm39) |
E827K |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,735,099 (GRCm39) |
F246L |
possibly damaging |
Het |
| Fndc1 |
G |
A |
17: 7,997,580 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
G |
A |
6: 15,396,818 (GRCm39) |
C381Y |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,595,047 (GRCm39) |
Y485N |
probably damaging |
Het |
| Gemin4 |
G |
A |
11: 76,103,444 (GRCm39) |
A439V |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,391,657 (GRCm39) |
I155T |
unknown |
Het |
| Hmcn2 |
A |
G |
2: 31,328,267 (GRCm39) |
D4316G |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,046,824 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
A |
7: 105,244,781 (GRCm39) |
R135C |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,559,629 (GRCm39) |
E151A |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,562 (GRCm39) |
L309H |
probably damaging |
Het |
| Lce1c |
G |
T |
3: 92,587,765 (GRCm39) |
C64F |
unknown |
Het |
| Marchf6 |
C |
T |
15: 31,462,087 (GRCm39) |
|
probably null |
Het |
| Myt1 |
C |
A |
2: 181,437,552 (GRCm39) |
R88S |
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,529,446 (GRCm39) |
S194G |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,639,111 (GRCm39) |
K914R |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,212 (GRCm39) |
T282S |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,951,265 (GRCm39) |
M270T |
probably benign |
Het |
| Parg |
T |
C |
14: 31,932,531 (GRCm39) |
M457T |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,129,874 (GRCm39) |
M482T |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,941,472 (GRCm39) |
T1598I |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,798,759 (GRCm39) |
M2689T |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,944,216 (GRCm39) |
V1091E |
probably damaging |
Het |
| Ptcd2 |
A |
T |
13: 99,456,744 (GRCm39) |
L360Q |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,821,110 (GRCm39) |
T65S |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,166,176 (GRCm39) |
T1486I |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,968 (GRCm39) |
L949P |
probably damaging |
Het |
| Ssc5d |
T |
G |
7: 4,931,628 (GRCm39) |
C278W |
probably damaging |
Het |
| Tbc1d14 |
T |
G |
5: 36,728,718 (GRCm39) |
H216P |
possibly damaging |
Het |
| Tmem183a |
A |
G |
1: 134,277,861 (GRCm39) |
F301S |
probably damaging |
Het |
| Tmem233 |
A |
C |
5: 116,189,496 (GRCm39) |
N94K |
possibly damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,243,843 (GRCm39) |
D193G |
probably damaging |
Het |
| Tprkb |
T |
C |
6: 85,910,030 (GRCm39) |
|
probably benign |
Het |
| Tram1l1 |
A |
G |
3: 124,115,488 (GRCm39) |
H216R |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,484 (GRCm39) |
V28551A |
probably damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,547 (GRCm39) |
N25S |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,542,935 (GRCm39) |
N396K |
probably damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,012 (GRCm39) |
L79P |
probably damaging |
Het |
| Vmn2r115 |
G |
T |
17: 23,566,927 (GRCm39) |
V480F |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,824,101 (GRCm39) |
I995V |
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 |
|
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'- GACTACTCTCCTAGAAAGTCTCTTC -3'
(R):5'- TCTATCCATTTGCCCTGAAGAG -3'
Sequencing Primer
(F):5'- TCTCCTAGAAAGTCTCTTCATCAAAG -3'
(R):5'- TGCCCTGAAGAGTCAATCTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation