Incidental Mutation 'R9013:Astn1'
| ID |
685733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
068843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R9013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 158348070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 507
(I507F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046110
AA Change: I499F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: I499F
| 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: I507F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: I507F
| 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 damaging
Transcript: ENSMUST00000193042
AA Change: I507F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: I507F
| 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: ENSMUST00000194369
AA Change: I499F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: I499F
| 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 damaging
Transcript: ENSMUST00000195311
AA Change: I499F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: I499F
| 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 |
0.2717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
G |
T |
14: 70,394,176 (GRCm39) |
L200I |
probably damaging |
Het |
| Afap1 |
G |
A |
5: 36,133,932 (GRCm39) |
D456N |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,671,594 (GRCm39) |
D92V |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,883,658 (GRCm39) |
I841T |
probably benign |
Het |
| Asb1 |
T |
C |
1: 91,480,163 (GRCm39) |
|
probably null |
Het |
| Astn2 |
A |
G |
4: 65,910,584 (GRCm39) |
M468T |
probably benign |
Het |
| C030006K11Rik |
T |
C |
15: 76,608,004 (GRCm39) |
S5G |
probably benign |
Het |
| C9 |
A |
T |
15: 6,516,193 (GRCm39) |
D332V |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,719,266 (GRCm39) |
S423T |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,929,649 (GRCm39) |
I315V |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,228,106 (GRCm39) |
I91N |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,272,270 (GRCm39) |
I707L |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,229,019 (GRCm39) |
V154A |
possibly damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,890,173 (GRCm39) |
H281L |
probably benign |
Het |
| D130052B06Rik |
T |
G |
11: 33,573,491 (GRCm39) |
C74W |
unknown |
Het |
| Dap |
G |
A |
15: 31,273,344 (GRCm39) |
G66D |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,297,566 (GRCm39) |
H370L |
probably benign |
Het |
| Dgka |
C |
A |
10: 128,566,071 (GRCm39) |
E360* |
probably null |
Het |
| Dst |
A |
G |
1: 34,217,165 (GRCm39) |
I1202V |
possibly damaging |
Het |
| Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
| Gpx2 |
A |
G |
12: 76,842,118 (GRCm39) |
L11P |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,789,970 (GRCm39) |
L26S |
probably damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,475,740 (GRCm39) |
K163R |
probably benign |
Het |
| Hsd3b1 |
A |
T |
3: 98,759,977 (GRCm39) |
L338Q |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,732,576 (GRCm39) |
S67G |
probably benign |
Het |
| Kcnc2 |
C |
T |
10: 112,107,723 (GRCm39) |
A38V |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,449,368 (GRCm39) |
Y180F |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,332 (GRCm39) |
D169G |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,761,208 (GRCm39) |
K214E |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,189 (GRCm39) |
V648D |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,050,931 (GRCm39) |
G607D |
probably damaging |
Het |
| Lysmd3 |
T |
A |
13: 81,817,580 (GRCm39) |
S186T |
probably damaging |
Het |
| Meis1 |
G |
T |
11: 18,966,354 (GRCm39) |
D6E |
probably benign |
Het |
| Mfsd4b2 |
T |
G |
10: 39,798,062 (GRCm39) |
T98P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,424,069 (GRCm39) |
E8193V |
possibly damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,026 (GRCm39) |
T37A |
probably damaging |
Het |
| Nr5a2 |
A |
T |
1: 136,872,745 (GRCm39) |
D112E |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,943,497 (GRCm39) |
I214T |
probably damaging |
Het |
| Omp |
A |
G |
7: 97,794,552 (GRCm39) |
M25T |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,441 (GRCm39) |
V115M |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,179 (GRCm39) |
R22W |
probably benign |
Het |
| Or13c9 |
C |
A |
4: 52,935,900 (GRCm39) |
A128S |
probably benign |
Het |
| Or5p58 |
A |
G |
7: 107,694,471 (GRCm39) |
I102T |
probably benign |
Het |
| Or6c210 |
T |
C |
10: 129,495,702 (GRCm39) |
F9S |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,899,874 (GRCm39) |
I197F |
possibly damaging |
Het |
| Paf1 |
A |
G |
7: 28,098,133 (GRCm39) |
E381G |
unknown |
Het |
| Pcdhga8 |
A |
G |
18: 37,858,997 (GRCm39) |
T18A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,627 (GRCm39) |
S2162P |
unknown |
Het |
| Psg25 |
T |
C |
7: 18,258,690 (GRCm39) |
I329V |
probably benign |
Het |
| Ptov1 |
A |
G |
7: 44,514,985 (GRCm39) |
S209P |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,279,060 (GRCm39) |
K397E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,618,618 (GRCm39) |
T3866S |
probably damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,652,371 (GRCm39) |
V41I |
probably benign |
Het |
| Sdf2l1 |
T |
A |
16: 16,948,630 (GRCm39) |
D136V |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,506,514 (GRCm39) |
S612T |
probably damaging |
Het |
| Snf8 |
T |
C |
11: 95,930,126 (GRCm39) |
F43L |
probably benign |
Het |
| Snta1 |
A |
T |
2: 154,245,809 (GRCm39) |
M104K |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,704,746 (GRCm39) |
M61K |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,401,588 (GRCm39) |
H246R |
possibly damaging |
Het |
| Spats2 |
T |
A |
15: 99,097,128 (GRCm39) |
D293E |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,050,174 (GRCm39) |
D1738G |
probably damaging |
Het |
| Sqstm1 |
A |
T |
11: 50,098,684 (GRCm39) |
Y89N |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,050,957 (GRCm39) |
N5K |
probably benign |
Het |
| Syne4 |
A |
G |
7: 30,017,418 (GRCm39) |
H294R |
probably damaging |
Het |
| Tbc1d7 |
A |
C |
13: 43,322,310 (GRCm39) |
F45V |
probably damaging |
Het |
| Tekt3 |
T |
A |
11: 62,974,684 (GRCm39) |
N334K |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,620 (GRCm39) |
H266R |
possibly damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,851,377 (GRCm39) |
S896P |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,526,046 (GRCm39) |
V66A |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,016,403 (GRCm39) |
L1189P |
probably damaging |
Het |
| Usp34 |
T |
G |
11: 23,320,302 (GRCm39) |
V911G |
|
Het |
| Wdr53 |
C |
T |
16: 32,075,413 (GRCm39) |
A206V |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,920,981 (GRCm39) |
E1364G |
probably benign |
Het |
| Ywhag |
T |
C |
5: 135,940,217 (GRCm39) |
M126V |
probably damaging |
Het |
| Zfp383 |
C |
T |
7: 29,614,717 (GRCm39) |
P324L |
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 |
|
|
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'- GCAATTCATTCATGAGGGTAGTG -3'
(R):5'- ATTCTCACGGCTGGAGGATG -3'
Sequencing Primer
(F):5'- ATTCATTCATGAGGGTAGTGGAGAG -3'
(R):5'- CGTTTCCTGACTCGAAAATGGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation