Incidental Mutation 'R2211:Astn1'
| ID |
239349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
040213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158484876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 4
(R4G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000192821]
[ENSMUST00000193042]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046110
AA Change: R980G
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: R980G
| 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: ENSMUST00000192821
AA Change: R4G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141260
Gene: ENSMUSG00000026587
AA Change: R4G
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
46 |
158 |
2.8e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193042
AA Change: R988G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: R988G
| 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: ENSMUST00000194217
AA Change: R53G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195311
AA Change: R980G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: R980G
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
G |
8: 25,118,171 (GRCm39) |
S34P |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,612,288 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,345,781 (GRCm39) |
I277F |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,467,993 (GRCm39) |
S1736T |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,451 (GRCm39) |
M242K |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,437,680 (GRCm39) |
S268P |
possibly damaging |
Het |
| AU041133 |
G |
A |
10: 81,986,755 (GRCm39) |
C135Y |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,268,288 (GRCm39) |
V53A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,301,783 (GRCm39) |
D428G |
possibly damaging |
Het |
| Cebpa |
T |
C |
7: 34,819,891 (GRCm39) |
S350P |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,214,279 (GRCm39) |
M152V |
probably null |
Het |
| Cpa4 |
A |
G |
6: 30,583,649 (GRCm39) |
N255S |
possibly damaging |
Het |
| Ddx51 |
T |
A |
5: 110,803,634 (GRCm39) |
D343E |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,518,932 (GRCm39) |
I2942V |
probably benign |
Het |
| Dnajc1 |
G |
T |
2: 18,397,286 (GRCm39) |
A9E |
probably damaging |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,680,453 (GRCm39) |
D526G |
possibly damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Etaa1 |
G |
A |
11: 17,902,686 (GRCm39) |
Q84* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam149a |
G |
A |
8: 45,794,046 (GRCm39) |
T674I |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,940 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 38,945,676 (GRCm39) |
N1523S |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,758,361 (GRCm39) |
T529A |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,526,870 (GRCm39) |
A447V |
probably damaging |
Het |
| Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
| Hic1 |
T |
A |
11: 75,060,210 (GRCm39) |
R46W |
possibly damaging |
Het |
| Id4 |
T |
A |
13: 48,415,278 (GRCm39) |
L102Q |
probably damaging |
Het |
| Il3ra |
T |
C |
14: 14,355,029 (GRCm38) |
C271R |
probably benign |
Het |
| Ints4 |
T |
C |
7: 97,158,957 (GRCm39) |
I443T |
possibly damaging |
Het |
| Lmln |
A |
G |
16: 32,930,148 (GRCm39) |
E535G |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,623 (GRCm39) |
H345R |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,803,990 (GRCm39) |
I834T |
possibly damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,974,669 (GRCm39) |
V341L |
probably benign |
Het |
| Nbr1 |
T |
C |
11: 101,458,090 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
C |
11: 79,334,890 (GRCm39) |
M914T |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,366,952 (GRCm39) |
H861L |
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,470,089 (GRCm39) |
F341L |
probably damaging |
Het |
| Ogfod2 |
C |
A |
5: 124,250,843 (GRCm39) |
|
probably null |
Het |
| Oit3 |
T |
C |
10: 59,263,892 (GRCm39) |
D414G |
probably damaging |
Het |
| Or6c5c |
A |
T |
10: 129,298,809 (GRCm39) |
K88M |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
| Or8k32 |
T |
C |
2: 86,368,857 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,733 (GRCm39) |
M81L |
probably benign |
Het |
| Pals1 |
A |
T |
12: 78,844,022 (GRCm39) |
K75N |
possibly damaging |
Het |
| Pcbp4 |
C |
A |
9: 106,337,933 (GRCm39) |
H74Q |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,356,214 (GRCm39) |
D241E |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,554,015 (GRCm39) |
D102G |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,471,587 (GRCm39) |
E4K |
possibly damaging |
Het |
| Ppargc1a |
A |
C |
5: 51,631,601 (GRCm39) |
S343A |
possibly damaging |
Het |
| Ppwd1 |
G |
A |
13: 104,343,650 (GRCm39) |
S585L |
probably benign |
Het |
| Rarg |
T |
C |
15: 102,147,959 (GRCm39) |
N284S |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Rp1 |
A |
C |
1: 4,418,362 (GRCm39) |
S917A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGAGGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsph3b |
T |
C |
17: 7,209,139 (GRCm39) |
S189G |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,511,589 (GRCm39) |
L604Q |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,431,741 (GRCm39) |
I641F |
probably benign |
Het |
| Slc35f5 |
A |
T |
1: 125,507,001 (GRCm39) |
I309F |
possibly damaging |
Het |
| Smarca4 |
A |
G |
9: 21,597,325 (GRCm39) |
E1360G |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,183,753 (GRCm39) |
S432P |
probably benign |
Het |
| Spsb3 |
T |
C |
17: 25,109,911 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,067,034 (GRCm39) |
D1960G |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,689,645 (GRCm39) |
V345A |
possibly damaging |
Het |
| Tiam2 |
C |
A |
17: 3,465,193 (GRCm39) |
C307* |
probably null |
Het |
| Trim43b |
T |
A |
9: 88,967,302 (GRCm39) |
T444S |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,388,403 (GRCm39) |
I11T |
probably benign |
Het |
| Ylpm1 |
A |
T |
12: 85,091,152 (GRCm39) |
R1073* |
probably null |
Het |
| Zfp524 |
T |
C |
7: 5,020,918 (GRCm39) |
S149P |
probably damaging |
Het |
| Zfp777 |
T |
C |
6: 48,020,819 (GRCm39) |
I312V |
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 |
|
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 |
|
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'- TGTCAGACTCTGGCACCAAG -3'
(R):5'- TTGTCCTCAACTTCAATAGTGACAC -3'
Sequencing Primer
(F):5'- GCGAATGGCAGCTGGAGTC -3'
(R):5'- CTTCAATAGTGACACCTGGATGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation