Incidental Mutation 'R6736:Astn1'
| ID |
528377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
044854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6736 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 158338718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046110
|
| SMART Domains |
Protein: ENSMUSP00000039711
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 |
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 null
Transcript: ENSMUST00000170718
|
| SMART Domains |
Protein: ENSMUSP00000127428
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000192619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192868
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193042
|
| SMART Domains |
Protein: ENSMUSP00000142322
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 |
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: ENSMUST00000194369
|
| SMART Domains |
Protein: ENSMUSP00000142017
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 |
|
Blast:MACPF
|
803 |
828 |
2e-7 |
BLAST |
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,211,100 (GRCm39) |
I83T |
probably benign |
Het |
| Aadacl4 |
T |
G |
4: 144,349,909 (GRCm39) |
S389A |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,415,058 (GRCm39) |
S4042C |
probably damaging |
Het |
| Acaca |
G |
A |
11: 84,129,664 (GRCm39) |
V340I |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,746,198 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
C |
11: 54,215,992 (GRCm39) |
E124A |
probably damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,484 (GRCm39) |
H898Q |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,575,329 (GRCm39) |
S603P |
probably damaging |
Het |
| Apobec1 |
A |
T |
6: 122,558,634 (GRCm39) |
M31K |
probably null |
Het |
| Atp8a1 |
G |
T |
5: 67,824,960 (GRCm39) |
D790E |
probably damaging |
Het |
| Bahd1 |
T |
G |
2: 118,746,456 (GRCm39) |
M25R |
possibly damaging |
Het |
| BC034090 |
A |
T |
1: 155,117,676 (GRCm39) |
N147K |
possibly damaging |
Het |
| Bfsp2 |
G |
T |
9: 103,357,403 (GRCm39) |
A8E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,772 (GRCm39) |
I85N |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,845,278 (GRCm39) |
Y99* |
probably null |
Het |
| Ccdc24 |
T |
A |
4: 117,727,732 (GRCm39) |
N145I |
possibly damaging |
Het |
| Cdhr5 |
G |
T |
7: 140,852,444 (GRCm39) |
Q141K |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,199,887 (GRCm39) |
V1998A |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,052,626 (GRCm39) |
Y2166F |
probably damaging |
Het |
| Cul4a |
T |
G |
8: 13,186,219 (GRCm39) |
S474A |
probably benign |
Het |
| Cutal |
A |
G |
2: 34,778,149 (GRCm39) |
T112A |
probably benign |
Het |
| Dcaf6 |
A |
C |
1: 165,227,354 (GRCm39) |
S258A |
possibly damaging |
Het |
| Dek |
C |
T |
13: 47,252,866 (GRCm39) |
V180M |
probably damaging |
Het |
| Dspp |
C |
A |
5: 104,326,041 (GRCm39) |
D801E |
unknown |
Het |
| Egflam |
T |
C |
15: 7,249,206 (GRCm39) |
T871A |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,971,274 (GRCm39) |
S781T |
possibly damaging |
Het |
| Erich6 |
A |
T |
3: 58,532,475 (GRCm39) |
H377Q |
probably damaging |
Het |
| Exo5 |
C |
A |
4: 120,778,953 (GRCm39) |
G304V |
probably damaging |
Het |
| Eya2 |
C |
A |
2: 165,557,957 (GRCm39) |
S184R |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,064,522 (GRCm39) |
|
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,084,496 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,432,995 (GRCm39) |
D318G |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,246 (GRCm39) |
|
probably benign |
Het |
| Gm11937 |
A |
G |
11: 99,500,900 (GRCm39) |
V39A |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,176,044 (GRCm39) |
M60T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 60,879,064 (GRCm39) |
R16L |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,981 (GRCm39) |
L221P |
probably damaging |
Het |
| Hddc3 |
G |
A |
7: 79,992,944 (GRCm39) |
R20Q |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,415,788 (GRCm39) |
Y530H |
possibly damaging |
Het |
| Igf2bp1 |
A |
T |
11: 95,863,948 (GRCm39) |
H247Q |
probably benign |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,912 (GRCm39) |
D103V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,226,668 (GRCm39) |
M1359L |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,038,293 (GRCm39) |
L1013S |
probably damaging |
Het |
| Kctd21 |
C |
T |
7: 96,997,291 (GRCm39) |
R255W |
probably damaging |
Het |
| Krt18 |
T |
A |
15: 101,939,204 (GRCm39) |
Y263N |
probably benign |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Larp1 |
G |
A |
11: 57,933,473 (GRCm39) |
|
probably null |
Het |
| Lmnb1 |
A |
G |
18: 56,861,541 (GRCm39) |
N144S |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,278,555 (GRCm39) |
T3933S |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,679,008 (GRCm39) |
N363S |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,017,750 (GRCm39) |
|
probably null |
Het |
| Mafa |
C |
A |
15: 75,619,629 (GRCm39) |
G48V |
unknown |
Het |
| Mboat4 |
T |
C |
8: 34,591,675 (GRCm39) |
S371P |
possibly damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,677 (GRCm39) |
M237L |
probably benign |
Het |
| Mfsd2a |
T |
C |
4: 122,845,054 (GRCm39) |
D219G |
probably benign |
Het |
| Msl2 |
A |
G |
9: 100,978,201 (GRCm39) |
N192D |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,429,003 (GRCm39) |
R2358M |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,636,165 (GRCm39) |
T185A |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,822,352 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,350,298 (GRCm39) |
T2281A |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,223,586 (GRCm39) |
V486F |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,800 (GRCm39) |
S229P |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,834 (GRCm39) |
C240F |
probably damaging |
Het |
| Or1e1c |
G |
T |
11: 73,266,402 (GRCm39) |
V276F |
probably benign |
Het |
| Or4q3 |
A |
T |
14: 50,582,905 (GRCm39) |
N300K |
probably damaging |
Het |
| Or5an10 |
G |
A |
19: 12,275,936 (GRCm39) |
Q187* |
probably null |
Het |
| Or5d20-ps1 |
C |
A |
2: 87,931,947 (GRCm39) |
C128F |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,866 (GRCm39) |
I19N |
probably damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,089 (GRCm39) |
S274P |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,121,899 (GRCm39) |
S283T |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,479,056 (GRCm39) |
|
probably null |
Het |
| Piwil4 |
A |
G |
9: 14,627,119 (GRCm39) |
F424L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn7 |
C |
T |
1: 135,066,974 (GRCm39) |
P277L |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,180,436 (GRCm39) |
K27E |
probably damaging |
Het |
| Rp1l1 |
G |
T |
14: 64,267,173 (GRCm39) |
A920S |
possibly damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,113,222 (GRCm39) |
H433Q |
probably benign |
Het |
| Safb |
C |
A |
17: 56,913,023 (GRCm39) |
P913Q |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,854 (GRCm39) |
V477M |
probably damaging |
Het |
| Serpina16 |
T |
A |
12: 103,635,191 (GRCm39) |
T408S |
possibly damaging |
Het |
| Six5 |
G |
A |
7: 18,828,916 (GRCm39) |
V119M |
possibly damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,452 (GRCm39) |
P11S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,756,389 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,515,274 (GRCm39) |
I420F |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,659,954 (GRCm39) |
D982G |
possibly damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,761 (GRCm39) |
F891I |
probably damaging |
Het |
| Sugp1 |
A |
G |
8: 70,511,953 (GRCm39) |
E183G |
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,119 (GRCm39) |
|
probably null |
Het |
| Tapbp |
T |
C |
17: 34,138,931 (GRCm39) |
S33P |
possibly damaging |
Het |
| Ubap2 |
CT |
CTTGCCCCGGT |
4: 41,227,224 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
GCCCGCTTGCCCCGCT |
GCCCGCTTGCCCCGCTTGCCCCGCT |
4: 41,227,210 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,450,389 (GRCm39) |
T355A |
probably benign |
Het |
| Usp16 |
T |
G |
16: 87,267,285 (GRCm39) |
V225G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,497,047 (GRCm39) |
V2454A |
probably benign |
Het |
| Vmn1r191 |
G |
T |
13: 22,363,720 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,697,282 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp143 |
T |
C |
7: 109,691,021 (GRCm39) |
M524T |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,140 (GRCm39) |
C342R |
probably damaging |
Het |
| Zfp777 |
T |
G |
6: 48,001,790 (GRCm39) |
K811Q |
probably damaging |
Het |
| Zfp870 |
T |
A |
17: 33,102,570 (GRCm39) |
H254L |
probably benign |
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 |
|
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'- ACTTGTGCCCCTGTATTGTG -3'
(R):5'- CCTACCCAGACTTCTGTCAGAC -3'
Sequencing Primer
(F):5'- TAGGGAGCCGCTTCATCCTG -3'
(R):5'- CAGACTTCTGTCAGACTATTGCATG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation