Incidental Mutation 'R0050:Astn1'
ID 16207
Institutional Source Beutler Lab
Gene Symbol Astn1
Ensembl Gene ENSMUSG00000026587
Gene Name astrotactin 1
Synonyms
MMRRC Submission 038344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0050 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 158189843-158519351 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 158407294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046110] [ENSMUST00000170718] [ENSMUST00000193042] [ENSMUST00000193599] [ENSMUST00000194369] [ENSMUST00000195311]
AlphaFold Q61137
Predicted Effect probably benign
Transcript: ENSMUST00000046110
SMART Domains Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587

DomainStartEndE-ValueType
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: ENSMUST00000170718
SMART Domains Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000141498
Gene: ENSMUSG00000026587

DomainStartEndE-ValueType
EGF 101 142 1.1e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194369
SMART Domains Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 88.6%
  • 3x: 85.4%
  • 10x: 76.7%
  • 20x: 62.7%
Validation Efficiency 90% (86/96)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,069,910 (GRCm39) probably benign Het
Abca9 C T 11: 110,036,417 (GRCm39) C564Y probably damaging Het
Abhd14a A T 9: 106,318,082 (GRCm39) probably benign Het
Acnat2 G A 4: 49,380,586 (GRCm39) T264I probably benign Het
Adamts2 T C 11: 50,666,222 (GRCm39) V406A probably damaging Het
Adcy5 A G 16: 35,124,673 (GRCm39) probably benign Het
Akr1c13 T C 13: 4,244,669 (GRCm39) probably benign Het
Ankar T A 1: 72,695,323 (GRCm39) E1093D probably damaging Het
Arhgef38 C A 3: 132,837,957 (GRCm39) D75Y probably damaging Het
Asns T C 6: 7,676,019 (GRCm39) I484V probably benign Het
Atg4b T A 1: 93,715,440 (GRCm39) probably benign Het
Cadm2 A G 16: 66,750,154 (GRCm39) probably benign Het
Ces2c T A 8: 105,574,831 (GRCm39) M96K probably benign Het
Cpd T A 11: 76,683,685 (GRCm39) T1025S possibly damaging Het
Daw1 T C 1: 83,158,086 (GRCm39) V45A probably benign Het
Dmrt3 C A 19: 25,599,953 (GRCm39) P266H probably damaging Het
Dnah10 A G 5: 124,907,808 (GRCm39) T4416A probably benign Het
Dock9 A G 14: 121,844,637 (GRCm39) V1124A probably benign Het
Ermp1 C A 19: 29,606,184 (GRCm39) A190S probably damaging Het
Gm10267 T A 18: 44,289,520 (GRCm39) probably benign Het
Golga2 T A 2: 32,182,139 (GRCm39) V29D probably damaging Het
Gprc6a T A 10: 51,491,485 (GRCm39) M755L probably damaging Het
H1f8 G T 6: 115,924,729 (GRCm39) K78N probably damaging Het
Lama1 A T 17: 68,089,051 (GRCm39) D1574V possibly damaging Het
Lama3 T A 18: 12,537,160 (GRCm39) H268Q probably damaging Het
Lmntd1 T C 6: 145,363,202 (GRCm39) D107G probably damaging Het
Lrriq1 A G 10: 102,904,792 (GRCm39) V1614A probably damaging Het
Mmp12 A G 9: 7,350,152 (GRCm39) probably benign Het
Mre11a A G 9: 14,742,269 (GRCm39) probably benign Het
Mtrf1l T C 10: 5,765,553 (GRCm39) silent Het
Oaz2 A G 9: 65,595,084 (GRCm39) E61G probably damaging Het
Parp3 A T 9: 106,348,600 (GRCm39) D473E possibly damaging Het
Pear1 G T 3: 87,663,294 (GRCm39) Y441* probably null Het
Pkhd1l1 A T 15: 44,437,203 (GRCm39) T3493S possibly damaging Het
Ppp3cb A G 14: 20,581,820 (GRCm39) V65A possibly damaging Het
Rheb A T 5: 25,022,832 (GRCm39) probably benign Het
Ros1 G A 10: 51,977,899 (GRCm39) T1449M probably damaging Het
Scn4a C G 11: 106,211,682 (GRCm39) R1445P probably damaging Het
Sema3d T A 5: 12,634,920 (GRCm39) M662K probably benign Het
Skp2 A G 15: 9,125,178 (GRCm39) F134L probably benign Het
Slc6a12 T C 6: 121,337,378 (GRCm39) probably benign Het
Slc8a3 T C 12: 81,362,039 (GRCm39) Y260C probably damaging Het
Spin1 T A 13: 51,304,454 (GRCm39) probably benign Het
Stx2 A G 5: 129,076,572 (GRCm39) probably null Het
Sycp2 A T 2: 178,006,504 (GRCm39) V863D probably damaging Het
Tgfb3 T A 12: 86,116,658 (GRCm39) I127F possibly damaging Het
Tgif1 T G 17: 71,157,879 (GRCm39) K2Q probably damaging Het
Trmt2a A T 16: 18,068,707 (GRCm39) E234D probably damaging Het
Trps1 A T 15: 50,628,921 (GRCm39) S696T probably benign Het
Ucp1 A G 8: 84,020,857 (GRCm39) E191G probably damaging Het
Usp48 C A 4: 137,341,114 (GRCm39) D371E probably damaging Het
Usp54 A T 14: 20,623,823 (GRCm39) probably benign Het
Other mutations in Astn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2013-01-08