Incidental Mutation 'IGL02119:Astn1'
ID 280531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Astn1
Ensembl Gene ENSMUSG00000026587
Gene Name astrotactin 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02119
Quality Score
Status
Chromosome 1
Chromosomal Location 158189843-158519351 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 158338724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141518 (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

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 noncoding transcript
Transcript: ENSMUST00000192619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192868
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: 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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,158,344 (GRCm39) probably null Het
Acsbg2 T C 17: 57,175,459 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,598,911 (GRCm39) V495A probably benign Het
Bora A G 14: 99,290,974 (GRCm39) D94G probably damaging Het
Bpifb9b G T 2: 154,155,544 (GRCm39) V348L possibly damaging Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cyp2d11 A C 15: 82,274,265 (GRCm39) I372S probably damaging Het
Dennd2c T A 3: 103,044,559 (GRCm39) V380D probably damaging Het
Fat4 C T 3: 39,037,088 (GRCm39) A3580V probably benign Het
Filip1 A G 9: 79,725,548 (GRCm39) S1024P probably benign Het
Flnc G A 6: 29,447,511 (GRCm39) E1105K probably damaging Het
Gbp4 T A 5: 105,268,908 (GRCm39) E415V probably benign Het
Gdap1l1 T A 2: 163,295,588 (GRCm39) F224Y probably damaging Het
Gm11146 A T 16: 77,385,498 (GRCm39) probably null Het
Gsn G T 2: 35,192,507 (GRCm39) R485L probably damaging Het
Havcr1 A G 11: 46,666,320 (GRCm39) Y261C probably damaging Het
Maneal A T 4: 124,752,960 (GRCm39) I229N probably benign Het
Med24 A T 11: 98,619,661 (GRCm39) M27K probably benign Het
Nipsnap2 T A 5: 129,825,056 (GRCm39) probably benign Het
Noa1 T A 5: 77,455,426 (GRCm39) Q430L probably benign Het
Or1l4 C A 2: 37,091,281 (GRCm39) S9R possibly damaging Het
Or5d47 T A 2: 87,804,754 (GRCm39) N85I probably benign Het
Or7g12 T C 9: 18,899,908 (GRCm39) V208A probably benign Het
Or8h9 T C 2: 86,789,527 (GRCm39) I92V probably benign Het
Pde3a T A 6: 141,405,529 (GRCm39) S460R probably damaging Het
Pdzd8 T C 19: 59,288,922 (GRCm39) Q826R possibly damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Poldip2 T A 11: 78,408,734 (GRCm39) F200I probably damaging Het
Prodh2 T C 7: 30,205,929 (GRCm39) V208A probably damaging Het
Ranbp10 T C 8: 106,553,635 (GRCm39) D89G probably damaging Het
Rbm33 T A 5: 28,544,015 (GRCm39) S90R probably damaging Het
Slc44a4 A C 17: 35,147,637 (GRCm39) D441A probably damaging Het
Slc4a10 A T 2: 62,059,014 (GRCm39) I174F probably damaging Het
Smim17 T C 7: 6,430,160 (GRCm39) probably benign Het
Tln1 T C 4: 43,546,760 (GRCm39) E872G probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Top2b T C 14: 16,406,733 (GRCm38) L625S probably damaging Het
Vmn2r59 A G 7: 41,695,593 (GRCm39) V273A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Whrn T G 4: 63,353,724 (GRCm39) K348Q probably damaging Het
Zc3h14 T C 12: 98,730,154 (GRCm39) V399A 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
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
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 2015-04-16