Incidental Mutation 'R1701:Astn1'
ID 189698
Institutional Source Beutler Lab
Gene Symbol Astn1
Ensembl Gene ENSMUSG00000026587
Gene Name astrotactin 1
Synonyms
MMRRC Submission 039734-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R1701 (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 T at 158331877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 324 (T324S)
Ref Sequence ENSEMBL: ENSMUSP00000141518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046110] [ENSMUST00000170718] [ENSMUST00000193042] [ENSMUST00000194369] [ENSMUST00000195311]
AlphaFold Q61137
Predicted Effect possibly damaging
Transcript: ENSMUST00000046110
AA Change: T324S

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: T324S

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 noncoding transcript
Transcript: ENSMUST00000093595
Predicted Effect possibly damaging
Transcript: ENSMUST00000170718
AA Change: T324S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: T324S

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: ENSMUST00000192868
Predicted Effect possibly damaging
Transcript: ENSMUST00000193042
AA Change: T324S

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: T324S

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 possibly damaging
Transcript: ENSMUST00000194369
AA Change: T324S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: T324S

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 possibly damaging
Transcript: ENSMUST00000195311
AA Change: T324S

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: T324S

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,142 (GRCm39) L53P probably damaging Het
Acadsb T A 7: 131,026,213 (GRCm39) F19I probably benign Het
Aldh3a2 C T 11: 61,147,598 (GRCm39) G303S probably damaging Het
Anks1b T C 10: 89,885,816 (GRCm39) Y171H probably damaging Het
Anxa7 A T 14: 20,510,229 (GRCm39) I385N probably damaging Het
Ccdc88a T C 11: 29,427,427 (GRCm39) V235A possibly damaging Het
Crhr2 T C 6: 55,076,255 (GRCm39) K258R probably damaging Het
Ctnnd1 T C 2: 84,439,335 (GRCm39) E786G probably damaging Het
Ctnnd2 G A 15: 30,922,127 (GRCm39) D918N probably damaging Het
Dnah9 A G 11: 65,802,750 (GRCm39) S200P probably damaging Het
Dot1l T C 10: 80,626,576 (GRCm39) S1266P possibly damaging Het
Efemp1 A G 11: 28,871,750 (GRCm39) T422A possibly damaging Het
Fam135b T C 15: 71,331,578 (GRCm39) H1137R probably damaging Het
Flot2 C T 11: 77,940,373 (GRCm39) S40L possibly damaging Het
Fras1 G A 5: 96,748,643 (GRCm39) S706N probably benign Het
Gbf1 T C 19: 46,250,114 (GRCm39) L357P probably damaging Het
Gpatch2l A G 12: 86,335,726 (GRCm39) S476G probably benign Het
Hbb-bh2 T C 7: 103,489,450 (GRCm39) T34A probably benign Het
Ints8 A G 4: 11,231,656 (GRCm39) L443P probably damaging Het
Intu T A 3: 40,618,694 (GRCm39) D233E probably damaging Het
Itprid2 A G 2: 79,466,394 (GRCm39) K75E probably damaging Het
Kctd1 T A 18: 15,102,617 (GRCm39) I259L possibly damaging Het
Lama5 A G 2: 179,863,162 (GRCm39) C108R probably damaging Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrig2 T C 3: 104,401,993 (GRCm39) I111V probably benign Het
Mtcl2 T C 2: 156,872,539 (GRCm39) N936S probably damaging Het
Myh8 G T 11: 67,170,964 (GRCm39) C125F probably damaging Het
Or2d3c C A 7: 106,526,129 (GRCm39) C179F probably damaging Het
Or2h2 C T 17: 37,396,623 (GRCm39) V145M probably benign Het
Or51a10 T C 7: 103,699,402 (GRCm39) E53G possibly damaging Het
Or5ac21 T C 16: 59,123,651 (GRCm39) I46T probably benign Het
Or5p76 T G 7: 108,122,731 (GRCm39) Q142P probably benign Het
Or5w16 T A 2: 87,576,894 (GRCm39) M118K probably damaging Het
Or6c202 T C 10: 128,995,974 (GRCm39) Q293R probably damaging Het
Or8g4 A T 9: 39,662,365 (GRCm39) I228F probably damaging Het
Pate8 A G 9: 36,493,114 (GRCm39) probably benign Het
Phc2 C T 4: 128,645,400 (GRCm39) P836S probably damaging Het
Pla2g7 T C 17: 43,911,415 (GRCm39) F189S probably damaging Het
Ptprk A G 10: 28,342,054 (GRCm39) D487G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Robo4 G T 9: 37,314,739 (GRCm39) V198L probably benign Het
Selenbp1 C A 3: 94,844,701 (GRCm39) H119Q probably damaging Het
Slc25a13 T C 6: 6,152,525 (GRCm39) probably null Het
Slc35f5 A G 1: 125,498,330 (GRCm39) E176G possibly damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Tenm4 G A 7: 96,552,096 (GRCm39) V2512M probably damaging Het
Tmc8 A G 11: 117,682,188 (GRCm39) probably null Het
Trim30d C T 7: 104,133,389 (GRCm39) W21* probably null Het
Ube3c G A 5: 29,806,200 (GRCm39) V281I probably benign Het
Usp17ld T C 7: 102,899,783 (GRCm39) K383R probably benign Het
Vmn1r172 A T 7: 23,359,529 (GRCm39) Y138F probably damaging Het
Vmn1r180 T C 7: 23,652,395 (GRCm39) V186A possibly damaging Het
Vmn2r25 T A 6: 123,828,754 (GRCm39) probably null Het
Vmn2r61 T C 7: 41,949,935 (GRCm39) F785S probably damaging Het
Zfp141 T A 7: 42,125,470 (GRCm39) Y334F probably benign Het
Zfp609 T C 9: 65,638,282 (GRCm39) I317V probably benign Het
Zfp879 A G 11: 50,724,060 (GRCm39) I259T possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGGAATGTCTTCCTTTCCACCAGC -3'
(R):5'- TGAGTAGCATCTATCTGGCCTCCTG -3'

Sequencing Primer
(F):5'- TGGGACCTATCTACTCAGCTCAAG -3'
(R):5'- CTCCTGAAGGTTGTACCAGAC -3'
Posted On 2014-05-14