Incidental Mutation 'IGL03366:Spin1'
ID420094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spin1
Ensembl Gene ENSMUSG00000021395
Gene Namespindlin 1
SynonymsSpin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03366
Quality Score
Status
Chromosome13
Chromosomal Location51100880-51152546 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51127937 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 22 (V22A)
Ref Sequence ENSEMBL: ENSMUSP00000093473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095797]
Predicted Effect probably benign
Transcript: ENSMUST00000095797
AA Change: V22A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000093473
Gene: ENSMUSG00000021395
AA Change: V22A

DomainStartEndE-ValueType
Pfam:Spin-Ssty 54 103 7.3e-30 PFAM
Pfam:Spin-Ssty 133 182 1.2e-26 PFAM
Pfam:Spin-Ssty 214 259 1.2e-24 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele display complete postnatal lethality. Although mutant female mice exhibit normal follicular development and oocyte growth, fully grown oocytes are defective in resuming meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 T A 7: 141,629,273 S793T probably benign Het
Btnl6 T C 17: 34,508,179 D459G probably damaging Het
Cacna1g C A 11: 94,457,151 D704Y probably damaging Het
Cry2 A G 2: 92,413,715 I371T probably damaging Het
Dock3 A T 9: 107,005,433 F384I probably benign Het
Dpp4 T C 2: 62,356,957 probably null Het
Hecw1 G T 13: 14,377,797 D72E probably damaging Het
Htt T A 5: 34,907,580 W3046R probably damaging Het
Hydin A T 8: 110,267,363 N10Y unknown Het
Ighv8-8 T A 12: 115,294,140 T94S probably benign Het
Igkv4-58 A G 6: 69,500,554 S20P probably damaging Het
Il4i1 T C 7: 44,837,495 probably benign Het
Kif13a A T 13: 46,764,623 S403T probably benign Het
Klhl40 T C 9: 121,783,380 L616P probably damaging Het
Krt7 T C 15: 101,427,610 L440P possibly damaging Het
Lpin1 A G 12: 16,544,677 L755P probably damaging Het
Magee2 C A X: 104,855,528 E506* probably null Het
Mast3 G A 8: 70,781,563 R143* probably null Het
Med12 T A X: 101,278,089 H459Q probably benign Het
Mmp3 T C 9: 7,450,149 S294P probably benign Het
Muc6 T C 7: 141,648,082 Y714C probably damaging Het
Myh2 T C 11: 67,183,523 L662S probably damaging Het
Notch4 G T 17: 34,572,568 C567F probably damaging Het
Nprl3 A G 11: 32,250,256 I20T probably damaging Het
Olfr1123 A T 2: 87,418,243 D65V possibly damaging Het
Pcdhb19 A G 18: 37,498,612 T487A possibly damaging Het
Phlpp2 A G 8: 109,940,835 E1332G probably benign Het
Pick1 T C 15: 79,241,281 S113P probably damaging Het
Ptpru T C 4: 131,779,867 E1023G probably damaging Het
Rspry1 A C 8: 94,650,334 I382L probably benign Het
Sf3b3 A C 8: 110,839,954 V248G probably damaging Het
Smg5 T A 3: 88,346,452 Y126* probably null Het
Spert A G 14: 75,583,389 S299P probably benign Het
Stab1 C T 14: 31,150,263 R1189Q possibly damaging Het
Sytl5 A G X: 9,963,700 D538G probably damaging Het
Taar7e T A 10: 24,037,915 M101K probably damaging Het
Taf4 A G 2: 179,935,054 V578A probably damaging Het
Tmem266 G T 9: 55,437,233 C383F probably benign Het
Trim34a T C 7: 104,260,933 probably null Het
Vmn2r104 T C 17: 20,029,604 T802A probably damaging Het
Vmn2r32 A C 7: 7,464,030 I833S probably damaging Het
Vmn2r85 T C 10: 130,426,459 D137G probably benign Het
Vps13c C T 9: 67,946,026 S2467L probably benign Het
Other mutations in Spin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Spin1 APN 13 51144541 splice site probably null
IGL02825:Spin1 APN 13 51123296 splice site probably benign
R0050:Spin1 UTSW 13 51150418 utr 3 prime probably benign
R0139:Spin1 UTSW 13 51149012 missense probably benign 0.01
R0745:Spin1 UTSW 13 51139515 missense probably damaging 0.96
R1394:Spin1 UTSW 13 51144481 missense probably damaging 1.00
R1674:Spin1 UTSW 13 51149099 missense probably damaging 1.00
R1980:Spin1 UTSW 13 51144470 missense probably damaging 1.00
R2070:Spin1 UTSW 13 51144537 critical splice donor site probably null
R5326:Spin1 UTSW 13 51139527 missense probably damaging 1.00
R5741:Spin1 UTSW 13 51149135 missense possibly damaging 0.81
R6030:Spin1 UTSW 13 51139516 nonsense probably null
R6030:Spin1 UTSW 13 51139516 nonsense probably null
R6182:Spin1 UTSW 13 51144338 missense probably benign
R7423:Spin1 UTSW 13 51123290 critical splice donor site probably null
R7555:Spin1 UTSW 13 51149049 missense probably benign 0.02
Posted On2016-08-02