Incidental Mutation 'IGL00955:Spin1'
ID 28883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spin1
Ensembl Gene ENSMUSG00000021395
Gene Name spindlin 1
Synonyms Spin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00955
Quality Score
Status
Chromosome 13
Chromosomal Location 51254916-51306582 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 51298577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095797]
AlphaFold Q61142
Predicted Effect probably null
Transcript: ENSMUST00000095797
SMART Domains Protein: ENSMUSP00000093473
Gene: ENSMUSG00000021395

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223152
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,548,691 (GRCm39) Q167L probably benign Het
Ces3a T A 8: 105,777,202 (GRCm39) V175E probably damaging Het
Cherp C T 8: 73,224,038 (GRCm39) E140K probably damaging Het
Clpx A T 9: 65,231,552 (GRCm39) T546S probably damaging Het
Csgalnact2 A G 6: 118,106,225 (GRCm39) L31P probably damaging Het
Cxcr1 A T 1: 74,231,379 (GRCm39) F214L probably benign Het
Cyp2c67 T A 19: 39,631,829 (GRCm39) T123S possibly damaging Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dzank1 G A 2: 144,332,094 (GRCm39) T414I probably benign Het
Erich3 A G 3: 154,454,156 (GRCm39) I641V probably benign Het
Gtf2e1 A T 16: 37,356,282 (GRCm39) D83E possibly damaging Het
Hars2 T C 18: 36,922,410 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kcnh2 T C 5: 24,529,964 (GRCm39) D372G probably damaging Het
Kcnk2 A T 1: 188,975,211 (GRCm39) I264N probably damaging Het
Kctd4 A G 14: 76,200,668 (GRCm39) D213G probably damaging Het
Lhx9 T C 1: 138,756,418 (GRCm39) T323A possibly damaging Het
Lilra6 C A 7: 3,914,403 (GRCm39) probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Mov10l1 A G 15: 88,879,192 (GRCm39) Y184C probably damaging Het
Mrpl24 T A 3: 87,829,526 (GRCm39) L91* probably null Het
Mup11 C T 4: 60,615,549 (GRCm39) R175H probably benign Het
Nbea T C 3: 55,912,893 (GRCm39) K965E possibly damaging Het
Or52ab7 C A 7: 102,978,528 (GRCm39) H278Q probably damaging Het
Papss1 G A 3: 131,305,710 (GRCm39) E252K probably benign Het
Robo2 A T 16: 73,812,860 (GRCm39) L278Q probably damaging Het
Sned1 A T 1: 93,202,125 (GRCm39) I638F probably damaging Het
Taar9 T C 10: 23,985,429 (GRCm39) T2A probably benign Het
Tbc1d8b T C X: 138,626,629 (GRCm39) probably null Het
Other mutations in Spin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02825:Spin1 APN 13 51,277,332 (GRCm39) splice site probably benign
IGL03366:Spin1 APN 13 51,281,973 (GRCm39) missense probably benign 0.03
R0050:Spin1 UTSW 13 51,304,454 (GRCm39) utr 3 prime probably benign
R0139:Spin1 UTSW 13 51,303,048 (GRCm39) missense probably benign 0.01
R0745:Spin1 UTSW 13 51,293,551 (GRCm39) missense probably damaging 0.96
R1394:Spin1 UTSW 13 51,298,517 (GRCm39) missense probably damaging 1.00
R1674:Spin1 UTSW 13 51,303,135 (GRCm39) missense probably damaging 1.00
R1980:Spin1 UTSW 13 51,298,506 (GRCm39) missense probably damaging 1.00
R2070:Spin1 UTSW 13 51,298,573 (GRCm39) critical splice donor site probably null
R5326:Spin1 UTSW 13 51,293,563 (GRCm39) missense probably damaging 1.00
R5741:Spin1 UTSW 13 51,303,171 (GRCm39) missense possibly damaging 0.81
R6030:Spin1 UTSW 13 51,293,552 (GRCm39) nonsense probably null
R6030:Spin1 UTSW 13 51,293,552 (GRCm39) nonsense probably null
R6182:Spin1 UTSW 13 51,298,374 (GRCm39) missense probably benign
R7423:Spin1 UTSW 13 51,277,326 (GRCm39) critical splice donor site probably null
R7555:Spin1 UTSW 13 51,303,085 (GRCm39) missense probably benign 0.02
R8912:Spin1 UTSW 13 51,298,433 (GRCm39) missense probably damaging 1.00
R9014:Spin1 UTSW 13 51,282,010 (GRCm39) critical splice donor site probably null
R9735:Spin1 UTSW 13 51,293,521 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17