Incidental Mutation 'IGL00096:Spin2f'
ID 306540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spin2f
Ensembl Gene ENSMUSG00000095754
Gene Name spindlin family, member 2F
Synonyms Gm2790
Accession Numbers
Essential gene? Not available question?
Stock # IGL00096
Quality Score
Status
Chromosome X
Chromosomal Location 30905572-30906317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30905704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 51 (I51N)
Ref Sequence ENSEMBL: ENSMUSP00000137473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177990]
AlphaFold J3QPU0
Predicted Effect probably damaging
Transcript: ENSMUST00000177990
AA Change: I51N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137473
Gene: ENSMUSG00000095754
AA Change: I51N

DomainStartEndE-ValueType
Pfam:Spin-Ssty 47 96 1.2e-25 PFAM
Pfam:Spin-Ssty 126 175 5.8e-24 PFAM
Pfam:Spin-Ssty 206 251 4.2e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,027,477 (GRCm39) Y42H probably damaging Het
Alpk1 A T 3: 127,474,692 (GRCm39) F437Y probably damaging Het
Bdp1 T C 13: 100,197,373 (GRCm39) D1004G possibly damaging Het
C9 A C 15: 6,516,137 (GRCm39) Q313H probably benign Het
Carmil1 T A 13: 24,295,821 (GRCm39) N398Y possibly damaging Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Inpp5k T A 11: 75,537,646 (GRCm39) M352K possibly damaging Het
Lef1 C T 3: 130,907,499 (GRCm39) probably benign Het
Naip5 C A 13: 100,382,683 (GRCm39) E9* probably null Het
Or6y1 A T 1: 174,276,233 (GRCm39) T15S probably benign Het
Peli1 G A 11: 21,092,619 (GRCm39) V89I probably damaging Het
Plb1 A G 5: 32,503,080 (GRCm39) Q1180R probably benign Het
Skic2 T A 17: 35,058,524 (GRCm39) I1198F probably damaging Het
Sorcs3 T A 19: 48,672,097 (GRCm39) probably null Het
Sptbn4 T C 7: 27,068,859 (GRCm39) K1800E probably damaging Het
Vmn2r67 A T 7: 84,801,138 (GRCm39) V266E probably damaging Het
Other mutations in Spin2f
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7820:Spin2f UTSW X 30,905,635 (GRCm39) missense probably benign
Posted On 2015-04-16