Incidental Mutation 'IGL03213:Spmip1'
ID 413370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip1
Ensembl Gene ENSMUSG00000090685
Gene Name sperm microtubule inner protein 1
Synonyms Atp6v1fnb, Gm9047
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL03213
Quality Score
Status
Chromosome 6
Chromosomal Location 29471436-29473428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29471792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 89 (M89I)
Ref Sequence ENSEMBL: ENSMUSP00000127891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004396] [ENSMUST00000149646] [ENSMUST00000171317]
AlphaFold B9EJX3
Predicted Effect probably benign
Transcript: ENSMUST00000004396
SMART Domains Protein: ENSMUSP00000004396
Gene: ENSMUSG00000004285

DomainStartEndE-ValueType
Pfam:ATP-synt_F 8 109 2.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143101
SMART Domains Protein: ENSMUSP00000116986
Gene: ENSMUSG00000004285

DomainStartEndE-ValueType
Pfam:ATP-synt_F 31 90 6.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149646
SMART Domains Protein: ENSMUSP00000145062
Gene: ENSMUSG00000004285

DomainStartEndE-ValueType
Pfam:ATP-synt_F 3 61 7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159482
Predicted Effect probably damaging
Transcript: ENSMUST00000171317
AA Change: M89I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127891
Gene: ENSMUSG00000090685
AA Change: M89I

DomainStartEndE-ValueType
low complexity region 58 83 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,831,971 (GRCm39) D447E probably damaging Het
Aldh8a1 T C 10: 21,260,616 (GRCm39) V175A probably damaging Het
Aoc1l3 A G 6: 48,965,279 (GRCm39) D429G possibly damaging Het
Arap2 T A 5: 62,906,438 (GRCm39) T194S probably benign Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
Arl5b T A 2: 15,074,676 (GRCm39) N52K probably damaging Het
Atg13 G A 2: 91,515,512 (GRCm39) H227Y probably damaging Het
Ccdc178 T C 18: 22,253,748 (GRCm39) T164A possibly damaging Het
Cep192 T C 18: 67,998,708 (GRCm39) V2074A probably damaging Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Chrm3 G A 13: 9,928,220 (GRCm39) T272I probably benign Het
Cln8 A G 8: 14,944,845 (GRCm39) Y53C probably damaging Het
Cwc27 T A 13: 104,932,911 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,892,529 (GRCm39) probably benign Het
Dchs1 G T 7: 105,404,279 (GRCm39) N2754K probably damaging Het
Dclk1 A T 3: 55,387,805 (GRCm39) K84* probably null Het
Ednra T C 8: 78,446,848 (GRCm39) T77A probably benign Het
Epn2 T C 11: 61,410,510 (GRCm39) N553D probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gm10784 T A 13: 50,099,310 (GRCm39) noncoding transcript Het
Gtf2e2 T C 8: 34,242,525 (GRCm39) F76L probably damaging Het
Hnrnpll A T 17: 80,341,527 (GRCm39) V504E probably damaging Het
Ifitm2 A G 7: 140,535,677 (GRCm39) V51A possibly damaging Het
Il16 C T 7: 83,295,708 (GRCm39) E456K probably damaging Het
Lmod2 A T 6: 24,603,615 (GRCm39) I197F possibly damaging Het
Lrrc14 T C 15: 76,597,983 (GRCm39) S238P possibly damaging Het
Map3k1 A G 13: 111,885,426 (GRCm39) probably benign Het
Phf11d C A 14: 59,586,797 (GRCm39) R210S probably benign Het
Pigu T C 2: 155,177,291 (GRCm39) N103S probably damaging Het
Rgsl1 A G 1: 153,701,587 (GRCm39) V289A probably benign Het
Rp1l1 T A 14: 64,265,864 (GRCm39) S483R probably damaging Het
Ryr2 A T 13: 11,739,273 (GRCm39) probably benign Het
Sema3c T G 5: 17,899,637 (GRCm39) probably benign Het
Septin4 G T 11: 87,458,184 (GRCm39) probably null Het
Sfmbt2 A G 2: 10,409,385 (GRCm39) Y110C probably damaging Het
Slc12a3 T C 8: 95,061,933 (GRCm39) V328A possibly damaging Het
Smarca2 G A 19: 26,601,375 (GRCm39) G31D probably damaging Het
Tenm2 T G 11: 35,914,157 (GRCm39) E2460A probably benign Het
Trim58 T A 11: 58,541,993 (GRCm39) W318R probably benign Het
Ube3a C T 7: 58,935,870 (GRCm39) Q585* probably null Het
Vmn2r17 T C 5: 109,582,256 (GRCm39) probably null Het
Zfp647 A G 15: 76,796,177 (GRCm39) V161A possibly damaging Het
Other mutations in Spmip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02958:Spmip1 APN 6 29,471,625 (GRCm39) missense probably damaging 1.00
R0511:Spmip1 UTSW 6 29,478,169 (GRCm39) unclassified probably benign
R2404:Spmip1 UTSW 6 29,473,390 (GRCm39) missense probably benign 0.02
R5943:Spmip1 UTSW 6 29,471,908 (GRCm39) missense possibly damaging 0.85
R6530:Spmip1 UTSW 6 29,471,950 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02