Incidental Mutation 'IGL02253:Spmip2'
ID 286528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip2
Ensembl Gene ENSMUSG00000091685
Gene Name sperm microtubule inner protein 2
Synonyms Gm17359
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02253
Quality Score
Status
Chromosome 3
Chromosomal Location 79243968-79371436 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 79356741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164216]
AlphaFold A0A0G2JEB7
Predicted Effect probably benign
Transcript: ENSMUST00000164216
SMART Domains Protein: ENSMUSP00000130702
Gene: ENSMUSG00000091685

DomainStartEndE-ValueType
Pfam:DUF4562 18 132 1.1e-59 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,807,182 (GRCm39) E76G probably benign Het
Adamtsl2 A T 2: 26,988,709 (GRCm39) T587S possibly damaging Het
Adgre4 T A 17: 56,067,573 (GRCm39) M9K probably benign Het
Aff2 T A X: 68,874,397 (GRCm39) V447E probably benign Het
Arhgef10l G T 4: 140,271,595 (GRCm39) S425* probably null Het
Cabcoco1 T C 10: 68,272,107 (GRCm39) probably null Het
Calcr T A 6: 3,707,523 (GRCm39) H259L probably benign Het
Cdc42bpa T A 1: 179,859,161 (GRCm39) probably benign Het
Cntnap5b C T 1: 100,091,936 (GRCm39) H540Y possibly damaging Het
Cyp2a22 A T 7: 26,637,662 (GRCm39) probably benign Het
Ddx3x T C X: 13,151,207 (GRCm39) probably benign Het
Dnajc11 T A 4: 152,034,976 (GRCm39) Y28* probably null Het
Dock11 T C X: 35,304,781 (GRCm39) F1472S probably damaging Het
Dusp18 T C 11: 3,847,576 (GRCm39) *189Q probably null Het
Dzip3 A T 16: 48,765,287 (GRCm39) Y476N probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Evc2 T A 5: 37,535,771 (GRCm39) probably benign Het
Fam151b A T 13: 92,614,435 (GRCm39) Y18N probably damaging Het
Gk5 T C 9: 96,019,824 (GRCm39) F120S probably damaging Het
Itprid2 A G 2: 79,490,788 (GRCm39) T969A probably damaging Het
Kcna3 T C 3: 106,944,727 (GRCm39) L330P probably damaging Het
Kctd20 A G 17: 29,180,460 (GRCm39) N7S probably benign Het
Kmt2b G T 7: 30,281,152 (GRCm39) R1276S probably damaging Het
Kmt2d C T 15: 98,756,056 (GRCm39) probably benign Het
L2hgdh G A 12: 69,752,534 (GRCm39) probably benign Het
Lifr T G 15: 7,220,085 (GRCm39) V905G probably damaging Het
Mcm3ap T A 10: 76,305,899 (GRCm39) V4E probably benign Het
Nrip3 A C 7: 109,360,951 (GRCm39) probably null Het
Nsun2 T G 13: 69,767,658 (GRCm39) V204G possibly damaging Het
Nup54 A G 5: 92,565,310 (GRCm39) probably null Het
Or5p69 T A 7: 107,967,261 (GRCm39) V188E possibly damaging Het
Or8c16 T A 9: 38,131,031 (GRCm39) M304K probably benign Het
Pdcl3 A G 1: 39,034,011 (GRCm39) D51G probably benign Het
Pdlim1 T C 19: 40,218,974 (GRCm39) E219G probably damaging Het
Pld4 A C 12: 112,733,141 (GRCm39) K239T probably damaging Het
Rgsl1 T C 1: 153,669,513 (GRCm39) Y291C probably damaging Het
Rnf213 C A 11: 119,331,476 (GRCm39) H2228Q probably benign Het
Rnf222 T A 11: 68,783,862 (GRCm39) I143N probably damaging Het
Sirt7 A G 11: 120,511,693 (GRCm39) I13T probably benign Het
Slfn10-ps A G 11: 82,919,890 (GRCm39) noncoding transcript Het
Slx4ip T C 2: 136,842,195 (GRCm39) probably null Het
Spata18 G T 5: 73,825,939 (GRCm39) S164I possibly damaging Het
Stk26 T C X: 49,975,565 (GRCm39) L212P probably damaging Het
Tmsb15a T C X: 134,620,451 (GRCm39) I56V probably benign Het
Tnrc6b T A 15: 80,760,742 (GRCm39) S150T probably damaging Het
Tubb3 T C 8: 124,147,559 (GRCm39) M164T probably benign Het
Zfp516 A G 18: 83,012,622 (GRCm39) D1125G probably benign Het
Zyg11a A C 4: 108,040,892 (GRCm39) V685G probably null Het
Other mutations in Spmip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Spmip2 APN 3 79,356,647 (GRCm39) missense probably damaging 0.98
IGL02152:Spmip2 APN 3 79,252,839 (GRCm39) missense possibly damaging 0.92
IGL02170:Spmip2 APN 3 79,356,742 (GRCm39) splice site probably benign
IGL02170:Spmip2 APN 3 79,356,741 (GRCm39) splice site probably benign
IGL02253:Spmip2 APN 3 79,356,742 (GRCm39) splice site probably benign
R0139:Spmip2 UTSW 3 79,313,142 (GRCm39) missense probably damaging 1.00
R0499:Spmip2 UTSW 3 79,313,093 (GRCm39) missense probably damaging 1.00
R6048:Spmip2 UTSW 3 79,313,192 (GRCm39) missense probably damaging 1.00
R6408:Spmip2 UTSW 3 79,356,706 (GRCm39) missense probably benign 0.34
R6767:Spmip2 UTSW 3 79,337,330 (GRCm39) missense probably benign 0.00
R7711:Spmip2 UTSW 3 79,313,167 (GRCm39) missense probably damaging 1.00
R8945:Spmip2 UTSW 3 79,252,812 (GRCm39) missense probably benign
R9088:Spmip2 UTSW 3 79,337,429 (GRCm39) missense probably damaging 1.00
R9563:Spmip2 UTSW 3 79,356,616 (GRCm39) missense probably benign 0.00
R9656:Spmip2 UTSW 3 79,313,183 (GRCm39) missense probably benign 0.04
R9687:Spmip2 UTSW 3 79,337,299 (GRCm39) missense possibly damaging 0.85
R9707:Spmip2 UTSW 3 79,313,167 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16