Incidental Mutation 'IGL01567:Spmip7'
ID 91019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip7
Ensembl Gene ENSMUSG00000020191
Gene Name sperm microtubule inner protein 7
Synonyms Spata48, post meiotic spermatogenesis 1, 4930415F15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01567
Quality Score
Status
Chromosome 11
Chromosomal Location 11412094-11465192 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11465015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 122 (H122R)
Ref Sequence ENSEMBL: ENSMUSP00000105300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020410] [ENSMUST00000109678]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000020410
AA Change: H418R
SMART Domains Protein: ENSMUSP00000020410
Gene: ENSMUSG00000020191
AA Change: H418R

DomainStartEndE-ValueType
Pfam:DUF4540 90 217 2.5e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109678
AA Change: H122R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105300
Gene: ENSMUSG00000020191
AA Change: H122R

DomainStartEndE-ValueType
Pfam:DUF4540 17 146 4.6e-70 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,071,628 (GRCm39) S317G probably benign Het
Akna T C 4: 63,300,087 (GRCm39) T652A probably benign Het
Anxa9 G A 3: 95,209,743 (GRCm39) probably benign Het
Bpifb4 T A 2: 153,789,198 (GRCm39) probably benign Het
Bptf A G 11: 106,949,600 (GRCm39) S2125P probably damaging Het
Capns2 C A 8: 93,628,634 (GRCm39) H174Q probably benign Het
Cd200 A C 16: 45,215,054 (GRCm39) L199R probably damaging Het
Clasp2 T C 9: 113,709,164 (GRCm39) V651A probably damaging Het
Cox18 G A 5: 90,365,447 (GRCm39) Q251* probably null Het
Depdc1a T C 3: 159,232,183 (GRCm39) S645P probably damaging Het
Dio3 T A 12: 110,245,861 (GRCm39) C66S possibly damaging Het
Dock9 A T 14: 121,890,496 (GRCm39) L258Q probably damaging Het
Ghrhr A G 6: 55,361,108 (GRCm39) D274G probably damaging Het
Gm5129 A G 5: 29,940,862 (GRCm39) probably benign Het
Grb7 A G 11: 98,345,776 (GRCm39) N518S probably damaging Het
Kdm5b G A 1: 134,530,278 (GRCm39) A430T probably damaging Het
Map10 C A 8: 126,398,232 (GRCm39) Q542K probably benign Het
Metap1 T C 3: 138,168,150 (GRCm39) T325A probably damaging Het
Ncan A T 8: 70,560,984 (GRCm39) M661K probably benign Het
Or2f1b T C 6: 42,739,661 (GRCm39) I225T probably benign Het
Or51h5 A G 7: 102,577,623 (GRCm39) I263V probably benign Het
Otog T C 7: 45,926,039 (GRCm39) probably benign Het
Pip4k2b T C 11: 97,620,387 (GRCm39) D116G probably damaging Het
Rps15 T A 10: 80,129,643 (GRCm39) L86Q probably benign Het
Sfxn4 G T 19: 60,842,336 (GRCm39) T122K probably damaging Het
Slc4a3 T C 1: 75,527,526 (GRCm39) V165A probably damaging Het
Synm A G 7: 67,384,980 (GRCm39) V452A probably damaging Het
Tdpoz1 T C 3: 93,578,013 (GRCm39) H257R possibly damaging Het
Tmem26 A G 10: 68,587,061 (GRCm39) T170A probably damaging Het
Wdfy4 T G 14: 32,873,618 (GRCm39) E230D probably benign Het
Other mutations in Spmip7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1618:Spmip7 UTSW 11 11,438,641 (GRCm39) unclassified probably benign
R1625:Spmip7 UTSW 11 11,438,644 (GRCm39) unclassified probably benign
R2113:Spmip7 UTSW 11 11,440,293 (GRCm39) splice site probably null
R4788:Spmip7 UTSW 11 11,438,652 (GRCm39) splice site probably null
R5439:Spmip7 UTSW 11 11,440,244 (GRCm39) missense possibly damaging 0.53
R5932:Spmip7 UTSW 11 11,438,513 (GRCm39) unclassified probably benign
R6529:Spmip7 UTSW 11 11,465,009 (GRCm39) missense possibly damaging 0.71
R8160:Spmip7 UTSW 11 11,437,734 (GRCm39) missense unknown
R9264:Spmip7 UTSW 11 11,414,678 (GRCm39) missense
R9773:Spmip7 UTSW 11 11,438,572 (GRCm39) missense unknown
Posted On 2013-12-09