Incidental Mutation 'N/A:Spmip3'
ID 1
Institutional Source Beutler Lab
Gene Symbol Spmip3
Ensembl Gene ENSMUSG00000015962
Gene Name sperm microtubule inner protein 3
Synonyms 1700016C15Rik
Accession Numbers
Essential gene? Not available question?
Stock # N/A of strain 294
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 177557380-177580890 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 177561100 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Arginine to Histidine at position 13 (R13H)
Ref Sequence ENSEMBL: ENSMUSP00000016106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016106]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000016106
AA Change: R13H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016106
Gene: ENSMUSG00000015962
AA Change: R13H

DomainStartEndE-ValueType
low complexity region 75 86 N/A INTRINSIC
Meta Mutation Damage Score 0.2405 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 76.0%
Validation Efficiency 91% (106/116)
Allele List at MGI

none

Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016P04Rik T A 6: 13,415,772 (GRCm39) noncoding transcript Homo
Aif1 A G 17: 35,391,496 (GRCm39) L7S possibly damaging Homo
Ankrd26 T C 6: 118,506,535 (GRCm39) D646G probably benign Homo
Cacna1s A G 1: 136,001,247 (GRCm39) I233V probably benign Homo
Cfap92 A T 6: 87,667,773 (GRCm39) noncoding transcript Homo
Chchd4 T C 6: 91,442,187 (GRCm39) Y77C probably damaging Homo
Crocc G A 4: 140,749,057 (GRCm39) R1419C probably damaging Homo
Cyp4f39 A C 17: 32,687,655 (GRCm39) M74L probably benign Homo
Fgf9 C A 14: 58,327,421 (GRCm39) probably benign Homo
Gimap6 T C 6: 48,679,349 (GRCm39) D229G probably damaging Homo
Glp1r T C 17: 31,150,257 (GRCm39) F393S probably damaging Homo
Lrrc7 T G 3: 157,865,977 (GRCm39) I1255L probably benign Homo
Mtrr C A 13: 68,723,516 (GRCm39) probably benign Homo
Pde6b A T 5: 108,576,969 (GRCm39) probably benign Homo
Rbm19 A T 5: 120,282,162 (GRCm39) I840F probably damaging Homo
Serpina3c A C 12: 104,115,864 (GRCm39) S227A probably benign Homo
Spag17 G A 3: 99,889,570 (GRCm39) probably benign Homo
Zbtb8b T C 4: 129,326,361 (GRCm39) D268G probably benign Homo
Other mutations in Spmip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Spmip3 APN 1 177,568,640 (GRCm39) missense probably benign
IGL01542:Spmip3 APN 1 177,570,950 (GRCm39) missense possibly damaging 0.94
IGL02329:Spmip3 APN 1 177,570,867 (GRCm39) missense probably benign 0.05
R0850:Spmip3 UTSW 1 177,568,571 (GRCm39) missense probably benign
R7739:Spmip3 UTSW 1 177,570,828 (GRCm39) missense probably damaging 0.97
R9426:Spmip3 UTSW 1 177,570,834 (GRCm39) nonsense probably null
R9485:Spmip3 UTSW 1 177,580,545 (GRCm39) missense possibly damaging 0.90
Z1176:Spmip3 UTSW 1 177,568,583 (GRCm39) missense possibly damaging 0.95
Nature of Mutation
DNA sequencing using the SOLiD technique identified a G to A transition at position 208 of the 1700016C15Rik transcript, in exon 2 of 6 total exons (Figure 1).
 
192 GAATTTGTAGAGCGTCGCCCATCGATTCCACCT
8   -E--F--V--E--R--R--P--S--I--P--P-
 
The mutated nucleotide is indicated in red lettering, and causes an arginine to histidine substitution at amino acid 13 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 2).
Protein Function and Prediction
1700016C15Rik is an uncharacterized gene with evidence at the transcript level for the existence of the encoded protein (Uniprot Q9DAA7). No similarity to known domain families is identified in the predicted protein sequence by the SMART program. The R13H mutation is predicted to be possibly damaging by the PolyPhen program.
Posted On 2009-10-27