Incidental Mutation 'R6689:Spmip4'
ID 527886
Institutional Source Beutler Lab
Gene Symbol Spmip4
Ensembl Gene ENSMUSG00000029828
Gene Name sperm microtubule inner protein 4
Synonyms 4921507P07Rik
MMRRC Submission 044807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 50550282-50573612 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 50566089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031852]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000031852
SMART Domains Protein: ENSMUSP00000031852
Gene: ENSMUSG00000029828

DomainStartEndE-ValueType
Pfam:DUF4555 1 283 2e-149 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147260
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T A 9: 49,331,776 (GRCm39) I173F probably damaging Het
Aurka A G 2: 172,212,313 (GRCm39) probably null Het
B4galnt4 C T 7: 140,647,897 (GRCm39) T471I probably benign Het
Ccn1 T A 3: 145,353,543 (GRCm39) M340L probably benign Het
Commd6 C A 14: 101,877,895 (GRCm39) probably benign Het
Elobl T C 11: 88,855,919 (GRCm39) N48S possibly damaging Het
Grem1 T C 2: 113,580,276 (GRCm39) E75G probably benign Het
Hp C T 8: 110,302,352 (GRCm39) V199I probably benign Het
Kcna2 C A 3: 107,012,343 (GRCm39) S308Y probably damaging Het
Lgr5 T A 10: 115,302,513 (GRCm39) I293F probably damaging Het
Lmln A G 16: 32,925,152 (GRCm39) R462G probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Mroh4 A G 15: 74,483,852 (GRCm39) V495A probably damaging Het
Or10c1 C G 17: 37,522,048 (GRCm39) G232A probably damaging Het
Or8h10 A G 2: 86,808,498 (GRCm39) I214T probably benign Het
Stim2 G A 5: 54,273,318 (GRCm39) R524H probably damaging Het
Other mutations in Spmip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Spmip4 APN 6 50,566,164 (GRCm39) critical splice acceptor site probably null
IGL01310:Spmip4 APN 6 50,551,175 (GRCm39) missense probably benign
IGL01568:Spmip4 APN 6 50,550,678 (GRCm39) utr 3 prime probably benign
IGL01794:Spmip4 APN 6 50,554,826 (GRCm39) missense probably damaging 1.00
IGL02718:Spmip4 APN 6 50,561,367 (GRCm39) missense probably damaging 1.00
IGL03146:Spmip4 APN 6 50,550,853 (GRCm39) missense probably damaging 0.97
IGL03381:Spmip4 APN 6 50,566,116 (GRCm39) missense probably damaging 1.00
R1173:Spmip4 UTSW 6 50,566,121 (GRCm39) missense probably damaging 0.98
R1174:Spmip4 UTSW 6 50,566,121 (GRCm39) missense probably damaging 0.98
R1175:Spmip4 UTSW 6 50,566,121 (GRCm39) missense probably damaging 0.98
R1769:Spmip4 UTSW 6 50,568,801 (GRCm39) splice site probably benign
R1883:Spmip4 UTSW 6 50,551,433 (GRCm39) missense probably benign 0.01
R2056:Spmip4 UTSW 6 50,550,725 (GRCm39) missense possibly damaging 0.71
R2437:Spmip4 UTSW 6 50,560,959 (GRCm39) missense probably damaging 1.00
R2929:Spmip4 UTSW 6 50,551,285 (GRCm39) missense probably benign 0.07
R4357:Spmip4 UTSW 6 50,551,190 (GRCm39) missense probably benign
R4666:Spmip4 UTSW 6 50,572,808 (GRCm39) missense possibly damaging 0.69
R4791:Spmip4 UTSW 6 50,572,817 (GRCm39) missense probably damaging 1.00
R4827:Spmip4 UTSW 6 50,572,836 (GRCm39) missense possibly damaging 0.76
R4976:Spmip4 UTSW 6 50,566,164 (GRCm39) critical splice acceptor site probably null
R5453:Spmip4 UTSW 6 50,572,776 (GRCm39) critical splice donor site probably null
R6897:Spmip4 UTSW 6 50,566,145 (GRCm39) missense possibly damaging 0.82
R7718:Spmip4 UTSW 6 50,566,078 (GRCm39) splice site probably null
R8475:Spmip4 UTSW 6 50,566,107 (GRCm39) missense probably damaging 0.99
R8885:Spmip4 UTSW 6 50,551,028 (GRCm39) missense possibly damaging 0.95
R8975:Spmip4 UTSW 6 50,561,391 (GRCm39) missense probably damaging 1.00
R9626:Spmip4 UTSW 6 50,550,930 (GRCm39) missense
X0021:Spmip4 UTSW 6 50,550,906 (GRCm39) missense probably benign
Z1176:Spmip4 UTSW 6 50,551,001 (GRCm39) missense possibly damaging 0.55
Z1177:Spmip4 UTSW 6 50,568,672 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CACAGAGCCTGTTTGGTTTG -3'
(R):5'- GCCTGTTTAGGGAAAACTTCTTAC -3'

Sequencing Primer
(F):5'- GTTTGTTTCCATTTGCTTAGTGC -3'
(R):5'- ATGCTCTCTGTAGAAGCTCTGTATAG -3'
Posted On 2018-07-23