Incidental Mutation 'IGL00820:Spmip6'
ID 8409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip6
Ensembl Gene ENSMUSG00000028441
Gene Name sperm microtubule inner protein 6
Synonyms 1110017D15Rik, Smrp1, Cbe1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00820
Quality Score
Status
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41507178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 206 (L206Q)
Ref Sequence ENSEMBL: ENSMUSP00000030152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]
AlphaFold Q2MH31
Predicted Effect probably damaging
Transcript: ENSMUST00000030152
AA Change: L206Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
AA Change: L206Q

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054920
SMART Domains Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312

DomainStartEndE-ValueType
transmembrane domain 56 78 N/A INTRINSIC
Pfam:Glyco_hydro_31 311 712 9.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095126
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124019
Predicted Effect unknown
Transcript: ENSMUST00000125303
AA Change: L124Q
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: L124Q

DomainStartEndE-ValueType
Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138217
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,083,878 (GRCm39) I631F probably benign Het
Baiap3 T C 17: 25,467,664 (GRCm39) D314G probably benign Het
Ccl1 T C 11: 82,068,914 (GRCm39) E41G possibly damaging Het
Ephx1 T C 1: 180,827,386 (GRCm39) Y89C possibly damaging Het
Fbxw18 G A 9: 109,522,437 (GRCm39) T144I probably damaging Het
Galt C T 4: 41,758,570 (GRCm39) A357V probably benign Het
Gfra1 T C 19: 58,252,337 (GRCm39) probably benign Het
Hivep1 A T 13: 42,337,294 (GRCm39) I2458L probably benign Het
Itga8 A G 2: 12,237,703 (GRCm39) V339A possibly damaging Het
Klk1b8 T C 7: 43,604,210 (GRCm39) I226T probably benign Het
Mfsd6 C T 1: 52,747,465 (GRCm39) V467M probably damaging Het
Mrpl16 T C 19: 11,751,777 (GRCm39) V179A probably benign Het
Or52e19b G A 7: 103,032,672 (GRCm39) T179I probably damaging Het
Pnpla6 A G 8: 3,582,358 (GRCm39) T693A possibly damaging Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Slc34a1 A G 13: 24,003,317 (GRCm39) H285R probably benign Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Sptb A G 12: 76,679,251 (GRCm39) L68P probably damaging Het
Stxbp6 G A 12: 44,908,129 (GRCm39) T163I probably damaging Het
Tex15 A G 8: 34,069,034 (GRCm39) probably benign Het
Tti1 T C 2: 157,850,888 (GRCm39) E117G probably damaging Het
Ube4b T C 4: 149,437,378 (GRCm39) probably benign Het
Wipi1 A C 11: 109,473,945 (GRCm39) probably benign Het
Zan A T 5: 137,384,626 (GRCm39) C5133S unknown Het
Other mutations in Spmip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Spmip6 APN 4 41,511,433 (GRCm39) missense probably damaging 1.00
IGL02645:Spmip6 APN 4 41,517,080 (GRCm39) missense probably damaging 1.00
IGL03124:Spmip6 APN 4 41,507,287 (GRCm39) missense possibly damaging 0.87
R0284:Spmip6 UTSW 4 41,507,538 (GRCm39) missense probably damaging 1.00
R1760:Spmip6 UTSW 4 41,507,330 (GRCm39) critical splice acceptor site probably null
R1761:Spmip6 UTSW 4 41,507,223 (GRCm39) missense probably damaging 1.00
R2073:Spmip6 UTSW 4 41,507,519 (GRCm39) critical splice donor site probably null
R2180:Spmip6 UTSW 4 41,507,170 (GRCm39) missense probably benign 0.00
R4414:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4415:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4416:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4417:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4516:Spmip6 UTSW 4 41,517,200 (GRCm39) unclassified probably benign
R5132:Spmip6 UTSW 4 41,517,178 (GRCm39) unclassified probably benign
R6132:Spmip6 UTSW 4 41,517,160 (GRCm39) start codon destroyed probably null 0.98
R6413:Spmip6 UTSW 4 41,505,135 (GRCm39) missense possibly damaging 0.86
R8519:Spmip6 UTSW 4 41,505,071 (GRCm39) missense possibly damaging 0.93
R9493:Spmip6 UTSW 4 41,508,614 (GRCm39) missense
R9594:Spmip6 UTSW 4 41,505,091 (GRCm39) missense
Posted On 2012-12-06