Incidental Mutation 'IGL02645:Spmip6'
ID 301904
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 # IGL02645
Quality Score
Status
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41517080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 28 (V28A)
Ref Sequence ENSEMBL: ENSMUSP00000092744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000095126] [ENSMUST00000108049] [ENSMUST00000108050] [ENSMUST00000108052]
AlphaFold Q2MH31
Predicted Effect probably damaging
Transcript: ENSMUST00000030152
AA Change: V28A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
AA Change: V28A

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095126
AA Change: V28A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: V28A

DomainStartEndE-ValueType
Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108049
SMART Domains Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439

DomainStartEndE-ValueType
Pfam:FAM219A 26 157 2.7e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108050
SMART Domains Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439

DomainStartEndE-ValueType
Pfam:FAM219A 26 156 8.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108052
SMART Domains Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439

DomainStartEndE-ValueType
Pfam:FAM219A 37 168 1.6e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130288
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,804 (GRCm39) Y48C probably damaging Het
Aox1 T A 1: 58,373,883 (GRCm39) M848K probably damaging Het
Apol7c A T 15: 77,413,083 (GRCm39) S56T probably benign Het
Asic4 G A 1: 75,449,998 (GRCm39) probably benign Het
Asxl1 A G 2: 153,234,777 (GRCm39) K162R possibly damaging Het
Car12 T A 9: 66,654,961 (GRCm39) H130Q probably benign Het
Cars1 T C 7: 143,111,646 (GRCm39) E737G probably damaging Het
Ccdc141 G A 2: 76,905,211 (GRCm39) R412* probably null Het
Cd36 T C 5: 17,990,878 (GRCm39) T421A probably benign Het
Clasp2 T G 9: 113,719,129 (GRCm39) M758R probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Ebf4 A G 2: 130,203,761 (GRCm39) K471E probably damaging Het
Fat2 T A 11: 55,173,654 (GRCm39) D2353V probably damaging Het
Gm10136 A G 19: 28,981,140 (GRCm39) probably benign Het
Intu A G 3: 40,655,702 (GRCm39) I930V probably benign Het
Ndrg2 T A 14: 52,143,979 (GRCm39) M300L possibly damaging Het
Nhs A G X: 160,942,054 (GRCm39) S111P probably benign Het
Nme8 T A 13: 19,844,755 (GRCm39) L111F probably damaging Het
Nol8 T A 13: 49,818,947 (GRCm39) probably null Het
Or10g1b T A 14: 52,627,958 (GRCm39) T91S possibly damaging Het
Or12e13 C T 2: 87,663,959 (GRCm39) T192M probably benign Het
Or4a76 T C 2: 89,460,679 (GRCm39) T188A probably benign Het
Or4c116 T C 2: 88,941,963 (GRCm39) R298G probably benign Het
Pcdhac2 G A 18: 37,278,292 (GRCm39) G424D probably damaging Het
Pex3 T G 10: 13,422,173 (GRCm39) E42D possibly damaging Het
Plxnb1 C T 9: 108,943,311 (GRCm39) probably benign Het
Rpe65 T A 3: 159,312,128 (GRCm39) I209N probably damaging Het
Rsl1 T A 13: 67,330,273 (GRCm39) F240L probably benign Het
Rttn A T 18: 89,128,810 (GRCm39) I1921F probably benign Het
Scn3a A T 2: 65,344,871 (GRCm39) F539Y probably benign Het
Secisbp2 T A 13: 51,836,496 (GRCm39) M767K probably damaging Het
Sipa1l3 C T 7: 29,028,405 (GRCm39) probably null Het
Slfn8 T C 11: 82,894,380 (GRCm39) N753S possibly damaging Het
Sympk T G 7: 18,786,349 (GRCm39) V984G probably damaging Het
Tacr3 A T 3: 134,566,943 (GRCm39) D272V possibly damaging Het
Timd6 A G 11: 46,477,047 (GRCm39) R167G probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Zfp804a T C 2: 81,884,220 (GRCm39) L29P possibly damaging Het
Zfp94 C T 7: 24,003,179 (GRCm39) G88R probably benign Het
Other mutations in Spmip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Spmip6 APN 4 41,507,178 (GRCm39) missense probably damaging 1.00
IGL01062:Spmip6 APN 4 41,511,433 (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 2015-04-16