Incidental Mutation 'IGL01062:Spmip6'
ID 50830
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 # IGL01062
Quality Score
Status
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41511433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 93 (E93D)
Ref Sequence ENSEMBL: ENSMUSP00000092744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000095126]
AlphaFold Q2MH31
Predicted Effect probably damaging
Transcript: ENSMUST00000030152
AA Change: E93D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
AA Change: E93D

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095126
AA Change: E93D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: E93D

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 probably benign
Transcript: ENSMUST00000125303
AA Change: E11D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: E11D

DomainStartEndE-ValueType
Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138217
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Amer3 A G 1: 34,625,820 (GRCm39) K20E probably damaging Het
Arhgap31 A G 16: 38,421,818 (GRCm39) L1416P probably damaging Het
Avpr1a G A 10: 122,285,434 (GRCm39) C242Y probably damaging Het
Bclaf3 T C X: 158,336,415 (GRCm39) Y281H probably benign Het
Cdc14a T A 3: 116,068,361 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cntn4 T C 6: 106,595,239 (GRCm39) probably benign Het
Cyp3a44 T A 5: 145,731,149 (GRCm39) D217V possibly damaging Het
Eprs1 A G 1: 185,111,812 (GRCm39) E274G probably benign Het
Ercc6l2 G T 13: 63,995,268 (GRCm39) Q354H probably null Het
Glb1l A T 1: 75,177,882 (GRCm39) I392N probably damaging Het
Gm3173 T C 14: 15,728,472 (GRCm39) probably null Het
Hadh C T 3: 131,034,640 (GRCm39) V219M probably damaging Het
Hspb9 A G 11: 100,604,761 (GRCm39) H29R possibly damaging Het
Iqgap3 G T 3: 88,017,429 (GRCm39) V240L probably benign Het
Jmjd1c T C 10: 67,062,494 (GRCm39) S1616P probably damaging Het
Knl1 A G 2: 118,907,461 (GRCm39) I1662V probably benign Het
Maco1 A T 4: 134,560,608 (GRCm39) V125E probably damaging Het
Mapre3 A G 5: 31,022,240 (GRCm39) I236V probably benign Het
Med17 T C 9: 15,190,917 (GRCm39) E58G probably benign Het
Myh6 T C 14: 55,189,749 (GRCm39) E1099G probably damaging Het
Myt1 T A 2: 181,439,522 (GRCm39) V348D probably damaging Het
Nat10 A T 2: 103,573,393 (GRCm39) I368N probably damaging Het
Nol6 T C 4: 41,118,205 (GRCm39) I811V probably benign Het
Oas1d C A 5: 121,057,127 (GRCm39) Y244* probably null Het
Or6e1 A T 14: 54,520,181 (GRCm39) M57K probably damaging Het
Osbpl1a A G 18: 13,038,132 (GRCm39) V273A probably benign Het
Pigw T C 11: 84,768,769 (GRCm39) R187G probably benign Het
Plekhg5 G A 4: 152,192,953 (GRCm39) D603N probably damaging Het
Ptprk T C 10: 28,456,414 (GRCm39) V1058A probably damaging Het
Robo4 G A 9: 37,317,296 (GRCm39) S537N probably benign Het
Rptn T A 3: 93,304,489 (GRCm39) F607L probably benign Het
Sall1 A G 8: 89,759,972 (GRCm39) V44A probably damaging Het
Sh3bp4 C A 1: 89,071,682 (GRCm39) Q177K probably benign Het
Skic3 T A 13: 76,303,581 (GRCm39) L1225* probably null Het
Srrt C A 5: 137,294,569 (GRCm39) G779V probably damaging Het
Tamalin A G 15: 101,126,777 (GRCm39) probably benign Het
Tex21 T C 12: 76,245,718 (GRCm39) D526G probably benign Het
Vmn1r10 A G 6: 57,090,821 (GRCm39) S138G possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp454 T C 11: 50,765,033 (GRCm39) E22G probably benign Het
Zzef1 T A 11: 72,765,795 (GRCm39) C1441S probably benign Het
Other mutations in Spmip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Spmip6 APN 4 41,507,178 (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 2013-06-21