Incidental Mutation 'R1761:Spmip6'
ID 192754
Institutional Source Beutler Lab
Gene Symbol Spmip6
Ensembl Gene ENSMUSG00000028441
Gene Name sperm microtubule inner protein 6
Synonyms 1110017D15Rik, Smrp1, Cbe1
MMRRC Submission 039793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1761 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41507223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 109 (P109L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]
AlphaFold Q2MH31
Predicted Effect probably damaging
Transcript: ENSMUST00000030152
AA Change: P191L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
AA Change: P191L

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

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

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 damaging
Transcript: ENSMUST00000125303
AA Change: P109L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: P109L

Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,672 (GRCm39) H1268Y possibly damaging Het
Acan T A 7: 78,743,833 (GRCm39) Y621* probably null Het
Aig1 T C 10: 13,566,328 (GRCm39) Y152C probably damaging Het
Arhgap33 C T 7: 30,232,488 (GRCm39) probably null Het
Bcl6 G T 16: 23,796,292 (GRCm39) A45D probably damaging Het
Cbx5 T C 15: 103,121,607 (GRCm39) D10G possibly damaging Het
Ccdc191 A G 16: 43,763,873 (GRCm39) I445V probably benign Het
Cdk4 T A 10: 126,900,546 (GRCm39) probably benign Het
Chil6 A G 3: 106,301,654 (GRCm39) F149L probably damaging Het
Cntn5 T C 9: 10,172,059 (GRCm39) T42A probably benign Het
Cpn2 A T 16: 30,079,014 (GRCm39) I229N probably damaging Het
Cpne8 A G 15: 90,532,821 (GRCm39) V62A probably damaging Het
Cr2 A G 1: 194,837,431 (GRCm39) probably null Het
Crnn A T 3: 93,055,958 (GRCm39) H248L probably benign Het
Csn1s1 A G 5: 87,826,894 (GRCm39) S254G probably benign Het
Cubn A G 2: 13,494,128 (GRCm39) probably null Het
Dnah8 A G 17: 30,998,890 (GRCm39) N3525S probably damaging Het
Dpp3 A G 19: 4,971,177 (GRCm39) L220P probably benign Het
Fam110a T C 2: 151,812,125 (GRCm39) E215G probably benign Het
Fam20a A T 11: 109,568,664 (GRCm39) N287K probably damaging Het
Fat4 T C 3: 38,941,638 (GRCm39) V177A possibly damaging Het
Fzd8 C T 18: 9,213,643 (GRCm39) R242C probably damaging Het
Gimap5 A T 6: 48,730,195 (GRCm39) Q255L probably damaging Het
Gm4787 A G 12: 81,423,950 (GRCm39) L736S probably benign Het
Gmeb1 G A 4: 131,962,198 (GRCm39) Q154* probably null Het
Gpr156 T C 16: 37,807,929 (GRCm39) L192P probably damaging Het
Gpr179 A C 11: 97,225,932 (GRCm39) S2074R probably benign Het
Hddc2 G T 10: 31,202,135 (GRCm39) D161Y probably damaging Het
Hlcs T C 16: 94,068,866 (GRCm39) D265G probably benign Het
Hspg2 A T 4: 137,241,984 (GRCm39) I573F possibly damaging Het
Il1b T C 2: 129,207,101 (GRCm39) K220E probably damaging Het
Il5 T C 11: 53,614,557 (GRCm39) I66T probably damaging Het
Irf6 G A 1: 192,851,609 (GRCm39) R400H probably damaging Het
Klra1 A T 6: 130,349,836 (GRCm39) Y201N probably damaging Het
Lmf2 A G 15: 89,236,916 (GRCm39) V442A possibly damaging Het
Mcm2 T C 6: 88,866,770 (GRCm39) I412M possibly damaging Het
Mlkl T A 8: 112,060,355 (GRCm39) L18F possibly damaging Het
Mug2 C A 6: 122,051,664 (GRCm39) H949N probably benign Het
Nf1 T C 11: 79,275,091 (GRCm39) F51L probably damaging Het
Or52j3 T G 7: 102,836,325 (GRCm39) C172W probably damaging Het
Or7d10 A T 9: 19,832,445 (GRCm39) *313C probably null Het
Or8k18 T G 2: 86,085,383 (GRCm39) Y218S probably damaging Het
P3h2 T C 16: 25,803,800 (GRCm39) E322G probably damaging Het
Pramel21 T C 4: 143,342,438 (GRCm39) Y182H probably benign Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Ptdss1 T C 13: 67,104,476 (GRCm39) V116A possibly damaging Het
Ranbp2 T C 10: 58,321,563 (GRCm39) V2620A probably benign Het
Robo2 A G 16: 73,831,912 (GRCm39) V256A probably damaging Het
Scg3 T A 9: 75,584,040 (GRCm39) I154F probably damaging Het
Scgn A T 13: 24,143,689 (GRCm39) F225Y probably damaging Het
Sec61b T C 4: 47,480,137 (GRCm39) C58R possibly damaging Het
Slc25a46 G T 18: 31,740,315 (GRCm39) Q96K possibly damaging Het
Sptb A G 12: 76,659,382 (GRCm39) F1173L probably damaging Het
Srcap T A 7: 127,134,017 (GRCm39) C893S probably damaging Het
Tet3 T C 6: 83,380,641 (GRCm39) E509G probably damaging Het
Timm10b C T 7: 105,332,915 (GRCm39) R897* probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tom1 T C 8: 75,778,179 (GRCm39) V87A probably benign Het
Tti1 T C 2: 157,849,617 (GRCm39) I541V probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubb1 A G 2: 174,298,689 (GRCm39) S124G probably benign Het
Vgll3 A T 16: 65,636,614 (GRCm39) D310V probably damaging Het
Vmac A G 17: 57,022,788 (GRCm39) L74P probably damaging Het
Zbtb1 A T 12: 76,432,595 (GRCm39) K194* probably null Het
Zfp429 A G 13: 67,544,195 (GRCm39) M76T probably benign Het
Zfp808 T A 13: 62,319,460 (GRCm39) C230S possibly damaging Het
Zfp980 A G 4: 145,428,612 (GRCm39) Y447C probably damaging Het
Zfp985 A G 4: 147,668,502 (GRCm39) T457A 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- cccatttttgtcgctgcc -3'
Posted On 2014-05-23