Incidental Mutation 'R9594:Spmip6'
ID 723146
Institutional Source Beutler Lab
Gene Symbol Spmip6
Ensembl Gene ENSMUSG00000028441
Gene Name sperm microtubule inner protein 6
Synonyms 1110017D15Rik, Smrp1, Cbe1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9594 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41505091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 207 (E207G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]
AlphaFold Q2MH31
Predicted Effect probably benign
Transcript: ENSMUST00000030152
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

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
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: E207G

Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aida T C 1: 183,095,012 (GRCm39) V151A possibly damaging Het
Akap3 T C 6: 126,842,377 (GRCm39) V332A probably damaging Het
Apobec3 T A 15: 79,790,653 (GRCm39) W332R Het
Atf6 A G 1: 170,668,402 (GRCm39) V166A probably benign Het
Bcl6b A G 11: 70,118,858 (GRCm39) probably null Het
Brd3 G T 2: 27,340,373 (GRCm39) P612Q probably damaging Het
Btg1 T A 10: 96,453,263 (GRCm39) L26H probably damaging Het
Btg4 A G 9: 51,030,560 (GRCm39) D220G probably damaging Het
Cd209e T C 8: 3,901,183 (GRCm39) D157G probably benign Het
Cdhr18 A T 14: 13,814,959 (GRCm38) L858Q unknown Het
Cimip2b T G 4: 43,427,329 (GRCm39) T332P unknown Het
Dnah10 T C 5: 124,907,107 (GRCm39) L4269P probably damaging Het
Dync1li2 C A 8: 105,154,752 (GRCm39) K285N possibly damaging Het
Ehmt2 C A 17: 35,118,740 (GRCm39) Q198K possibly damaging Het
Foxn3 C A 12: 99,359,294 (GRCm39) probably benign Het
Fstl4 C T 11: 52,664,694 (GRCm39) P8L probably benign Het
G6pc1 T C 11: 101,258,660 (GRCm39) I13T possibly damaging Het
Ghrhr A G 6: 55,362,470 (GRCm39) I356V probably benign Het
Gm14410 A T 2: 176,885,773 (GRCm39) C164S probably damaging Het
Gpcpd1 A T 2: 132,388,848 (GRCm39) M308K possibly damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Gpr179 T C 11: 97,225,727 (GRCm39) K2143E probably benign Het
Grm2 G A 9: 106,524,408 (GRCm39) T298I probably damaging Het
H2-T24 A T 17: 36,326,455 (GRCm39) L148Q probably damaging Het
Hcn2 C T 10: 79,560,559 (GRCm39) R297C probably damaging Het
Hic1 T C 11: 75,056,757 (GRCm39) T711A possibly damaging Het
Ide T C 19: 37,264,514 (GRCm39) D672G Het
Impg1 A G 9: 80,288,923 (GRCm39) F378S probably damaging Het
Lipe T C 7: 25,098,128 (GRCm39) probably benign Het
Lmo7 A G 14: 102,156,136 (GRCm39) D1270G probably null Het
Mbnl1 A T 3: 60,520,859 (GRCm39) H149L probably damaging Het
Mmel1 T C 4: 154,978,592 (GRCm39) Y675H probably benign Het
Mrfap1 C A 5: 36,953,807 (GRCm39) R44L probably damaging Het
Nherf2 G T 17: 24,868,922 (GRCm39) T68K probably damaging Het
Notch2 A G 3: 98,041,889 (GRCm39) T1303A possibly damaging Het
Olfm3 A G 3: 114,883,785 (GRCm39) D62G probably damaging Het
Or10ak13 T C 4: 118,638,952 (GRCm39) I277V probably benign Het
Or2i1 C G 17: 37,508,308 (GRCm39) A109P possibly damaging Het
Or5g27 C T 2: 85,409,882 (GRCm39) Q100* probably null Het
Or5l13 T C 2: 87,780,544 (GRCm39) E11G probably damaging Het
Or5p59 T G 7: 107,702,663 (GRCm39) I49S probably damaging Het
Or6c8b T A 10: 128,882,354 (GRCm39) I193F probably benign Het
Pcbd2 A G 13: 55,880,849 (GRCm39) Y68C probably benign Het
Phf3 G C 1: 30,869,003 (GRCm39) Q682E probably benign Het
Ptpn6 C A 6: 124,704,728 (GRCm39) R294L probably benign Het
Ptprz1 T A 6: 23,025,026 (GRCm39) V1754D probably damaging Het
Rab36 T A 10: 74,887,873 (GRCm39) I248K probably damaging Het
Rabac1 A G 7: 24,671,579 (GRCm39) Y114H probably benign Het
Rag1 A G 2: 101,474,701 (GRCm39) V147A probably benign Het
Rnf150 T A 8: 83,717,144 (GRCm39) V217D probably damaging Het
Scarf2 G T 16: 17,620,473 (GRCm39) C101F probably damaging Het
Sh3glb2 C T 2: 30,236,672 (GRCm39) R230Q probably damaging Het
Slc13a1 A G 6: 24,089,100 (GRCm39) V550A probably damaging Het
Sp140 A G 1: 85,560,235 (GRCm39) N289S possibly damaging Het
Stac3 T A 10: 127,338,654 (GRCm39) M1K probably null Het
Stk31 C T 6: 49,424,221 (GRCm39) T845I possibly damaging Het
Sufu T C 19: 46,385,674 (GRCm39) Y45H probably damaging Het
Tg T A 15: 66,607,109 (GRCm39) C1834* probably null Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Tpcn1 T C 5: 120,686,021 (GRCm39) T427A possibly damaging Het
Trim45 A G 3: 100,830,265 (GRCm39) H13R probably benign Het
Trpv5 A G 6: 41,647,773 (GRCm39) F347L probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Zfp236 G T 18: 82,664,238 (GRCm39) Q516K probably damaging 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-08-09