Incidental Mutation 'R4417:Spmip6'
ID 326873
Institutional Source Beutler Lab
Gene Symbol Spmip6
Ensembl Gene ENSMUSG00000028441
Gene Name sperm microtubule inner protein 6
Synonyms 1110017D15Rik, Smrp1, Cbe1
MMRRC Submission 041138-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4417 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41505574 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 183 (T183A)
Ref Sequence ENSEMBL: ENSMUSP00000092744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]
AlphaFold Q2MH31
Predicted Effect silent
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 possibly damaging
Transcript: ENSMUST00000095126
AA Change: T183A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: T183A

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: N179S
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: N179S

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (53/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T A 1: 85,726,463 (GRCm38) Y51F probably damaging Het
Abi3bp C A 16: 56,654,035 (GRCm38) T631K probably damaging Het
BC004004 G A 17: 29,282,275 (GRCm38) probably benign Het
Cabp1 G A 5: 115,186,037 (GRCm38) S7L possibly damaging Het
Cdc23 ACC AC 18: 34,637,318 (GRCm38) probably null Het
Clhc1 T C 11: 29,571,826 (GRCm38) I453T possibly damaging Het
Col28a1 T A 6: 8,175,666 (GRCm38) I61F possibly damaging Het
Col2a1 T C 15: 97,998,585 (GRCm38) E61G unknown Het
Col6a4 C T 9: 106,072,016 (GRCm38) V807I probably damaging Het
Crhbp T C 13: 95,443,877 (GRCm38) S65G probably benign Het
Dnah9 T A 11: 65,981,214 (GRCm38) Q2730L possibly damaging Het
Epx T A 11: 87,869,430 (GRCm38) R453* probably null Het
Fez1 T C 9: 36,870,472 (GRCm38) probably benign Het
G530012D18Rik G C 1: 85,577,202 (GRCm38) probably benign Het
Glp2r T C 11: 67,664,516 (GRCm38) probably benign Het
Gpm6a T A 8: 55,050,188 (GRCm38) N157K probably damaging Het
Kcnj2 T C 11: 111,072,189 (GRCm38) S136P probably damaging Het
Lad1 A G 1: 135,828,746 (GRCm38) D364G probably benign Het
Lcp2 G T 11: 34,050,917 (GRCm38) E33D probably benign Het
Lrrc32 G T 7: 98,498,937 (GRCm38) R308L probably benign Het
Matr3 C A 18: 35,572,118 (GRCm38) A32D probably damaging Het
Mfsd12 A G 10: 81,364,703 (GRCm38) probably benign Het
Mtmr11 T C 3: 96,167,891 (GRCm38) probably benign Het
Notch2 A G 3: 98,131,270 (GRCm38) D1243G possibly damaging Het
Odf2 T A 2: 29,915,321 (GRCm38) probably benign Het
Oit3 T C 10: 59,428,103 (GRCm38) Y403C probably damaging Het
Or4c125 T C 2: 89,339,987 (GRCm38) E105G probably benign Het
Pasd1 G A X: 71,939,619 (GRCm38) C399Y possibly damaging Het
Pitpnm2 G T 5: 124,123,569 (GRCm38) R977S probably damaging Het
Prdm13 T C 4: 21,678,756 (GRCm38) E578G probably benign Het
Pum3 A G 19: 27,422,716 (GRCm38) I183T probably damaging Het
Rdh14 G A 12: 10,391,231 (GRCm38) probably null Het
Slc35b2 G A 17: 45,566,429 (GRCm38) V161M probably benign Het
Slit1 A G 19: 41,614,469 (GRCm38) C968R probably damaging Het
Spag9 A T 11: 94,060,346 (GRCm38) probably benign Het
Stox1 T C 10: 62,659,569 (GRCm38) N975S probably benign Het
Stradb T C 1: 58,994,372 (GRCm38) V398A probably benign Het
Tlr4 A T 4: 66,839,303 (GRCm38) N111I probably damaging Het
Tnip2 G A 5: 34,503,581 (GRCm38) R176* probably null Het
Tomm7 A G 5: 23,843,979 (GRCm38) I32T probably benign Het
Trank1 T C 9: 111,365,968 (GRCm38) I1020T probably benign Het
Ugt1a10 T G 1: 88,055,995 (GRCm38) S172A probably benign Het
Vmn2r115 T A 17: 23,345,880 (GRCm38) M247K probably benign Het
Zfp341 T C 2: 154,628,987 (GRCm38) L308P possibly damaging Het
Zmym6 T C 4: 127,092,988 (GRCm38) S154P probably damaging Het
Other mutations in Spmip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Spmip6 APN 4 41,507,178 (GRCm38) missense probably damaging 1.00
IGL01062:Spmip6 APN 4 41,511,433 (GRCm38) missense probably damaging 1.00
IGL02645:Spmip6 APN 4 41,517,080 (GRCm38) missense probably damaging 1.00
IGL03124:Spmip6 APN 4 41,507,287 (GRCm38) missense possibly damaging 0.87
R0284:Spmip6 UTSW 4 41,507,538 (GRCm38) missense probably damaging 1.00
R1760:Spmip6 UTSW 4 41,507,330 (GRCm38) critical splice acceptor site probably null
R1761:Spmip6 UTSW 4 41,507,223 (GRCm38) missense probably damaging 1.00
R2073:Spmip6 UTSW 4 41,507,519 (GRCm38) critical splice donor site probably null
R2180:Spmip6 UTSW 4 41,507,170 (GRCm38) missense probably benign 0.00
R4414:Spmip6 UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4415:Spmip6 UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4416:Spmip6 UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4516:Spmip6 UTSW 4 41,517,200 (GRCm38) unclassified probably benign
R5132:Spmip6 UTSW 4 41,517,178 (GRCm38) unclassified probably benign
R6132:Spmip6 UTSW 4 41,517,160 (GRCm38) start codon destroyed probably null 0.98
R6413:Spmip6 UTSW 4 41,505,135 (GRCm38) missense possibly damaging 0.86
R8519:Spmip6 UTSW 4 41,505,071 (GRCm38) missense possibly damaging 0.93
R9493:Spmip6 UTSW 4 41,508,614 (GRCm38) missense
R9594:Spmip6 UTSW 4 41,505,091 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-07