Incidental Mutation 'R5983:Rsph9'
ID 481535
Institutional Source Beutler Lab
Gene Symbol Rsph9
Ensembl Gene ENSMUSG00000023966
Gene Name radial spoke head 9 homolog (Chlamydomonas)
Synonyms 1700027N10Rik
MMRRC Submission 044164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5983 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46432961-46455142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46440406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 230 (M230T)
Ref Sequence ENSEMBL: ENSMUSP00000024762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024762] [ENSMUST00000024763] [ENSMUST00000123646]
AlphaFold Q9D9V4
Predicted Effect probably benign
Transcript: ENSMUST00000024762
AA Change: M230T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024762
Gene: ENSMUSG00000023966
AA Change: M230T

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Radial_spoke 203 276 1.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024763
SMART Domains Protein: ENSMUSP00000024763
Gene: ENSMUSG00000023967

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 75 128 6.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123646
SMART Domains Protein: ENSMUSP00000122433
Gene: ENSMUSG00000023967

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 75 128 4.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147672
Predicted Effect probably benign
Transcript: ENSMUST00000148581
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,807,942 (GRCm39) M861K probably benign Het
Abhd18 T A 3: 40,864,979 (GRCm39) F73L probably damaging Het
Abraxas1 A G 5: 100,955,777 (GRCm39) V237A probably benign Het
Adam26b T C 8: 43,974,378 (GRCm39) Y208C probably damaging Het
Aire A G 10: 77,878,903 (GRCm39) L48P probably damaging Het
Bach2 A T 4: 32,563,324 (GRCm39) E597V probably damaging Het
Ccdc170 A T 10: 4,470,851 (GRCm39) R232* probably null Het
Cfap100 A C 6: 90,396,373 (GRCm39) probably benign Het
Dppa2 G A 16: 48,136,204 (GRCm39) M185I probably benign Het
Ecsit C T 9: 21,989,443 (GRCm39) probably null Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Grm8 T C 6: 27,760,220 (GRCm39) K370R probably benign Het
Ide C T 19: 37,249,549 (GRCm39) probably null Het
Katnip T A 7: 125,449,545 (GRCm39) W870R probably damaging Het
Morn3 T C 5: 123,175,851 (GRCm39) D179G possibly damaging Het
Nkapd1 A G 9: 50,519,142 (GRCm39) S157P probably damaging Het
Nvl A T 1: 180,964,471 (GRCm39) D102E probably benign Het
Or5an10 T A 19: 12,276,467 (GRCm39) I10F probably benign Het
Rbm5 G A 9: 107,622,141 (GRCm39) P611L probably damaging Het
Sacs G A 14: 61,442,648 (GRCm39) V1565M probably damaging Het
Serpina3n T C 12: 104,375,288 (GRCm39) L120P probably damaging Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Tmem147 T C 7: 30,427,484 (GRCm39) D111G probably damaging Het
Ttn A G 2: 76,572,725 (GRCm39) V17729A possibly damaging Het
Vmn2r104 G A 17: 20,261,970 (GRCm39) P387S probably damaging Het
Zfp940 C T 7: 29,544,477 (GRCm39) V477M possibly damaging Het
Zw10 A G 9: 48,988,745 (GRCm39) probably null Het
Other mutations in Rsph9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0547:Rsph9 UTSW 17 46,455,050 (GRCm39) missense possibly damaging 0.86
R2040:Rsph9 UTSW 17 46,445,910 (GRCm39) missense probably damaging 1.00
R5238:Rsph9 UTSW 17 46,446,008 (GRCm39) nonsense probably null
R5602:Rsph9 UTSW 17 46,445,909 (GRCm39) missense probably damaging 1.00
R7015:Rsph9 UTSW 17 46,440,382 (GRCm39) missense probably benign 0.23
R7661:Rsph9 UTSW 17 46,446,013 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGAAAGAGTGTTTCGACCCC -3'
(R):5'- CATCGATCTTAGGGCAGAGG -3'

Sequencing Primer
(F):5'- GAGTGTTTCGACCCCACATAAATATC -3'
(R):5'- CCAAGGTCAGTGATTTACCCTGAAG -3'
Posted On 2017-06-26