Incidental Mutation 'R5319:Rsph1'
ID 406015
Institutional Source Beutler Lab
Gene Symbol Rsph1
Ensembl Gene ENSMUSG00000024033
Gene Name radial spoke head 1 homolog (Chlamydomonas)
Synonyms MCA, Tsga2, meichroacidin
MMRRC Submission 042902-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5319 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31473993-31496270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31492351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 72 (V72F)
Ref Sequence ENSEMBL: ENSMUSP00000024832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024832]
AlphaFold Q8VIG3
Predicted Effect probably benign
Transcript: ENSMUST00000024832
AA Change: V72F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000024832
Gene: ENSMUSG00000024033
AA Change: V72F

MORN 18 40 3.63e1 SMART
MORN 42 63 9.45e-6 SMART
MORN 65 86 1.67e-6 SMART
MORN 88 109 9.09e-8 SMART
MORN 111 132 7.79e-7 SMART
MORN 135 156 3.21e1 SMART
Pfam:MORN 159 181 8e-5 PFAM
low complexity region 227 242 N/A INTRINSIC
Meta Mutation Damage Score 0.0739 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (69/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit male infertility and azoospermia due to impaired spermatid formation, including deformation of the nucleus/head, acrosome, and flagellar mitochondrial sheath. Homozygous null females are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T C 5: 146,441,506 (GRCm39) S218P probably benign Het
Ahctf1 A C 1: 179,596,615 (GRCm39) S121A probably damaging Het
Anpep C T 7: 79,491,479 (GRCm39) R174H probably benign Het
Arhgef18 T C 8: 3,435,010 (GRCm39) probably null Het
Becn1 A G 11: 101,179,629 (GRCm39) probably benign Het
Cabin1 T C 10: 75,561,549 (GRCm39) Y984C probably damaging Het
Cacna2d4 G T 6: 119,324,213 (GRCm39) probably null Het
Ccdc14 T G 16: 34,543,542 (GRCm39) N633K probably damaging Het
Cdk5rap1 T A 2: 154,177,489 (GRCm39) T577S possibly damaging Het
Clca4b T C 3: 144,630,940 (GRCm39) R307G possibly damaging Het
Colgalt2 A G 1: 152,360,620 (GRCm39) Q219R possibly damaging Het
Cops3 A T 11: 59,718,762 (GRCm39) D177E possibly damaging Het
Cyp2d9 T C 15: 82,338,256 (GRCm39) Y127H probably damaging Het
Dnajc11 A G 4: 152,052,983 (GRCm39) T98A probably damaging Het
Dst T C 1: 34,265,058 (GRCm39) S4757P possibly damaging Het
Dvl2 C T 11: 69,898,957 (GRCm39) T448I possibly damaging Het
E230016K23Rik T G 11: 83,512,496 (GRCm39) noncoding transcript Het
Efl1 G T 7: 82,323,714 (GRCm39) D219Y probably damaging Het
Epha10 T A 4: 124,807,793 (GRCm39) probably benign Het
Fbxw22 T A 9: 109,213,015 (GRCm39) T311S possibly damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Fshb T A 2: 106,889,224 (GRCm39) I27F probably damaging Het
Gm8521 A T Y: 3,859,335 (GRCm39) noncoding transcript Het
Gpr45 T C 1: 43,071,998 (GRCm39) S214P probably damaging Het
Hgf G A 5: 16,771,860 (GRCm39) probably null Het
Hs6st1 T C 1: 36,143,259 (GRCm39) V398A probably benign Het
Ighmbp2 A G 19: 3,321,646 (GRCm39) V371A probably damaging Het
Kif18a T A 2: 109,148,370 (GRCm39) N621K probably benign Het
Lama5 A G 2: 179,822,911 (GRCm39) F2785S probably damaging Het
Lcor G A 19: 41,574,791 (GRCm39) G1182D probably damaging Het
Lrriq3 T C 3: 154,835,108 (GRCm39) I281T possibly damaging Het
Macf1 C T 4: 123,367,229 (GRCm39) A2511T probably damaging Het
Mark4 T C 7: 19,170,886 (GRCm39) D328G possibly damaging Het
Myo1c G A 11: 75,552,852 (GRCm39) E434K possibly damaging Het
Nfe2l1 A G 11: 96,710,205 (GRCm39) S387P probably damaging Het
Nr1d2 A G 14: 18,215,197 (GRCm38) S272P probably benign Het
Nsrp1 T C 11: 76,940,293 (GRCm39) H104R probably damaging Het
Odf1 T A 15: 38,219,863 (GRCm39) S64T probably benign Het
Or2aa1 A T 11: 59,480,477 (GRCm39) V146E probably damaging Het
Or4c106 T A 2: 88,683,122 (GRCm39) I276K probably damaging Het
Or7g25 C T 9: 19,160,329 (GRCm39) R122H possibly damaging Het
Pde4b C A 4: 102,278,985 (GRCm39) probably benign Het
Phox2a C T 7: 101,470,057 (GRCm39) T96M probably damaging Het
Plg A G 17: 12,622,114 (GRCm39) E478G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppp1r12c T A 7: 4,486,983 (GRCm39) T517S probably benign Het
Ptk7 C T 17: 46,883,603 (GRCm39) V821M probably damaging Het
Ptpn6 C T 6: 124,709,913 (GRCm39) V2M probably benign Het
Rgl2 T C 17: 34,152,529 (GRCm39) V380A probably benign Het
Rpl13a-ps1 A G 19: 50,018,591 (GRCm39) V195A possibly damaging Het
Sh3bp4 T C 1: 89,073,072 (GRCm39) V640A probably benign Het
Simc1 T A 13: 54,672,795 (GRCm39) V381E probably benign Het
Slc15a3 A T 19: 10,833,296 (GRCm39) T438S probably damaging Het
Slc5a4b C T 10: 75,898,233 (GRCm39) V494M probably benign Het
Sos2 C A 12: 69,674,058 (GRCm39) R335L probably benign Het
Trp53i13 A T 11: 77,399,566 (GRCm39) N254K probably damaging Het
Trpc6 A G 9: 8,609,922 (GRCm39) Y130C probably damaging Het
Trpv1 A G 11: 73,130,415 (GRCm39) I174V probably damaging Het
Tsnax T A 8: 125,742,458 (GRCm39) D62E probably damaging Het
Vezt T A 10: 93,806,193 (GRCm39) E739D probably benign Het
Vmn1r59 T A 7: 5,457,209 (GRCm39) I184F probably damaging Het
Yeats2 T C 16: 20,005,175 (GRCm39) V385A probably benign Het
Other mutations in Rsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Rsph1 APN 17 31,477,090 (GRCm39) missense probably benign 0.30
IGL02729:Rsph1 APN 17 31,492,293 (GRCm39) missense probably damaging 1.00
IGL03380:Rsph1 APN 17 31,496,210 (GRCm39) missense unknown
R1493:Rsph1 UTSW 17 31,484,873 (GRCm39) missense probably damaging 1.00
R1714:Rsph1 UTSW 17 31,474,190 (GRCm39) missense probably benign 0.03
R6172:Rsph1 UTSW 17 31,492,392 (GRCm39) missense probably benign 0.02
R6729:Rsph1 UTSW 17 31,496,226 (GRCm39) missense unknown
R8167:Rsph1 UTSW 17 31,496,260 (GRCm39) start gained probably benign
R8807:Rsph1 UTSW 17 31,484,828 (GRCm39) missense probably damaging 1.00
R8824:Rsph1 UTSW 17 31,492,350 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-22