Incidental Mutation 'IGL02156:Rsph1'
ID 282210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsph1
Ensembl Gene ENSMUSG00000024033
Gene Name radial spoke head 1 homolog (Chlamydomonas)
Synonyms MCA, Tsga2, meichroacidin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02156
Quality Score
Status
Chromosome 17
Chromosomal Location 31473993-31496270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31477090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 282 (S282R)
Ref Sequence ENSEMBL: ENSMUSP00000024832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024832]
AlphaFold Q8VIG3
Predicted Effect probably benign
Transcript: ENSMUST00000024832
AA Change: S282R

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024832
Gene: ENSMUSG00000024033
AA Change: S282R

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,566 (GRCm39) noncoding transcript Het
Adam33 G A 2: 130,895,078 (GRCm39) probably benign Het
Akr7a5 C A 4: 139,041,580 (GRCm39) A163D probably damaging Het
Arap1 T C 7: 101,037,937 (GRCm39) probably benign Het
Asf1a C T 10: 53,482,239 (GRCm39) A17V probably benign Het
Atp1a4 A T 1: 172,085,529 (GRCm39) S25T probably benign Het
Cbln4 T C 2: 171,884,128 (GRCm39) I31V probably benign Het
Ccdc93 T G 1: 121,376,005 (GRCm39) L172R possibly damaging Het
Ceacam9 T C 7: 16,457,544 (GRCm39) probably benign Het
Crhr1 C A 11: 104,054,709 (GRCm39) N107K probably benign Het
Cyp11b1 T A 15: 74,707,646 (GRCm39) M488L probably benign Het
Dnah7a A G 1: 53,458,882 (GRCm39) V3752A probably benign Het
Dnhd1 G A 7: 105,370,951 (GRCm39) V4744M probably damaging Het
Dstyk C A 1: 132,377,664 (GRCm39) N423K probably benign Het
Exph5 T C 9: 53,286,941 (GRCm39) S1341P probably damaging Het
Fam161b T C 12: 84,401,527 (GRCm39) H409R probably benign Het
Fbxo21 A G 5: 118,132,733 (GRCm39) probably benign Het
Flt1 A G 5: 147,618,551 (GRCm39) I230T probably damaging Het
Gm9931 T C 1: 147,157,366 (GRCm39) noncoding transcript Het
Grk6 T C 13: 55,597,174 (GRCm39) F36L possibly damaging Het
Grm1 G T 10: 10,595,720 (GRCm39) A636D probably damaging Het
Hectd1 A T 12: 51,800,916 (GRCm39) probably benign Het
Hltf G A 3: 20,146,971 (GRCm39) V577I possibly damaging Het
Hrob C T 11: 102,145,865 (GRCm39) S47F probably damaging Het
Lrrc8c A G 5: 105,755,359 (GRCm39) D378G probably damaging Het
Mcoln1 C A 8: 3,562,657 (GRCm39) S6* probably null Het
Meis1 A T 11: 18,961,292 (GRCm39) S194T probably benign Het
Myo1h A C 5: 114,491,972 (GRCm39) probably benign Het
Nop9 T A 14: 55,990,740 (GRCm39) C557* probably null Het
Nrap T C 19: 56,309,432 (GRCm39) D1619G probably damaging Het
Or10d1c T A 9: 38,893,842 (GRCm39) Y166F possibly damaging Het
Or4f61 A T 2: 111,922,361 (GRCm39) H228Q probably benign Het
Or7g34 A G 9: 19,478,494 (GRCm39) M59T probably damaging Het
Pard3b T A 1: 61,807,109 (GRCm39) D41E possibly damaging Het
Parp14 G T 16: 35,678,967 (GRCm39) Q334K probably benign Het
Phf3 A T 1: 30,847,859 (GRCm39) I1228K probably damaging Het
Polr1b T A 2: 128,965,799 (GRCm39) F814I probably benign Het
Prr5 A G 15: 84,654,236 (GRCm39) I306V possibly damaging Het
Son T C 16: 91,452,992 (GRCm39) S580P possibly damaging Het
Sptbn5 G T 2: 119,878,098 (GRCm39) probably benign Het
Ssr2 T A 3: 88,491,095 (GRCm39) probably null Het
Tfpt A G 7: 3,632,039 (GRCm39) S24P probably damaging Het
Tg A G 15: 66,577,197 (GRCm39) T1507A probably benign Het
Trpm7 A G 2: 126,641,163 (GRCm39) probably benign Het
Wwox G A 8: 115,174,899 (GRCm39) probably null Het
Ythdf2 C T 4: 131,931,819 (GRCm39) R447H possibly damaging Het
Zfp385c A G 11: 100,519,845 (GRCm39) F368S probably damaging Het
Zfp488 A G 14: 33,692,357 (GRCm39) S269P possibly damaging Het
Zhx1 A C 15: 57,917,445 (GRCm39) V267G possibly damaging Het
Other mutations in Rsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5319:Rsph1 UTSW 17 31,492,351 (GRCm39) missense probably benign 0.02
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
Posted On 2015-04-16