Incidental Mutation 'IGL02729:Rsph1'
ID 305367
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 # IGL02729
Quality Score
Status
Chromosome 17
Chromosomal Location 31473993-31496270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31492293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 91 (E91V)
Ref Sequence ENSEMBL: ENSMUSP00000024832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024832]
AlphaFold Q8VIG3
Predicted Effect probably damaging
Transcript: ENSMUST00000024832
AA Change: E91V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024832
Gene: ENSMUSG00000024033
AA Change: E91V

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,499,455 (GRCm39) E1358G probably benign Het
Alpk1 T A 3: 127,474,721 (GRCm39) L427F possibly damaging Het
Atat1 T C 17: 36,209,283 (GRCm39) T326A probably benign Het
Calcr T A 6: 3,707,595 (GRCm39) H235L probably benign Het
Cdc16 A G 8: 13,829,250 (GRCm39) D512G possibly damaging Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Ddx4 C T 13: 112,787,946 (GRCm39) probably benign Het
Dennd1c T C 17: 57,373,637 (GRCm39) D612G probably benign Het
Hyal6 A C 6: 24,734,694 (GRCm39) Y209S probably damaging Het
Irf4 T C 13: 30,937,574 (GRCm39) probably null Het
Itgae T C 11: 73,009,029 (GRCm39) probably benign Het
L3mbtl4 C T 17: 68,791,738 (GRCm39) T272I probably benign Het
Lyst T C 13: 13,848,924 (GRCm39) I2037T possibly damaging Het
Lyst C A 13: 13,921,194 (GRCm39) P3380Q possibly damaging Het
Mgat4b A G 11: 50,124,136 (GRCm39) I359V probably benign Het
Mybl1 A T 1: 9,742,795 (GRCm39) D604E probably benign Het
Myh7b A T 2: 155,467,609 (GRCm39) S745C probably damaging Het
Or13c7 C A 4: 43,854,439 (GRCm39) N43K probably damaging Het
Or1ad8 T C 11: 50,897,892 (GRCm39) F31S probably damaging Het
Or6c212 T G 10: 129,559,390 (GRCm39) I8L probably benign Het
Pced1a A T 2: 130,263,823 (GRCm39) H276Q probably benign Het
Pdx1 C A 5: 147,211,424 (GRCm39) P215Q probably benign Het
Pdzd7 T C 19: 45,034,082 (GRCm39) M1V probably null Het
Prrc2b T A 2: 32,098,770 (GRCm39) M621K probably damaging Het
Ptprh T G 7: 4,583,873 (GRCm39) N240H probably damaging Het
Scn1a A G 2: 66,129,994 (GRCm39) C1274R probably damaging Het
Skic2 G A 17: 35,058,581 (GRCm39) P1179S possibly damaging Het
Skint7 C A 4: 111,839,367 (GRCm39) F220L probably benign Het
Slit1 T A 19: 41,591,773 (GRCm39) Y1283F probably damaging Het
Taf1b A G 12: 24,597,624 (GRCm39) probably benign Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Utrn A G 10: 12,596,554 (GRCm39) probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Zfp276 T C 8: 123,994,555 (GRCm39) Y541H probably damaging Het
Zfp40 C T 17: 23,397,285 (GRCm39) V3I probably damaging Het
Zfp536 T A 7: 37,193,143 (GRCm39) H766L probably damaging Het
Zfyve21 A G 12: 111,791,485 (GRCm39) I157V probably benign Het
Other mutations in Rsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Rsph1 APN 17 31,477,090 (GRCm39) missense probably benign 0.30
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