Incidental Mutation 'IGL03380:Rsph1'
ID 420664
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 # IGL03380
Quality Score
Status
Chromosome 17
Chromosomal Location 31473993-31496270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31496210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 7 (E7G)
Ref Sequence ENSEMBL: ENSMUSP00000024832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024832]
AlphaFold Q8VIG3
Predicted Effect unknown
Transcript: ENSMUST00000024832
AA Change: E7G
SMART Domains Protein: ENSMUSP00000024832
Gene: ENSMUSG00000024033
AA Change: E7G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C probably damaging 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
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 2016-08-02