Incidental Mutation 'IGL03380:Rsph1'
ID420664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsph1
Ensembl Gene ENSMUSG00000024033
Gene Nameradial spoke head 1 homolog (Chlamydomonas)
SynonymsMCA, meichroacidin, Tsga2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03380
Quality Score
Status
Chromosome17
Chromosomal Location31255019-31277356 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31277236 bp
ZygosityHeterozygous
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]
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: 9,298,574 N2774D probably benign Het
Aldh1a2 T G 9: 71,255,117 Y149* probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap23 A G 11: 97,452,518 D542G probably damaging Het
Atp8a1 T C 5: 67,732,186 E582G probably benign Het
C4b A T 17: 34,740,286 V438D probably benign Het
Caps2 A G 10: 112,200,696 E345G probably benign Het
Cdk19 C T 10: 40,476,912 P308L probably benign Het
Drc3 A G 11: 60,377,905 E307G probably benign Het
Dst G A 1: 34,257,800 A1041T probably damaging Het
Elp2 T C 18: 24,622,480 V428A probably benign Het
Eml5 G T 12: 98,874,647 probably benign Het
Fam120b G A 17: 15,403,134 probably benign Het
Fpr-rs6 G A 17: 20,182,983 L39F possibly damaging Het
Fsd1 T C 17: 55,995,456 I300T probably benign Het
Hsd17b6 T C 10: 127,994,338 probably null Het
Hspa1a T C 17: 34,970,277 K550R probably benign Het
Krba1 A G 6: 48,403,453 H37R possibly damaging Het
Lama2 T C 10: 27,050,265 D2117G probably damaging Het
Map4k2 T C 19: 6,344,590 F332S possibly damaging Het
Mindy1 T C 3: 95,291,018 probably benign Het
Nhsl1 T G 10: 18,523,879 Y284* probably null Het
Olfr1463 T A 19: 13,235,001 F250L probably benign Het
Pkhd1 T A 1: 20,200,670 T3220S probably damaging Het
Pramel7 A T 2: 87,491,372 D106E probably benign Het
Psme3 T C 11: 101,320,026 probably null Het
Slc13a2 T C 11: 78,399,082 T469A probably benign Het
Slc30a9 C T 5: 67,315,711 T46I probably benign Het
Slc37a4 T G 9: 44,400,023 S204A probably benign Het
Slc8b1 T C 5: 120,519,735 F88L probably damaging Het
Smpd3 C T 8: 106,259,659 V504I probably benign Het
Tbx4 A G 11: 85,914,639 N418S probably benign Het
Tmem132c A G 5: 127,536,442 T470A probably benign Het
Tmem207 A T 16: 26,526,657 C20S probably damaging Het
Usp43 G A 11: 67,875,316 A761V possibly damaging Het
Vmn1r191 C T 13: 22,178,885 S233N probably damaging Het
Vmn2r58 T A 7: 41,864,450 E256D probably benign Het
Zc3hav1 T C 6: 38,336,558 Y184C probably damaging Het
Other mutations in Rsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Rsph1 APN 17 31258116 missense probably benign 0.30
IGL02729:Rsph1 APN 17 31273319 missense probably damaging 1.00
R1493:Rsph1 UTSW 17 31265899 missense probably damaging 1.00
R1714:Rsph1 UTSW 17 31255216 missense probably benign 0.03
R5319:Rsph1 UTSW 17 31273377 missense probably benign 0.02
R6172:Rsph1 UTSW 17 31273418 missense probably benign 0.02
R6729:Rsph1 UTSW 17 31277252 missense unknown
Posted On2016-08-02