Incidental Mutation 'R5264:Rsph4a'
ID 401608
Institutional Source Beutler Lab
Gene Symbol Rsph4a
Ensembl Gene ENSMUSG00000039552
Gene Name radial spoke head 4 homolog A (Chlamydomonas)
Synonyms Rshl3
MMRRC Submission 042832-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R5264 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 33781107-33792017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33785379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 430 (Y430C)
Ref Sequence ENSEMBL: ENSMUSP00000131647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169670]
AlphaFold Q8BYM7
Predicted Effect probably damaging
Transcript: ENSMUST00000118315
AA Change: Y226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113543
Gene: ENSMUSG00000039552
AA Change: Y226C

DomainStartEndE-ValueType
Pfam:Radial_spoke 2 494 2.4e-193 PFAM
low complexity region 498 512 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169670
AA Change: Y430C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: Y430C

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
Pfam:Radial_spoke 209 695 2.7e-205 PFAM
low complexity region 702 716 N/A INTRINSIC
Meta Mutation Damage Score 0.9148 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ckap2l A T 2: 129,127,299 (GRCm39) M293K probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Dnai7 A G 6: 145,127,502 (GRCm39) V469A probably benign Het
Efcab7 G A 4: 99,735,372 (GRCm39) R132H probably benign Het
Elovl4 T C 9: 83,662,817 (GRCm39) T239A probably benign Het
Fank1 A G 7: 133,481,621 (GRCm39) D240G probably damaging Het
Fbln5 T A 12: 101,723,703 (GRCm39) M346L possibly damaging Het
Fbxl21 T C 13: 56,680,136 (GRCm39) F174L probably benign Het
Gns A G 10: 121,216,090 (GRCm39) D279G probably benign Het
Hmcn1 A G 1: 150,555,265 (GRCm39) V2502A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Large2 A G 2: 92,205,088 (GRCm39) probably benign Het
Lrrc8b A T 5: 105,628,118 (GRCm39) I155F probably damaging Het
Morc2b T C 17: 33,357,353 (GRCm39) I140V probably benign Het
Mrgprb5 G A 7: 47,817,796 (GRCm39) S313L probably benign Het
Nectin4 A T 1: 171,211,273 (GRCm39) T266S probably benign Het
Nsd1 C T 13: 55,395,159 (GRCm39) A1023V possibly damaging Het
Or51a39 T C 7: 102,363,558 (GRCm39) T21A probably benign Het
Paqr8 A G 1: 21,005,332 (GRCm39) H162R possibly damaging Het
Pclo G A 5: 14,726,937 (GRCm39) probably benign Het
Phactr4 T C 4: 132,098,293 (GRCm39) D325G probably damaging Het
Plcg2 A T 8: 118,361,532 (GRCm39) E1255V possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Polr3b A T 10: 84,503,280 (GRCm39) Q399L probably benign Het
Ppp1r35 G A 5: 137,778,286 (GRCm39) probably benign Het
Psd3 A T 8: 68,166,377 (GRCm39) D919E probably benign Het
Ptgs2 A G 1: 149,978,481 (GRCm39) T198A possibly damaging Het
Ptpn14 T C 1: 189,564,997 (GRCm39) probably null Het
Ptprk A G 10: 28,461,582 (GRCm39) Y39C probably damaging Het
R3hdm4 A G 10: 79,749,175 (GRCm39) Y75H probably benign Het
Samd12 C T 15: 53,723,669 (GRCm39) C8Y probably damaging Het
Sema3e A C 5: 14,276,662 (GRCm39) L314F probably damaging Het
Sis A G 3: 72,857,089 (GRCm39) F401L probably damaging Het
Smoc1 T A 12: 81,151,474 (GRCm39) S64T probably damaging Het
Socs5 T A 17: 87,441,769 (GRCm39) H236Q probably damaging Het
Spaca1 C A 4: 34,049,863 (GRCm39) R45L possibly damaging Het
Spag6 A G 2: 18,750,324 (GRCm39) K457E probably benign Het
Stat2 T A 10: 128,116,934 (GRCm39) probably null Het
Tcp11l2 A G 10: 84,449,524 (GRCm39) I496M probably damaging Het
Ttll4 A G 1: 74,725,535 (GRCm39) I648V possibly damaging Het
Vmn2r67 T C 7: 84,801,453 (GRCm39) Y161C probably damaging Het
Wnt5b A T 6: 119,410,813 (GRCm39) V171E probably damaging Het
Zfp236 T C 18: 82,648,219 (GRCm39) K933E probably damaging Het
Zfp236 T C 18: 82,676,198 (GRCm39) E373G probably damaging Het
Zfp617 A G 8: 72,686,885 (GRCm39) Y405C probably damaging Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Rsph4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Rsph4a APN 10 33,790,339 (GRCm39) missense probably damaging 1.00
IGL00536:Rsph4a APN 10 33,787,652 (GRCm39) splice site probably benign
IGL00702:Rsph4a APN 10 33,789,068 (GRCm39) missense probably damaging 0.99
IGL02313:Rsph4a APN 10 33,781,521 (GRCm39) missense possibly damaging 0.56
IGL02556:Rsph4a APN 10 33,781,148 (GRCm39) utr 5 prime probably benign
PIT4519001:Rsph4a UTSW 10 33,785,126 (GRCm39) missense probably benign 0.09
R0006:Rsph4a UTSW 10 33,785,144 (GRCm39) missense probably damaging 1.00
R0006:Rsph4a UTSW 10 33,785,144 (GRCm39) missense probably damaging 1.00
R0088:Rsph4a UTSW 10 33,785,349 (GRCm39) missense probably benign 0.15
R0513:Rsph4a UTSW 10 33,788,987 (GRCm39) nonsense probably null
R1559:Rsph4a UTSW 10 33,785,727 (GRCm39) missense probably damaging 0.99
R1589:Rsph4a UTSW 10 33,781,525 (GRCm39) missense probably benign 0.01
R1783:Rsph4a UTSW 10 33,787,632 (GRCm39) missense probably damaging 1.00
R1914:Rsph4a UTSW 10 33,789,068 (GRCm39) missense probably damaging 0.99
R2046:Rsph4a UTSW 10 33,790,539 (GRCm39) unclassified probably benign
R2280:Rsph4a UTSW 10 33,787,595 (GRCm39) missense probably benign 0.00
R2496:Rsph4a UTSW 10 33,784,094 (GRCm39) missense possibly damaging 0.87
R3084:Rsph4a UTSW 10 33,785,198 (GRCm39) missense probably damaging 1.00
R3086:Rsph4a UTSW 10 33,785,198 (GRCm39) missense probably damaging 1.00
R4519:Rsph4a UTSW 10 33,787,623 (GRCm39) nonsense probably null
R4965:Rsph4a UTSW 10 33,785,236 (GRCm39) missense probably damaging 1.00
R5077:Rsph4a UTSW 10 33,784,275 (GRCm39) missense probably damaging 1.00
R5359:Rsph4a UTSW 10 33,784,232 (GRCm39) missense probably benign 0.08
R5464:Rsph4a UTSW 10 33,785,337 (GRCm39) missense possibly damaging 0.64
R5615:Rsph4a UTSW 10 33,785,324 (GRCm39) missense probably benign 0.32
R5751:Rsph4a UTSW 10 33,781,789 (GRCm39) missense probably damaging 0.99
R5763:Rsph4a UTSW 10 33,781,684 (GRCm39) missense probably damaging 0.98
R5832:Rsph4a UTSW 10 33,785,498 (GRCm39) missense probably benign 0.01
R6243:Rsph4a UTSW 10 33,785,139 (GRCm39) missense probably damaging 1.00
R6654:Rsph4a UTSW 10 33,788,988 (GRCm39) missense probably benign
R6918:Rsph4a UTSW 10 33,781,272 (GRCm39) missense probably benign 0.00
R7081:Rsph4a UTSW 10 33,785,189 (GRCm39) missense probably damaging 0.97
R7453:Rsph4a UTSW 10 33,785,289 (GRCm39) missense probably benign 0.00
R7611:Rsph4a UTSW 10 33,781,473 (GRCm39) missense probably benign 0.15
R7670:Rsph4a UTSW 10 33,785,029 (GRCm39) missense probably damaging 1.00
R8017:Rsph4a UTSW 10 33,785,455 (GRCm39) missense probably damaging 1.00
R8495:Rsph4a UTSW 10 33,781,488 (GRCm39) missense probably benign 0.00
R8806:Rsph4a UTSW 10 33,785,445 (GRCm39) missense probably damaging 0.99
R8884:Rsph4a UTSW 10 33,781,840 (GRCm39) splice site probably benign
R9171:Rsph4a UTSW 10 33,785,438 (GRCm39) nonsense probably null
R9269:Rsph4a UTSW 10 33,785,394 (GRCm39) missense probably benign
R9392:Rsph4a UTSW 10 33,781,236 (GRCm39) missense probably benign 0.24
R9483:Rsph4a UTSW 10 33,790,418 (GRCm39) missense probably damaging 1.00
X0057:Rsph4a UTSW 10 33,781,723 (GRCm39) missense possibly damaging 0.58
X0066:Rsph4a UTSW 10 33,789,005 (GRCm39) missense possibly damaging 0.94
Z1176:Rsph4a UTSW 10 33,787,639 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGATCTTGGGTCTGGAAATGAAC -3'
(R):5'- CTGAAATGCGGGCAATTTGTG -3'

Sequencing Primer
(F):5'- GGTCTGGAAATGAACTATATTGTTGC -3'
(R):5'- ATTTGTGCTCTTAAGTAATTGCTCTC -3'
Posted On 2016-07-06