Incidental Mutation 'R9392:Rsph4a'
ID 710633
Institutional Source Beutler Lab
Gene Symbol Rsph4a
Ensembl Gene ENSMUSG00000039552
Gene Name radial spoke head 4 homolog A (Chlamydomonas)
Synonyms Rshl3
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R9392 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 33781107-33792017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33781236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 29 (V29I)
Ref Sequence ENSEMBL: ENSMUSP00000131647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169670]
AlphaFold Q8BYM7
Predicted Effect probably benign
Transcript: ENSMUST00000169670
AA Change: V29I

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: V29I

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (27/27)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34c A G 9: 89,611,787 (GRCm39) C185R possibly damaging Het
Apob T C 12: 8,057,098 (GRCm39) V1860A probably benign Het
Bahcc1 C T 11: 120,163,513 (GRCm39) R604* probably null Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdhr4 A G 9: 107,873,507 (GRCm39) D413G probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Dchs1 T A 7: 105,421,869 (GRCm39) T184S probably benign Het
Dnah11 A T 12: 118,011,055 (GRCm39) Y2044* probably null Het
Dnah11 T C 12: 118,141,290 (GRCm39) T489A probably benign Het
Dnah7b C T 1: 46,162,898 (GRCm39) Q415* probably null Het
Eml5 T C 12: 98,867,199 (GRCm39) Y30C probably damaging Het
Fat1 A G 8: 45,476,228 (GRCm39) Y1758C probably damaging Het
Fndc1 A T 17: 7,991,957 (GRCm39) S580T unknown Het
Ift57 T C 16: 49,584,174 (GRCm39) I394T possibly damaging Het
Itpr1 T A 6: 108,390,837 (GRCm39) S1579T probably benign Het
Kcnj14 A T 7: 45,467,159 (GRCm39) C396S probably benign Het
Lig3 G A 11: 82,680,666 (GRCm39) C413Y probably benign Het
Or8b38 T C 9: 37,973,195 (GRCm39) I193T probably benign Het
Pkd1l1 T C 11: 8,794,567 (GRCm39) T2315A Het
Rptn A T 3: 93,305,721 (GRCm39) H1018L probably benign Het
Shroom1 C A 11: 53,354,674 (GRCm39) P198Q possibly damaging Het
Sipa1l2 A G 8: 126,194,960 (GRCm39) V926A probably benign Het
Swap70 T C 7: 109,865,191 (GRCm39) probably null Het
Tcerg1l A G 7: 137,815,164 (GRCm39) V505A probably damaging Het
Ubr5 A G 15: 37,984,251 (GRCm39) S2299P Het
Vmn2r25 T C 6: 123,816,937 (GRCm39) I215V probably benign Het
Vmn2r65 T A 7: 84,589,718 (GRCm39) I733F possibly damaging 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
R5264:Rsph4a UTSW 10 33,785,379 (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
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'- TTTTACACAGAGACTGCCAGC -3'
(R):5'- TGCAGCTACAGGATCCTGAG -3'

Sequencing Primer
(F):5'- TTGCAACCTGTGGAGGCAG -3'
(R):5'- CAGCTACAGGATCCTGAGTAGTTTC -3'
Posted On 2022-04-18