Incidental Mutation 'R6654:Rsph4a'
ID 526562
Institutional Source Beutler Lab
Gene Symbol Rsph4a
Ensembl Gene ENSMUSG00000039552
Gene Name radial spoke head 4 homolog A (Chlamydomonas)
Synonyms Rshl3
MMRRC Submission 044775-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R6654 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 33781107-33792017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33788988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 611 (Q611R)
Ref Sequence ENSEMBL: ENSMUSP00000131647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169670]
AlphaFold Q8BYM7
Predicted Effect probably benign
Transcript: ENSMUST00000169670
AA Change: Q611R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: Q611R

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 97% (35/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Armc6 T C 8: 70,684,025 (GRCm39) E9G probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddc A T 11: 11,830,452 (GRCm39) I64N probably damaging Het
Exd1 T A 2: 119,355,198 (GRCm39) probably null Het
Gm4847 C A 1: 166,457,956 (GRCm39) G466C probably damaging Het
Gm5431 T C 11: 48,785,427 (GRCm39) D316G possibly damaging Het
Gsta4 T C 9: 78,116,381 (GRCm39) F197L probably damaging Het
Irs2 A G 8: 11,056,486 (GRCm39) Y649H probably damaging Het
Kif16b T C 2: 142,543,197 (GRCm39) probably benign Het
Krtap12-1 T C 10: 77,556,537 (GRCm39) probably benign Het
Ktn1 G A 14: 47,927,457 (GRCm39) S537N probably damaging Het
Med12l G T 3: 59,169,713 (GRCm39) G1626W probably damaging Het
Mfng T A 15: 78,643,539 (GRCm39) T223S probably damaging Het
Msh3 T C 13: 92,481,550 (GRCm39) T321A probably benign Het
Myo7b T C 18: 32,123,322 (GRCm39) I672V possibly damaging Het
Nbas C T 12: 13,533,875 (GRCm39) Q1837* probably null Het
Nlrc4 G A 17: 74,752,523 (GRCm39) A620V possibly damaging Het
Nubpl T A 12: 52,357,516 (GRCm39) V310E probably damaging Het
Or4p21 T G 2: 88,277,016 (GRCm39) T89P possibly damaging Het
Or5aq6 A G 2: 86,923,394 (GRCm39) S116P probably benign Het
P2ry12 A G 3: 59,125,441 (GRCm39) L78P probably damaging Het
Pira1 A T 7: 3,738,928 (GRCm39) S560T probably benign Het
Pkd1l3 T G 8: 110,350,915 (GRCm39) S587A probably benign Het
Potefam1 T A 2: 111,002,229 (GRCm39) M154L unknown Het
Prkacb A G 3: 146,456,298 (GRCm39) V145A possibly damaging Het
Rpgrip1l T C 8: 91,946,833 (GRCm39) E1256G probably benign Het
Sorl1 T C 9: 41,891,941 (GRCm39) D1903G possibly damaging Het
Tmem39b A T 4: 129,580,619 (GRCm39) V291D probably damaging Het
Unc79 A C 12: 103,045,307 (GRCm39) K685Q probably damaging Het
Unc79 A T 12: 103,045,308 (GRCm39) K685I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r112 G T 17: 22,822,450 (GRCm39) S376I possibly damaging Het
Zfp850 A T 7: 27,684,640 (GRCm39) C35* probably null Het
Zfp974 A G 7: 27,625,828 (GRCm39) V14A probably 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
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'- TGTACTACATGTGCATGCTTAAAATT -3'
(R):5'- TCTCTTCCTTAAGCTATCATGGTAA -3'

Sequencing Primer
(F):5'- TGTGCATGCTTAAAATTATATTGGTC -3'
(R):5'- CTTACCTGCTGTGGGTAAATGAACC -3'
Posted On 2018-07-23