Incidental Mutation 'R3086:Rsph4a'
ID 265638
Institutional Source Beutler Lab
Gene Symbol Rsph4a
Ensembl Gene ENSMUSG00000039552
Gene Name radial spoke head 4 homolog A (Chlamydomonas)
Synonyms Rshl3
MMRRC Submission 040575-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R3086 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 33781107-33792017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 33785198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 370 (V370L)
Ref Sequence ENSEMBL: ENSMUSP00000131647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169670]
AlphaFold Q8BYM7
Predicted Effect probably damaging
Transcript: ENSMUST00000118315
AA Change: V166L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113543
Gene: ENSMUSG00000039552
AA Change: V166L

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: V370L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: V370L

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 0.5706 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,881 (GRCm39) L48P probably damaging Het
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Bltp1 A G 3: 37,065,852 (GRCm39) D3483G possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Ces2b A T 8: 105,559,401 (GRCm39) D89V possibly damaging Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Dock10 T C 1: 80,510,074 (GRCm39) N1585D possibly damaging Het
Dock4 T C 12: 40,781,862 (GRCm39) I689T probably benign Het
Fgfr4 G T 13: 55,315,205 (GRCm39) probably benign Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Frzb T G 2: 80,248,858 (GRCm39) I199L possibly damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Helq A G 5: 100,921,858 (GRCm39) L782S probably benign Het
Kif20b T C 19: 34,907,115 (GRCm39) F128S probably damaging Het
Kifc2 T C 15: 76,551,452 (GRCm39) F725L probably benign Het
Lekr1 A G 3: 65,634,581 (GRCm39) noncoding transcript Het
Macf1 T A 4: 123,328,901 (GRCm39) M2490L probably benign Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
N4bp2 A G 5: 65,948,396 (GRCm39) Y342C probably damaging Het
Nf1 T C 11: 79,437,812 (GRCm39) C2057R probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or6c88 G A 10: 129,407,276 (GRCm39) G251S probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdha1 G C 18: 37,064,001 (GRCm39) E222Q possibly damaging Het
Prune2 A T 19: 17,098,777 (GRCm39) D1427V possibly damaging Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Sema5b T A 16: 35,443,093 (GRCm39) S33T probably benign Het
Stk-ps2 A C 1: 46,068,236 (GRCm39) noncoding transcript Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tiam2 A G 17: 3,471,857 (GRCm39) K500E probably damaging Het
Tmem131l G T 3: 83,839,046 (GRCm39) R635S probably benign Het
Tmem68 T C 4: 3,569,594 (GRCm39) E32G possibly damaging Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Zfp780b A G 7: 27,663,055 (GRCm39) I500T probably damaging Het
Zfyve26 G T 12: 79,312,457 (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
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
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'- CAGAAAGTTCTCTGCCCAATG -3'
(R):5'- GGTAACCTTACCCATGGCCTTC -3'

Sequencing Primer
(F):5'- CTCTGCCCAATGTGATGGAATCAG -3'
(R):5'- ATAGACATACTTGTTGGCACCCG -3'
Posted On 2015-02-05