Incidental Mutation 'R5615:Rsph4a'
ID 438200
Institutional Source Beutler Lab
Gene Symbol Rsph4a
Ensembl Gene ENSMUSG00000039552
Gene Name radial spoke head 4 homolog A (Chlamydomonas)
Synonyms Rshl3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 33781107-33792017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33785324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 412 (A412T)
Ref Sequence ENSEMBL: ENSMUSP00000131647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169670]
AlphaFold Q8BYM7
Predicted Effect probably benign
Transcript: ENSMUST00000118315
AA Change: A208T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113543
Gene: ENSMUSG00000039552
AA Change: A208T

DomainStartEndE-ValueType
Pfam:Radial_spoke 2 494 2.4e-193 PFAM
low complexity region 498 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169670
AA Change: A412T

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: A412T

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N 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
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'- CCAATCCAAAGATGTCGCTTC -3'
(R):5'- TGCTCTCATTTCCTGGGAAGG -3'

Sequencing Primer
(F):5'- ATCCAAAGATGTCGCTTCTGGGG -3'
(R):5'- AGGGTGGGTAGCTTATGACAGC -3'
Posted On 2016-10-26