Incidental Mutation 'R7689:Rsph6a'
ID 593267
Institutional Source Beutler Lab
Gene Symbol Rsph6a
Ensembl Gene ENSMUSG00000040866
Gene Name radial spoke head 6 homolog A (Chlamydomonas)
Synonyms Rshl1, RSP4
MMRRC Submission 045753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 18788615-18808372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 18801962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 592 (I592S)
Ref Sequence ENSEMBL: ENSMUSP00000046526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035521] [ENSMUST00000076887]
AlphaFold Q8CDR2
Predicted Effect possibly damaging
Transcript: ENSMUST00000035521
AA Change: I592S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: I592S

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:Radial_spoke 191 685 2.3e-200 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076887
AA Change: I337S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: I337S

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:Radial_spoke 188 287 3e-18 PFAM
Pfam:Radial_spoke 285 433 4.6e-53 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,440 (GRCm39) F470Y probably damaging Het
Adra1a T C 14: 66,875,250 (GRCm39) L75P probably damaging Het
Agap1 T C 1: 89,762,188 (GRCm39) S560P probably damaging Het
Ahcyl T C 16: 45,974,970 (GRCm39) T136A probably benign Het
Arrdc4 T A 7: 68,391,623 (GRCm39) I215L probably damaging Het
Atad3a C T 4: 155,840,610 (GRCm39) A97T probably damaging Het
Bcas3 A T 11: 85,386,713 (GRCm39) T383S probably benign Het
C2cd5 G A 6: 142,995,951 (GRCm39) R379* probably null Het
Cacna1e G T 1: 154,274,549 (GRCm39) H2138N probably benign Het
Card14 A T 11: 119,216,328 (GRCm39) D303V possibly damaging Het
Ccdc202 T C 14: 96,119,252 (GRCm39) V3A probably benign Het
Cfhr1 T C 1: 139,475,478 (GRCm39) Y331C unknown Het
Chp1 G A 2: 119,415,146 (GRCm39) D183N probably benign Het
Cntn2 T C 1: 132,443,882 (GRCm39) T966A probably benign Het
Cpne9 T G 6: 113,266,965 (GRCm39) C133G probably damaging Het
Cspg4b A G 13: 113,515,948 (GRCm39) T121A Het
Cul7 C T 17: 46,963,747 (GRCm39) Q275* probably null Het
Cyp11b1 T C 15: 74,710,897 (GRCm39) D221G probably benign Het
Dmxl1 T A 18: 49,979,685 (GRCm39) F107I probably benign Het
Dnhd1 A G 7: 105,363,170 (GRCm39) I3911V probably benign Het
Eif1ad16 A G 12: 87,985,259 (GRCm39) Y95H probably damaging Het
Eloa T C 4: 135,736,595 (GRCm39) H551R probably benign Het
Fam171b T A 2: 83,709,732 (GRCm39) V468D probably benign Het
Fat2 A G 11: 55,200,666 (GRCm39) W803R probably damaging Het
Fbxo43 T C 15: 36,163,201 (GRCm39) D2G probably benign Het
Fbxo8 A G 8: 57,041,120 (GRCm39) T179A probably benign Het
Gdap1 A G 1: 17,231,623 (GRCm39) T323A probably damaging Het
Gm136 T C 4: 34,743,875 (GRCm39) N323S probably null Het
Gm6899 A T 11: 26,543,819 (GRCm39) T129S unknown Het
Gnb3 A T 6: 124,814,183 (GRCm39) C166S possibly damaging Het
Gpr61 A G 3: 108,057,966 (GRCm39) F232L probably damaging Het
Gpx8 T C 13: 113,179,711 (GRCm39) M197V probably benign Het
Gse1 G T 8: 121,295,217 (GRCm39) R446L unknown Het
Itch A T 2: 155,054,987 (GRCm39) T764S probably benign Het
Itch A G 2: 155,051,922 (GRCm39) K614E probably damaging Het
Itpkb T G 1: 180,241,544 (GRCm39) M738R probably damaging Het
Jph1 T A 1: 17,074,192 (GRCm39) K609* probably null Het
Kcns1 G A 2: 164,010,241 (GRCm39) R173C probably damaging Het
Larp4b C T 13: 9,186,834 (GRCm39) S54L probably damaging Het
Lonrf1 G T 8: 36,715,918 (GRCm39) S239* probably null Het
Lyst T G 13: 13,857,808 (GRCm39) probably null Het
Mccc1 T A 3: 36,015,132 (GRCm39) R663* probably null Het
Mcm3 A G 1: 20,876,997 (GRCm39) V646A probably benign Het
Mdn1 T C 4: 32,739,912 (GRCm39) L3722P probably damaging Het
Mmp27 T G 9: 7,579,002 (GRCm39) D392E probably damaging Het
Ms4a14 A G 19: 11,279,906 (GRCm39) I884T probably benign Het
Muc4 C T 16: 32,574,439 (GRCm39) T963I probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Mucl3 C A 17: 35,948,969 (GRCm39) S210I possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ndrg2 C T 14: 52,147,812 (GRCm39) A102T possibly damaging Het
Nhsl3 T C 4: 129,117,566 (GRCm39) N411S probably benign Het
Nos1 A G 5: 118,035,792 (GRCm39) D431G probably damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Otog T C 7: 45,901,480 (GRCm39) L393P probably damaging Het
Plcl1 A G 1: 55,736,627 (GRCm39) N656S probably damaging Het
Pole3 C A 4: 62,443,060 (GRCm39) V27F probably damaging Het
Prrt4 T A 6: 29,177,140 (GRCm39) I210F probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rbpms A T 8: 34,354,387 (GRCm39) S53T possibly damaging Het
Rgs7 C A 1: 174,949,296 (GRCm39) V203L probably benign Het
Riok1 A T 13: 38,229,263 (GRCm39) D150V probably damaging Het
Rrp1b T C 17: 32,274,900 (GRCm39) L335P probably benign Het
Skor1 C T 9: 63,052,661 (GRCm39) G436D probably damaging Het
Slc17a8 T C 10: 89,433,319 (GRCm39) T51A possibly damaging Het
Slc22a8 T C 19: 8,585,248 (GRCm39) S266P probably damaging Het
Socs2 A G 10: 95,250,845 (GRCm39) probably benign Het
Tas2r106 A G 6: 131,655,668 (GRCm39) I61T possibly damaging Het
Tfap2a T C 13: 40,882,051 (GRCm39) N77D probably damaging Het
Tmem236 T A 2: 14,197,076 (GRCm39) L88Q probably damaging Het
Ttc41 A G 10: 86,595,088 (GRCm39) E954G probably damaging Het
Vmn1r34 G T 6: 66,613,994 (GRCm39) S248* probably null Het
Wipf1 T C 2: 73,262,789 (GRCm39) R483G probably damaging Het
Zfhx4 A G 3: 5,476,946 (GRCm39) N3187S probably benign Het
Zfp202 C A 9: 40,121,829 (GRCm39) P309T probably benign Het
Zfp39 T C 11: 58,781,469 (GRCm39) H431R probably damaging Het
Zfp658 T A 7: 43,224,102 (GRCm39) H792Q probably benign Het
Other mutations in Rsph6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Rsph6a APN 7 18,788,793 (GRCm39) nonsense probably null
IGL01656:Rsph6a APN 7 18,788,770 (GRCm39) missense probably benign 0.00
IGL02997:Rsph6a APN 7 18,788,764 (GRCm39) missense probably benign 0.32
R0396:Rsph6a UTSW 7 18,808,031 (GRCm39) missense probably damaging 1.00
R0467:Rsph6a UTSW 7 18,791,594 (GRCm39) missense possibly damaging 0.95
R0545:Rsph6a UTSW 7 18,788,871 (GRCm39) nonsense probably null
R0603:Rsph6a UTSW 7 18,799,886 (GRCm39) missense possibly damaging 0.66
R0848:Rsph6a UTSW 7 18,791,595 (GRCm39) missense probably benign 0.07
R1943:Rsph6a UTSW 7 18,808,001 (GRCm39) missense probably damaging 1.00
R2133:Rsph6a UTSW 7 18,802,031 (GRCm39) missense probably damaging 1.00
R3713:Rsph6a UTSW 7 18,791,475 (GRCm39) missense probably damaging 0.98
R3762:Rsph6a UTSW 7 18,789,256 (GRCm39) missense probably damaging 1.00
R3826:Rsph6a UTSW 7 18,791,539 (GRCm39) missense probably damaging 1.00
R3827:Rsph6a UTSW 7 18,791,539 (GRCm39) missense probably damaging 1.00
R3828:Rsph6a UTSW 7 18,791,539 (GRCm39) missense probably damaging 1.00
R4355:Rsph6a UTSW 7 18,801,003 (GRCm39) splice site probably null
R4429:Rsph6a UTSW 7 18,807,988 (GRCm39) missense probably damaging 1.00
R4524:Rsph6a UTSW 7 18,799,970 (GRCm39) missense probably damaging 1.00
R4799:Rsph6a UTSW 7 18,799,783 (GRCm39) nonsense probably null
R4896:Rsph6a UTSW 7 18,791,665 (GRCm39) missense possibly damaging 0.67
R4906:Rsph6a UTSW 7 18,801,997 (GRCm39) missense possibly damaging 0.92
R5004:Rsph6a UTSW 7 18,791,665 (GRCm39) missense possibly damaging 0.67
R5637:Rsph6a UTSW 7 18,788,820 (GRCm39) missense probably benign
R6066:Rsph6a UTSW 7 18,799,740 (GRCm39) missense probably damaging 1.00
R7013:Rsph6a UTSW 7 18,788,820 (GRCm39) missense probably benign
R7193:Rsph6a UTSW 7 18,799,572 (GRCm39) missense probably damaging 1.00
R8170:Rsph6a UTSW 7 18,791,505 (GRCm39) missense probably damaging 1.00
R8177:Rsph6a UTSW 7 18,808,164 (GRCm39) missense unknown
R8956:Rsph6a UTSW 7 18,799,364 (GRCm39) intron probably benign
R9032:Rsph6a UTSW 7 18,799,250 (GRCm39) missense probably damaging 1.00
R9085:Rsph6a UTSW 7 18,799,250 (GRCm39) missense probably damaging 1.00
R9222:Rsph6a UTSW 7 18,801,986 (GRCm39) missense possibly damaging 0.88
R9529:Rsph6a UTSW 7 18,799,535 (GRCm39) missense probably benign 0.15
R9654:Rsph6a UTSW 7 18,799,332 (GRCm39) missense probably damaging 0.99
R9672:Rsph6a UTSW 7 18,799,842 (GRCm39) missense probably damaging 1.00
Z1177:Rsph6a UTSW 7 18,799,856 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATGGCCTTGAGACAAAGACTC -3'
(R):5'- TGGATCCTGGCAGATAAGATTTC -3'

Sequencing Primer
(F):5'- GCCTTGAGACAAAGACTCTTTCTTGG -3'
(R):5'- AAGATTTCTTTACCATAGGCGGACCC -3'
Posted On 2019-11-12