Incidental Mutation 'R9085:Rsph6a'
ID 690527
Institutional Source Beutler Lab
Gene Symbol Rsph6a
Ensembl Gene ENSMUSG00000040866
Gene Name radial spoke head 6 homolog A (Chlamydomonas)
Synonyms Rshl1, RSP4
MMRRC Submission 068904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R9085 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18788615-18808372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18799250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 294 (N294Y)
Ref Sequence ENSEMBL: ENSMUSP00000046526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035521] [ENSMUST00000076887]
AlphaFold Q8CDR2
Predicted Effect probably damaging
Transcript: ENSMUST00000035521
AA Change: N294Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: N294Y

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:Radial_spoke 191 685 2.3e-200 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076887
SMART Domains Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l G A 10: 42,194,637 (GRCm39) T385M probably damaging Het
Arhgap29 T A 3: 121,808,249 (GRCm39) D1142E probably benign Het
Ash1l C T 3: 88,889,294 (GRCm39) A391V probably benign Het
Ash1l T C 3: 88,891,529 (GRCm39) V1136A probably benign Het
Cacna1c G T 6: 118,615,466 (GRCm39) Y1308* probably null Het
Cacna1g A T 11: 94,334,046 (GRCm39) V865E probably benign Het
Cbx2 C T 11: 118,919,914 (GRCm39) T493M possibly damaging Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dlec1 G T 9: 118,953,252 (GRCm39) C572F probably damaging Het
Dmtn A G 14: 70,853,534 (GRCm39) S92P probably damaging Het
Dnah10 T C 5: 124,839,237 (GRCm39) L1225P Het
Dnah2 G T 11: 69,320,224 (GRCm39) H3954Q possibly damaging Het
Dntt C T 19: 41,044,220 (GRCm39) R462C probably damaging Het
Emc1 T C 4: 139,094,474 (GRCm39) Y676H possibly damaging Het
Epb41l4b A T 4: 57,041,064 (GRCm39) probably null Het
Fer T A 17: 64,228,767 (GRCm39) M214K probably damaging Het
Fgf17 A G 14: 70,874,436 (GRCm39) F129L probably damaging Het
Foxn3 C T 12: 99,355,095 (GRCm39) S23N probably damaging Het
Frmd4b A C 6: 97,269,334 (GRCm39) S993A probably benign Het
Gdap1l1 T C 2: 163,280,508 (GRCm39) W15R probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
Gucy2g A T 19: 55,221,597 (GRCm39) Y301* probably null Het
Il31ra T C 13: 112,660,628 (GRCm39) S654G Het
Lmnb2 T C 10: 80,740,091 (GRCm39) D442G probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrrc37 A G 11: 103,507,565 (GRCm39) Y1468H unknown Het
Mast3 A T 8: 71,249,361 (GRCm39) W53R unknown Het
Mettl2 T C 11: 105,021,274 (GRCm39) V180A possibly damaging Het
Mospd3 C T 5: 137,598,870 (GRCm39) probably benign Het
Mrpl18 A T 17: 13,134,582 (GRCm39) V61E probably damaging Het
Mrtfb A C 16: 13,230,092 (GRCm39) T926P probably damaging Het
Muc2 T A 7: 141,287,058 (GRCm39) C154S probably damaging Het
Mypn T G 10: 62,983,894 (GRCm39) probably null Het
Nelfb C T 2: 25,094,292 (GRCm39) C357Y probably damaging Het
Nes T G 3: 87,887,069 (GRCm39) V1776G possibly damaging Het
Nin T A 12: 70,076,786 (GRCm39) R1797* probably null Het
Nxpe2 A T 9: 48,250,872 (GRCm39) I25K probably benign Het
Or4a39 A G 2: 89,236,641 (GRCm39) S261P probably damaging Het
Or5ak24 T A 2: 85,260,619 (GRCm39) T185S probably benign Het
Osbpl1a T C 18: 13,062,093 (GRCm39) H60R probably damaging Het
Papss1 C A 3: 131,324,817 (GRCm39) H425N probably damaging Het
Pde4dip T C 3: 97,601,385 (GRCm39) N2344S probably benign Het
Pde6c G A 19: 38,166,569 (GRCm39) V704I probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Pla2r1 A T 2: 60,255,791 (GRCm39) V1251D probably damaging Het
Plch2 T C 4: 155,084,976 (GRCm39) D321G probably damaging Het
Plec A G 15: 76,057,275 (GRCm39) S4221P probably damaging Het
Psg23 T G 7: 18,348,660 (GRCm39) N49T possibly damaging Het
Qrfpr A G 3: 36,276,099 (GRCm39) F97S probably damaging Het
Rab3ip G A 10: 116,775,310 (GRCm39) S16L probably damaging Het
Rbm43 A G 2: 51,824,930 (GRCm39) probably benign Het
Rpgrip1l T C 8: 92,014,303 (GRCm39) N314D possibly damaging Het
Rpn2 C T 2: 157,125,567 (GRCm39) T26I possibly damaging Het
Serpinb9h T C 13: 33,581,781 (GRCm39) Y113H probably damaging Het
Sesn1 C T 10: 41,686,835 (GRCm39) probably benign Het
Sh3d19 T C 3: 86,033,992 (GRCm39) Y782H probably damaging Het
Sh3rf1 C A 8: 61,802,493 (GRCm39) D275E probably benign Het
Siglecg T C 7: 43,061,049 (GRCm39) V374A probably benign Het
Slc6a11 A T 6: 114,202,808 (GRCm39) I301F probably damaging Het
Spock1 A T 13: 57,570,956 (GRCm39) F348I unknown Het
Sptlc2 T C 12: 87,382,839 (GRCm39) K422E probably benign Het
Tas2r115 A T 6: 132,714,327 (GRCm39) V208E probably benign Het
Tmem132a G T 19: 10,843,835 (GRCm39) Q174K probably damaging Het
Tmtc1 A T 6: 148,237,749 (GRCm39) Y338* probably null Het
Tnfaip1 G T 11: 78,420,965 (GRCm39) L32I probably damaging Het
Tox2 T C 2: 163,067,481 (GRCm39) C67R probably benign Het
Ube2o C T 11: 116,436,209 (GRCm39) G311S probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vav3 C T 3: 109,413,722 (GRCm39) A220V probably benign Het
Xaf1 A G 11: 72,197,419 (GRCm39) K132E probably benign Het
Zeb1 T C 18: 5,766,716 (GRCm39) L409S probably damaging Het
Zfp51 T A 17: 21,684,660 (GRCm39) L425H probably damaging 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
R7689:Rsph6a UTSW 7 18,801,962 (GRCm39) missense possibly damaging 0.64
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
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'- TCTGTTGACTCTGGCGAAG -3'
(R):5'- CAGGTATTTGTTGGTGCCAC -3'

Sequencing Primer
(F):5'- ACTCTGGCGAAGGAGTTGG -3'
(R):5'- TCACCGTGCGTCTCCAAGAC -3'
Posted On 2021-12-30