Incidental Mutation 'R9529:Rsph6a'
ID 719387
Institutional Source Beutler Lab
Gene Symbol Rsph6a
Ensembl Gene ENSMUSG00000040866
Gene Name radial spoke head 6 homolog A (Chlamydomonas)
Synonyms Rshl1, RSP4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R9529 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 18788615-18808372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18799535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 389 (K389E)
Ref Sequence ENSEMBL: ENSMUSP00000046526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035521] [ENSMUST00000076887]
AlphaFold Q8CDR2
Predicted Effect probably benign
Transcript: ENSMUST00000035521
AA Change: K389E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: K389E

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: 100.0%
  • 10x: 99.8%
  • 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A C 5: 113,331,682 (GRCm39) L844R possibly damaging Het
Aadacl4fm2 A G 4: 144,282,082 (GRCm39) Y237H probably benign Het
Abca8a A T 11: 109,947,167 (GRCm39) Y1036* probably null Het
Abcg3 T C 5: 105,121,973 (GRCm39) T135A probably damaging Het
Arhgef28 G A 13: 98,213,773 (GRCm39) A30V probably damaging Het
Cald1 T A 6: 34,662,947 (GRCm39) D3E probably damaging Het
Ccdc89 T A 7: 90,076,573 (GRCm39) L261Q probably damaging Het
Ceacam1 T C 7: 25,171,231 (GRCm39) D411G possibly damaging Het
Chil4 T A 3: 106,118,656 (GRCm39) N87Y probably damaging Het
Ciita T A 16: 10,328,640 (GRCm39) L308Q probably benign Het
Clptm1 T C 7: 19,371,600 (GRCm39) I278V probably benign Het
Col5a3 A T 9: 20,685,308 (GRCm39) probably null Het
Ddost T A 4: 138,038,780 (GRCm39) D336E probably benign Het
Dnah7a T C 1: 53,561,495 (GRCm39) Y2054C probably damaging Het
Erc2 T A 14: 28,197,723 (GRCm39) L1000H unknown Het
Fhip2b T C 14: 70,822,579 (GRCm39) E714G probably damaging Het
Gdpd4 T C 7: 97,610,793 (GRCm39) V71A possibly damaging Het
Hmcn1 A G 1: 150,545,175 (GRCm39) Y2811H probably damaging Het
Hmox2 C T 16: 4,582,818 (GRCm39) Q184* probably null Het
Igkv9-124 G T 6: 67,919,280 (GRCm39) T44N probably benign Het
Kmt2d G A 15: 98,737,649 (GRCm39) T5149I unknown Het
Lamb2 T A 9: 108,363,477 (GRCm39) D885E probably benign Het
Macf1 A G 4: 123,407,680 (GRCm39) S220P probably damaging Het
Muc2 A T 7: 141,287,453 (GRCm39) T211S possibly damaging Het
Mup13 A T 4: 61,184,117 (GRCm39) C15S possibly damaging Het
Myh3 T C 11: 66,979,556 (GRCm39) probably null Het
Nek10 A G 14: 14,850,833 (GRCm38) I293V probably benign Het
Or10d3 G A 9: 39,461,723 (GRCm39) T148I probably benign Het
Or2a52 T A 6: 43,144,432 (GRCm39) S147T possibly damaging Het
Or6c68 A G 10: 129,158,205 (GRCm39) T238A probably damaging Het
Pdss2 G A 10: 43,269,990 (GRCm39) V278I probably benign Het
Prex1 T C 2: 166,431,518 (GRCm39) K748R probably damaging Het
Ptprb A G 10: 116,174,519 (GRCm39) probably null Het
Ranbp17 G A 11: 33,424,826 (GRCm39) S510L unknown Het
Rp1 T A 1: 4,416,447 (GRCm39) H1555L probably benign Het
Ryk T C 9: 102,746,518 (GRCm39) V151A probably benign Het
Ryr3 T A 2: 112,465,660 (GRCm39) N4838I possibly damaging Het
Sbno1 G A 5: 124,517,413 (GRCm39) R1233* probably null Het
Scn2a A T 2: 65,594,932 (GRCm39) K1927M probably damaging Het
Sec22c A T 9: 121,513,860 (GRCm39) I259N probably damaging Het
Slc6a15 A T 10: 103,240,583 (GRCm39) D402V probably benign Het
Stk38 G A 17: 29,207,210 (GRCm39) T111I probably damaging Het
Tmem237 G A 1: 59,147,215 (GRCm39) T306I probably damaging Het
Tmprss11a T C 5: 86,576,501 (GRCm39) K117E probably benign Het
Tmprss9 A T 10: 80,730,640 (GRCm39) D722V probably damaging Het
Trpc1 T C 9: 95,592,250 (GRCm39) Y575C probably damaging Het
Ube2d2b A G 5: 107,978,438 (GRCm39) M30V probably benign Het
Usp36 A T 11: 118,159,461 (GRCm39) L661* probably null Het
Vmn2r13 G T 5: 109,304,064 (GRCm39) T789N probably damaging Het
Vmn2r5 T C 3: 64,400,018 (GRCm39) T550A probably benign Het
Xirp2 T C 2: 67,355,540 (GRCm39) S3434P possibly damaging Het
Zfp106 A G 2: 120,351,007 (GRCm39) V1571A probably damaging Het
Zfp438 A G 18: 5,213,501 (GRCm39) S486P possibly damaging Het
Zfp616 A G 11: 73,975,660 (GRCm39) H643R probably damaging Het
Zfp616 A G 11: 73,976,596 (GRCm39) K955R possibly 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
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
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'- GAATCTTCCTGGCCCTGAAG -3'
(R):5'- TGTCCAGGAAGCCAGTGAAG -3'

Sequencing Primer
(F):5'- GCAGCCCATCCACATGTG -3'
(R):5'- AAGAACTTTTTGATCTTGCGCGC -3'
Posted On 2022-07-18