Incidental Mutation 'R1943:Rsph6a'
ID 216374
Institutional Source Beutler Lab
Gene Symbol Rsph6a
Ensembl Gene ENSMUSG00000040866
Gene Name radial spoke head 6 homolog A (Chlamydomonas)
Synonyms Rshl1, RSP4
MMRRC Submission 039961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R1943 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 18788615-18808372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 18808001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 388 (Y388S)
Ref Sequence ENSEMBL: ENSMUSP00000076153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032570] [ENSMUST00000035521] [ENSMUST00000076887] [ENSMUST00000108479]
AlphaFold Q8CDR2
Predicted Effect probably benign
Transcript: ENSMUST00000032570
SMART Domains Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 44 92 N/A INTRINSIC
WD40 203 239 4.11e1 SMART
WD40 270 309 3.5e-4 SMART
WD40 312 351 2.01e-4 SMART
WD40 354 436 8.36e-2 SMART
low complexity region 450 471 N/A INTRINSIC
low complexity region 477 503 N/A INTRINSIC
Blast:WD40 509 620 1e-43 BLAST
low complexity region 653 662 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000035521
AA Change: Y643S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: Y643S

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: Y388S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: Y388S

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
Predicted Effect probably benign
Transcript: ENSMUST00000108479
SMART Domains Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 44 92 N/A INTRINSIC
WD40 203 239 4.11e1 SMART
WD40 270 309 3.5e-4 SMART
WD40 312 351 2.01e-4 SMART
WD40 354 436 8.36e-2 SMART
low complexity region 450 471 N/A INTRINSIC
low complexity region 477 503 N/A INTRINSIC
Blast:WD40 509 620 1e-43 BLAST
low complexity region 628 637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146429
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam23 T C 1: 63,516,916 (GRCm39) probably null Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Cpz C T 5: 35,669,772 (GRCm39) E302K probably damaging Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc3 A G 18: 32,379,663 (GRCm39) Y290C probably damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Il1rn T C 2: 24,238,611 (GRCm39) S82P possibly damaging Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mknk1 T C 4: 115,720,223 (GRCm39) V83A probably damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Snx15 A G 19: 6,178,096 (GRCm39) Y28H probably damaging Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp512b T C 2: 181,230,208 (GRCm39) H516R probably damaging Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E 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
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
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'- AACTTTTGTGGGAGGGACAG -3'
(R):5'- ATCTGTTGCTACGAATAAGGGG -3'

Sequencing Primer
(F):5'- TTTGTGGGAGGGACAGATGGAC -3'
(R):5'- AAGGAGCTTGGGGCCTCAG -3'
Posted On 2014-08-01