Incidental Mutation 'R7085:Rsph10b'
ID 549820
Institutional Source Beutler Lab
Gene Symbol Rsph10b
Ensembl Gene ENSMUSG00000075569
Gene Name radial spoke head 10 homolog B (Chlamydomonas)
Synonyms 4930526H21Rik, Rsph10b2
MMRRC Submission 045179-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7085 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 143869853-143922537 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143886102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 267 (T267S)
Ref Sequence ENSEMBL: ENSMUSP00000132687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166847] [ENSMUST00000169758]
AlphaFold E9PYQ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000166847
AA Change: T267S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: T267S

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
low complexity region 63 75 N/A INTRINSIC
MORN 107 128 5.9e-7 SMART
MORN 130 151 9.35e-1 SMART
MORN 153 174 1.23e0 SMART
MORN 177 198 1.84e0 SMART
MORN 202 223 3.21e1 SMART
MORN 225 246 1.67e-6 SMART
MORN 249 270 1.85e1 SMART
MORN 282 303 2.71e-6 SMART
MORN 305 326 3.53e-5 SMART
low complexity region 409 420 N/A INTRINSIC
low complexity region 629 649 N/A INTRINSIC
coiled coil region 787 841 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169758
SMART Domains Protein: ENSMUSP00000127770
Gene: ENSMUSG00000075569

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
low complexity region 63 75 N/A INTRINSIC
Blast:MORN 84 105 7e-6 BLAST
MORN 107 128 5.9e-7 SMART
MORN 130 151 9.35e-1 SMART
MORN 153 174 1.23e0 SMART
Pfam:MORN 179 191 2.3e-2 PFAM
Meta Mutation Damage Score 0.0792 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (75/79)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,100,476 (GRCm39) L283P probably damaging Het
Abhd18 T C 3: 40,871,344 (GRCm39) M132T possibly damaging Het
Afap1l1 A G 18: 61,881,885 (GRCm39) V270A possibly damaging Het
Ankrd34a A T 3: 96,505,945 (GRCm39) Q383L probably benign Het
Atp8b5 A G 4: 43,361,835 (GRCm39) D627G probably damaging Het
Atrnl1 T A 19: 57,680,289 (GRCm39) C730S probably damaging Het
Bclaf1 T C 10: 20,197,768 (GRCm39) S4P unknown Het
Blzf1 T C 1: 164,129,893 (GRCm39) D153G probably damaging Het
Btaf1 T C 19: 36,950,318 (GRCm39) V516A probably benign Het
C1qa T C 4: 136,625,091 (GRCm39) T20A probably benign Het
Cacna1e A T 1: 154,349,492 (GRCm39) probably null Het
Cfd T G 10: 79,728,326 (GRCm39) V229G probably damaging Het
Chd3 T A 11: 69,260,027 (GRCm39) H64L unknown Het
Cntn3 A G 6: 102,142,362 (GRCm39) S1002P possibly damaging Het
Cntrl T A 2: 35,055,804 (GRCm39) C1786S probably benign Het
Cpa1 A G 6: 30,643,619 (GRCm39) D355G probably benign Het
D130043K22Rik T C 13: 25,056,285 (GRCm39) V539A possibly damaging Het
Ddx1 A C 12: 13,279,356 (GRCm39) W428G probably damaging Het
Ddx49 G A 8: 70,755,133 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,364,468 (GRCm39) V4207E probably benign Het
Dock3 A G 9: 106,779,086 (GRCm39) S288P probably damaging Het
Drap1 G A 19: 5,474,815 (GRCm39) probably benign Het
Ecm2 G A 13: 49,674,378 (GRCm39) R266K probably damaging Het
Emilin2 A G 17: 71,581,100 (GRCm39) L542S probably damaging Het
Evx1 T C 6: 52,293,677 (GRCm39) Y282H possibly damaging Het
Fbxo44 T A 4: 148,243,200 (GRCm39) H20L probably damaging Het
Flot2 G T 11: 77,948,900 (GRCm39) A292S possibly damaging Het
Fry A G 5: 150,362,214 (GRCm39) I2161V probably benign Het
Gli3 T C 13: 15,889,647 (GRCm39) F587S probably damaging Het
Gm49368 A G 7: 127,726,029 (GRCm39) D1147G unknown Het
Gprc5b A T 7: 118,582,855 (GRCm39) M338K probably damaging Het
H1f11-ps A G 19: 47,159,101 (GRCm39) V158A unknown Het
Hacd3 A C 9: 64,905,525 (GRCm39) N204K probably damaging Het
Hsd3b9 T C 3: 98,357,710 (GRCm39) N101D probably damaging Het
Hydin A G 8: 111,329,962 (GRCm39) T4899A probably benign Het
Ido2 T A 8: 25,048,212 (GRCm39) R49S probably benign Het
Igsf3 C A 3: 101,362,805 (GRCm39) T942K probably benign Het
Kank4 T A 4: 98,668,183 (GRCm39) Q88L probably benign Het
Krtap16-1 T A 11: 99,877,111 (GRCm39) I98F possibly damaging Het
Laptm4a T C 12: 8,972,113 (GRCm39) V52A probably benign Het
Lmbr1 A T 5: 29,566,090 (GRCm39) probably null Het
Lnx1 G A 5: 74,788,846 (GRCm39) S31F possibly damaging Het
Mafa G T 15: 75,619,536 (GRCm39) A79E unknown Het
Me2 A T 18: 73,914,129 (GRCm39) N467K probably damaging Het
Med23 T A 10: 24,746,019 (GRCm39) L8Q probably damaging Het
Muc16 T A 9: 18,556,145 (GRCm39) I3383F unknown Het
Nbas G T 12: 13,335,259 (GRCm39) S151I probably damaging Het
Or10ag60 T A 2: 87,437,750 (GRCm39) I6N probably benign Het
Or10d5j C A 9: 39,867,808 (GRCm39) C141F probably damaging Het
Or13c25 C T 4: 52,910,961 (GRCm39) A278T probably benign Het
Or6k6 T A 1: 173,945,226 (GRCm39) I119F probably damaging Het
Or7d11 G A 9: 19,966,232 (GRCm39) H58Y probably benign Het
Piezo1 A G 8: 123,217,633 (GRCm39) V1305A Het
Plcb3 T C 19: 6,937,501 (GRCm39) E639G possibly damaging Het
Polr2a A G 11: 69,634,706 (GRCm39) L658P probably damaging Het
Prag1 A T 8: 36,571,391 (GRCm39) Q658L possibly damaging Het
Prex2 A T 1: 11,168,812 (GRCm39) R269S possibly damaging Het
Reln C A 5: 22,120,085 (GRCm39) G2856* probably null Het
Rtn4rl1 A G 11: 75,156,050 (GRCm39) I161V probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 G A 5: 124,519,783 (GRCm39) P1165L possibly damaging Het
Scn3b T C 9: 40,188,394 (GRCm39) V29A probably damaging Het
Sh3d21 T A 4: 126,056,884 (GRCm39) T13S probably benign Het
Shisal2b G T 13: 104,994,814 (GRCm39) T111K probably benign Het
Slc22a22 G A 15: 57,113,045 (GRCm39) T398I probably benign Het
Slc40a1 T A 1: 45,950,688 (GRCm39) T255S probably benign Het
Smchd1 A T 17: 71,672,214 (GRCm39) probably null Het
Soat1 A T 1: 156,259,901 (GRCm39) V480D probably damaging Het
Spata31e2 A G 1: 26,722,546 (GRCm39) L878P possibly damaging Het
Supt5 T A 7: 28,030,914 (GRCm39) E39V unknown Het
Tapbpl T C 6: 125,203,451 (GRCm39) probably null Het
Tdpoz7 T A 3: 93,979,939 (GRCm39) M5L probably benign Het
Tlr11 A T 14: 50,600,113 (GRCm39) I700F probably damaging Het
Tmc3 A T 7: 83,271,353 (GRCm39) K864M possibly damaging Het
Tns1 G A 1: 73,964,621 (GRCm39) P81S probably benign Het
Tspan2 C A 3: 102,668,270 (GRCm39) L168I probably benign Het
Unc13d C A 11: 115,955,633 (GRCm39) S885I probably benign Het
Unc45a A T 7: 79,976,082 (GRCm39) M799K possibly damaging Het
Usp34 A G 11: 23,313,097 (GRCm39) D547G Het
Vps33b A G 7: 79,925,837 (GRCm39) I95V probably benign Het
Other mutations in Rsph10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Rsph10b APN 5 143,873,905 (GRCm39) makesense probably null
K7894:Rsph10b UTSW 5 143,881,338 (GRCm39) missense probably damaging 1.00
R0136:Rsph10b UTSW 5 143,896,639 (GRCm39) missense probably benign 0.05
R0149:Rsph10b UTSW 5 143,875,727 (GRCm39) unclassified probably benign
R0326:Rsph10b UTSW 5 143,903,946 (GRCm39) missense probably damaging 1.00
R0558:Rsph10b UTSW 5 143,886,156 (GRCm39) missense probably benign 0.02
R1185:Rsph10b UTSW 5 143,903,280 (GRCm39) splice site probably benign
R1185:Rsph10b UTSW 5 143,903,280 (GRCm39) splice site probably benign
R1712:Rsph10b UTSW 5 143,873,967 (GRCm39) missense probably damaging 0.96
R1832:Rsph10b UTSW 5 143,903,997 (GRCm39) missense possibly damaging 0.79
R1909:Rsph10b UTSW 5 143,922,309 (GRCm39) missense probably benign 0.09
R2044:Rsph10b UTSW 5 143,904,068 (GRCm39) splice site probably null
R2155:Rsph10b UTSW 5 143,898,074 (GRCm39) missense probably benign 0.05
R2842:Rsph10b UTSW 5 143,916,710 (GRCm39) missense possibly damaging 0.81
R3805:Rsph10b UTSW 5 143,895,206 (GRCm39) critical splice donor site probably null
R4031:Rsph10b UTSW 5 143,922,486 (GRCm39) splice site probably null
R4792:Rsph10b UTSW 5 143,874,135 (GRCm39) missense probably damaging 1.00
R4866:Rsph10b UTSW 5 143,885,347 (GRCm39) missense probably benign 0.28
R6090:Rsph10b UTSW 5 143,913,946 (GRCm39) missense probably benign 0.00
R6252:Rsph10b UTSW 5 143,873,939 (GRCm39) missense possibly damaging 0.70
R6255:Rsph10b UTSW 5 143,896,564 (GRCm39) missense probably damaging 1.00
R6518:Rsph10b UTSW 5 143,900,691 (GRCm39) missense probably damaging 1.00
R7206:Rsph10b UTSW 5 143,898,010 (GRCm39) missense possibly damaging 0.86
R7337:Rsph10b UTSW 5 143,898,033 (GRCm39) missense probably benign 0.11
R7353:Rsph10b UTSW 5 143,904,038 (GRCm39) missense possibly damaging 0.73
R7567:Rsph10b UTSW 5 143,886,244 (GRCm39) missense possibly damaging 0.78
R8022:Rsph10b UTSW 5 143,904,050 (GRCm39) missense probably benign 0.00
R8109:Rsph10b UTSW 5 143,922,348 (GRCm39) missense probably benign 0.00
R8275:Rsph10b UTSW 5 143,903,323 (GRCm39) missense possibly damaging 0.50
R8679:Rsph10b UTSW 5 143,887,112 (GRCm39) missense possibly damaging 0.80
R8947:Rsph10b UTSW 5 143,913,952 (GRCm39) missense probably benign 0.01
R9020:Rsph10b UTSW 5 143,922,283 (GRCm39) missense probably benign 0.05
R9189:Rsph10b UTSW 5 143,896,504 (GRCm39) missense probably benign 0.05
R9319:Rsph10b UTSW 5 143,903,337 (GRCm39) missense probably benign 0.00
Z1177:Rsph10b UTSW 5 143,913,952 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGGAATGCTCTCACACATCC -3'
(R):5'- TGTGAAATGAGCAATACCACGAC -3'

Sequencing Primer
(F):5'- GGAATGCTCTCACACATCCTTCATC -3'
(R):5'- TTCCAGCATTCCCCAGCAG -3'
Posted On 2019-05-15