Incidental Mutation 'IGL00419:Rsph10b'
ID332374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsph10b
Ensembl Gene ENSMUSG00000075569
Gene Nameradial spoke head 10 homolog B (Chlamydomonas)
SynonymsRsph10b2, 4930526H21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL00419
Quality Score
Status
Chromosome5
Chromosomal Location143933035-143985719 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 143937087 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 166 (*166R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000148011] [ENSMUST00000166847] [ENSMUST00000169758]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141942
Predicted Effect probably benign
Transcript: ENSMUST00000148011
SMART Domains Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109

DomainStartEndE-ValueType
HATPase_c 30 165 3.77e-1 SMART
DNA_mis_repair 227 364 4.76e-41 SMART
MutL_C 675 819 1.59e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166847
AA Change: V2A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: V2A

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 noncoding transcript
Transcript: ENSMUST00000167009
Predicted Effect possibly damaging
Transcript: ENSMUST00000169758
AA Change: V2A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127770
Gene: ENSMUSG00000075569
AA Change: V2A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170083
Predicted Effect probably null
Transcript: ENSMUST00000172367
AA Change: *166R
SMART Domains Protein: ENSMUSP00000132104
Gene: ENSMUSG00000104633
AA Change: *166R

DomainStartEndE-ValueType
MutL_C 5 139 1.78e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a4 A C 1: 172,239,806 N586K probably damaging Het
AU040320 T C 4: 126,792,234 M201T probably benign Het
Bcap29 A T 12: 31,630,872 F38L probably benign Het
Bdkrb2 A G 12: 105,588,303 probably benign Het
Ceacam5 G T 7: 17,759,556 E835* probably null Het
Cenpp T C 13: 49,647,656 probably null Het
Clca2 A G 3: 145,098,813 V51A probably damaging Het
Dmxl2 T C 9: 54,406,667 N1660D probably damaging Het
Exosc9 T C 3: 36,553,139 probably benign Het
Ezh1 T C 11: 101,194,506 probably null Het
Fbxo24 G A 5: 137,624,301 R68C probably damaging Het
Gbp9 T C 5: 105,094,077 I205V probably benign Het
Gpc5 A G 14: 115,370,024 Y346C probably damaging Het
Hectd1 A G 12: 51,764,035 Y1706H probably damaging Het
Igsf9b A G 9: 27,319,655 Y318C probably damaging Het
Map1a A T 2: 121,299,027 Q182L probably damaging Het
Rab11fip3 A T 17: 25,991,809 probably benign Het
Rbm20 G A 19: 53,843,264 R643Q probably damaging Het
Ros1 A T 10: 52,091,054 C1707S probably damaging Het
Rpgrip1l G T 8: 91,263,574 R747S possibly damaging Het
Sft2d1 G A 17: 8,320,605 C80Y possibly damaging Het
Zdhhc14 T C 17: 5,752,684 probably benign Het
Zfp300 T A X: 21,082,292 Y411F probably damaging Het
Zfp92 T C X: 73,420,158 probably benign Het
Zhx1 A G 15: 58,053,315 F512L probably damaging Het
Other mutations in Rsph10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
K7894:Rsph10b UTSW 5 143944520 missense probably damaging 1.00
R0136:Rsph10b UTSW 5 143959821 missense probably benign 0.05
R0149:Rsph10b UTSW 5 143938909 unclassified probably benign
R0326:Rsph10b UTSW 5 143967128 missense probably damaging 1.00
R0558:Rsph10b UTSW 5 143949338 missense probably benign 0.02
R1185:Rsph10b UTSW 5 143966462 splice site probably benign
R1185:Rsph10b UTSW 5 143966462 splice site probably benign
R1712:Rsph10b UTSW 5 143937149 missense probably damaging 0.96
R1832:Rsph10b UTSW 5 143967179 missense possibly damaging 0.79
R1909:Rsph10b UTSW 5 143985491 missense probably benign 0.09
R2044:Rsph10b UTSW 5 143967250 splice site probably null
R2155:Rsph10b UTSW 5 143961256 missense probably benign 0.05
R2842:Rsph10b UTSW 5 143979892 missense possibly damaging 0.81
R3805:Rsph10b UTSW 5 143958388 critical splice donor site probably null
R4031:Rsph10b UTSW 5 143985668 splice site probably null
R4792:Rsph10b UTSW 5 143937317 missense probably damaging 1.00
R4866:Rsph10b UTSW 5 143948529 missense probably benign 0.28
R6090:Rsph10b UTSW 5 143977128 missense probably benign 0.00
R6252:Rsph10b UTSW 5 143937121 missense possibly damaging 0.70
R6255:Rsph10b UTSW 5 143959746 missense probably damaging 1.00
R6518:Rsph10b UTSW 5 143963873 missense probably damaging 1.00
R7085:Rsph10b UTSW 5 143949284 missense possibly damaging 0.82
R7206:Rsph10b UTSW 5 143961192 missense possibly damaging 0.86
R7337:Rsph10b UTSW 5 143961215 missense probably benign 0.11
R7353:Rsph10b UTSW 5 143967220 missense possibly damaging 0.73
R7567:Rsph10b UTSW 5 143949426 missense possibly damaging 0.78
R8022:Rsph10b UTSW 5 143967232 missense probably benign 0.00
R8109:Rsph10b UTSW 5 143985530 missense probably benign 0.00
R8275:Rsph10b UTSW 5 143966505 missense possibly damaging 0.50
Z1177:Rsph10b UTSW 5 143977134 missense probably benign 0.01
Posted On2015-08-05