Incidental Mutation 'R4031:Rsph10b'
ID 313488
Institutional Source Beutler Lab
Gene Symbol Rsph10b
Ensembl Gene ENSMUSG00000075569
Gene Name radial spoke head 10 homolog B (Chlamydomonas)
Synonyms 4930526H21Rik, Rsph10b2
MMRRC Submission 040960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4031 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 143869853-143922537 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 143922486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031621] [ENSMUST00000166847] [ENSMUST00000212711]
AlphaFold E9PYQ0
Predicted Effect probably benign
Transcript: ENSMUST00000031621
SMART Domains Protein: ENSMUSP00000031621
Gene: ENSMUSG00000029617

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:DUF1712 25 422 3.7e-97 PFAM
Pfam:DUF1712 398 477 5.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164604
Predicted Effect probably null
Transcript: ENSMUST00000166847
SMART Domains Protein: ENSMUSP00000132687
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
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 probably null
Transcript: ENSMUST00000212711
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,244,077 (GRCm39) F1025L probably damaging Het
Acss2 C T 2: 155,399,130 (GRCm39) T477I probably damaging Het
Aplp2 G A 9: 31,069,026 (GRCm39) P601L probably benign Het
Arl2bp T C 8: 95,394,281 (GRCm39) I32T probably damaging Het
Avpi1 C A 19: 42,113,180 (GRCm39) probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Ccdc150 T A 1: 54,317,970 (GRCm39) M303K probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Copa T C 1: 171,935,942 (GRCm39) V428A probably damaging Het
Crybb3 A G 5: 113,227,735 (GRCm39) Y29H probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Disp2 T C 2: 118,622,361 (GRCm39) I1031T probably benign Het
Elf1 A C 14: 79,806,723 (GRCm39) K161Q probably damaging Het
Fndc1 A T 17: 7,988,584 (GRCm39) Y1159* probably null Het
Hspa12a T C 19: 58,789,289 (GRCm39) N449S probably benign Het
Hyal4 A G 6: 24,756,223 (GRCm39) E147G probably damaging Het
Hydin T C 8: 111,336,679 (GRCm39) I5152T probably benign Het
Ighv9-1 C T 12: 114,057,844 (GRCm39) A19T probably benign Het
Kcnt1 T G 2: 25,806,060 (GRCm39) S1216R possibly damaging Het
Kdm5d T A Y: 916,910 (GRCm39) V435E probably damaging Het
Klhl30 G A 1: 91,288,879 (GRCm39) R546H probably benign Het
Lrp1b C T 2: 40,592,860 (GRCm39) G3753D probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Macf1 A G 4: 123,275,105 (GRCm39) L6303P probably damaging Het
Mblac2 T C 13: 81,898,208 (GRCm39) S195P possibly damaging Het
Mindy3 A C 2: 12,405,894 (GRCm39) probably null Het
Neurod1 C T 2: 79,284,370 (GRCm39) D338N probably benign Het
Polr1e A T 4: 45,018,685 (GRCm39) E5V probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Ppp2r2a T C 14: 67,266,425 (GRCm39) S79G probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Rap1gds1 T C 3: 138,756,353 (GRCm39) probably benign Het
Slc26a10 A G 10: 127,013,871 (GRCm39) V297A possibly damaging Het
Slc26a5 T C 5: 22,052,189 (GRCm39) K47E probably damaging Het
Slurp1 T C 15: 74,599,336 (GRCm39) E58G probably damaging Het
Spo11 T A 2: 172,828,625 (GRCm39) probably benign Het
Tm9sf4 T C 2: 153,040,264 (GRCm39) probably benign Het
Trak1 T C 9: 121,280,736 (GRCm39) I272T probably damaging Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc79 T A 12: 103,039,018 (GRCm39) S671T possibly damaging Het
Usp43 G T 11: 67,804,659 (GRCm39) A186D probably damaging Het
Vmn2r107 G A 17: 20,595,483 (GRCm39) V679I probably benign Het
Vsig10l C T 7: 43,114,798 (GRCm39) A333V probably damaging Het
Vwa3a G A 7: 120,367,455 (GRCm39) probably null Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Wnk1 T C 6: 119,928,029 (GRCm39) T1141A probably damaging Het
Zfp236 T A 18: 82,642,590 (GRCm39) E1052V probably damaging Het
Zfp317 A T 9: 19,558,008 (GRCm39) H163L possibly damaging Het
Zfp975 G A 7: 42,312,377 (GRCm39) Q79* probably null 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
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
R7085:Rsph10b UTSW 5 143,886,102 (GRCm39) missense possibly damaging 0.82
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'- ACATCACTGTGCTCAAGGAG -3'
(R):5'- CCATGGATCTGTGTTTATGCAG -3'

Sequencing Primer
(F):5'- TCCATCCAGACTAGCAAGG -3'
(R):5'- TGACCTTGAACATGCAGCTG -3'
Posted On 2015-04-30