Incidental Mutation 'IGL01330:Rrbp1'
ID74466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrbp1
Ensembl Gene ENSMUSG00000027422
Gene Nameribosome binding protein 1
SynonymsmRRp15b, mRRp47, mRRp41, 5730465C04Rik, 1700087N07Rik, mRRp0, mRRp15a, mRRp16.8, mRRp10, mRRp5.4, ES/130, mRRp2, mRRp1.8, p180
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.297) question?
Stock #IGL01330
Quality Score
Status
Chromosome2
Chromosomal Location143947395-144011263 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 143968618 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 847 (E847D)
Ref Sequence ENSEMBL: ENSMUSP00000016072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016072]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016072
AA Change: E847D

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: E847D

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Rib_recp_KP_reg 33 171 2.3e-40 PFAM
low complexity region 197 215 N/A INTRINSIC
internal_repeat_2 218 373 2.94e-114 PROSPERO
internal_repeat_1 219 406 7.79e-148 PROSPERO
internal_repeat_1 410 618 7.79e-148 PROSPERO
internal_repeat_2 449 692 2.94e-114 PROSPERO
coiled coil region 757 1126 N/A INTRINSIC
coiled coil region 1167 1321 N/A INTRINSIC
coiled coil region 1342 1455 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136068
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,920,951 E245G possibly damaging Het
Acap2 T C 16: 31,154,677 I43V probably damaging Het
Acot11 T C 4: 106,771,484 T36A probably benign Het
Bsn A G 9: 108,110,913 probably benign Het
Capza2 T C 6: 17,654,171 probably null Het
Cerkl A G 2: 79,368,781 I155T possibly damaging Het
Dclre1b T C 3: 103,803,126 T490A probably benign Het
Efcab6 G A 15: 84,044,300 S31L probably benign Het
Faim T A 9: 98,992,535 M67K probably damaging Het
Frem2 T G 3: 53,655,241 Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 V341A possibly damaging Het
Grhpr T C 4: 44,986,375 F142L probably benign Het
Kif14 T C 1: 136,476,374 V532A probably damaging Het
Klk1b9 T A 7: 43,978,443 L55* probably null Het
Kmt2e C A 5: 23,497,948 P1042Q possibly damaging Het
Mpped1 T A 15: 83,800,119 I114N probably damaging Het
Mtap C A 4: 89,171,223 T148K probably damaging Het
Muc16 G A 9: 18,508,507 A8347V possibly damaging Het
Nhs A T X: 161,841,453 S967T probably damaging Het
Npas3 A G 12: 54,048,819 Y344C probably damaging Het
Olfr1431 T C 19: 12,210,040 V158A possibly damaging Het
Olfr635 A T 7: 103,980,142 probably benign Het
Olfr876 T A 9: 37,804,220 F103Y probably damaging Het
Osmr A G 15: 6,842,028 Y303H probably damaging Het
Pcdhb8 A T 18: 37,357,578 I770F probably benign Het
Pde4a C T 9: 21,192,438 probably benign Het
Prkacb T G 3: 146,751,511 N79T probably damaging Het
Psd3 A C 8: 67,697,178 Y1222D probably damaging Het
Sbno1 A T 5: 124,391,979 D912E probably damaging Het
Sgsm3 T A 15: 81,010,852 probably benign Het
Shcbp1 T C 8: 4,736,372 T577A probably benign Het
Siglec1 A T 2: 131,083,536 V335D probably damaging Het
Siglec1 A T 2: 131,075,005 L1110* probably null Het
Slc4a11 A G 2: 130,687,682 I335T probably benign Het
Smchd1 A C 17: 71,436,788 S461A probably benign Het
Spata16 C T 3: 26,914,715 P415S probably damaging Het
Tdrd12 G A 7: 35,505,034 S217L possibly damaging Het
Tmem156 C T 5: 65,080,182 R45H probably benign Het
Vmn2r90 T C 17: 17,733,280 S569P probably benign Het
Vps13c T A 9: 67,964,108 V3220E probably damaging Het
Wdr59 T C 8: 111,481,933 N439S possibly damaging Het
Zfp568 A G 7: 30,022,277 M215V probably benign Het
Zgrf1 T A 3: 127,584,007 V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 D255G possibly damaging Het
Other mutations in Rrbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Rrbp1 APN 2 143947895 unclassified probably benign
IGL01923:Rrbp1 APN 2 143990161 missense probably damaging 1.00
IGL02513:Rrbp1 APN 2 143988430 missense possibly damaging 0.55
IGL02548:Rrbp1 APN 2 143949759 splice site probably benign
IGL02678:Rrbp1 APN 2 143990187 missense probably damaging 0.98
FR4449:Rrbp1 UTSW 2 143967456 frame shift probably null
PIT4378001:Rrbp1 UTSW 2 143974540 missense probably benign 0.00
R0127:Rrbp1 UTSW 2 143989944 missense probably benign 0.21
R0611:Rrbp1 UTSW 2 143988516 missense probably damaging 1.00
R0881:Rrbp1 UTSW 2 143953253 missense probably benign 0.09
R1439:Rrbp1 UTSW 2 143955112 critical splice donor site probably null
R1534:Rrbp1 UTSW 2 143988313 missense probably damaging 1.00
R1604:Rrbp1 UTSW 2 143989390 missense probably damaging 0.99
R1920:Rrbp1 UTSW 2 143988291 missense probably benign 0.16
R1921:Rrbp1 UTSW 2 143988291 missense probably benign 0.16
R2152:Rrbp1 UTSW 2 143954198 missense possibly damaging 0.75
R2153:Rrbp1 UTSW 2 143954198 missense possibly damaging 0.75
R2319:Rrbp1 UTSW 2 143957559 missense probably benign 0.01
R2850:Rrbp1 UTSW 2 143949349 missense probably benign 0.09
R2864:Rrbp1 UTSW 2 143957637 missense probably damaging 0.99
R3433:Rrbp1 UTSW 2 143952280 splice site probably benign
R3707:Rrbp1 UTSW 2 143953277 missense probably benign 0.01
R3837:Rrbp1 UTSW 2 143989558 missense probably damaging 1.00
R4073:Rrbp1 UTSW 2 143963110 missense probably benign 0.16
R4074:Rrbp1 UTSW 2 143963110 missense probably benign 0.16
R4076:Rrbp1 UTSW 2 143963110 missense probably benign 0.16
R4279:Rrbp1 UTSW 2 143963108 missense probably benign 0.16
R4583:Rrbp1 UTSW 2 143988751 missense probably benign 0.03
R4820:Rrbp1 UTSW 2 143964765 missense possibly damaging 0.78
R4829:Rrbp1 UTSW 2 143989687 missense probably benign 0.18
R4836:Rrbp1 UTSW 2 143988417 missense possibly damaging 0.75
R5589:Rrbp1 UTSW 2 143989966 missense probably benign 0.16
R5801:Rrbp1 UTSW 2 143989783 missense probably damaging 1.00
R5806:Rrbp1 UTSW 2 143963331 missense probably benign 0.16
R5955:Rrbp1 UTSW 2 143949677 missense probably benign 0.06
R6102:Rrbp1 UTSW 2 143988393 missense probably damaging 1.00
R6368:Rrbp1 UTSW 2 143989555 missense probably damaging 1.00
R6916:Rrbp1 UTSW 2 143974598 missense probably benign 0.03
R7022:Rrbp1 UTSW 2 143957802 intron probably null
R7061:Rrbp1 UTSW 2 143989167 missense possibly damaging 0.61
R7136:Rrbp1 UTSW 2 143949680 missense probably benign 0.16
R7291:Rrbp1 UTSW 2 143969462 missense probably benign 0.09
Z1088:Rrbp1 UTSW 2 143974486 missense probably damaging 1.00
Posted On2013-10-07