Incidental Mutation 'IGL02678:Rrbp1'
ID 303244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrbp1
Ensembl Gene ENSMUSG00000027422
Gene Name ribosome binding protein 1
Synonyms mRRp1.8, mRRp0, mRRp5.4, mRRp47, 1700087N07Rik, mRRp10, mRRp16.8, ES/130, p180, mRRp41, mRRp2, mRRp15b, 5730465C04Rik, mRRp15a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL02678
Quality Score
Status
Chromosome 2
Chromosomal Location 143789315-143853183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143832107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
Ref Sequence ENSEMBL: ENSMUSP00000040560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016072] [ENSMUST00000037875]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000016072
AA Change: V20A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: V20A

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 probably damaging
Transcript: ENSMUST00000037875
AA Change: V20A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: V20A

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Rib_recp_KP_reg 33 173 2.8e-47 PFAM
low complexity region 197 215 N/A INTRINSIC
Blast:KISc 470 652 3e-13 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,035,867 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,410,177 (GRCm39) E272G probably damaging Het
Alcam G A 16: 52,094,401 (GRCm39) P416S probably damaging Het
B3galt1 A G 2: 67,949,254 (GRCm39) H323R probably benign Het
Bahcc1 G A 11: 120,163,697 (GRCm39) S665N probably damaging Het
Birc6 T C 17: 74,956,898 (GRCm39) S3631P probably damaging Het
Capn3 A C 2: 120,333,479 (GRCm39) N621T probably damaging Het
Cblif T C 19: 11,725,839 (GRCm39) M43T probably damaging Het
Ccdc162 G A 10: 41,437,151 (GRCm39) H480Y probably damaging Het
Ccr2 T A 9: 123,906,783 (GRCm39) D354E probably benign Het
Cdc42bpb T G 12: 111,292,530 (GRCm39) D335A probably damaging Het
Cdcp3 A G 7: 130,830,646 (GRCm39) Y360C probably damaging Het
Chrd G T 16: 20,552,770 (GRCm39) R89L probably damaging Het
Cops2 T C 2: 125,686,831 (GRCm39) R91G probably benign Het
Ddi1 T C 9: 6,266,106 (GRCm39) T88A probably benign Het
Dnai1 A C 4: 41,602,917 (GRCm39) E140A probably benign Het
Eif1ad17 C A 12: 87,978,946 (GRCm39) P110Q possibly damaging Het
Gcn1 A G 5: 115,751,814 (GRCm39) D2063G probably damaging Het
Gdpd4 A T 7: 97,623,584 (GRCm39) probably benign Het
Gng7 C A 10: 80,787,518 (GRCm39) L48F probably damaging Het
Htt G T 5: 35,057,246 (GRCm39) C2725F probably damaging Het
Inpp4b A G 8: 82,583,373 (GRCm39) K159R probably damaging Het
Insr G T 8: 3,223,570 (GRCm39) N854K probably benign Het
Ktn1 A T 14: 47,971,610 (GRCm39) probably null Het
Lcat A G 8: 106,668,572 (GRCm39) probably null Het
Mb21d2 T C 16: 28,646,801 (GRCm39) E391G probably benign Het
Mms19 A G 19: 41,942,915 (GRCm39) S354P possibly damaging Het
Mx2 G A 16: 97,357,320 (GRCm39) probably null Het
Mycl G A 4: 122,893,776 (GRCm39) R192Q probably damaging Het
Mzf1 A G 7: 12,786,836 (GRCm39) V78A probably benign Het
Nipbl G T 15: 8,380,594 (GRCm39) P733T possibly damaging Het
Nploc4 A G 11: 120,280,198 (GRCm39) I450T probably benign Het
Omd A T 13: 49,745,757 (GRCm39) E389V probably benign Het
Or8g30 C T 9: 39,230,217 (GRCm39) S231N probably benign Het
Oxgr1 A G 14: 120,259,580 (GRCm39) L209P probably damaging Het
Pak1 A C 7: 97,543,209 (GRCm39) T291P probably damaging Het
Pcmtd1 T A 1: 7,240,045 (GRCm39) I338K probably damaging Het
Phrf1 A G 7: 140,840,195 (GRCm39) D364G probably damaging Het
Pomk G A 8: 26,473,135 (GRCm39) P273S probably damaging Het
Psg22 A T 7: 18,453,418 (GRCm39) I38F probably damaging Het
Rbks G T 5: 31,830,757 (GRCm39) T42N probably damaging Het
Six4 T C 12: 73,159,408 (GRCm39) Y176C probably damaging Het
Slc11a2 T A 15: 100,310,081 (GRCm39) M9L possibly damaging Het
Slc16a11 T C 11: 70,106,242 (GRCm39) L112S probably damaging Het
Slc25a28 A T 19: 43,655,586 (GRCm39) probably benign Het
Slc30a3 G A 5: 31,245,676 (GRCm39) R237* probably null Het
Slco1a8 A T 6: 141,954,444 (GRCm39) Y10N probably damaging Het
Smc1b G A 15: 84,949,201 (GRCm39) R1237* probably null Het
Smtn T C 11: 3,476,353 (GRCm39) E585G possibly damaging Het
Spatc1 A T 15: 76,176,572 (GRCm39) D441V probably damaging Het
Tenm4 A G 7: 96,545,426 (GRCm39) N2481D probably damaging Het
Tnks2 A T 19: 36,823,143 (GRCm39) I137F possibly damaging Het
Trip11 T C 12: 101,849,649 (GRCm39) K1472E probably damaging Het
Ttn C A 2: 76,708,660 (GRCm39) E1846* probably null Het
Vwa8 A G 14: 79,221,640 (GRCm39) D532G probably damaging Het
Zfp268 A T 4: 145,349,067 (GRCm39) H168L probably damaging Het
Zfp977 G A 7: 42,232,419 (GRCm39) T14I probably damaging Het
Other mutations in Rrbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Rrbp1 APN 2 143,810,538 (GRCm39) missense possibly damaging 0.93
IGL01636:Rrbp1 APN 2 143,789,815 (GRCm39) unclassified probably benign
IGL01923:Rrbp1 APN 2 143,832,081 (GRCm39) missense probably damaging 1.00
IGL02513:Rrbp1 APN 2 143,830,350 (GRCm39) missense possibly damaging 0.55
IGL02548:Rrbp1 APN 2 143,791,679 (GRCm39) splice site probably benign
FR4449:Rrbp1 UTSW 2 143,809,376 (GRCm39) frame shift probably null
PIT4378001:Rrbp1 UTSW 2 143,816,460 (GRCm39) missense probably benign 0.00
R0127:Rrbp1 UTSW 2 143,831,864 (GRCm39) missense probably benign 0.21
R0611:Rrbp1 UTSW 2 143,830,436 (GRCm39) missense probably damaging 1.00
R0881:Rrbp1 UTSW 2 143,795,173 (GRCm39) missense probably benign 0.09
R1439:Rrbp1 UTSW 2 143,797,032 (GRCm39) critical splice donor site probably null
R1534:Rrbp1 UTSW 2 143,830,233 (GRCm39) missense probably damaging 1.00
R1604:Rrbp1 UTSW 2 143,831,310 (GRCm39) missense probably damaging 0.99
R1920:Rrbp1 UTSW 2 143,830,211 (GRCm39) missense probably benign 0.16
R1921:Rrbp1 UTSW 2 143,830,211 (GRCm39) missense probably benign 0.16
R2152:Rrbp1 UTSW 2 143,796,118 (GRCm39) missense possibly damaging 0.75
R2153:Rrbp1 UTSW 2 143,796,118 (GRCm39) missense possibly damaging 0.75
R2319:Rrbp1 UTSW 2 143,799,479 (GRCm39) missense probably benign 0.01
R2850:Rrbp1 UTSW 2 143,791,269 (GRCm39) missense probably benign 0.09
R2864:Rrbp1 UTSW 2 143,799,557 (GRCm39) missense probably damaging 0.99
R3433:Rrbp1 UTSW 2 143,794,200 (GRCm39) splice site probably benign
R3707:Rrbp1 UTSW 2 143,795,197 (GRCm39) missense probably benign 0.01
R3837:Rrbp1 UTSW 2 143,831,478 (GRCm39) missense probably damaging 1.00
R4073:Rrbp1 UTSW 2 143,805,030 (GRCm39) missense probably benign 0.16
R4074:Rrbp1 UTSW 2 143,805,030 (GRCm39) missense probably benign 0.16
R4076:Rrbp1 UTSW 2 143,805,030 (GRCm39) missense probably benign 0.16
R4279:Rrbp1 UTSW 2 143,805,028 (GRCm39) missense probably benign 0.16
R4583:Rrbp1 UTSW 2 143,830,671 (GRCm39) missense probably benign 0.03
R4820:Rrbp1 UTSW 2 143,806,685 (GRCm39) missense possibly damaging 0.78
R4829:Rrbp1 UTSW 2 143,831,607 (GRCm39) missense probably benign 0.18
R4836:Rrbp1 UTSW 2 143,830,337 (GRCm39) missense possibly damaging 0.75
R5589:Rrbp1 UTSW 2 143,831,886 (GRCm39) missense probably benign 0.16
R5801:Rrbp1 UTSW 2 143,831,703 (GRCm39) missense probably damaging 1.00
R5806:Rrbp1 UTSW 2 143,805,251 (GRCm39) missense probably benign 0.16
R5955:Rrbp1 UTSW 2 143,791,597 (GRCm39) missense probably benign 0.06
R6102:Rrbp1 UTSW 2 143,830,313 (GRCm39) missense probably damaging 1.00
R6368:Rrbp1 UTSW 2 143,831,475 (GRCm39) missense probably damaging 1.00
R6916:Rrbp1 UTSW 2 143,816,518 (GRCm39) missense probably benign 0.03
R7022:Rrbp1 UTSW 2 143,799,722 (GRCm39) splice site probably null
R7061:Rrbp1 UTSW 2 143,831,087 (GRCm39) missense possibly damaging 0.61
R7136:Rrbp1 UTSW 2 143,791,600 (GRCm39) missense probably benign 0.16
R7291:Rrbp1 UTSW 2 143,811,382 (GRCm39) missense probably benign 0.09
R7361:Rrbp1 UTSW 2 143,809,364 (GRCm39) missense probably benign 0.01
R7816:Rrbp1 UTSW 2 143,830,855 (GRCm39) missense probably damaging 1.00
R7877:Rrbp1 UTSW 2 143,789,815 (GRCm39) unclassified probably benign
R7968:Rrbp1 UTSW 2 143,832,081 (GRCm39) missense probably damaging 1.00
R8022:Rrbp1 UTSW 2 143,798,712 (GRCm39) missense probably benign 0.42
R8306:Rrbp1 UTSW 2 143,792,416 (GRCm39) missense probably benign 0.02
R8439:Rrbp1 UTSW 2 143,797,053 (GRCm39) missense probably benign 0.23
R8469:Rrbp1 UTSW 2 143,831,661 (GRCm39) missense probably damaging 0.98
R8485:Rrbp1 UTSW 2 143,796,933 (GRCm39) missense probably benign 0.09
R8526:Rrbp1 UTSW 2 143,816,403 (GRCm39) missense probably benign 0.33
R8534:Rrbp1 UTSW 2 143,830,095 (GRCm39) missense probably damaging 1.00
R8556:Rrbp1 UTSW 2 143,831,045 (GRCm39) missense possibly damaging 0.84
R8735:Rrbp1 UTSW 2 143,830,920 (GRCm39) nonsense probably null
R9258:Rrbp1 UTSW 2 143,853,161 (GRCm39) start gained probably benign
R9326:Rrbp1 UTSW 2 143,806,744 (GRCm39) missense probably damaging 0.99
R9419:Rrbp1 UTSW 2 143,811,436 (GRCm39) missense probably benign 0.09
R9585:Rrbp1 UTSW 2 143,799,479 (GRCm39) missense probably benign 0.01
R9660:Rrbp1 UTSW 2 143,831,178 (GRCm39) missense probably damaging 1.00
R9694:Rrbp1 UTSW 2 143,832,099 (GRCm39) missense probably damaging 1.00
Z1088:Rrbp1 UTSW 2 143,816,406 (GRCm39) missense probably damaging 1.00
Z1177:Rrbp1 UTSW 2 143,811,415 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16