Incidental Mutation 'IGL01647:Rbm6'
ID102710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm6
Ensembl Gene ENSMUSG00000032582
Gene NameRNA binding motif protein 6
Synonymsg16, NY-LU-12, Def-3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.917) question?
Stock #IGL01647
Quality Score
Status
Chromosome9
Chromosomal Location107773559-107873237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107852882 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 189 (E189G)
Ref Sequence ENSEMBL: ENSMUSP00000138400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000183035] [ENSMUST00000195866] [ENSMUST00000195883]
Predicted Effect probably benign
Transcript: ENSMUST00000035201
AA Change: E57G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: E57G

DomainStartEndE-ValueType
internal_repeat_1 4 42 2.66e-5 PROSPERO
low complexity region 61 87 N/A INTRINSIC
internal_repeat_1 106 157 2.66e-5 PROSPERO
RRM 325 400 2.67e-2 SMART
Blast:ZnF_RBZ 406 430 2e-11 BLAST
RRM 522 601 1.32e-1 SMART
low complexity region 748 765 N/A INTRINSIC
ZnF_C2H2 818 843 4.34e0 SMART
low complexity region 864 876 N/A INTRINSIC
G_patch 912 958 7.87e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182301
Predicted Effect probably benign
Transcript: ENSMUST00000183032
AA Change: E189G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: E189G

DomainStartEndE-ValueType
internal_repeat_1 43 119 2.42e-5 PROSPERO
internal_repeat_2 46 164 3.18e-5 PROSPERO
internal_repeat_1 121 189 2.42e-5 PROSPERO
low complexity region 193 219 N/A INTRINSIC
internal_repeat_2 224 319 3.18e-5 PROSPERO
RRM 457 532 2.67e-2 SMART
Blast:ZnF_RBZ 538 562 2e-9 BLAST
RRM 654 733 1.32e-1 SMART
low complexity region 880 897 N/A INTRINSIC
ZnF_C2H2 950 975 4.34e0 SMART
low complexity region 996 1008 N/A INTRINSIC
G_patch 1044 1090 7.87e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193957
Predicted Effect probably benign
Transcript: ENSMUST00000195866
Predicted Effect probably benign
Transcript: ENSMUST00000195883
SMART Domains Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582

DomainStartEndE-ValueType
Blast:ZnF_RBZ 24 48 9e-12 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,376,085 D191V probably damaging Het
Adcy6 T C 15: 98,600,275 D382G probably damaging Het
Arhgef33 A T 17: 80,365,266 probably benign Het
Armc10 A G 5: 21,646,093 probably benign Het
Bcas1 T A 2: 170,349,252 Q586L probably damaging Het
Ccdc88a A C 11: 29,504,321 probably benign Het
Cep250 T A 2: 155,983,376 C1057S probably benign Het
Ctsm A T 13: 61,540,273 M14K probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Fam71b G T 11: 46,405,397 E199* probably null Het
Frem1 A G 4: 82,950,356 Y1463H possibly damaging Het
Gck A T 11: 5,904,472 M251K probably damaging Het
Gzf1 C T 2: 148,683,650 P14S probably damaging Het
Iws1 A T 18: 32,097,222 K748* probably null Het
Kif15 T A 9: 122,963,471 probably benign Het
Ly6g6f A G 17: 35,080,841 probably benign Het
Mrps30 C T 13: 118,380,610 G358R probably damaging Het
Nfrkb T A 9: 31,396,505 probably benign Het
Olfr1033 C T 2: 86,042,097 P261S probably damaging Het
Pakap A T 4: 57,688,477 I107F possibly damaging Het
Pcnt T A 10: 76,370,001 K2506* probably null Het
Pgc G T 17: 47,732,404 G226W probably damaging Het
Pip5k1a C T 3: 95,074,072 V82M probably damaging Het
Plk3 A G 4: 117,130,357 V466A probably damaging Het
Prss44 C A 9: 110,814,677 Q130K probably damaging Het
Rbck1 T C 2: 152,323,232 Y66C probably damaging Het
Rtn4r G T 16: 18,151,326 R206L probably damaging Het
Ryr2 C T 13: 11,585,480 G4613E probably damaging Het
Sema5a T G 15: 32,417,441 L19R possibly damaging Het
Slc30a5 T C 13: 100,821,145 T139A possibly damaging Het
Slco2a1 T G 9: 103,070,296 S265A possibly damaging Het
Smad4 A G 18: 73,640,473 probably benign Het
St13 C T 15: 81,371,507 R240Q probably damaging Het
Tcea3 A C 4: 136,274,776 probably benign Het
Uhrf1bp1l T C 10: 89,774,120 probably null Het
Vmn1r177 T C 7: 23,866,175 Y92C probably damaging Het
Wnt8b A T 19: 44,511,265 D151V probably damaging Het
Zfp426 T A 9: 20,478,157 M1L possibly damaging Het
Other mutations in Rbm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Rbm6 APN 9 107788349 missense probably damaging 1.00
IGL01872:Rbm6 APN 9 107783715 missense probably damaging 0.99
IGL02402:Rbm6 APN 9 107852852 missense probably damaging 1.00
IGL03024:Rbm6 APN 9 107787368 missense probably damaging 0.97
IGL03025:Rbm6 APN 9 107774719 missense possibly damaging 0.76
FR4737:Rbm6 UTSW 9 107782755 frame shift probably null
PIT4402001:Rbm6 UTSW 9 107787850 missense probably damaging 1.00
R0511:Rbm6 UTSW 9 107847289 nonsense probably null
R1666:Rbm6 UTSW 9 107791856 missense probably benign 0.15
R1927:Rbm6 UTSW 9 107852903 missense probably damaging 1.00
R2173:Rbm6 UTSW 9 107852191 missense possibly damaging 0.79
R2262:Rbm6 UTSW 9 107791090 missense probably damaging 1.00
R2439:Rbm6 UTSW 9 107779597 missense probably damaging 1.00
R2566:Rbm6 UTSW 9 107791998 missense possibly damaging 0.60
R2878:Rbm6 UTSW 9 107852450 missense probably damaging 1.00
R4342:Rbm6 UTSW 9 107847247 intron probably benign
R4783:Rbm6 UTSW 9 107852903 missense probably damaging 1.00
R4785:Rbm6 UTSW 9 107787352 missense probably benign 0.06
R5205:Rbm6 UTSW 9 107788343 missense probably benign 0.08
R5253:Rbm6 UTSW 9 107852657 missense probably damaging 1.00
R5279:Rbm6 UTSW 9 107778014 missense probably benign 0.00
R5356:Rbm6 UTSW 9 107852666 missense probably damaging 1.00
R6289:Rbm6 UTSW 9 107777948 missense probably damaging 1.00
R6328:Rbm6 UTSW 9 107787259 missense probably benign 0.00
R6564:Rbm6 UTSW 9 107833498 missense probably damaging 1.00
R6887:Rbm6 UTSW 9 107852231 missense probably damaging 1.00
R6978:Rbm6 UTSW 9 107852575 intron probably null
R7139:Rbm6 UTSW 9 107853211 missense probably damaging 1.00
R7240:Rbm6 UTSW 9 107852896 missense probably damaging 1.00
R7330:Rbm6 UTSW 9 107791045 missense possibly damaging 0.77
R7397:Rbm6 UTSW 9 107852519 missense probably benign
Posted On2014-01-21