Incidental Mutation 'IGL02402:Rbm6'
ID291913
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 #IGL02402
Quality Score
Status
Chromosome9
Chromosomal Location107773559-107873237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107852852 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 199 (D199G)
Ref Sequence ENSEMBL: ENSMUSP00000138400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000183035] [ENSMUST00000195866] [ENSMUST00000195883]
Predicted Effect probably damaging
Transcript: ENSMUST00000035201
AA Change: D67G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: D67G

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 damaging
Transcript: ENSMUST00000183032
AA Change: D199G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: D199G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,559,424 F568L probably benign Het
Arntl2 T C 6: 146,809,768 V90A possibly damaging Het
AW112010 T A 19: 11,048,377 noncoding transcript Het
Bbs4 A T 9: 59,330,446 L205H probably benign Het
C2cd2l T C 9: 44,316,581 K121R probably benign Het
Car14 A G 3: 95,899,558 V198A possibly damaging Het
Cd22 G T 7: 30,877,530 H117Q possibly damaging Het
Celf1 T A 2: 90,998,723 I45N probably damaging Het
Cluh T C 11: 74,657,171 S103P probably damaging Het
Cyp39a1 T A 17: 43,691,722 L276Q probably benign Het
Ddx27 T G 2: 167,015,325 probably benign Het
Defb4 A T 8: 19,201,263 I49F possibly damaging Het
Dock8 C A 19: 25,078,145 T157K probably benign Het
Dpp6 T C 5: 27,634,543 V352A probably damaging Het
Elmo2 C T 2: 165,297,392 E412K probably damaging Het
Eme1 G A 11: 94,650,907 P30S possibly damaging Het
Espnl G T 1: 91,344,813 A632S probably benign Het
Gfod1 C A 13: 43,200,735 A255S probably benign Het
Helz2 T A 2: 181,230,911 K2432M probably damaging Het
Idua T C 5: 108,679,791 L157P probably damaging Het
Ifi207 T A 1: 173,727,593 D848V probably damaging Het
Jag1 C T 2: 137,085,938 S851N possibly damaging Het
Kat6b T A 14: 21,631,347 F571I probably damaging Het
Lrrc74b G A 16: 17,558,164 probably benign Het
Mst1r A G 9: 107,916,827 K1160E probably damaging Het
Muc19 C A 15: 91,893,998 noncoding transcript Het
Nrg4 G A 9: 55,227,914 probably benign Het
Ociad1 T C 5: 73,300,694 I12T possibly damaging Het
Olfr98 A G 17: 37,263,220 V148A possibly damaging Het
Pold3 A G 7: 100,100,411 probably benign Het
Psmd5 T C 2: 34,857,772 E291G probably damaging Het
Ptpn23 A G 9: 110,393,713 V92A possibly damaging Het
Rab44 T A 17: 29,140,516 H559Q probably benign Het
Rps18-ps3 C T 8: 107,263,122 noncoding transcript Het
Sept10 T C 10: 59,170,936 T93A probably benign Het
Slmap T C 14: 26,463,710 T111A probably damaging Het
Spata25 C T 2: 164,828,457 M1I probably null Het
Spink5 T A 18: 43,967,104 C63S probably damaging Het
Sycp3 T C 10: 88,466,563 probably benign Het
Tarbp1 A G 8: 126,450,828 probably benign Het
Thbs2 A T 17: 14,671,454 N940K probably benign Het
Tmem106b A T 6: 13,081,601 Q169L possibly damaging Het
Trpm6 G T 19: 18,786,756 C242F probably benign Het
Ush2a T A 1: 188,267,108 M205K probably benign Het
Utp18 A C 11: 93,883,791 probably benign Het
Other mutations in Rbm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Rbm6 APN 9 107788349 missense probably damaging 1.00
IGL01647:Rbm6 APN 9 107852882 missense probably benign 0.13
IGL01872:Rbm6 APN 9 107783715 missense probably damaging 0.99
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 On2015-04-16