Incidental Mutation 'R0060:Rbm11'
ID16320
Institutional Source Beutler Lab
Gene Symbol Rbm11
Ensembl Gene ENSMUSG00000032940
Gene NameRNA binding motif protein 11
Synonyms
MMRRC Submission 038353-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R0060 (G1)
Quality Score
Status Validated
Chromosome16
Chromosomal Location75592844-75602829 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 75598779 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 113 (D113Y)
Ref Sequence ENSEMBL: ENSMUSP00000109891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046378] [ENSMUST00000114249] [ENSMUST00000114253]
Predicted Effect probably damaging
Transcript: ENSMUST00000046378
AA Change: D113Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038956
Gene: ENSMUSG00000032940
AA Change: D113Y

DomainStartEndE-ValueType
RRM 11 83 3.25e-23 SMART
low complexity region 210 217 N/A INTRINSIC
low complexity region 228 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114249
AA Change: D113Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109887
Gene: ENSMUSG00000032940
AA Change: D113Y

DomainStartEndE-ValueType
RRM 11 83 3.25e-23 SMART
low complexity region 210 217 N/A INTRINSIC
low complexity region 228 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114253
AA Change: D113Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109891
Gene: ENSMUSG00000032940
AA Change: D113Y

DomainStartEndE-ValueType
RRM 11 83 3.25e-23 SMART
low complexity region 210 217 N/A INTRINSIC
low complexity region 228 237 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 88.3%
  • 10x: 83.8%
  • 20x: 78.1%
Validation Efficiency 94% (74/79)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik C A 14: 32,806,769 probably benign Het
1810065E05Rik A C 11: 58,422,182 probably benign Het
4930432E11Rik A G 7: 29,574,170 noncoding transcript Het
A630091E08Rik A G 7: 98,543,668 noncoding transcript Het
Abca8a T C 11: 110,070,480 T539A probably damaging Het
Adam34 A T 8: 43,675,883 probably benign Het
Ankrd60 A T 2: 173,572,613 M1K probably null Het
Cald1 T C 6: 34,715,459 probably benign Het
Capn7 T C 14: 31,365,604 probably benign Het
Cd109 G A 9: 78,703,107 E1145K probably damaging Het
Celsr1 A T 15: 85,922,198 V2353D probably damaging Het
Cep135 A T 5: 76,621,350 I616F probably benign Het
Cep162 T A 9: 87,237,825 probably benign Het
Cep350 C T 1: 155,928,626 D904N probably damaging Het
Cep85 T C 4: 134,167,300 D65G probably damaging Het
Cfdp1 T C 8: 111,840,354 probably benign Het
Chl1 T A 6: 103,711,058 probably benign Het
Colec10 G A 15: 54,439,146 probably benign Het
Crxos A G 7: 15,898,523 T40A possibly damaging Het
Dnhd1 A G 7: 105,668,514 D472G probably damaging Het
Dpp6 C A 5: 27,598,819 N254K probably damaging Het
Eps8l3 T C 3: 107,879,541 L11S probably damaging Het
Flad1 G A 3: 89,402,245 R515* probably null Het
Fzd5 T C 1: 64,735,676 T309A probably benign Het
Gm19685 T C 17: 60,768,423 Het
Gsdme A G 6: 50,221,029 I317T possibly damaging Het
Hist1h2ba A T 13: 23,933,945 I71N possibly damaging Het
Incenp A G 19: 9,885,459 probably benign Het
Itgad T C 7: 128,202,986 S979P probably damaging Het
Kat2b T C 17: 53,654,543 V557A probably damaging Het
Lamc1 A T 1: 153,241,868 probably benign Het
Lgi4 G A 7: 31,063,571 G157D probably damaging Het
Mga T C 2: 119,960,961 probably null Het
Nubpl T C 12: 52,310,687 probably benign Het
Olfr1105 T C 2: 87,033,774 Y149C probably damaging Het
Olfr124 T C 17: 37,806,000 L285P probably damaging Het
Olfr898 C T 9: 38,349,512 S143F probably benign Het
Peak1 A T 9: 56,227,823 I78K probably damaging Het
Prune2 T A 19: 17,003,733 F85I probably damaging Het
Rif1 C T 2: 52,111,117 R1528C probably damaging Het
Sema4d A G 13: 51,705,257 probably benign Het
Slc30a4 T A 2: 122,685,184 T381S probably benign Het
Slf2 G T 19: 44,948,004 G696V probably damaging Het
Suv39h2 T C 2: 3,464,916 Y134C probably damaging Het
Tmem89 T A 9: 108,915,417 V126D probably damaging Het
Trf T C 9: 103,220,922 T46A probably benign Het
Trmt6 C T 2: 132,806,769 R415Q possibly damaging Het
Trp53bp1 T C 2: 121,204,525 K1625E probably damaging Het
Usp6nl T A 2: 6,440,890 D559E probably benign Het
Wdr75 A G 1: 45,816,617 D476G probably benign Het
Wrap53 A C 11: 69,563,430 L261V possibly damaging Het
Zcchc4 T A 5: 52,807,078 I292N possibly damaging Het
Other mutations in Rbm11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Rbm11 APN 16 75600622 missense probably benign 0.01
IGL02245:Rbm11 APN 16 75593008 missense possibly damaging 0.74
IGL03350:Rbm11 APN 16 75600808 missense probably benign 0.31
R0815:Rbm11 UTSW 16 75596637 missense probably damaging 1.00
R1351:Rbm11 UTSW 16 75596643 missense possibly damaging 0.91
R1562:Rbm11 UTSW 16 75596535 missense probably damaging 1.00
R1793:Rbm11 UTSW 16 75600797 missense probably damaging 1.00
R1891:Rbm11 UTSW 16 75600787 missense possibly damaging 0.87
R1965:Rbm11 UTSW 16 75598768 splice site probably null
R3757:Rbm11 UTSW 16 75596581 missense probably damaging 1.00
R3928:Rbm11 UTSW 16 75593044 critical splice donor site probably null
R4513:Rbm11 UTSW 16 75596587 missense probably damaging 1.00
R5314:Rbm11 UTSW 16 75596586 missense probably damaging 1.00
R5418:Rbm11 UTSW 16 75596535 missense probably damaging 1.00
R5530:Rbm11 UTSW 16 75592973 missense possibly damaging 0.66
R5891:Rbm11 UTSW 16 75598837 missense possibly damaging 0.55
R6293:Rbm11 UTSW 16 75596767 splice site probably null
R7853:Rbm11 UTSW 16 75593035 missense probably damaging 1.00
R8167:Rbm11 UTSW 16 75598785 missense probably benign 0.01
Posted On2013-01-20