Incidental Mutation 'R3757:Rbm11'
ID 271500
Institutional Source Beutler Lab
Gene Symbol Rbm11
Ensembl Gene ENSMUSG00000032940
Gene Name RNA binding motif protein 11
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3757 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 75389796-75399706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75393469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 55 (V55A)
Ref Sequence ENSEMBL: ENSMUSP00000109891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046378] [ENSMUST00000114249] [ENSMUST00000114253]
AlphaFold Q80YT9
Predicted Effect probably damaging
Transcript: ENSMUST00000046378
AA Change: V55A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038956
Gene: ENSMUSG00000032940
AA Change: V55A

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: V55A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109887
Gene: ENSMUSG00000032940
AA Change: V55A

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: V55A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109891
Gene: ENSMUSG00000032940
AA Change: V55A

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 0.3661 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 81,986,415 (GRCm39) I9K probably benign Het
Arhgap31 T C 16: 38,457,362 (GRCm39) E82G probably damaging Het
Asap2 T A 12: 21,317,767 (GRCm39) S993T probably damaging Het
Bmpr1a A T 14: 34,156,624 (GRCm39) L134* probably null Het
Cacna1e A G 1: 154,509,442 (GRCm39) V271A probably damaging Het
Cacna2d4 A G 6: 119,218,124 (GRCm39) E153G probably damaging Het
Cage1 A C 13: 38,209,705 (GRCm39) F91V possibly damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Col9a1 T C 1: 24,271,312 (GRCm39) probably null Het
Cts6 A T 13: 61,349,972 (GRCm39) Y36* probably null Het
Dennd3 C G 15: 73,394,083 (GRCm39) A36G probably benign Het
Dmxl1 G A 18: 50,068,384 (GRCm39) G2719D probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ep300 T A 15: 81,532,790 (GRCm39) V1676E unknown Het
Ercc4 C T 16: 12,962,360 (GRCm39) T668M probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm10985 GCTCTCTCTCTCTCTCTCTCTCTCTCTCT GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 3: 53,752,645 (GRCm39) probably null Het
H1f4 T A 13: 23,806,240 (GRCm39) K81* probably null Het
Havcr1 G T 11: 46,643,407 (GRCm39) R109L probably damaging Het
Krtap4-9 A G 11: 99,676,444 (GRCm39) probably benign Het
Layn T C 9: 50,970,856 (GRCm39) E229G probably benign Het
Lpcat3 T A 6: 124,676,955 (GRCm39) probably null Het
Lrrn1 T A 6: 107,546,169 (GRCm39) F656I possibly damaging Het
Lypd1 A G 1: 125,838,121 (GRCm39) probably benign Het
Or4k41 T A 2: 111,279,602 (GRCm39) V39E possibly damaging Het
Or5v1b T A 17: 37,841,246 (GRCm39) I126N probably damaging Het
Or6c207 T C 10: 129,104,934 (GRCm39) D86G probably damaging Het
Ptprt A T 2: 161,653,950 (GRCm39) L560Q probably damaging Het
Scn11a C T 9: 119,632,569 (GRCm39) V434I probably benign Het
Serpinc1 A G 1: 160,829,935 (GRCm39) T434A probably benign Het
Setd2 T C 9: 110,402,753 (GRCm39) I1798T probably damaging Het
Sfswap A G 5: 129,590,298 (GRCm39) Y265C probably damaging Het
Slc9a8 C A 2: 167,266,050 (GRCm39) T9K probably benign Het
Synpo T C 18: 60,736,062 (GRCm39) D389G probably damaging Het
Vmn1r181 C T 7: 23,683,909 (GRCm39) L125F possibly damaging Het
Wdfy4 A C 14: 32,745,331 (GRCm39) H2296Q probably benign Het
Other mutations in Rbm11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Rbm11 APN 16 75,397,510 (GRCm39) missense probably benign 0.01
IGL02245:Rbm11 APN 16 75,389,896 (GRCm39) missense possibly damaging 0.74
IGL03350:Rbm11 APN 16 75,397,696 (GRCm39) missense probably benign 0.31
R0060:Rbm11 UTSW 16 75,395,667 (GRCm39) missense probably damaging 0.98
R0815:Rbm11 UTSW 16 75,393,525 (GRCm39) missense probably damaging 1.00
R1351:Rbm11 UTSW 16 75,393,531 (GRCm39) missense possibly damaging 0.91
R1562:Rbm11 UTSW 16 75,393,423 (GRCm39) missense probably damaging 1.00
R1793:Rbm11 UTSW 16 75,397,685 (GRCm39) missense probably damaging 1.00
R1891:Rbm11 UTSW 16 75,397,675 (GRCm39) missense possibly damaging 0.87
R1965:Rbm11 UTSW 16 75,395,656 (GRCm39) splice site probably null
R3928:Rbm11 UTSW 16 75,389,932 (GRCm39) critical splice donor site probably null
R4513:Rbm11 UTSW 16 75,393,475 (GRCm39) missense probably damaging 1.00
R5314:Rbm11 UTSW 16 75,393,474 (GRCm39) missense probably damaging 1.00
R5418:Rbm11 UTSW 16 75,393,423 (GRCm39) missense probably damaging 1.00
R5530:Rbm11 UTSW 16 75,389,861 (GRCm39) missense possibly damaging 0.66
R5891:Rbm11 UTSW 16 75,395,725 (GRCm39) missense possibly damaging 0.55
R6293:Rbm11 UTSW 16 75,393,655 (GRCm39) splice site probably null
R7853:Rbm11 UTSW 16 75,389,923 (GRCm39) missense probably damaging 1.00
R8167:Rbm11 UTSW 16 75,395,673 (GRCm39) missense probably benign 0.01
R8356:Rbm11 UTSW 16 75,397,694 (GRCm39) missense probably benign
R9571:Rbm11 UTSW 16 75,397,543 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TTGTGGAGCTATTAACGACTGTTC -3'
(R):5'- AGCAATCTGTGGGTGGTAAAC -3'

Sequencing Primer
(F):5'- TCAAGTTTCTTACAGGCTG -3'
(R):5'- GAGAGGTTGAGAACTACTATCCTCC -3'
Posted On 2015-03-18