Incidental Mutation 'IGL03350:Rbm11'
ID 419670
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03350
Quality Score
Status
Chromosome 16
Chromosomal Location 75389796-75399706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75397696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 209 (P209S)
Ref Sequence ENSEMBL: ENSMUSP00000109891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046378] [ENSMUST00000114249] [ENSMUST00000114253]
AlphaFold Q80YT9
Predicted Effect probably benign
Transcript: ENSMUST00000046378
AA Change: P209S

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038956
Gene: ENSMUSG00000032940
AA Change: P209S

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 benign
Transcript: ENSMUST00000114249
AA Change: P209S

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109887
Gene: ENSMUSG00000032940
AA Change: P209S

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 benign
Transcript: ENSMUST00000114253
AA Change: P209S

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109891
Gene: ENSMUSG00000032940
AA Change: P209S

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,589 (GRCm39) Y300* probably null Het
Adgre1 T A 17: 57,708,908 (GRCm39) V33E probably benign Het
AI987944 A G 7: 41,042,661 (GRCm39) probably benign Het
Atp4a T C 7: 30,420,292 (GRCm39) L813P probably damaging Het
Blmh A G 11: 76,862,774 (GRCm39) N396D probably damaging Het
Brat1 T C 5: 140,691,750 (GRCm39) L9P probably damaging Het
Ccdc171 T C 4: 83,599,615 (GRCm39) I810T possibly damaging Het
Clec2m C A 6: 129,307,986 (GRCm39) V28L probably benign Het
Cyp2a22 T C 7: 26,634,279 (GRCm39) T292A possibly damaging Het
Ecm2 C T 13: 49,674,420 (GRCm39) T280I probably benign Het
Fa2h C T 8: 112,075,928 (GRCm39) V232I probably benign Het
Fbxw24 T C 9: 109,436,081 (GRCm39) D317G probably damaging Het
Flt4 C A 11: 49,525,620 (GRCm39) S722* probably null Het
Fryl T C 5: 73,290,649 (GRCm39) Q85R probably damaging Het
Gm3239 A G 14: 15,882,083 (GRCm39) R188G possibly damaging Het
Hspa13 A T 16: 75,554,717 (GRCm39) S456R probably damaging Het
Htr1b T C 9: 81,514,175 (GRCm39) Y144C probably damaging Het
Hydin A G 8: 111,038,856 (GRCm39) H198R possibly damaging Het
Krt78 A T 15: 101,854,952 (GRCm39) M953K probably benign Het
Lgr5 G T 10: 115,307,893 (GRCm39) T255K probably damaging Het
Lrp2 T A 2: 69,268,797 (GRCm39) D4162V probably damaging Het
Map3k2 A G 18: 32,345,201 (GRCm39) D342G probably damaging Het
Miip A G 4: 147,946,979 (GRCm39) V258A probably benign Het
Muc6 T C 7: 141,238,324 (GRCm39) H52R probably damaging Het
Nfs1 T C 2: 155,969,660 (GRCm39) E329G probably benign Het
Npsr1 T C 9: 24,009,605 (GRCm39) V37A probably benign Het
Or1ak2 T C 2: 36,827,595 (GRCm39) Y155H probably damaging Het
Or1e17 A T 11: 73,831,664 (GRCm39) L197F probably damaging Het
Or5aq1b A C 2: 86,901,904 (GRCm39) D191E probably damaging Het
Pex16 T A 2: 92,207,842 (GRCm39) M98K probably damaging Het
Pla2r1 C T 2: 60,285,517 (GRCm39) C699Y probably damaging Het
Plcd4 A T 1: 74,588,460 (GRCm39) D103V probably damaging Het
Pnpla1 A G 17: 29,095,966 (GRCm39) D129G probably damaging Het
Rad23a T C 8: 85,564,108 (GRCm39) E265G possibly damaging Het
Ribc2 T A 15: 85,019,703 (GRCm39) W162R probably damaging Het
Rnf4 A G 5: 34,504,204 (GRCm39) E32G possibly damaging Het
Rpe65 A T 3: 159,320,154 (GRCm39) S269C possibly damaging Het
Slc7a14 T A 3: 31,291,558 (GRCm39) Y240F probably benign Het
Sorbs2 C T 8: 46,258,844 (GRCm39) P1047L probably damaging Het
Ttn T C 2: 76,580,166 (GRCm39) I23576V probably damaging Het
Usp24 T G 4: 106,228,276 (GRCm39) Y780* probably null Het
Wee2 T C 6: 40,426,665 (GRCm39) S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 (GRCm39) T126A probably benign Het
Zpld1 A G 16: 55,061,692 (GRCm39) probably benign Het
Zup1 G A 10: 33,804,107 (GRCm39) R456C 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
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
R3757:Rbm11 UTSW 16 75,393,469 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02