Incidental Mutation 'R1268:Rbm27'
ID 151230
Institutional Source Beutler Lab
Gene Symbol Rbm27
Ensembl Gene ENSMUSG00000024491
Gene Name RNA binding motif protein 27
Synonyms Psc1
MMRRC Submission 039335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1268 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 42408418-42474607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42466367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 866 (S866P)
Ref Sequence ENSEMBL: ENSMUSP00000041688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046972] [ENSMUST00000091920]
AlphaFold Q5SFM8
Predicted Effect probably damaging
Transcript: ENSMUST00000046972
AA Change: S866P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
AA Change: S866P

DomainStartEndE-ValueType
Pfam:PWI 7 77 1.4e-10 PFAM
low complexity region 78 105 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
low complexity region 163 188 N/A INTRINSIC
low complexity region 213 235 N/A INTRINSIC
low complexity region 255 268 N/A INTRINSIC
Pfam:zf-CCCH 274 300 5.2e-7 PFAM
low complexity region 317 358 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
low complexity region 448 462 N/A INTRINSIC
low complexity region 541 555 N/A INTRINSIC
SCOP:d1l3ka2 598 638 1e-4 SMART
Blast:RRM 601 643 2e-11 BLAST
Blast:RRM_2 744 782 3e-6 BLAST
low complexity region 783 798 N/A INTRINSIC
low complexity region 853 865 N/A INTRINSIC
low complexity region 924 938 N/A INTRINSIC
low complexity region 945 953 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000091920
AA Change: S910P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
AA Change: S910P

DomainStartEndE-ValueType
Pfam:PWI 7 77 1.5e-10 PFAM
low complexity region 78 105 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
low complexity region 163 188 N/A INTRINSIC
low complexity region 213 235 N/A INTRINSIC
low complexity region 255 268 N/A INTRINSIC
Pfam:zf-CCCH 274 300 5.5e-7 PFAM
low complexity region 317 358 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
low complexity region 486 500 N/A INTRINSIC
RRM 546 615 7.94e-3 SMART
low complexity region 623 658 N/A INTRINSIC
Blast:RRM_2 788 826 3e-6 BLAST
low complexity region 827 842 N/A INTRINSIC
low complexity region 897 909 N/A INTRINSIC
low complexity region 968 982 N/A INTRINSIC
low complexity region 989 997 N/A INTRINSIC
Meta Mutation Damage Score 0.0933 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,108,248 (GRCm39) V1257A probably damaging Het
Aplnr A G 2: 84,967,775 (GRCm39) T267A possibly damaging Het
Arap2 A G 5: 62,887,964 (GRCm39) S461P probably benign Het
Brpf3 A G 17: 29,055,530 (GRCm39) T1160A probably damaging Het
Col5a1 A T 2: 27,892,501 (GRCm39) T1005S unknown Het
Crebrf CTTTT CTTT 17: 26,958,570 (GRCm39) probably null Het
Fmo6 A T 1: 162,748,086 (GRCm39) I326N probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Gnat1 A G 9: 107,553,076 (GRCm39) probably benign Het
Hs6st1 T A 1: 36,108,007 (GRCm39) V90D probably damaging Het
Igsf11 A G 16: 38,845,216 (GRCm39) T257A probably benign Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Mab21l3 C T 3: 101,742,363 (GRCm39) E66K possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mybl2 A G 2: 162,916,636 (GRCm39) N429S probably benign Het
Mycbp2 G A 14: 103,446,218 (GRCm39) T1837I probably damaging Het
Myh7b C A 2: 155,455,966 (GRCm39) S117* probably null Het
Nek1 C A 8: 61,475,298 (GRCm39) A202E probably damaging Het
Notum C T 11: 120,549,493 (GRCm39) W159* probably null Het
Ntn1 TCCTCGGC TC 11: 68,103,959 (GRCm39) probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or2w2 C T 13: 21,758,498 (GRCm39) V43M probably benign Het
Or4c58 A G 2: 89,674,498 (GRCm39) I273T probably damaging Het
Or4f57 G T 2: 111,791,222 (GRCm39) N65K possibly damaging Het
Or5b99 T C 19: 12,976,625 (GRCm39) Y92H possibly damaging Het
Or5p69 A T 7: 107,967,002 (GRCm39) I102F probably benign Het
Or7g12 T C 9: 18,899,652 (GRCm39) F123L probably damaging Het
Plk4 T A 3: 40,765,804 (GRCm39) V659D probably damaging Het
Rnaseh2b A T 14: 62,609,904 (GRCm39) K303N possibly damaging Het
Samd9l C T 6: 3,376,113 (GRCm39) V383I possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slc35f2 T A 9: 53,705,197 (GRCm39) Y62* probably null Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Ulk1 A G 5: 110,938,143 (GRCm39) S610P probably damaging Het
Ulk4 C A 9: 121,086,140 (GRCm39) probably benign Het
Vdr T C 15: 97,755,356 (GRCm39) N389S probably benign Het
Other mutations in Rbm27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Rbm27 APN 18 42,452,879 (GRCm39) missense possibly damaging 0.82
IGL01630:Rbm27 APN 18 42,434,905 (GRCm39) missense probably damaging 1.00
IGL02045:Rbm27 APN 18 42,452,978 (GRCm39) missense possibly damaging 0.52
IGL03031:Rbm27 APN 18 42,466,464 (GRCm39) critical splice donor site probably null
IGL03085:Rbm27 APN 18 42,460,589 (GRCm39) splice site probably benign
IGL03249:Rbm27 APN 18 42,434,812 (GRCm39) missense probably damaging 0.99
IGL03372:Rbm27 APN 18 42,438,781 (GRCm39) missense probably damaging 0.99
messenger UTSW 18 42,466,468 (GRCm39) splice site probably null
R0048:Rbm27 UTSW 18 42,431,529 (GRCm39) missense probably benign 0.02
R0048:Rbm27 UTSW 18 42,431,529 (GRCm39) missense probably benign 0.02
R0111:Rbm27 UTSW 18 42,438,737 (GRCm39) splice site probably benign
R0122:Rbm27 UTSW 18 42,447,033 (GRCm39) intron probably benign
R0707:Rbm27 UTSW 18 42,459,091 (GRCm39) critical splice donor site probably null
R1253:Rbm27 UTSW 18 42,434,839 (GRCm39) missense probably damaging 0.99
R1317:Rbm27 UTSW 18 42,457,116 (GRCm39) splice site probably benign
R1403:Rbm27 UTSW 18 42,450,746 (GRCm39) missense probably damaging 0.97
R1403:Rbm27 UTSW 18 42,450,746 (GRCm39) missense probably damaging 0.97
R2187:Rbm27 UTSW 18 42,459,022 (GRCm39) missense probably damaging 1.00
R2358:Rbm27 UTSW 18 42,425,177 (GRCm39) splice site probably benign
R3123:Rbm27 UTSW 18 42,460,230 (GRCm39) missense probably damaging 1.00
R3711:Rbm27 UTSW 18 42,425,177 (GRCm39) splice site probably benign
R3712:Rbm27 UTSW 18 42,425,177 (GRCm39) splice site probably benign
R4616:Rbm27 UTSW 18 42,434,840 (GRCm39) missense probably damaging 0.96
R4839:Rbm27 UTSW 18 42,460,510 (GRCm39) missense probably damaging 1.00
R5151:Rbm27 UTSW 18 42,471,509 (GRCm39) missense probably damaging 1.00
R5308:Rbm27 UTSW 18 42,460,275 (GRCm39) missense probably damaging 1.00
R5696:Rbm27 UTSW 18 42,450,731 (GRCm39) missense probably damaging 1.00
R5868:Rbm27 UTSW 18 42,433,450 (GRCm39) missense possibly damaging 0.86
R6058:Rbm27 UTSW 18 42,460,570 (GRCm39) missense probably damaging 1.00
R6477:Rbm27 UTSW 18 42,466,383 (GRCm39) missense probably damaging 1.00
R6499:Rbm27 UTSW 18 42,470,076 (GRCm39) missense probably damaging 1.00
R6658:Rbm27 UTSW 18 42,457,178 (GRCm39) missense probably damaging 1.00
R6700:Rbm27 UTSW 18 42,459,004 (GRCm39) missense probably damaging 1.00
R6784:Rbm27 UTSW 18 42,434,929 (GRCm39) missense probably benign 0.00
R6812:Rbm27 UTSW 18 42,466,468 (GRCm39) splice site probably null
R7162:Rbm27 UTSW 18 42,447,092 (GRCm39) missense unknown
R7606:Rbm27 UTSW 18 42,460,578 (GRCm39) missense probably damaging 1.00
R7904:Rbm27 UTSW 18 42,465,921 (GRCm39) missense probably damaging 1.00
R7969:Rbm27 UTSW 18 42,408,545 (GRCm39) start gained probably benign
R8177:Rbm27 UTSW 18 42,457,175 (GRCm39) missense probably damaging 1.00
R9052:Rbm27 UTSW 18 42,465,893 (GRCm39) missense probably damaging 1.00
R9091:Rbm27 UTSW 18 42,438,829 (GRCm39) missense probably benign 0.06
R9206:Rbm27 UTSW 18 42,447,163 (GRCm39) nonsense probably null
R9269:Rbm27 UTSW 18 42,460,572 (GRCm39) missense probably benign 0.02
R9270:Rbm27 UTSW 18 42,438,829 (GRCm39) missense probably benign 0.06
R9680:Rbm27 UTSW 18 42,455,186 (GRCm39) missense probably damaging 0.98
X0065:Rbm27 UTSW 18 42,432,385 (GRCm39) missense possibly damaging 0.70
Z1176:Rbm27 UTSW 18 42,466,299 (GRCm39) frame shift probably null
Z1177:Rbm27 UTSW 18 42,471,517 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCTCAGTCAGTTACAAGTTGAGGTGA -3'
(R):5'- GGCTTTGGAACACCATGCCACTAC -3'

Sequencing Primer
(F):5'- attccctaaccccctctctc -3'
(R):5'- TCGAAGTAAAACCTACTTTCTGACC -3'
Posted On 2014-01-29