Incidental Mutation 'R4616:Rbm27'
ID 351074
Institutional Source Beutler Lab
Gene Symbol Rbm27
Ensembl Gene ENSMUSG00000024491
Gene Name RNA binding motif protein 27
Synonyms Psc1
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 42408418-42474607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42434840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 301 (D301E)
Ref Sequence ENSEMBL: ENSMUSP00000089540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046972] [ENSMUST00000091920]
AlphaFold Q5SFM8
Predicted Effect probably damaging
Transcript: ENSMUST00000046972
AA Change: D301E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
AA Change: D301E

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 probably damaging
Transcript: ENSMUST00000091920
AA Change: D301E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
AA Change: D301E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175194
Meta Mutation Damage Score 0.4814 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly damaging 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
R1268:Rbm27 UTSW 18 42,466,367 (GRCm39) missense probably damaging 1.00
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
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'- TGCCTCTACTTCAAGGCTATGTG -3'
(R):5'- CTTGAGGAACAGGAAGTCTCATAC -3'

Sequencing Primer
(F):5'- CAAGGCTATGTGGTCATTAATAGG -3'
(R):5'- TCATACTATGACCAGGGCCTG -3'
Posted On 2015-10-08