Incidental Mutation 'IGL01630:Rbm27'
ID 92911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm27
Ensembl Gene ENSMUSG00000024491
Gene Name RNA binding motif protein 27
Synonyms Psc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01630
Quality Score
Status
Chromosome 18
Chromosomal Location 42408418-42474607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42434905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 323 (L323H)
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: L323H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
AA Change: L323H

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: L323H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
AA Change: L323H

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,069,171 (GRCm39) T207A possibly damaging Het
Ak8 T A 2: 28,602,291 (GRCm39) M75K probably benign Het
Aldh1a7 A T 19: 20,673,693 (GRCm39) probably benign Het
Ankrd34c G A 9: 89,611,879 (GRCm39) T154I probably damaging Het
Arrb2 A G 11: 70,327,697 (GRCm39) I120M probably damaging Het
Atp2a1 A G 7: 126,049,437 (GRCm39) V535A probably benign Het
Cckbr G T 7: 105,083,293 (GRCm39) W165C probably damaging Het
Col12a1 A T 9: 79,564,648 (GRCm39) H1677Q probably damaging Het
Fancd2 T C 6: 113,540,085 (GRCm39) F658S probably damaging Het
Gm5581 A T 6: 131,145,259 (GRCm39) noncoding transcript Het
H2-M3 A G 17: 37,581,548 (GRCm39) E70G possibly damaging Het
Hltf A G 3: 20,137,068 (GRCm39) probably benign Het
Ighv1-24 C A 12: 114,736,673 (GRCm39) V76F probably benign Het
Igkv1-110 A T 6: 68,248,145 (GRCm39) R85W probably damaging Het
Kif9 A C 9: 110,314,138 (GRCm39) R43S probably benign Het
Klf11 T C 12: 24,710,368 (GRCm39) I472T probably benign Het
Napsa A G 7: 44,236,089 (GRCm39) Y376C probably damaging Het
Notch2 C T 3: 98,053,934 (GRCm39) A2199V possibly damaging Het
Or10a5 A T 7: 106,636,318 (GRCm39) probably benign Het
Or1e30 A G 11: 73,678,687 (GRCm39) K308E probably benign Het
Pcnt T A 10: 76,256,080 (GRCm39) D720V probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptk6 T C 2: 180,838,859 (GRCm39) E298G probably damaging Het
Sall3 A G 18: 81,014,484 (GRCm39) L1076P probably benign Het
Sprr2h A G 3: 92,294,258 (GRCm39) N35S unknown Het
Susd1 T C 4: 59,365,817 (GRCm39) D412G possibly damaging Het
Ugdh T A 5: 65,574,248 (GRCm39) M432L probably benign Het
Uggt2 C T 14: 119,280,184 (GRCm39) V765I probably benign Het
Unc13d T C 11: 115,964,692 (GRCm39) Q258R probably benign Het
Wdfy3 A T 5: 102,055,354 (GRCm39) F1572Y probably benign Het
Xpo1 A G 11: 23,235,846 (GRCm39) T645A probably benign Het
Zer1 A G 2: 29,991,843 (GRCm39) V659A probably damaging Het
Other mutations in Rbm27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Rbm27 APN 18 42,452,879 (GRCm39) missense possibly damaging 0.82
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
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
Posted On 2013-12-09