Incidental Mutation 'IGL03249:Rbm27'
ID 414513
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 # IGL03249
Quality Score
Status
Chromosome 18
Chromosomal Location 42408418-42474607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42434812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 292 (D292G)
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: D292G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
AA Change: D292G

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: D292G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
AA Change: D292G

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik A G 7: 43,900,149 (GRCm39) Y18C probably damaging Het
Abcc4 A G 14: 118,865,118 (GRCm39) probably benign Het
Acnat2 T C 4: 49,381,787 (GRCm39) K202E probably benign Het
Aoc1l3 A T 6: 48,965,303 (GRCm39) H437L probably benign Het
Arid2 A T 15: 96,299,846 (GRCm39) R1786S probably damaging Het
Atp2a1 C T 7: 126,061,977 (GRCm39) E40K probably benign Het
Cdc23 A G 18: 34,777,069 (GRCm39) probably benign Het
Ctnnd2 A G 15: 30,683,382 (GRCm39) D461G probably benign Het
Galntl6 G T 8: 58,230,210 (GRCm39) probably benign Het
Gcc2 T A 10: 58,106,814 (GRCm39) Y583* probably null Het
Or11g7 T C 14: 50,690,668 (GRCm39) V53A probably damaging Het
Plekhg2 C A 7: 28,067,427 (GRCm39) R281L probably damaging Het
Ryr3 A T 2: 112,471,001 (GRCm39) M4594K probably benign Het
Sec22a T C 16: 35,168,133 (GRCm39) Y126C probably damaging Het
Svopl T C 6: 37,993,988 (GRCm39) T348A probably benign Het
Tecta T C 9: 42,303,182 (GRCm39) E150G probably benign Het
Ttc8 T G 12: 98,910,080 (GRCm39) probably benign Het
Zfp51 T A 17: 21,683,701 (GRCm39) N105K probably 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
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 2016-08-02