Incidental Mutation 'IGL03031:Rbm27'
ID 408473
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 # IGL03031
Quality Score
Status
Chromosome 18
Chromosomal Location 42408418-42474607 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 42466464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046972] [ENSMUST00000091920]
AlphaFold Q5SFM8
Predicted Effect probably null
Transcript: ENSMUST00000046972
SMART Domains Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491

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 null
Transcript: ENSMUST00000091920
SMART Domains Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,183 (GRCm39) D753G probably benign Het
Adat2 T C 10: 13,432,590 (GRCm39) probably benign Het
Ahsa2 A G 11: 23,440,426 (GRCm39) L275S probably benign Het
Arhgef38 C T 3: 132,837,828 (GRCm39) D118N possibly damaging Het
Bicra A T 7: 15,709,726 (GRCm39) H1097Q probably benign Het
C4b T C 17: 34,950,104 (GRCm39) T1389A possibly damaging Het
Cd180 A G 13: 102,841,535 (GRCm39) S194G probably benign Het
Chgb C A 2: 132,635,434 (GRCm39) Q459K probably benign Het
Clvs1 G T 4: 9,449,385 (GRCm39) probably benign Het
Cpox G A 16: 58,492,923 (GRCm39) G186R probably damaging Het
Cul5 A G 9: 53,553,975 (GRCm39) probably benign Het
Epsti1 G A 14: 78,212,021 (GRCm39) R249K probably benign Het
Gabrg1 A T 5: 70,952,025 (GRCm39) Y90* probably null Het
Gabrp T C 11: 33,504,980 (GRCm39) R274G probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Hectd4 C T 5: 121,486,857 (GRCm39) T3284M possibly damaging Het
Hoxc9 T C 15: 102,892,522 (GRCm39) M245T probably damaging Het
Lpar6 T C 14: 73,476,882 (GRCm39) V281A possibly damaging Het
Med18 G T 4: 132,186,924 (GRCm39) Q192K possibly damaging Het
Mis18bp1 A G 12: 65,208,704 (GRCm39) V3A probably benign Het
Mpped2 G T 2: 106,613,968 (GRCm39) probably benign Het
Ms4a10 A G 19: 10,946,035 (GRCm39) V32A probably benign Het
Mthfd1l T A 10: 3,968,601 (GRCm39) probably null Het
Myh1 A T 11: 67,097,213 (GRCm39) Q422L possibly damaging Het
Myo3b A T 2: 70,085,721 (GRCm39) Q819L possibly damaging Het
Ncoa1 G A 12: 4,324,818 (GRCm39) T921I possibly damaging Het
Or10d4b A G 9: 39,534,694 (GRCm39) I92V probably damaging Het
Or6c214 A G 10: 129,591,238 (GRCm39) L27P possibly damaging Het
Or8c16 A C 9: 38,130,361 (GRCm39) T81P probably damaging Het
Phf3 A G 1: 30,843,734 (GRCm39) S1742P probably benign Het
Plxdc2 G A 2: 16,655,043 (GRCm39) probably null Het
Poc5 A G 13: 96,538,123 (GRCm39) T263A probably benign Het
Prss41 T A 17: 24,061,396 (GRCm39) I132F probably damaging Het
Pxylp1 A G 9: 96,707,195 (GRCm39) I329T probably benign Het
Rnps1-ps T C 6: 7,982,857 (GRCm39) noncoding transcript Het
Rpgrip1l A T 8: 91,987,411 (GRCm39) V882E probably damaging Het
Sec16b T C 1: 157,388,369 (GRCm39) S579P probably benign Het
Senp7 A G 16: 55,996,249 (GRCm39) E776G probably damaging Het
Smc2 A G 4: 52,449,638 (GRCm39) I207V probably benign Het
Spata31e5 A G 1: 28,817,664 (GRCm39) F123L probably benign Het
Spats2 A G 15: 99,078,569 (GRCm39) T211A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Syt11 A T 3: 88,656,148 (GRCm39) M1K probably null Het
Tacc2 A G 7: 130,225,585 (GRCm39) T757A possibly damaging Het
Tecta A C 9: 42,256,789 (GRCm39) M1629R probably benign Het
Ufsp2 T A 8: 46,437,137 (GRCm39) I101N probably damaging Het
Unc13b T A 4: 43,235,368 (GRCm39) C892S probably damaging Het
Ush1c A G 7: 45,874,361 (GRCm39) probably benign Het
Vwde A T 6: 13,208,381 (GRCm39) V167E probably benign Het
Wdfy4 A G 14: 32,862,608 (GRCm39) L588P probably damaging Het
Zfyve1 T C 12: 83,621,595 (GRCm39) T267A 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
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 2016-08-02