Incidental Mutation 'R5713:Rbm24'
ID 451011
Institutional Source Beutler Lab
Gene Symbol Rbm24
Ensembl Gene ENSMUSG00000038132
Gene Name RNA binding motif protein 24
Synonyms 6330546B05Rik
MMRRC Submission 043335-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R5713 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 46571910-46584571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46582780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 233 (D233G)
Ref Sequence ENSEMBL: ENSMUSP00000043120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037923]
AlphaFold D3Z4I3
Predicted Effect probably damaging
Transcript: ENSMUST00000037923
AA Change: D233G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043120
Gene: ENSMUSG00000038132
AA Change: D233G

DomainStartEndE-ValueType
RRM 12 84 1.48e-26 SMART
low complexity region 155 185 N/A INTRINSIC
low complexity region 203 221 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225890
Meta Mutation Damage Score 0.1448 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (56/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E12.5 and E13.5 with embryonic growth retardation, thin and unfused atrioventricular cushions, reduced myocardial trabeculation and increased apoptosis in the heart. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,889,414 (GRCm39) Y431* probably null Het
Abtb3 A T 10: 85,487,516 (GRCm39) I995F probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arid1b C A 17: 5,387,091 (GRCm39) R1515S probably damaging Het
Atp5mc3 A G 2: 73,739,651 (GRCm39) V63A probably benign Het
Bmp6 C T 13: 38,682,928 (GRCm39) P473S probably damaging Het
Casp3 C A 8: 47,089,349 (GRCm39) T199K probably damaging Het
Ccl3 C T 11: 83,540,066 (GRCm39) C13Y possibly damaging Het
Cdc42bpa T C 1: 179,911,975 (GRCm39) S518P probably benign Het
Clic3 A T 2: 25,348,179 (GRCm39) I109F probably damaging Het
Dnah9 T A 11: 65,916,049 (GRCm39) D2301V possibly damaging Het
Gm26627 A G 6: 29,507,850 (GRCm39) probably benign Het
Gm4887 A T 7: 104,471,000 (GRCm39) noncoding transcript Het
Hc A C 2: 34,903,543 (GRCm39) I1037S probably damaging Het
Il2rb A G 15: 78,376,048 (GRCm39) M1T probably null Het
Ing5 T A 1: 93,740,452 (GRCm39) D124E probably benign Het
Jak2 A G 19: 29,248,793 (GRCm39) E90G probably damaging Het
Kalrn A T 16: 33,836,949 (GRCm39) I522N probably benign Het
Lipa A T 19: 34,500,832 (GRCm39) H71Q probably benign Het
Lmnb2 C T 10: 80,741,921 (GRCm39) V57M probably damaging Het
Mllt3 A T 4: 87,759,448 (GRCm39) M200K probably benign Het
Mtpap G A 18: 4,396,280 (GRCm39) S524N probably benign Het
Mup21 C G 4: 62,068,511 (GRCm39) E52Q probably damaging Het
Nasp A G 4: 116,471,558 (GRCm39) F90L probably benign Het
Nr1d1 T C 11: 98,661,237 (GRCm39) D343G probably benign Het
Otop2 T A 11: 115,219,870 (GRCm39) F237I probably damaging Het
Pax4 A G 6: 28,446,184 (GRCm39) I103T probably damaging Het
Pde4a T A 9: 21,114,813 (GRCm39) S430T probably damaging Het
Phf20l1 A G 15: 66,508,669 (GRCm39) N843D possibly damaging Het
Pla2g7 T A 17: 43,905,183 (GRCm39) M37K probably benign Het
Plcb3 T C 19: 6,935,060 (GRCm39) I864V probably damaging Het
Prr16 A G 18: 51,435,910 (GRCm39) T130A probably damaging Het
Rps29 C A 12: 69,205,502 (GRCm39) R32L probably benign Het
Serpind1 A G 16: 17,154,851 (GRCm39) E226G probably damaging Het
Siglecg A T 7: 43,058,226 (GRCm39) I38F probably damaging Het
Slc26a8 T A 17: 28,880,853 (GRCm39) M308L probably benign Het
Supv3l1 A G 10: 62,266,283 (GRCm39) V631A possibly damaging Het
Tcf12 T C 9: 71,792,545 (GRCm39) *58W probably null Het
Trgc2 T A 13: 19,491,515 (GRCm39) probably benign Het
Usp34 T A 11: 23,293,515 (GRCm39) V203E possibly damaging Het
Vmn2r108 A G 17: 20,691,290 (GRCm39) L411P probably damaging Het
Zfp874a A T 13: 67,597,476 (GRCm39) D42E probably benign Het
Other mutations in Rbm24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02265:Rbm24 APN 13 46,573,826 (GRCm39) missense possibly damaging 0.89
R0492:Rbm24 UTSW 13 46,573,826 (GRCm39) missense probably damaging 0.98
R6291:Rbm24 UTSW 13 46,575,313 (GRCm39) splice site probably null
R6299:Rbm24 UTSW 13 46,572,549 (GRCm39) missense probably damaging 1.00
R6679:Rbm24 UTSW 13 46,572,468 (GRCm39) start gained probably benign
R7670:Rbm24 UTSW 13 46,582,683 (GRCm39) missense probably benign 0.03
R7707:Rbm24 UTSW 13 46,582,605 (GRCm39) missense possibly damaging 0.89
R7999:Rbm24 UTSW 13 46,572,507 (GRCm39) start codon destroyed possibly damaging 0.96
R8101:Rbm24 UTSW 13 46,582,767 (GRCm39) nonsense probably null
R8101:Rbm24 UTSW 13 46,582,444 (GRCm39) missense probably benign 0.23
R8350:Rbm24 UTSW 13 46,572,676 (GRCm39) critical splice donor site probably null
R8836:Rbm24 UTSW 13 46,582,780 (GRCm39) missense probably damaging 0.98
R8979:Rbm24 UTSW 13 46,572,531 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTACACTGGAGCCGCCTAC -3'
(R):5'- TAGCACTACCGGGAGTATGG -3'

Sequencing Primer
(F):5'- CGCTGCCTATGACCAGTAC -3'
(R):5'- GGTAAAAAGTAACACCTCTGCTTC -3'
Posted On 2017-01-03