Incidental Mutation 'R4706:Rbm8a'
ID 470327
Institutional Source Beutler Lab
Gene Symbol Rbm8a
Ensembl Gene ENSMUSG00000038374
Gene Name RNA binding motif protein 8a
Synonyms 2310057C03Rik, Rbm8
MMRRC Submission 041954-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4706 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96537249-96541107 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 96537368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048915] [ENSMUST00000062058] [ENSMUST00000196456] [ENSMUST00000198027] [ENSMUST00000200647]
AlphaFold Q9CWZ3
Predicted Effect probably benign
Transcript: ENSMUST00000048915
SMART Domains Protein: ENSMUSP00000044548
Gene: ENSMUSG00000038374

DomainStartEndE-ValueType
low complexity region 27 36 N/A INTRINSIC
RRM 74 147 8.44e-22 SMART
low complexity region 152 174 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059190
Predicted Effect probably benign
Transcript: ENSMUST00000062058
SMART Domains Protein: ENSMUSP00000057623
Gene: ENSMUSG00000049288

DomainStartEndE-ValueType
Pfam:LIX1 80 328 8.9e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160818
Predicted Effect probably benign
Transcript: ENSMUST00000196456
SMART Domains Protein: ENSMUSP00000143190
Gene: ENSMUSG00000038374

DomainStartEndE-ValueType
low complexity region 27 36 N/A INTRINSIC
RRM 74 147 8.44e-22 SMART
low complexity region 152 174 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000198027
AA Change: G31R
SMART Domains Protein: ENSMUSP00000143346
Gene: ENSMUSG00000038374
AA Change: G31R

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
low complexity region 38 47 N/A INTRINSIC
RRM 85 158 3.5e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199628
Predicted Effect probably benign
Transcript: ENSMUST00000200647
SMART Domains Protein: ENSMUSP00000142699
Gene: ENSMUSG00000038374

DomainStartEndE-ValueType
RRM 25 98 3.5e-24 SMART
low complexity region 103 125 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,064,988 (GRCm39) N548K probably damaging Het
Abcd2 T C 15: 91,043,385 (GRCm39) D601G probably benign Het
Afap1l2 A T 19: 56,925,672 (GRCm39) I152N possibly damaging Het
Ankrd52 T G 10: 128,214,030 (GRCm39) M62R probably benign Het
Aox4 A T 1: 58,305,946 (GRCm39) T1317S probably damaging Het
Apol7c T A 15: 77,409,923 (GRCm39) Q341L probably benign Het
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt2 C T 11: 95,766,923 (GRCm39) probably null Het
Cecr2 A T 6: 120,732,539 (GRCm39) E477V possibly damaging Het
Chmp7 A T 14: 69,956,010 (GRCm39) D419E probably benign Het
Cmip A C 8: 118,103,893 (GRCm39) K127T probably damaging Het
Csmd2 T C 4: 128,438,544 (GRCm39) V3041A probably benign Het
Cyp1b1 T A 17: 80,020,771 (GRCm39) I324F possibly damaging Het
Dapp1 T C 3: 137,638,928 (GRCm39) D225G probably benign Het
Ddx10 T C 9: 53,145,231 (GRCm39) T249A probably damaging Het
Dscaml1 T C 9: 45,361,878 (GRCm39) Y213H probably damaging Het
Eef1a2 T C 2: 180,797,150 (GRCm39) D17G probably damaging Het
Fbn1 T C 2: 125,212,069 (GRCm39) I848V probably benign Het
Fbxw18 A G 9: 109,519,585 (GRCm39) I307T probably benign Het
Fxr1 T A 3: 34,118,278 (GRCm39) D500E probably damaging Het
Gars1 G A 6: 55,046,363 (GRCm39) G492D probably damaging Het
Gria2 A T 3: 80,648,297 (GRCm39) D146E probably benign Het
Gstz1 A G 12: 87,205,894 (GRCm39) N37S probably benign Het
Hnrnph3 C A 10: 62,853,059 (GRCm39) G194V probably damaging Het
Il2rb T C 15: 78,370,600 (GRCm39) R172G possibly damaging Het
Itga11 T A 9: 62,662,578 (GRCm39) V517D possibly damaging Het
Kcnq4 A G 4: 120,561,683 (GRCm39) I462T probably benign Het
Klf6 T A 13: 5,911,639 (GRCm39) M1K probably null Het
Lrp8 G A 4: 107,718,470 (GRCm39) A817T probably benign Het
Map3k5 T A 10: 19,934,684 (GRCm39) Y509N probably damaging Het
Mdc1 C T 17: 36,163,671 (GRCm39) S1073F probably damaging Het
Mme A G 3: 63,256,133 (GRCm39) D531G possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 A T 4: 106,548,821 (GRCm39) V1014E possibly damaging Het
Msantd5l A T 11: 51,144,668 (GRCm39) F204L possibly damaging Het
Myo1d C T 11: 80,557,467 (GRCm39) C491Y probably damaging Het
Ncoa3 C A 2: 165,889,799 (GRCm39) D61E probably damaging Het
Nmrk1 A G 19: 18,622,491 (GRCm39) E190G probably benign Het
Nr4a2 G T 2: 57,002,225 (GRCm39) P13H probably damaging Het
Nup205 T C 6: 35,178,943 (GRCm39) L671P probably damaging Het
Omt2a T C 9: 78,220,352 (GRCm39) I16V probably benign Het
Or4c116 A T 2: 88,942,576 (GRCm39) F93L probably damaging Het
Or51f2 T A 7: 102,526,640 (GRCm39) H104Q probably damaging Het
Or6n1 A G 1: 173,917,268 (GRCm39) I221V probably damaging Het
Or8k24 G A 2: 86,216,732 (GRCm39) T10I probably benign Het
Or8s5 G T 15: 98,238,659 (GRCm39) H70Q possibly damaging Het
Osbpl9 A T 4: 109,013,884 (GRCm39) I70N probably damaging Het
Pclo A T 5: 14,764,221 (GRCm39) L4231F unknown Het
Per1 C T 11: 68,991,444 (GRCm39) probably benign Het
Perm1 G T 4: 156,301,531 (GRCm39) C25F probably damaging Het
Phf3 A G 1: 30,844,687 (GRCm39) V1424A probably damaging Het
Plxnb1 T G 9: 108,941,096 (GRCm39) L1625R probably damaging Het
Ppid G A 3: 79,506,359 (GRCm39) V216I probably benign Het
Ppp4r3a C T 12: 101,008,175 (GRCm39) G754D probably damaging Het
Prex2 G T 1: 11,270,212 (GRCm39) W1299L probably damaging Het
Ptprn2 C A 12: 116,835,714 (GRCm39) Q350K probably benign Het
Ralyl G A 3: 14,104,850 (GRCm39) probably null Het
Relch T A 1: 105,620,004 (GRCm39) M353K probably benign Het
Ros1 A G 10: 51,977,990 (GRCm39) S1419P possibly damaging Het
Rps6ka5 C T 12: 100,564,144 (GRCm39) probably null Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Rtel1 T C 2: 180,965,539 (GRCm39) probably null Het
Sacs A G 14: 61,441,722 (GRCm39) E1256G probably damaging Het
Sec23a A G 12: 59,029,372 (GRCm39) V467A probably damaging Het
Sec24d T A 3: 123,149,427 (GRCm39) N811K possibly damaging Het
Sf3b1 G A 1: 55,029,666 (GRCm39) T1112M probably damaging Het
Shisa5 T A 9: 108,885,128 (GRCm39) C133S probably null Het
Slc16a6 A G 11: 109,354,193 (GRCm39) S59P probably benign Het
Slc25a31 G A 3: 40,670,975 (GRCm39) A89T probably damaging Het
Slc6a1 G T 6: 114,284,713 (GRCm39) R257L possibly damaging Het
Sntb1 C T 15: 55,612,670 (GRCm39) V303M probably benign Het
Snx20 A G 8: 89,354,439 (GRCm39) V97A probably damaging Het
Vmn1r29 T A 6: 58,285,136 (GRCm39) N285K probably benign Het
Vmn2r98 T G 17: 19,290,007 (GRCm39) S514R probably damaging Het
Zfp28 A T 7: 6,392,793 (GRCm39) E156D probably damaging Het
Zfp39 A G 11: 58,793,633 (GRCm39) V35A probably benign Het
Zfp536 A C 7: 37,268,891 (GRCm39) I175S probably damaging Het
Zic5 A T 14: 122,696,969 (GRCm39) S549T unknown Het
Other mutations in Rbm8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01809:Rbm8a APN 3 96,538,853 (GRCm39) missense probably damaging 1.00
R1616:Rbm8a UTSW 3 96,539,046 (GRCm39) utr 3 prime probably benign
R5186:Rbm8a UTSW 3 96,538,248 (GRCm39) missense probably damaging 0.99
R7693:Rbm8a UTSW 3 96,537,624 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2017-03-08