Incidental Mutation 'IGL01809:Rbm8a'
ID155758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm8a
Ensembl Gene ENSMUSG00000038374
Gene NameRNA binding motif protein 8a
Synonyms2310057C03Rik, Rbm8
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01809
Quality Score
Status
Chromosome3
Chromosomal Location96629933-96633791 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 96631537 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 101 (F101I)
Ref Sequence ENSEMBL: ENSMUSP00000142699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048766] [ENSMUST00000048915] [ENSMUST00000118557] [ENSMUST00000137564] [ENSMUST00000156015] [ENSMUST00000165842] [ENSMUST00000196456] [ENSMUST00000198027] [ENSMUST00000200647]
Predicted Effect probably benign
Transcript: ENSMUST00000048766
SMART Domains Protein: ENSMUSP00000037962
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 1 251 1.9e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000048915
AA Change: F149I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044548
Gene: ENSMUSG00000038374
AA Change: F149I

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: ENSMUST00000118557
SMART Domains Protein: ENSMUSP00000113365
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 1 251 8.3e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137564
SMART Domains Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447

DomainStartEndE-ValueType
Pfam:PEX11 1 172 4.5e-57 PFAM
low complexity region 186 204 N/A INTRINSIC
Int_alpha 222 278 9.03e-3 SMART
Blast:VWA 292 345 3e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144962
Predicted Effect probably benign
Transcript: ENSMUST00000156015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160818
Predicted Effect probably benign
Transcript: ENSMUST00000165842
SMART Domains Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 3 237 8.9e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196456
AA Change: F150I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143190
Gene: ENSMUSG00000038374
AA Change: F150I

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 probably damaging
Transcript: ENSMUST00000198027
AA Change: F161I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143346
Gene: ENSMUSG00000038374
AA Change: F161I

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 damaging
Transcript: ENSMUST00000200647
AA Change: F101I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142699
Gene: ENSMUSG00000038374
AA Change: F101I

DomainStartEndE-ValueType
RRM 25 98 3.5e-24 SMART
low complexity region 103 125 N/A INTRINSIC
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,290,339 N734I probably damaging Het
Abi1 T C 2: 22,946,717 I371V probably benign Het
Atp8b3 A G 10: 80,520,011 F1289S probably benign Het
Brca2 T A 5: 150,531,061 probably null Het
C8a A T 4: 104,845,942 I306N probably benign Het
Crybg3 G T 16: 59,524,853 probably benign Het
Disp2 T A 2: 118,787,264 probably benign Het
Dtl A G 1: 191,548,303 F373S probably damaging Het
Dynlt1a G A 17: 6,310,872 probably null Het
Dyrk1a G A 16: 94,659,617 R44H probably benign Het
Fam114a2 C T 11: 57,513,635 probably null Het
Fsip2 A G 2: 82,978,347 E1670G possibly damaging Het
Gbp10 A T 5: 105,217,359 N594K probably benign Het
Gpam T A 19: 55,075,625 K679* probably null Het
Gtf2i A T 5: 134,249,950 V524E probably damaging Het
Itpr2 T A 6: 146,227,581 E2011D probably damaging Het
Jag1 C A 2: 137,115,484 G103W probably damaging Het
Klkb1 A T 8: 45,276,053 V378E probably benign Het
Lyst T A 13: 13,637,803 S933R probably damaging Het
Man2b2 T C 5: 36,814,516 S619G probably benign Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Mtf2 A G 5: 108,087,325 I36V probably benign Het
Nckipsd T C 9: 108,817,554 Y652H probably damaging Het
Olfr1136 T C 2: 87,693,745 I46V possibly damaging Het
Olfr870 A G 9: 20,171,295 I92T probably damaging Het
Olfr968 A T 9: 39,772,694 Y35* probably null Het
Olfr994 A G 2: 85,430,154 L225P probably damaging Het
Phykpl T C 11: 51,599,524 F411L probably benign Het
Rbp3 G T 14: 33,955,300 G402W probably damaging Het
Recql4 G A 15: 76,708,870 R254* probably null Het
Rsph14 G A 10: 74,957,786 probably benign Het
Stau2 A T 1: 16,440,315 probably null Het
Tmprss11c G A 5: 86,237,662 S304L possibly damaging Het
Vipr1 T G 9: 121,661,440 M184R possibly damaging Het
Zfp106 G A 2: 120,533,671 R752C probably damaging Het
Other mutations in Rbm8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1616:Rbm8a UTSW 3 96631730 utr 3 prime probably benign
R4706:Rbm8a UTSW 3 96630052 unclassified probably benign
R5186:Rbm8a UTSW 3 96630932 missense probably damaging 0.99
Posted On2014-02-04