Incidental Mutation 'R0469:Rbmx'
ID 43183
Institutional Source Beutler Lab
Gene Symbol Rbmx
Ensembl Gene ENSMUSG00000031134
Gene Name RNA binding motif protein, X chromosome
Synonyms
MMRRC Submission 038669-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0469 (G1)
Quality Score 189
Status Not validated
Chromosome X
Chromosomal Location 56428890-56438396 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 56436926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098470] [ENSMUST00000098470] [ENSMUST00000114726] [ENSMUST00000114730] [ENSMUST00000114730] [ENSMUST00000133346] [ENSMUST00000133346] [ENSMUST00000140384] [ENSMUST00000143310]
AlphaFold Q9WV02
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083176
Predicted Effect probably null
Transcript: ENSMUST00000098470
SMART Domains Protein: ENSMUSP00000096070
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 127 N/A INTRINSIC
low complexity region 148 171 N/A INTRINSIC
Pfam:RBM1CTR 173 217 1e-26 PFAM
Blast:RRM 222 253 7e-8 BLAST
low complexity region 257 274 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000098470
SMART Domains Protein: ENSMUSP00000096070
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 127 N/A INTRINSIC
low complexity region 148 171 N/A INTRINSIC
Pfam:RBM1CTR 173 217 1e-26 PFAM
Blast:RRM 222 253 7e-8 BLAST
low complexity region 257 274 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114726
SMART Domains Protein: ENSMUSP00000110374
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 127 N/A INTRINSIC
low complexity region 148 171 N/A INTRINSIC
Pfam:RBM1CTR 173 217 9.5e-26 PFAM
Blast:RRM 222 253 2e-7 BLAST
low complexity region 257 274 N/A INTRINSIC
low complexity region 303 341 N/A INTRINSIC
low complexity region 355 390 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114730
SMART Domains Protein: ENSMUSP00000110378
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 127 N/A INTRINSIC
low complexity region 148 171 N/A INTRINSIC
Pfam:RBM1CTR 173 217 3e-26 PFAM
Blast:RRM 222 253 2e-7 BLAST
low complexity region 257 274 N/A INTRINSIC
low complexity region 303 341 N/A INTRINSIC
low complexity region 355 390 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114730
SMART Domains Protein: ENSMUSP00000110378
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 127 N/A INTRINSIC
low complexity region 148 171 N/A INTRINSIC
Pfam:RBM1CTR 173 217 3e-26 PFAM
Blast:RRM 222 253 2e-7 BLAST
low complexity region 257 274 N/A INTRINSIC
low complexity region 303 341 N/A INTRINSIC
low complexity region 355 390 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000133346
SMART Domains Protein: ENSMUSP00000118121
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 103 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000133346
SMART Domains Protein: ENSMUSP00000118121
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 103 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140384
SMART Domains Protein: ENSMUSP00000125720
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
RRM 9 82 1.88e-28 SMART
low complexity region 91 127 N/A INTRINSIC
low complexity region 148 171 N/A INTRINSIC
Pfam:RBM1CTR 173 217 5.2e-26 PFAM
Blast:RRM 222 253 7e-8 BLAST
low complexity region 257 274 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143310
SMART Domains Protein: ENSMUSP00000138198
Gene: ENSMUSG00000031134

DomainStartEndE-ValueType
low complexity region 20 43 N/A INTRINSIC
Pfam:RBM1CTR 45 89 4.5e-26 PFAM
Blast:RRM 94 125 3e-7 BLAST
low complexity region 129 146 N/A INTRINSIC
low complexity region 175 213 N/A INTRINSIC
low complexity region 227 262 N/A INTRINSIC
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,125,482 (GRCm39) I67T probably damaging Het
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
Adam10 T A 9: 70,655,530 (GRCm39) W333R probably damaging Het
Ahnak C T 19: 8,995,596 (GRCm39) R5627* probably null Het
Alms1 A T 6: 85,597,351 (GRCm39) R1195* probably null Het
Arih2 T A 9: 108,482,291 (GRCm39) H490L possibly damaging Het
Arpc1b T A 5: 145,064,525 (GRCm39) W361R probably damaging Het
B3gntl1 A T 11: 121,563,851 (GRCm39) V3D probably benign Het
Baiap2l1 T C 5: 144,212,701 (GRCm39) Y438C probably damaging Het
Bicc1 C A 10: 70,915,045 (GRCm39) R73L probably benign Het
Ccdc110 T A 8: 46,388,194 (GRCm39) N50K probably benign Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cep76 A T 18: 67,767,850 (GRCm39) N227K probably benign Het
Col6a4 A T 9: 105,957,746 (GRCm39) V26D probably damaging Het
Cpe T A 8: 65,064,501 (GRCm39) I233F probably damaging Het
Cpsf2 T C 12: 101,955,045 (GRCm39) V272A probably damaging Het
Defa34 A G 8: 22,155,988 (GRCm39) probably null Het
Dnah12 A G 14: 26,520,856 (GRCm39) R1892G probably damaging Het
Efr3b G T 12: 4,032,058 (GRCm39) D183E probably benign Het
Epyc A G 10: 97,485,625 (GRCm39) T22A probably benign Het
Fam83a C A 15: 57,873,322 (GRCm39) Q384K probably benign Het
Fam83b G T 9: 76,400,108 (GRCm39) L332I possibly damaging Het
Ggn C T 7: 28,870,721 (GRCm39) P47S probably damaging Het
Gli3 T G 13: 15,899,370 (GRCm39) L919R probably damaging Het
Golgb1 A G 16: 36,751,997 (GRCm39) I3144V probably benign Het
Gpr108 T C 17: 57,542,358 (GRCm39) D549G possibly damaging Het
Gpr39 C T 1: 125,605,237 (GRCm39) T55M probably damaging Het
Grk4 A G 5: 34,873,557 (GRCm39) T208A probably damaging Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
H2-Eb2 C T 17: 34,553,218 (GRCm39) Q135* probably null Het
Hectd4 T A 5: 121,419,959 (GRCm39) Y635N possibly damaging Het
Hectd4 G A 5: 121,443,736 (GRCm39) E1319K possibly damaging Het
Hnrnph3 T A 10: 62,853,994 (GRCm39) R41S probably benign Het
Hnrnph3 T A 10: 62,855,279 (GRCm39) D2V probably damaging Het
Hs3st2 T C 7: 121,099,792 (GRCm39) S213P probably damaging Het
Ikbkb A T 8: 23,161,651 (GRCm39) C412* probably null Het
Kctd21 T C 7: 96,996,748 (GRCm39) F74L probably damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Lmtk3 T A 7: 45,443,536 (GRCm39) L740M possibly damaging Het
Lrrc10 T A 10: 116,881,695 (GRCm39) L123Q probably damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Mdn1 A G 4: 32,738,619 (GRCm39) N3524S probably benign Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Naca C T 10: 127,880,659 (GRCm39) A1897V probably benign Het
Or1j10 A T 2: 36,267,474 (GRCm39) I229F probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Or8b12i T C 9: 20,082,561 (GRCm39) Y102C probably benign Het
Pdzrn3 A T 6: 101,128,014 (GRCm39) I884N probably damaging Het
Phf24 G T 4: 42,933,761 (GRCm39) V48L possibly damaging Het
Pkn1 C A 8: 84,398,953 (GRCm39) C678F probably damaging Het
Pla2g4a T A 1: 149,716,398 (GRCm39) M688L possibly damaging Het
Ppp1r3c A T 19: 36,711,617 (GRCm39) F51Y possibly damaging Het
Psen2 T C 1: 180,066,479 (GRCm39) T153A probably damaging Het
Rbp3 A G 14: 33,684,376 (GRCm39) K1135R possibly damaging Het
Slco2b1 T A 7: 99,310,743 (GRCm39) M603L probably benign Het
Sncaip A G 18: 53,001,781 (GRCm39) T101A probably benign Het
Ssh1 A T 5: 114,084,766 (GRCm39) D448E probably benign Het
Ssmem1 A T 6: 30,519,547 (GRCm39) probably null Het
Stk11 T C 10: 79,961,920 (GRCm39) V47A probably damaging Het
Sv2b T G 7: 74,786,140 (GRCm39) M427L probably benign Het
Syne1 A G 10: 5,317,600 (GRCm39) L498P probably damaging Het
Syne2 T C 12: 75,900,923 (GRCm39) probably null Het
Taf6l G T 19: 8,755,885 (GRCm39) H254Q probably benign Het
Tas2r123 T C 6: 132,824,295 (GRCm39) V64A probably benign Het
Tm9sf1 A T 14: 55,878,886 (GRCm39) F169I possibly damaging Het
Tmpo A C 10: 90,998,958 (GRCm39) I276M probably benign Het
Tnnc1 A G 14: 30,933,365 (GRCm39) D149G probably damaging Het
Tpr AAGAGAGAGAGAGAG AAGAGAGAGAGAG 1: 150,299,418 (GRCm39) probably null Het
Traf3ip3 T A 1: 192,860,539 (GRCm39) probably null Het
Trim55 G T 3: 19,725,256 (GRCm39) V258L possibly damaging Het
Trpm1 G A 7: 63,873,506 (GRCm39) G587D probably damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ube2u A G 4: 100,343,870 (GRCm39) I90V probably benign Het
Upb1 T C 10: 75,250,917 (GRCm39) probably null Het
Vmn2r57 A T 7: 41,077,216 (GRCm39) S317T possibly damaging Het
Wdr73 G A 7: 80,547,698 (GRCm39) Q107* probably null Het
Zfp628 A T 7: 4,922,732 (GRCm39) Q318L probably benign Het
Other mutations in Rbmx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0184:Rbmx UTSW X 56,436,926 (GRCm39) critical splice donor site probably null
R9075:Rbmx UTSW X 56,432,717 (GRCm39) missense probably benign 0.03
X0065:Rbmx UTSW X 56,434,781 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCATCCTTTGCATCTGCTGGG -3'
(R):5'- AAATTGCGCTGCACTGTTAGCC -3'

Sequencing Primer
(F):5'- CTGCTGGGCTTTCAAAAGTGAC -3'
(R):5'- CTACCACACTTGAGGTTTATTGG -3'
Posted On 2013-05-23