Incidental Mutation 'R4565:Rbmxl1'
ID 343288
Institutional Source Beutler Lab
Gene Symbol Rbmxl1
Ensembl Gene ENSMUSG00000037070
Gene Name RNA binding motif protein, X-linked like-1
Synonyms Hnrpg, Rbmxrt, hnRNP G
MMRRC Submission 041790-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4565 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 79231898-79235527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79232639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 235 (P235S)
Ref Sequence ENSEMBL: ENSMUSP00000147384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000049245] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286] [ENSMUST00000211719]
AlphaFold Q91VM5
Predicted Effect probably benign
Transcript: ENSMUST00000034111
SMART Domains Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684

DomainStartEndE-ValueType
Pfam:SBF_like 10 324 1.9e-82 PFAM
Pfam:SBF 44 224 2.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049245
AA Change: P235S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048153
Gene: ENSMUSG00000037070
AA Change: P235S

DomainStartEndE-ValueType
RRM 9 82 2.31e-28 SMART
low complexity region 91 124 N/A INTRINSIC
low complexity region 145 168 N/A INTRINSIC
Pfam:RBM1CTR 170 214 5.5e-26 PFAM
low complexity region 215 231 N/A INTRINSIC
low complexity region 236 271 N/A INTRINSIC
low complexity region 300 338 N/A INTRINSIC
low complexity region 352 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209490
Predicted Effect probably benign
Transcript: ENSMUST00000209992
Predicted Effect probably benign
Transcript: ENSMUST00000210515
Predicted Effect probably benign
Transcript: ENSMUST00000210630
Predicted Effect probably benign
Transcript: ENSMUST00000211286
Predicted Effect probably benign
Transcript: ENSMUST00000211719
AA Change: P235S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211332
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,375,806 (GRCm39) probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Afg3l1 A T 8: 124,228,608 (GRCm39) K725* probably null Het
Alkbh1 T C 12: 87,478,236 (GRCm39) D225G probably damaging Het
Anxa2 A T 9: 69,397,019 (GRCm39) K241M probably damaging Het
Bptf G A 11: 106,963,836 (GRCm39) T1786M probably damaging Het
Cnst A G 1: 179,432,114 (GRCm39) E208G probably damaging Het
Dcdc2b T C 4: 129,504,778 (GRCm39) T118A probably benign Het
Dhx35 C A 2: 158,691,455 (GRCm39) A646E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnhd1 T A 7: 105,301,163 (GRCm39) D173E possibly damaging Het
Dpy19l1 A T 9: 24,343,684 (GRCm39) L487Q probably null Het
Gtse1 T G 15: 85,759,385 (GRCm39) V631G probably damaging Het
Haspin G A 11: 73,028,445 (GRCm39) L215F probably benign Het
Herc2 T C 7: 55,803,586 (GRCm39) V2207A possibly damaging Het
Jph1 A G 1: 17,074,426 (GRCm39) Y531H possibly damaging Het
Limk2 A G 11: 3,298,634 (GRCm39) I261T probably damaging Het
Oas3 A G 5: 120,909,104 (GRCm39) F281L probably damaging Het
Or2a25 A T 6: 42,888,472 (GRCm39) Q5L probably benign Het
Or7a40 C A 16: 16,491,557 (GRCm39) G96V probably damaging Het
Pcdhb17 A G 18: 37,619,523 (GRCm39) T438A probably benign Het
Pfdn5 T C 15: 102,235,220 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,680 (GRCm39) C158R possibly damaging Het
Slc9b1 G T 3: 135,088,478 (GRCm39) V280F probably damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Trpm3 T C 19: 22,965,233 (GRCm39) I1576T probably benign Het
Trpm6 T A 19: 18,803,236 (GRCm39) V893D probably damaging Het
Ttc13 A T 8: 125,408,826 (GRCm39) N583K probably damaging Het
Zfp618 T C 4: 63,039,588 (GRCm39) C396R probably damaging Het
Other mutations in Rbmxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Rbmxl1 APN 8 79,232,459 (GRCm39) nonsense probably null
R1735:Rbmxl1 UTSW 8 79,232,711 (GRCm39) missense probably damaging 1.00
R5781:Rbmxl1 UTSW 8 79,232,270 (GRCm39) unclassified probably benign
R6093:Rbmxl1 UTSW 8 79,232,572 (GRCm39) missense probably damaging 1.00
R7028:Rbmxl1 UTSW 8 79,233,286 (GRCm39) missense probably damaging 1.00
R7737:Rbmxl1 UTSW 8 79,232,252 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGTGAGCTGCTGTAATCATCATAG -3'
(R):5'- AAGAACACCAGTGTCCCGTG -3'

Sequencing Primer
(F):5'- GCTGCTGTAATCATCATAGCGACTG -3'
(R):5'- TGTCCCGTGGAAGAGATAGCTAC -3'
Posted On 2015-09-24