Incidental Mutation 'IGL03004:Zrsr2'
ID 407486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zrsr2
Ensembl Gene ENSMUSG00000031370
Gene Name zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
Synonyms 35kDa, A230052C13Rik, 5031411E02Rik, U2af1-rs2
Accession Numbers
Essential gene? Not available question?
Stock # IGL03004
Quality Score
Status
Chromosome X
Chromosomal Location 162718439-162741657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162722397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 285 (Q285R)
Ref Sequence ENSEMBL: ENSMUSP00000107908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112289]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000112289
AA Change: Q285R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107908
Gene: ENSMUSG00000031370
AA Change: Q285R

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
coiled coil region 25 155 N/A INTRINSIC
ZnF_C3H1 171 197 2.61e-4 SMART
RRM 203 304 1.3e-2 SMART
ZnF_C3H1 310 336 1.06e-4 SMART
low complexity region 380 390 N/A INTRINSIC
low complexity region 401 414 N/A INTRINSIC
low complexity region 419 430 N/A INTRINSIC
low complexity region 439 531 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145962
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 an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrx A T X: 104,876,115 (GRCm39) C78* probably null Het
Birc6 T A 17: 74,919,180 (GRCm39) N1999K probably benign Het
Bltp1 T A 3: 37,019,826 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,413 (GRCm39) R313Q probably benign Het
Clip3 A G 7: 29,991,789 (GRCm39) Y55C probably damaging Het
Ddit4l A G 3: 137,331,966 (GRCm39) N111D probably benign Het
Eprs1 T G 1: 185,114,030 (GRCm39) M326R probably damaging Het
F8 C T X: 74,255,658 (GRCm39) G2045D probably damaging Het
Fstl5 A G 3: 76,555,738 (GRCm39) probably benign Het
Gm10577 T C 4: 100,877,526 (GRCm39) probably benign Het
Heatr6 T C 11: 83,648,205 (GRCm39) S133P probably benign Het
Itpr3 T G 17: 27,316,952 (GRCm39) F736V possibly damaging Het
Klf8 T C X: 152,165,716 (GRCm39) L95P probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Map3k12 A G 15: 102,412,631 (GRCm39) V247A possibly damaging Het
Obscn A G 11: 58,919,413 (GRCm39) Y6211H probably damaging Het
Or1j19 A G 2: 36,677,194 (GRCm39) Y219C probably damaging Het
Pip4k2b A G 11: 97,615,300 (GRCm39) Y187H probably damaging Het
Rabggta A G 14: 55,956,687 (GRCm39) probably benign Het
Ranbp3 T A 17: 57,014,207 (GRCm39) V246E probably damaging Het
Rtf1 C A 2: 119,531,754 (GRCm39) probably benign Het
Sema3b G A 9: 107,480,114 (GRCm39) P208L possibly damaging Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Spam1 T C 6: 24,796,913 (GRCm39) V288A probably damaging Het
Stac A C 9: 111,431,608 (GRCm39) S248A probably benign Het
Tmem178b C A 6: 40,222,515 (GRCm39) R77S probably damaging Het
Vegfd T C X: 163,185,104 (GRCm39) L352P probably benign Het
Vmn1r176 A T 7: 23,534,702 (GRCm39) N150K probably damaging Het
Vmn1r230 T C 17: 21,067,772 (GRCm39) probably benign Het
Vsig10 A G 5: 117,463,140 (GRCm39) Y122C probably damaging Het
Xpo5 T A 17: 46,518,766 (GRCm39) V121E probably damaging Het
Other mutations in Zrsr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Zrsr2 APN X 162,722,313 (GRCm39) missense probably benign 0.01
R9752:Zrsr2 UTSW X 162,719,750 (GRCm39) unclassified probably benign
Posted On 2016-08-02