Incidental Mutation 'IGL03260:Srpx'
ID 414787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srpx
Ensembl Gene ENSMUSG00000090084
Gene Name sushi-repeat-containing protein
Synonyms drs-1, drs-2
Accession Numbers
Essential gene? Not available question?
Stock # IGL03260
Quality Score
Status
Chromosome X
Chromosomal Location 9904216-9983879 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 9921987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 216 (K216*)
Ref Sequence ENSEMBL: ENSMUSP00000111206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044789] [ENSMUST00000115543] [ENSMUST00000115544]
AlphaFold Q9R0M3
Predicted Effect probably null
Transcript: ENSMUST00000044789
AA Change: K236*
SMART Domains Protein: ENSMUSP00000047926
Gene: ENSMUSG00000090084
AA Change: K236*

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CCP 57 115 1.69e-8 SMART
CCP 120 174 2.44e-14 SMART
Pfam:HYR 175 257 1.5e-30 PFAM
CCP 262 317 1.24e-15 SMART
Pfam:DUF4174 332 451 4.3e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115543
AA Change: K152*
SMART Domains Protein: ENSMUSP00000111205
Gene: ENSMUSG00000090084
AA Change: K152*

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CCP 36 90 2.44e-14 SMART
Pfam:HYR 91 173 2.5e-28 PFAM
CCP 178 233 1.24e-15 SMART
Pfam:DUF4174 247 368 2.6e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115544
AA Change: K216*
SMART Domains Protein: ENSMUSP00000111206
Gene: ENSMUSG00000090084
AA Change: K216*

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CCP 37 95 1.69e-8 SMART
CCP 100 154 2.44e-14 SMART
Pfam:HYR 155 237 2.1e-28 PFAM
CCP 242 297 1.24e-15 SMART
Pfam:DUF4174 311 432 2.1e-30 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice either heterozygous or homozygous for a knock-out allele display increased sensitivity to malignant tumor formation at 7-12 months of age. In addition, homozygotes exhibit atypical lymphocyte morphhology and splenomegaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik A G 10: 20,187,071 (GRCm39) probably benign Het
Abca12 A G 1: 71,323,258 (GRCm39) L1608P probably damaging Het
Akr1b8 G T 6: 34,340,394 (GRCm39) probably benign Het
Appbp2 A G 11: 85,107,283 (GRCm39) V69A probably benign Het
Ces1e T C 8: 93,950,545 (GRCm39) N79D probably benign Het
Cldn34b3 A G X: 75,310,479 (GRCm39) T16A probably damaging Het
Frmd4b A T 6: 97,373,185 (GRCm39) F103Y probably damaging Het
Ifi47 T C 11: 48,986,932 (GRCm39) F233S probably damaging Het
Igkv8-30 A T 6: 70,094,339 (GRCm39) M24K probably damaging Het
Krt72 C T 15: 101,686,708 (GRCm39) A413T probably damaging Het
Lingo4 A G 3: 94,309,250 (GRCm39) T63A probably benign Het
Naa35 T G 13: 59,775,699 (GRCm39) S125A probably benign Het
Or6c76 T C 10: 129,612,521 (GRCm39) V261A probably damaging Het
Or6z7 A T 7: 6,483,658 (GRCm39) C166S probably damaging Het
Padi1 T C 4: 140,555,505 (GRCm39) H240R probably benign Het
Ppp1r12a A G 10: 108,097,106 (GRCm39) T240A probably benign Het
Ppp2ca A G 11: 52,003,975 (GRCm39) N44S probably damaging Het
Prg4 T A 1: 150,331,378 (GRCm39) probably benign Het
Rab33a A G X: 47,608,545 (GRCm39) E23G probably benign Het
Scarb2 G T 5: 92,594,296 (GRCm39) A422E probably damaging Het
Scn4b A T 9: 45,058,987 (GRCm39) N86I probably damaging Het
Serpina1d G A 12: 103,730,108 (GRCm39) T358I probably damaging Het
Slc12a3 T A 8: 95,059,870 (GRCm39) I172N probably damaging Het
Slc18a1 T C 8: 69,527,766 (GRCm39) E15G probably benign Het
Snx7 A G 3: 117,575,942 (GRCm39) probably benign Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Unc13c A G 9: 73,838,626 (GRCm39) S742P probably benign Het
Vmn2r104 C T 17: 20,263,083 (GRCm39) C126Y probably benign Het
Vmn2r63 A T 7: 42,578,616 (GRCm39) N92K probably damaging Het
Other mutations in Srpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Srpx APN X 9,905,298 (GRCm39) missense probably damaging 0.97
IGL02138:Srpx APN X 9,933,662 (GRCm39) critical splice donor site probably null
IGL02953:Srpx APN X 9,983,706 (GRCm39) intron probably benign
Posted On 2016-08-02