Incidental Mutation 'IGL02532:Sugp1'
ID 297357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sugp1
Ensembl Gene ENSMUSG00000011306
Gene Name SURP and G patch domain containing 1
Synonyms Sf4
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL02532
Quality Score
Status
Chromosome 8
Chromosomal Location 70495463-70524997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70512469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 239 (K239N)
Ref Sequence ENSEMBL: ENSMUSP00000011450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011450]
AlphaFold Q8CH02
PDB Structure Solution structure of SURP domain in BAB30904 [SOLUTION NMR]
Solution structure of SURP domain in splicing factor 4 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000011450
AA Change: K239N

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306
AA Change: K239N

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
SWAP 185 239 8e-20 SMART
SWAP 260 314 4.09e-17 SMART
low complexity region 344 365 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
G_patch 558 605 3.25e-17 SMART
low complexity region 628 643 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213035
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik T C 7: 28,947,645 (GRCm39) K15E possibly damaging Het
Abca2 A G 2: 25,325,148 (GRCm39) T381A probably benign Het
Adcy1 T A 11: 7,094,737 (GRCm39) N554K probably benign Het
Adcy5 A G 16: 35,092,453 (GRCm39) I605V possibly damaging Het
Arhgap11a G T 2: 113,664,021 (GRCm39) S754* probably null Het
Arhgef28 T A 13: 98,166,391 (GRCm39) D319V probably damaging Het
Brca2 A G 5: 150,474,327 (GRCm39) D2410G probably damaging Het
Carmil2 T A 8: 106,419,063 (GRCm39) probably null Het
Catip A G 1: 74,403,775 (GRCm39) N189S probably damaging Het
Cd177 T C 7: 24,444,674 (GRCm39) K636E probably benign Het
Cep290 A G 10: 100,380,927 (GRCm39) T145A probably benign Het
Cthrc1 T C 15: 38,940,560 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fas C A 19: 34,293,999 (GRCm39) T118N probably damaging Het
Fgd3 G A 13: 49,439,237 (GRCm39) A253V probably damaging Het
Fig4 A G 10: 41,161,277 (GRCm39) probably benign Het
Fubp3 T C 2: 31,490,571 (GRCm39) probably benign Het
Gria2 T A 3: 80,614,306 (GRCm39) E578V probably damaging Het
Gtpbp1 T A 15: 79,604,278 (GRCm39) V662E probably benign Het
Hbb-bt T C 7: 103,463,081 (GRCm39) probably benign Het
Ighv6-5 T A 12: 114,380,424 (GRCm39) D50V probably benign Het
Inpp5k T C 11: 75,524,010 (GRCm39) probably benign Het
Kalrn T C 16: 34,181,216 (GRCm39) N141D probably damaging Het
Kbtbd8 A G 6: 95,103,517 (GRCm39) T389A probably benign Het
Klhl6 C A 16: 19,775,832 (GRCm39) R242L possibly damaging Het
Kmt2b T C 7: 30,286,314 (GRCm39) probably benign Het
Krt13 A T 11: 100,010,195 (GRCm39) L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 (GRCm39) K270E possibly damaging Het
Mroh7 A G 4: 106,577,788 (GRCm39) S297P probably benign Het
Ndufs1 G A 1: 63,209,298 (GRCm39) R22C probably damaging Het
Nlrp5 T A 7: 23,109,398 (GRCm39) S115T possibly damaging Het
Nup50l A C 6: 96,141,771 (GRCm39) S424R probably damaging Het
Pfpl A T 19: 12,406,209 (GRCm39) R153S probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Psme1 T A 14: 55,818,595 (GRCm39) Y223* probably null Het
R3hdm1 T C 1: 128,124,836 (GRCm39) probably null Het
Rnf103 A G 6: 71,486,809 (GRCm39) D480G probably benign Het
Rnf103 T G 6: 71,486,636 (GRCm39) S422R probably damaging Het
Rps6ka2 T C 17: 7,523,365 (GRCm39) V213A probably damaging Het
Sort1 G T 3: 108,233,036 (GRCm39) K203N probably benign Het
Sult2a8 C T 7: 14,150,183 (GRCm39) R176K probably benign Het
Usp34 T A 11: 23,320,291 (GRCm39) N888K probably damaging Het
Vmn1r4 A C 6: 56,934,135 (GRCm39) H213P possibly damaging Het
Wdr45b G T 11: 121,219,639 (GRCm39) T303K probably benign Het
Other mutations in Sugp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02345:Sugp1 APN 8 70,495,734 (GRCm39) unclassified probably benign
IGL02887:Sugp1 APN 8 70,522,776 (GRCm39) missense probably damaging 1.00
IGL02962:Sugp1 APN 8 70,512,512 (GRCm39) splice site probably benign
IGL02966:Sugp1 APN 8 70,523,758 (GRCm39) unclassified probably benign
IGL03383:Sugp1 APN 8 70,522,217 (GRCm39) unclassified probably benign
R0348:Sugp1 UTSW 8 70,522,658 (GRCm39) missense probably damaging 1.00
R0376:Sugp1 UTSW 8 70,505,288 (GRCm39) missense probably damaging 1.00
R0511:Sugp1 UTSW 8 70,512,013 (GRCm39) missense probably damaging 1.00
R1930:Sugp1 UTSW 8 70,524,190 (GRCm39) missense probably benign 0.05
R1931:Sugp1 UTSW 8 70,524,190 (GRCm39) missense probably benign 0.05
R1933:Sugp1 UTSW 8 70,509,225 (GRCm39) missense possibly damaging 0.92
R1934:Sugp1 UTSW 8 70,509,225 (GRCm39) missense possibly damaging 0.92
R2391:Sugp1 UTSW 8 70,512,061 (GRCm39) splice site probably null
R2484:Sugp1 UTSW 8 70,522,174 (GRCm39) missense possibly damaging 0.89
R4500:Sugp1 UTSW 8 70,509,038 (GRCm39) missense probably benign
R4876:Sugp1 UTSW 8 70,523,834 (GRCm39) missense probably damaging 0.99
R5120:Sugp1 UTSW 8 70,501,317 (GRCm39) missense probably benign 0.02
R5724:Sugp1 UTSW 8 70,522,799 (GRCm39) missense probably damaging 0.98
R6736:Sugp1 UTSW 8 70,511,953 (GRCm39) missense probably benign 0.44
R6967:Sugp1 UTSW 8 70,513,202 (GRCm39) missense possibly damaging 0.79
R7107:Sugp1 UTSW 8 70,522,800 (GRCm39) missense probably benign 0.00
R7388:Sugp1 UTSW 8 70,505,269 (GRCm39) missense probably damaging 0.98
R7949:Sugp1 UTSW 8 70,509,153 (GRCm39) missense possibly damaging 0.48
R8354:Sugp1 UTSW 8 70,524,247 (GRCm39) nonsense probably null
R8398:Sugp1 UTSW 8 70,523,783 (GRCm39) missense probably damaging 1.00
R8454:Sugp1 UTSW 8 70,524,247 (GRCm39) nonsense probably null
R9269:Sugp1 UTSW 8 70,509,220 (GRCm39) missense probably benign 0.01
R9654:Sugp1 UTSW 8 70,522,656 (GRCm39) missense probably damaging 1.00
R9738:Sugp1 UTSW 8 70,505,256 (GRCm39) missense probably benign 0.00
R9799:Sugp1 UTSW 8 70,523,068 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16