Incidental Mutation 'IGL02345:Sugp1'
ID 289259
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 # IGL02345
Quality Score
Status
Chromosome 8
Chromosomal Location 70495463-70524997 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 70495734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000050561] [ENSMUST00000168013] [ENSMUST00000212308] [ENSMUST00000212845] [ENSMUST00000212451]
AlphaFold Q8CH02
Predicted Effect probably benign
Transcript: ENSMUST00000011450
SMART Domains Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306

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 probably benign
Transcript: ENSMUST00000050561
SMART Domains Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858

DomainStartEndE-ValueType
Pfam:Cohesin_load 29 575 5e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168013
SMART Domains Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858

DomainStartEndE-ValueType
Pfam:Cohesin_load 29 576 8.7e-130 PFAM
Pfam:TPR_8 71 105 3.3e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212055
Predicted Effect probably benign
Transcript: ENSMUST00000212308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213035
Predicted Effect probably benign
Transcript: ENSMUST00000212845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212401
Predicted Effect probably benign
Transcript: ENSMUST00000212451
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,214,215 (GRCm39) D177Y possibly damaging Het
Casc3 T C 11: 98,718,390 (GRCm39) probably benign Het
Catspere2 G A 1: 177,842,754 (GRCm39) V60I possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Dcun1d4 A G 5: 73,668,495 (GRCm39) D41G probably damaging Het
Dnm1l T C 16: 16,147,758 (GRCm39) S181G possibly damaging Het
Dyrk1a T G 16: 94,472,221 (GRCm39) S242A possibly damaging Het
Fcgbp T A 7: 27,771,068 (GRCm39) probably benign Het
Fibcd1 T C 2: 31,706,604 (GRCm39) Y409C probably damaging Het
Fig4 A T 10: 41,143,770 (GRCm39) W230R probably null Het
Flt1 T C 5: 147,519,436 (GRCm39) S960G probably benign Het
Fyb1 A G 15: 6,649,143 (GRCm39) S390G possibly damaging Het
Gbx2 T C 1: 89,856,698 (GRCm39) T231A probably benign Het
Gm5852 T A 3: 93,635,055 (GRCm39) noncoding transcript Het
Lmo7 T C 14: 102,124,909 (GRCm39) V456A probably damaging Het
Mark3 A G 12: 111,593,541 (GRCm39) N191S probably damaging Het
Or7h8 C A 9: 20,124,314 (GRCm39) S223Y possibly damaging Het
Pik3c2a C T 7: 116,005,126 (GRCm39) E381K probably damaging Het
Pik3r5 A G 11: 68,383,552 (GRCm39) D457G probably benign Het
Plcg2 T C 8: 118,311,919 (GRCm39) S404P probably damaging Het
Prr16 T C 18: 51,436,301 (GRCm39) F260S probably damaging Het
Psd4 T C 2: 24,291,835 (GRCm39) probably null Het
Ptgs1 A G 2: 36,132,983 (GRCm39) D327G probably null Het
Rgsl1 C T 1: 153,679,755 (GRCm39) probably null Het
Spart T A 3: 55,025,147 (GRCm39) probably null Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Usp19 A G 9: 108,371,057 (GRCm39) T240A probably benign Het
Vash2 A G 1: 190,710,412 (GRCm39) V81A probably benign Het
Vmn2r41 T G 7: 8,141,767 (GRCm39) N566H probably damaging Het
Wdr31 A G 4: 62,377,083 (GRCm39) I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 (GRCm39) V1272I possibly damaging Het
Zfp638 C T 6: 83,961,857 (GRCm39) R1899C probably damaging Het
Other mutations in Sugp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02532:Sugp1 APN 8 70,512,469 (GRCm39) missense possibly damaging 0.91
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