Incidental Mutation 'IGL03383:Sugp1'
ID420791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sugp1
Ensembl Gene ENSMUSG00000011306
Gene NameSURP and G patch domain containing 1
SynonymsSf4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock #IGL03383
Quality Score
Status
Chromosome8
Chromosomal Location70042813-70072347 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 70069567 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000049197] [ENSMUST00000110160]
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: ENSMUST00000049197
SMART Domains Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 64 84 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 171 190 N/A INTRINSIC
Pfam:DUF2781 216 357 4e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110160
SMART Domains Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 64 84 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 171 190 N/A INTRINSIC
Pfam:DUF2781 218 357 1.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211808
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxf1 T C 19: 8,763,697 F15L probably damaging Het
Nxpe3 T C 16: 55,849,713 D343G probably benign Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Polr3k A G 2: 181,866,027 T65A probably damaging Het
Preb A T 5: 30,958,321 W222R probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Rtkn2 A G 10: 68,017,837 T232A probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Stard10 A G 7: 101,342,570 K112E probably damaging Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Wee1 A G 7: 110,139,692 N590S probably damaging Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Sugp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02345:Sugp1 APN 8 70043084 unclassified probably benign
IGL02532:Sugp1 APN 8 70059819 missense possibly damaging 0.91
IGL02887:Sugp1 APN 8 70070126 missense probably damaging 1.00
IGL02962:Sugp1 APN 8 70059862 splice site probably benign
IGL02966:Sugp1 APN 8 70071108 unclassified probably benign
R0348:Sugp1 UTSW 8 70070008 missense probably damaging 1.00
R0376:Sugp1 UTSW 8 70052638 missense probably damaging 1.00
R0511:Sugp1 UTSW 8 70059363 missense probably damaging 1.00
R1930:Sugp1 UTSW 8 70071540 missense probably benign 0.05
R1931:Sugp1 UTSW 8 70071540 missense probably benign 0.05
R1933:Sugp1 UTSW 8 70056575 missense possibly damaging 0.92
R1934:Sugp1 UTSW 8 70056575 missense possibly damaging 0.92
R2391:Sugp1 UTSW 8 70059411 splice site probably null
R2484:Sugp1 UTSW 8 70069524 missense possibly damaging 0.89
R4500:Sugp1 UTSW 8 70056388 missense probably benign
R4876:Sugp1 UTSW 8 70071184 missense probably damaging 0.99
R5120:Sugp1 UTSW 8 70048667 missense probably benign 0.02
R5724:Sugp1 UTSW 8 70070149 missense probably damaging 0.98
R6736:Sugp1 UTSW 8 70059303 missense probably benign 0.44
R6967:Sugp1 UTSW 8 70060552 missense possibly damaging 0.79
R7107:Sugp1 UTSW 8 70070150 missense probably benign 0.00
R7388:Sugp1 UTSW 8 70052619 missense probably damaging 0.98
R7949:Sugp1 UTSW 8 70056503 missense possibly damaging 0.48
R8354:Sugp1 UTSW 8 70071597 nonsense probably null
R8398:Sugp1 UTSW 8 70071133 missense probably damaging 1.00
R8454:Sugp1 UTSW 8 70071597 nonsense probably null
Posted On2016-08-02