Incidental Mutation 'IGL02966:Sugp1'
ID 365621
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 # IGL02966
Quality Score
Status
Chromosome 8
Chromosomal Location 70495463-70524997 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 70523758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000049197] [ENSMUST00000110160]
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: 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: ENSMUST00000149928
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 80,463,317 (GRCm39) Y797N possibly damaging Het
Actbl2 G A 13: 111,392,106 (GRCm39) G147E probably damaging Het
Adam18 A T 8: 25,101,165 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,880,556 (GRCm39) V175I probably benign Het
Alox12 T A 11: 70,140,911 (GRCm39) T375S probably damaging Het
Batf2 C A 19: 6,221,819 (GRCm39) Q210K probably damaging Het
Bicd1 T C 6: 149,385,494 (GRCm39) S76P probably damaging Het
Bphl A T 13: 34,247,980 (GRCm39) H251L probably damaging Het
C130074G19Rik C A 1: 184,614,943 (GRCm39) E82D probably damaging Het
Calu A T 6: 29,356,584 (GRCm39) K39* probably null Het
Capns1 T C 7: 29,891,618 (GRCm39) D142G probably damaging Het
Ccr8 T C 9: 119,923,206 (GRCm39) V107A probably damaging Het
Cep170b G A 12: 112,702,878 (GRCm39) G447D possibly damaging Het
Chat C T 14: 32,170,903 (GRCm39) V199M probably damaging Het
Cntnap1 G T 11: 101,075,575 (GRCm39) V918L probably damaging Het
Cyp27a1 A G 1: 74,771,249 (GRCm39) T145A probably benign Het
Dgkq T A 5: 108,804,287 (GRCm39) probably null Het
Dnhd1 A G 7: 105,369,948 (GRCm39) I4458V probably benign Het
Enpp1 T A 10: 24,536,172 (GRCm39) E409D probably damaging Het
Fam78b G T 1: 166,906,457 (GRCm39) L205F probably damaging Het
Foxr2 C A X: 151,913,677 (GRCm39) R183S probably damaging Het
Ganc T C 2: 120,264,129 (GRCm39) S361P probably damaging Het
Gfra4 C A 2: 130,884,560 (GRCm39) A15S possibly damaging Het
Gm8011 A T 14: 42,287,957 (GRCm39) D145V unknown Het
Gnb4 A G 3: 32,639,372 (GRCm39) V307A probably benign Het
Hdac4 A T 1: 91,982,667 (GRCm39) V17E possibly damaging Het
Herc6 G A 6: 57,560,318 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,383 (GRCm39) T1945A probably benign Het
Ica1l A T 1: 60,049,298 (GRCm39) N218K probably damaging Het
Kmt2b A T 7: 30,274,887 (GRCm39) L1939Q probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Marchf8 C T 6: 116,380,499 (GRCm39) R117C probably damaging Het
Megf6 T C 4: 154,338,234 (GRCm39) S327P probably damaging Het
Mocos T G 18: 24,809,668 (GRCm39) C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 (GRCm39) W14R probably benign Het
Mysm1 A T 4: 94,863,523 (GRCm39) D23E probably benign Het
Naa35 T A 13: 59,734,085 (GRCm39) D34E probably benign Het
Nid1 A G 13: 13,656,806 (GRCm39) I646V probably benign Het
Nupr1 T C 7: 126,224,073 (GRCm39) probably benign Het
Or2aj6 G T 16: 19,443,051 (GRCm39) H266Q probably damaging Het
Or5b24 A T 19: 12,912,164 (GRCm39) I21F probably benign Het
Or8b12b T G 9: 37,684,882 (GRCm39) L309R probably benign Het
Pcbp2 A C 15: 102,392,684 (GRCm39) probably benign Het
Pde8b T C 13: 95,232,156 (GRCm39) Q158R probably damaging Het
Pdzd8 T C 19: 59,289,291 (GRCm39) Y703C probably damaging Het
Plxnb3 T C X: 72,808,889 (GRCm39) S885P probably benign Het
Poc1b T A 10: 98,980,176 (GRCm39) C136S probably damaging Het
Pole2 T C 12: 69,256,649 (GRCm39) D292G probably damaging Het
Prpf39 T C 12: 65,089,553 (GRCm39) V97A probably benign Het
Rbbp8 T A 18: 11,838,869 (GRCm39) H183Q possibly damaging Het
Scn2a C T 2: 65,532,188 (GRCm39) T600M possibly damaging Het
Spata32 T C 11: 103,099,629 (GRCm39) Q292R possibly damaging Het
Sult3a1 A C 10: 33,753,269 (GRCm39) probably benign Het
Tpm3-rs7 C T 14: 113,552,810 (GRCm39) Q235* probably null Het
Trbv2 A T 6: 41,024,685 (GRCm39) T34S possibly damaging Het
Tssk6 A G 8: 70,355,535 (GRCm39) Y193C probably benign Het
Ttn T C 2: 76,538,802 (GRCm39) K34676R possibly damaging Het
Ugt3a1 T C 15: 9,370,154 (GRCm39) Y433H probably damaging Het
Wdhd1 T C 14: 47,479,101 (GRCm39) K1072E possibly damaging Het
Other mutations in Sugp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02345:Sugp1 APN 8 70,495,734 (GRCm39) unclassified probably benign
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
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 2015-12-18