Incidental Mutation 'R0348:Sugp1'
ID 35995
Institutional Source Beutler Lab
Gene Symbol Sugp1
Ensembl Gene ENSMUSG00000011306
Gene Name SURP and G patch domain containing 1
Synonyms Sf4
MMRRC Submission 038555-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0348 (G1)
Quality Score 131
Status Not validated
Chromosome 8
Chromosomal Location 70495463-70524997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70522658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 453 (Y453N)
Ref Sequence ENSEMBL: ENSMUSP00000011450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000049197] [ENSMUST00000110160]
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 probably damaging
Transcript: ENSMUST00000011450
AA Change: Y453N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306
AA Change: Y453N

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,844,987 (GRCm39) D34G probably benign Het
Adam6a T C 12: 113,508,337 (GRCm39) S237P probably damaging Het
Adamts13 A C 2: 26,871,092 (GRCm39) D235A probably benign Het
Adgb T A 10: 10,233,623 (GRCm39) M1259L probably benign Het
Apbb1 T C 7: 105,214,510 (GRCm39) Q529R probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camta1 T C 4: 151,670,888 (GRCm39) T96A possibly damaging Het
Ccdc148 A T 2: 58,894,084 (GRCm39) probably null Het
Cep170b T C 12: 112,703,240 (GRCm39) Y568H probably damaging Het
Clca4b A T 3: 144,627,741 (GRCm39) I410N probably damaging Het
Cnot10 G A 9: 114,427,838 (GRCm39) T592I probably benign Het
Col6a3 C T 1: 90,755,771 (GRCm39) A173T probably damaging Het
Ctcf T A 8: 106,402,789 (GRCm39) C560* probably null Het
Daglb G A 5: 143,472,951 (GRCm39) V369I probably benign Het
Defb19 G A 2: 152,422,146 (GRCm39) L8F unknown Het
Emcn G T 3: 137,078,608 (GRCm39) E65* probably null Het
Etl4 G T 2: 20,782,940 (GRCm39) R753L probably damaging Het
Fam151b T C 13: 92,586,689 (GRCm39) Y248C probably benign Het
Fmo1 T C 1: 162,663,704 (GRCm39) D275G probably benign Het
Gjd4 A G 18: 9,280,964 (GRCm39) V38A possibly damaging Het
Hivep1 T C 13: 42,311,855 (GRCm39) V1365A possibly damaging Het
Hivep2 T C 10: 14,005,702 (GRCm39) S767P possibly damaging Het
Hoxa6 T C 6: 52,183,548 (GRCm39) T166A possibly damaging Het
Ift80 G T 3: 68,843,232 (GRCm39) L367I probably benign Het
Igf2bp1 T C 11: 95,859,719 (GRCm39) N369S possibly damaging Het
Igsf11 C A 16: 38,829,179 (GRCm39) D24E probably benign Het
Ints5 C T 19: 8,873,114 (GRCm39) L358F probably damaging Het
Kbtbd3 A G 9: 4,330,519 (GRCm39) T298A possibly damaging Het
Kif28 C A 1: 179,558,818 (GRCm39) V297F probably damaging Het
Krt12 T C 11: 99,308,771 (GRCm39) Y422C probably damaging Het
Lig1 T A 7: 13,043,122 (GRCm39) W856R probably damaging Het
Liph C T 16: 21,786,730 (GRCm39) probably null Het
Lrig3 T A 10: 125,849,317 (GRCm39) C1012* probably null Het
Lrit1 A G 14: 36,782,182 (GRCm39) E285G probably damaging Het
Lrrc31 A G 3: 30,743,377 (GRCm39) V196A probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Mllt10 T C 2: 18,167,424 (GRCm39) Y372H probably damaging Het
Mrpl50 A T 4: 49,514,515 (GRCm39) V52E probably damaging Het
Mthfd1l T C 10: 4,006,766 (GRCm39) V676A probably damaging Het
Ncl C T 1: 86,284,362 (GRCm39) D245N possibly damaging Het
Neil1 A T 9: 57,054,065 (GRCm39) probably null Het
Nfatc3 A G 8: 106,818,827 (GRCm39) E515G probably damaging Het
Nlrp4b A G 7: 10,449,108 (GRCm39) E70G possibly damaging Het
Nme3 A T 17: 25,115,491 (GRCm39) I2F possibly damaging Het
Nup210 G A 6: 91,051,292 (GRCm39) H364Y probably benign Het
Nxpe3 T A 16: 55,686,898 (GRCm39) T37S probably benign Het
Olfm1 T A 2: 28,102,554 (GRCm39) M76K probably benign Het
Pgbd5 A T 8: 125,160,771 (GRCm39) V32E probably damaging Het
Plcb4 T C 2: 135,810,339 (GRCm39) M646T probably damaging Het
Plekha7 G A 7: 115,757,255 (GRCm39) P565L probably damaging Het
Poc5 A G 13: 96,535,374 (GRCm39) D213G probably null Het
Poli A G 18: 70,656,452 (GRCm39) I125T probably benign Het
Ppm1f T C 16: 16,721,254 (GRCm39) M1T probably null Het
Psmd7 T C 8: 108,307,523 (GRCm39) K320R unknown Het
Rabggtb A G 3: 153,615,954 (GRCm39) V128A probably damaging Het
Rasa2 A T 9: 96,454,012 (GRCm39) L308H probably damaging Het
Serpina1d C T 12: 103,730,034 (GRCm39) V383M probably benign Het
Sipa1l1 T C 12: 82,431,530 (GRCm39) probably null Het
Sos1 T C 17: 80,715,740 (GRCm39) T1006A probably benign Het
Taf3 A T 2: 10,047,455 (GRCm39) D64E probably benign Het
Tcf19 A T 17: 35,826,801 (GRCm39) probably null Het
Trim60 T A 8: 65,453,868 (GRCm39) H127L probably damaging Het
Tubb4a C T 17: 57,387,770 (GRCm39) V419M probably damaging Het
Vmn2r22 G T 6: 123,614,684 (GRCm39) T302K probably damaging Het
Vmn2r68 T G 7: 84,870,884 (GRCm39) T800P possibly damaging Het
Zfhx2 A C 14: 55,300,965 (GRCm39) V2262G probably 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
IGL02966:Sugp1 APN 8 70,523,758 (GRCm39) unclassified probably benign
IGL03383:Sugp1 APN 8 70,522,217 (GRCm39) unclassified probably benign
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
Predicted Primers PCR Primer
(F):5'- TAAGGCCACAGGCAGGTAACTCAG -3'
(R):5'- GGTAAGTGGGGTTCACCCTCTTTTC -3'

Sequencing Primer
(F):5'- AGTGCTATCTGAGGAGTCCCTAAC -3'
(R):5'- TCATGTCCCACATACCCCG -3'
Posted On 2013-05-09