Incidental Mutation 'R5966:Sugp2'
ID 472103
Institutional Source Beutler Lab
Gene Symbol Sugp2
Ensembl Gene ENSMUSG00000036054
Gene Name SURP and G patch domain containing 2
Synonyms Srsf14, Sfrs14
MMRRC Submission 044151-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5966 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 70686838-70715755 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 70704753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093458] [ENSMUST00000131489] [ENSMUST00000164403]
AlphaFold Q8CH09
Predicted Effect probably null
Transcript: ENSMUST00000093458
SMART Domains Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054

DomainStartEndE-ValueType
SWAP 570 622 3.74e-2 SMART
SWAP 768 822 1.12e-14 SMART
low complexity region 859 888 N/A INTRINSIC
G_patch 994 1040 1.13e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131489
SMART Domains Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054

DomainStartEndE-ValueType
SWAP 570 622 3.74e-2 SMART
SWAP 768 822 1.12e-14 SMART
low complexity region 859 888 N/A INTRINSIC
G_patch 994 1040 1.13e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156330
Predicted Effect probably null
Transcript: ENSMUST00000164403
SMART Domains Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054

DomainStartEndE-ValueType
SWAP 570 622 3.74e-2 SMART
SWAP 768 822 1.12e-14 SMART
low complexity region 859 888 N/A INTRINSIC
G_patch 994 1040 1.13e-16 SMART
Meta Mutation Damage Score 0.9588 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 94% (79/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A T 10: 115,415,717 (GRCm39) probably benign Het
Acaa2 T C 18: 74,937,223 (GRCm39) L369S probably damaging Het
Akna A G 4: 63,313,140 (GRCm39) S328P probably damaging Het
Albfm1 A G 5: 90,719,546 (GRCm39) Y214C probably damaging Het
Apc A G 18: 34,354,140 (GRCm39) probably benign Het
Brca2 C T 5: 150,466,716 (GRCm39) T2160I probably damaging Het
Camsap2 A G 1: 136,204,330 (GRCm39) S1251P probably damaging Het
Ccdc110 A G 8: 46,395,573 (GRCm39) E488G probably damaging Het
Ccdc158 T A 5: 92,797,908 (GRCm39) I411F probably damaging Het
Cd163 C T 6: 124,297,595 (GRCm39) Q914* probably null Het
Cd22 T C 7: 30,566,083 (GRCm39) D827G probably damaging Het
Ces1e A G 8: 93,946,001 (GRCm39) probably null Het
Col14a1 T C 15: 55,315,779 (GRCm39) probably null Het
Csmd3 T A 15: 47,713,135 (GRCm39) D1509V probably damaging Het
Ddx51 A G 5: 110,804,717 (GRCm39) D543G probably damaging Het
Diaph3 T A 14: 87,222,261 (GRCm39) I408F probably damaging Het
Dld G A 12: 31,390,325 (GRCm39) P213L probably damaging Het
Dnah6 T C 6: 73,037,262 (GRCm39) T3327A probably benign Het
Dnttip2 T A 3: 122,078,817 (GRCm39) probably benign Het
Dock10 T C 1: 80,546,225 (GRCm39) E791G possibly damaging Het
Ehd3 G T 17: 74,134,356 (GRCm39) W238C probably damaging Het
Ehd3 T G 17: 74,134,361 (GRCm39) L240R probably damaging Het
Ep400 A G 5: 110,824,766 (GRCm39) V2357A unknown Het
Fam20c T C 5: 138,741,932 (GRCm39) V181A probably damaging Het
Gm4781 T C 10: 100,232,814 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,058 (GRCm39) S827T unknown Het
Grm3 A T 5: 9,561,930 (GRCm39) I640N probably damaging Het
Gstm7 A G 3: 107,838,747 (GRCm39) probably benign Het
Hdac7 G T 15: 97,700,372 (GRCm39) H572Q probably damaging Het
Ift140 C T 17: 25,313,735 (GRCm39) Q1389* probably null Het
Igfn1 A G 1: 135,893,152 (GRCm39) V2099A probably damaging Het
Ik A G 18: 36,888,531 (GRCm39) N443S possibly damaging Het
Impact A G 18: 13,123,601 (GRCm39) K315E probably benign Het
Insr C A 8: 3,308,697 (GRCm39) R113L probably benign Het
Jak2 T A 19: 29,260,954 (GRCm39) Y317N possibly damaging Het
Kif18a T A 2: 109,122,411 (GRCm39) V162E probably damaging Het
L3mbtl3 A G 10: 26,207,762 (GRCm39) V319A unknown Het
Lepr T C 4: 101,649,324 (GRCm39) probably benign Het
Lmo7 C T 14: 102,137,938 (GRCm39) T647I possibly damaging Het
Mindy3 C T 2: 12,405,854 (GRCm39) R147Q probably benign Het
Mtr T C 13: 12,230,453 (GRCm39) probably null Het
Muc4 A T 16: 32,576,652 (GRCm39) probably benign Het
Nrip1 G A 16: 76,090,471 (GRCm39) T362M possibly damaging Het
Or1j17 G T 2: 36,578,074 (GRCm39) R20L probably null Het
Or1q1 T C 2: 36,886,957 (GRCm39) I45T possibly damaging Het
Or5d45 A G 2: 88,153,222 (GRCm39) S276P probably benign Het
Ovol1 G A 19: 5,601,630 (GRCm39) R131C probably damaging Het
Pcca T C 14: 122,905,998 (GRCm39) V323A probably damaging Het
Pcdhb14 A T 18: 37,581,295 (GRCm39) M134L probably benign Het
Pecam1 G A 11: 106,581,887 (GRCm39) T252M probably benign Het
Rnd3 T A 2: 51,022,536 (GRCm39) I169F probably damaging Het
Rnmt T A 18: 68,444,689 (GRCm39) D219E probably benign Het
Rufy1 A T 11: 50,292,315 (GRCm39) F491L probably benign Het
Ryr2 G T 13: 11,677,124 (GRCm39) C3242* probably null Het
Smurf2 G T 11: 106,766,727 (GRCm39) R31S possibly damaging Het
Sptbn1 A G 11: 30,074,873 (GRCm39) I1333T probably damaging Het
Stard9 G A 2: 120,527,580 (GRCm39) C1279Y probably damaging Het
Sulf1 A T 1: 12,929,636 (GRCm39) D301V probably benign Het
Tbcd G T 11: 121,492,737 (GRCm39) probably benign Het
Tlr11 T C 14: 50,599,712 (GRCm39) I566T probably benign Het
Tm9sf2 T A 14: 122,374,921 (GRCm39) probably benign Het
Tnfaip8l1 T C 17: 56,478,799 (GRCm39) F30L probably benign Het
Trav15-2-dv6-2 T A 14: 53,887,433 (GRCm39) C118S probably damaging Het
Ttc13 A G 8: 125,408,959 (GRCm39) probably benign Het
Ubqln3 A T 7: 103,790,906 (GRCm39) S395T probably benign Het
Urb2 A G 8: 124,754,827 (GRCm39) D178G probably benign Het
Usf3 A G 16: 44,041,222 (GRCm39) I1901V probably benign Het
Vmn1r173 A T 7: 23,402,112 (GRCm39) I116F probably benign Het
Vmn1r69 T A 7: 10,314,717 (GRCm39) T5S probably benign Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Wfikkn2 C T 11: 94,129,688 (GRCm39) R151H probably damaging Het
Other mutations in Sugp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Sugp2 APN 8 70,695,185 (GRCm39) missense probably damaging 1.00
IGL01126:Sugp2 APN 8 70,704,524 (GRCm39) missense probably damaging 1.00
IGL01154:Sugp2 APN 8 70,695,349 (GRCm39) missense probably damaging 1.00
IGL02037:Sugp2 APN 8 70,712,324 (GRCm39) splice site probably benign
IGL02401:Sugp2 APN 8 70,695,821 (GRCm39) missense possibly damaging 0.75
IGL02738:Sugp2 APN 8 70,696,449 (GRCm39) missense probably damaging 1.00
IGL03060:Sugp2 APN 8 70,695,837 (GRCm39) missense possibly damaging 0.89
PIT4687001:Sugp2 UTSW 8 70,710,162 (GRCm39) missense probably damaging 0.96
PIT4791001:Sugp2 UTSW 8 70,713,195 (GRCm39) nonsense probably null
R0538:Sugp2 UTSW 8 70,711,598 (GRCm39) missense probably damaging 1.00
R1459:Sugp2 UTSW 8 70,696,714 (GRCm39) splice site probably benign
R1687:Sugp2 UTSW 8 70,695,284 (GRCm39) missense probably damaging 1.00
R1801:Sugp2 UTSW 8 70,689,360 (GRCm39) missense possibly damaging 0.86
R1914:Sugp2 UTSW 8 70,706,310 (GRCm39) missense probably damaging 0.98
R1915:Sugp2 UTSW 8 70,706,310 (GRCm39) missense probably damaging 0.98
R2004:Sugp2 UTSW 8 70,695,306 (GRCm39) splice site probably null
R2012:Sugp2 UTSW 8 70,695,861 (GRCm39) missense possibly damaging 0.78
R4584:Sugp2 UTSW 8 70,704,548 (GRCm39) missense probably benign 0.13
R4791:Sugp2 UTSW 8 70,695,440 (GRCm39) missense probably damaging 1.00
R4970:Sugp2 UTSW 8 70,712,462 (GRCm39) missense possibly damaging 0.94
R5101:Sugp2 UTSW 8 70,713,139 (GRCm39) missense probably damaging 1.00
R5240:Sugp2 UTSW 8 70,695,925 (GRCm39) missense probably benign 0.00
R5279:Sugp2 UTSW 8 70,709,757 (GRCm39) intron probably benign
R5303:Sugp2 UTSW 8 70,694,827 (GRCm39) intron probably benign
R5988:Sugp2 UTSW 8 70,695,875 (GRCm39) missense probably benign
R6615:Sugp2 UTSW 8 70,695,420 (GRCm39) missense possibly damaging 0.92
R7382:Sugp2 UTSW 8 70,695,494 (GRCm39) missense probably benign 0.02
R7803:Sugp2 UTSW 8 70,704,722 (GRCm39) missense probably benign
R7908:Sugp2 UTSW 8 70,704,577 (GRCm39) missense probably benign 0.08
R8013:Sugp2 UTSW 8 70,704,292 (GRCm39) missense probably damaging 0.98
R8350:Sugp2 UTSW 8 70,695,641 (GRCm39) nonsense probably null
R9716:Sugp2 UTSW 8 70,712,370 (GRCm39) missense probably damaging 1.00
R9787:Sugp2 UTSW 8 70,695,428 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- ACTCGGCAGAAACACCATGG -3'
(R):5'- ATATTATGAGGAGTCAGGGCTCAGG -3'

Sequencing Primer
(F):5'- TCCTTGAGGGTGAAGCCAC -3'
(R):5'- TCAGGGCTCAGGAGGAATAG -3'
Posted On 2017-03-31