Incidental Mutation 'IGL01024:Sgf29'
ID 53709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgf29
Ensembl Gene ENSMUSG00000030714
Gene Name SAGA complex associated factor 29
Synonyms 1700023O11Rik, Ccdc101
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01024
Quality Score
Status
Chromosome 7
Chromosomal Location 126248481-126272097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126264103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 56 (R56Q)
Ref Sequence ENSEMBL: ENSMUSP00000146122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032956] [ENSMUST00000126570] [ENSMUST00000205507] [ENSMUST00000206359]
AlphaFold Q9DA08
Predicted Effect possibly damaging
Transcript: ENSMUST00000032956
AA Change: R56Q

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032956
Gene: ENSMUSG00000030714
AA Change: R56Q

DomainStartEndE-ValueType
coiled coil region 66 86 N/A INTRINSIC
Pfam:DUF1325 158 288 5.2e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123571
Predicted Effect unknown
Transcript: ENSMUST00000126570
AA Change: R12Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152231
Predicted Effect possibly damaging
Transcript: ENSMUST00000205507
AA Change: R56Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206359
AA Change: R56Q

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,767,040 (GRCm39) V209A probably benign Het
Abca6 T A 11: 110,087,968 (GRCm39) Y1053F probably benign Het
Acot12 C T 13: 91,929,330 (GRCm39) Q386* probably null Het
Adamts16 A G 13: 70,943,603 (GRCm39) V336A probably benign Het
Ankrd49 A G 9: 14,694,099 (GRCm39) F23L probably damaging Het
Aspm A T 1: 139,405,862 (GRCm39) H1583L possibly damaging Het
Atp6v0a1 A G 11: 100,939,265 (GRCm39) I677V probably benign Het
Brinp1 A T 4: 68,680,731 (GRCm39) W600R probably damaging Het
Ccdc185 T C 1: 182,574,988 (GRCm39) E567G possibly damaging Het
Clip2 T C 5: 134,539,066 (GRCm39) D445G probably damaging Het
Elp5 T C 11: 69,859,248 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,570 (GRCm39) M1V probably null Het
Gtf2a1l A G 17: 88,978,719 (GRCm39) K40R probably damaging Het
Hdc A G 2: 126,445,766 (GRCm39) V246A probably benign Het
Hectd2 T A 19: 36,583,793 (GRCm39) F479L probably damaging Het
Hipk1 G T 3: 103,667,952 (GRCm39) N538K probably benign Het
Kif27 T A 13: 58,436,015 (GRCm39) E1259D possibly damaging Het
Klhdc2 T A 12: 69,352,610 (GRCm39) N256K probably benign Het
Krt71 C T 15: 101,645,109 (GRCm39) A401T probably damaging Het
Mapk3 A T 7: 126,363,946 (GRCm39) K312* probably null Het
Med12l G T 3: 58,980,762 (GRCm39) S365I probably damaging Het
Mgam A G 6: 40,619,944 (GRCm39) K11R probably benign Het
Nox3 A T 17: 3,733,290 (GRCm39) I187N probably damaging Het
Nudcd1 T A 15: 44,284,222 (GRCm39) M55L probably benign Het
Or1a1b A T 11: 74,097,481 (GRCm39) L187Q probably damaging Het
Or4f59 A T 2: 111,872,716 (GRCm39) F220L probably benign Het
Or8b57 A G 9: 40,004,029 (GRCm39) S78P probably damaging Het
Pard6g T C 18: 80,123,037 (GRCm39) probably benign Het
Pbrm1 G A 14: 30,774,217 (GRCm39) R461H probably damaging Het
Ppm1f C A 16: 16,741,633 (GRCm39) T369K probably benign Het
Ppp1r16b C T 2: 158,582,736 (GRCm39) probably benign Het
Pramel29 A T 4: 143,935,045 (GRCm39) I232K possibly damaging Het
Prom2 T C 2: 127,383,059 (GRCm39) N61S probably benign Het
Psmc2 T C 5: 22,006,196 (GRCm39) probably benign Het
Psme2 A G 14: 55,825,893 (GRCm39) probably benign Het
Ptprc T C 1: 138,008,650 (GRCm39) H655R probably damaging Het
Pxdn A C 12: 30,037,098 (GRCm39) N292T probably damaging Het
Rapgef2 T C 3: 78,977,445 (GRCm39) I1301V probably benign Het
Rnase11 T C 14: 51,287,321 (GRCm39) I78V probably benign Het
Rpl41 A G 10: 128,384,246 (GRCm39) probably benign Het
Sis A G 3: 72,819,209 (GRCm39) L1449S probably damaging Het
Slc34a2 T A 5: 53,224,972 (GRCm39) V371D possibly damaging Het
Son C A 16: 91,452,798 (GRCm39) T515K probably damaging Het
Tbx15 A T 3: 99,223,562 (GRCm39) D250V probably damaging Het
Thoc2l T G 5: 104,669,612 (GRCm39) V1378G probably benign Het
Tmem171 T A 13: 98,823,026 (GRCm39) probably null Het
Ugt2b36 C T 5: 87,228,728 (GRCm39) probably null Het
Vill G A 9: 118,899,418 (GRCm39) probably null Het
Vmn2r22 A G 6: 123,615,012 (GRCm39) F193L probably damaging Het
Vmn2r95 C T 17: 18,672,590 (GRCm39) probably benign Het
Vstm2a T A 11: 16,231,874 (GRCm39) V223D possibly damaging Het
Other mutations in Sgf29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Sgf29 APN 7 126,271,025 (GRCm39) missense probably damaging 1.00
xiangfan UTSW 7 126,263,110 (GRCm39) missense possibly damaging 0.90
R0280:Sgf29 UTSW 7 126,270,743 (GRCm39) missense probably benign 0.45
R1438:Sgf29 UTSW 7 126,271,063 (GRCm39) splice site probably null
R1987:Sgf29 UTSW 7 126,248,649 (GRCm39) splice site probably null
R4342:Sgf29 UTSW 7 126,270,949 (GRCm39) missense probably damaging 1.00
R4489:Sgf29 UTSW 7 126,263,110 (GRCm39) missense possibly damaging 0.90
R4869:Sgf29 UTSW 7 126,248,547 (GRCm39) unclassified probably benign
R4928:Sgf29 UTSW 7 126,264,154 (GRCm39) missense probably damaging 1.00
R7122:Sgf29 UTSW 7 126,271,221 (GRCm39) missense probably null 0.44
R7319:Sgf29 UTSW 7 126,270,821 (GRCm39) missense probably benign 0.00
R7902:Sgf29 UTSW 7 126,271,350 (GRCm39) missense probably damaging 1.00
R8152:Sgf29 UTSW 7 126,271,826 (GRCm39) missense possibly damaging 0.46
R8395:Sgf29 UTSW 7 126,271,837 (GRCm39) nonsense probably null
R8509:Sgf29 UTSW 7 126,270,834 (GRCm39) critical splice donor site probably benign
R9072:Sgf29 UTSW 7 126,271,826 (GRCm39) missense probably damaging 1.00
R9073:Sgf29 UTSW 7 126,271,826 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28