Incidental Mutation 'R0280:Sgf29'
ID 37456
Institutional Source Beutler Lab
Gene Symbol Sgf29
Ensembl Gene ENSMUSG00000030714
Gene Name SAGA complex associated factor 29
Synonyms 1700023O11Rik, Ccdc101
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0280 (G1)
Quality Score 152
Status Validated
Chromosome 7
Chromosomal Location 126248481-126272097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126270743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 108 (E108G)
Ref Sequence ENSEMBL: ENSMUSP00000145562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032956] [ENSMUST00000106371] [ENSMUST00000106372] [ENSMUST00000106373] [ENSMUST00000205507] [ENSMUST00000206359] [ENSMUST00000155419]
AlphaFold Q9DA08
Predicted Effect probably benign
Transcript: ENSMUST00000032956
AA Change: E108G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032956
Gene: ENSMUSG00000030714
AA Change: E108G

DomainStartEndE-ValueType
coiled coil region 66 86 N/A INTRINSIC
Pfam:DUF1325 158 288 5.2e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106371
SMART Domains Protein: ENSMUSP00000101979
Gene: ENSMUSG00000030711

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 256 1.1e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106372
SMART Domains Protein: ENSMUSP00000101980
Gene: ENSMUSG00000030711

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 41 263 1.1e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106373
SMART Domains Protein: ENSMUSP00000101981
Gene: ENSMUSG00000030711

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 284 1.1e-89 PFAM
Pfam:Sulfotransfer_3 36 210 2.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123382
Predicted Effect probably benign
Transcript: ENSMUST00000129786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138794
Predicted Effect probably benign
Transcript: ENSMUST00000205507
AA Change: E108G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000206359
AA Change: E108G

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152231
Predicted Effect probably benign
Transcript: ENSMUST00000155419
SMART Domains Protein: ENSMUSP00000121514
Gene: ENSMUSG00000030711

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 121 6e-23 PFAM
Pfam:Sulfotransfer_1 133 181 1.5e-13 PFAM
Meta Mutation Damage Score 0.1035 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Drg1 A T 11: 3,206,537 (GRCm39) probably null Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Esr1 A G 10: 4,806,951 (GRCm39) D289G probably benign Het
Esr1 G T 10: 4,889,289 (GRCm39) V396F probably damaging Het
Evi5l T C 8: 4,243,133 (GRCm39) V339A probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Nkapd1 T C 9: 50,520,679 (GRCm39) T123A probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc22a27 A T 19: 7,874,187 (GRCm39) L188* probably null Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Tomm40 G A 7: 19,447,676 (GRCm39) T118I probably damaging Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G probably benign Het
Other mutations in Sgf29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Sgf29 APN 7 126,264,103 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- ACACATTGGAAACTTGCTTAGCCCC -3'
(R):5'- AGAGAAAGCCTGTTAGTCTGGCCC -3'

Sequencing Primer
(F):5'- cccactttcctgacatctcac -3'
(R):5'- GTTAGTCTGGCCCCCCAAC -3'
Posted On 2013-05-23