Incidental Mutation 'IGL01727:Supt7l'
ID 105342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Supt7l
Ensembl Gene ENSMUSG00000053134
Gene Name SPT7-like, STAGA complex gamma subunit
Synonyms 6030455L14Rik, 2610524B01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01727
Quality Score
Status
Chromosome 5
Chromosomal Location 31671913-31684106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31677686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 160 (V160A)
Ref Sequence ENSEMBL: ENSMUSP00000144065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065388] [ENSMUST00000200721] [ENSMUST00000201769] [ENSMUST00000202421]
AlphaFold Q9CZV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000065388
AA Change: V160A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067337
Gene: ENSMUSG00000053134
AA Change: V160A

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
low complexity region 378 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200721
AA Change: V111A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144294
Gene: ENSMUSG00000053134
AA Change: V111A

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 46 68 N/A INTRINSIC
BTP 100 179 5.13e-25 SMART
low complexity region 329 344 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000201769
AA Change: V160A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144065
Gene: ENSMUSG00000053134
AA Change: V160A

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
low complexity region 378 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202421
AA Change: V160A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143795
Gene: ENSMUSG00000053134
AA Change: V160A

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202932
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,012,380 (GRCm39) A292V probably benign Het
Ankrd26 A G 6: 118,488,597 (GRCm39) L1354P probably damaging Het
Aox1 T A 1: 58,112,387 (GRCm39) C720* probably null Het
Aqp5 T C 15: 99,489,502 (GRCm39) L117P probably damaging Het
Ccn3 G A 15: 54,609,634 (GRCm39) A45T probably benign Het
Col9a3 T C 2: 180,258,358 (GRCm39) probably null Het
Ctrc T C 4: 141,571,072 (GRCm39) Y56C probably damaging Het
Dsc2 T A 18: 20,171,257 (GRCm39) T581S probably benign Het
Grap2 T C 15: 80,518,610 (GRCm39) I51T probably damaging Het
Herc2 A G 7: 55,787,554 (GRCm39) Y1737C probably damaging Het
Hook3 A G 8: 26,560,187 (GRCm39) M346T probably benign Het
Lancl1 C T 1: 67,060,101 (GRCm39) C108Y probably damaging Het
Lpin2 T C 17: 71,553,447 (GRCm39) C824R probably damaging Het
Mlip T C 9: 77,147,030 (GRCm39) S88G probably damaging Het
Mtdh T G 15: 34,083,255 (GRCm39) L25R probably damaging Het
Musk A G 4: 58,303,887 (GRCm39) I177V probably benign Het
Obi1 G A 14: 104,716,823 (GRCm39) R517* probably null Het
Or12e13 T C 2: 87,663,844 (GRCm39) S154P probably damaging Het
Or4c100 A G 2: 88,356,271 (GRCm39) M115V probably benign Het
Or9i16 A G 19: 13,865,242 (GRCm39) C111R probably damaging Het
Pabpc4l C A 3: 46,401,100 (GRCm39) E181D probably damaging Het
Pcdh18 A G 3: 49,710,149 (GRCm39) S389P probably damaging Het
Ptk7 A G 17: 46,883,474 (GRCm39) Y864H probably damaging Het
Rbp4 A G 19: 38,112,500 (GRCm39) V155A probably benign Het
Rilpl1 C T 5: 124,669,007 (GRCm39) A14T possibly damaging Het
Rnf148 T A 6: 23,655,001 (GRCm39) probably benign Het
Ska2 T A 11: 87,006,973 (GRCm39) L26Q probably damaging Het
Slc29a2 T A 19: 5,076,486 (GRCm39) F125I probably damaging Het
Smap2 A G 4: 120,839,405 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Susd1 A G 4: 59,412,329 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,842 (GRCm39) D375G probably damaging Het
Thoc2l A G 5: 104,667,379 (GRCm39) T634A probably benign Het
Tpst2 G A 5: 112,457,724 (GRCm39) D351N probably damaging Het
Trcg1 T C 9: 57,149,556 (GRCm39) I376T probably benign Het
Trcg1 T A 9: 57,149,877 (GRCm39) I483N probably damaging Het
Tsga10 T C 1: 37,874,355 (GRCm39) E148G probably damaging Het
Zranb1 G T 7: 132,568,349 (GRCm39) D336Y probably damaging Het
Other mutations in Supt7l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Supt7l APN 5 31,675,779 (GRCm39) missense probably benign 0.24
IGL02111:Supt7l APN 5 31,673,022 (GRCm39) splice site probably null
R0265:Supt7l UTSW 5 31,673,262 (GRCm39) missense probably benign 0.30
R0462:Supt7l UTSW 5 31,677,640 (GRCm39) missense probably damaging 0.99
R1311:Supt7l UTSW 5 31,677,605 (GRCm39) missense probably damaging 1.00
R4790:Supt7l UTSW 5 31,680,248 (GRCm39) missense possibly damaging 0.64
R6029:Supt7l UTSW 5 31,684,331 (GRCm39) splice site probably null
R6891:Supt7l UTSW 5 31,680,365 (GRCm39) missense probably damaging 0.96
R8243:Supt7l UTSW 5 31,673,013 (GRCm39) missense probably benign
R9661:Supt7l UTSW 5 31,680,403 (GRCm39) missense probably damaging 0.99
Z1177:Supt7l UTSW 5 31,680,150 (GRCm39) missense possibly damaging 0.90
Posted On 2014-01-21