Incidental Mutation 'IGL03112:Supt16'
ID 419224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Supt16
Ensembl Gene ENSMUSG00000035726
Gene Name SPT16, facilitates chromatin remodeling subunit
Synonyms Spt16, Fact140, Supt16h, Cdc68
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL03112
Quality Score
Status
Chromosome 14
Chromosomal Location 52397876-52434696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52413855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 543 (F543L)
Ref Sequence ENSEMBL: ENSMUSP00000042283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046709]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046709
AA Change: F543L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: F543L

DomainStartEndE-ValueType
FACT-Spt16_Nlob 5 168 2.95e-87 SMART
Pfam:Peptidase_M24 181 411 2.9e-35 PFAM
low complexity region 435 449 N/A INTRINSIC
coiled coil region 462 493 N/A INTRINSIC
SPT16 529 689 3.38e-96 SMART
Rtt106 806 896 1.61e-38 SMART
low complexity region 926 946 N/A INTRINSIC
low complexity region 951 988 N/A INTRINSIC
coiled coil region 994 1023 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null Het
Other mutations in Supt16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Supt16 APN 14 52,399,255 (GRCm39) missense possibly damaging 0.72
IGL00985:Supt16 APN 14 52,399,148 (GRCm39) missense possibly damaging 0.53
IGL01160:Supt16 APN 14 52,420,589 (GRCm39) missense probably benign
IGL01328:Supt16 APN 14 52,414,489 (GRCm39) missense probably benign 0.20
IGL01329:Supt16 APN 14 52,414,489 (GRCm39) missense probably benign 0.20
IGL01413:Supt16 APN 14 52,414,489 (GRCm39) missense probably benign 0.20
IGL01414:Supt16 APN 14 52,414,489 (GRCm39) missense probably benign 0.20
IGL01535:Supt16 APN 14 52,414,647 (GRCm39) missense probably damaging 0.99
IGL01765:Supt16 APN 14 52,417,680 (GRCm39) missense probably damaging 0.98
IGL01976:Supt16 APN 14 52,419,764 (GRCm39) missense possibly damaging 0.70
IGL02422:Supt16 APN 14 52,417,000 (GRCm39) missense possibly damaging 0.85
IGL02449:Supt16 APN 14 52,411,263 (GRCm39) missense possibly damaging 0.92
IGL02516:Supt16 APN 14 52,421,421 (GRCm39) missense possibly damaging 0.57
IGL02831:Supt16 APN 14 52,408,335 (GRCm39) missense possibly damaging 0.70
IGL03406:Supt16 APN 14 52,415,598 (GRCm39) missense possibly damaging 0.92
R7336_Supt16_529 UTSW 14 52,408,948 (GRCm39) missense possibly damaging 0.93
watercolor UTSW 14 52,408,338 (GRCm39) missense probably damaging 0.96
R0332:Supt16 UTSW 14 52,418,614 (GRCm39) missense probably damaging 0.99
R0385:Supt16 UTSW 14 52,414,175 (GRCm39) missense probably benign 0.01
R0389:Supt16 UTSW 14 52,411,570 (GRCm39) missense probably damaging 0.98
R0422:Supt16 UTSW 14 52,421,453 (GRCm39) missense probably benign 0.26
R1101:Supt16 UTSW 14 52,408,896 (GRCm39) missense probably null 0.81
R1212:Supt16 UTSW 14 52,411,581 (GRCm39) nonsense probably null
R1487:Supt16 UTSW 14 52,414,065 (GRCm39) critical splice donor site probably null
R1494:Supt16 UTSW 14 52,409,916 (GRCm39) missense probably benign 0.01
R1566:Supt16 UTSW 14 52,414,112 (GRCm39) missense probably damaging 0.99
R1652:Supt16 UTSW 14 52,414,637 (GRCm39) missense probably benign 0.34
R1913:Supt16 UTSW 14 52,415,592 (GRCm39) missense possibly damaging 0.84
R2220:Supt16 UTSW 14 52,409,601 (GRCm39) nonsense probably null
R2344:Supt16 UTSW 14 52,415,575 (GRCm39) missense probably benign 0.00
R3430:Supt16 UTSW 14 52,412,816 (GRCm39) missense probably benign 0.05
R3746:Supt16 UTSW 14 52,417,596 (GRCm39) missense probably damaging 0.99
R3749:Supt16 UTSW 14 52,417,596 (GRCm39) missense probably damaging 0.99
R4010:Supt16 UTSW 14 52,401,898 (GRCm39) missense probably damaging 1.00
R4108:Supt16 UTSW 14 52,400,188 (GRCm39) missense probably damaging 1.00
R4109:Supt16 UTSW 14 52,400,188 (GRCm39) missense probably damaging 1.00
R4597:Supt16 UTSW 14 52,411,046 (GRCm39) missense probably damaging 1.00
R5117:Supt16 UTSW 14 52,420,549 (GRCm39) missense probably damaging 1.00
R5309:Supt16 UTSW 14 52,400,155 (GRCm39) missense probably damaging 1.00
R5695:Supt16 UTSW 14 52,411,601 (GRCm39) splice site probably null
R5895:Supt16 UTSW 14 52,401,979 (GRCm39) missense probably benign 0.17
R5941:Supt16 UTSW 14 52,419,653 (GRCm39) missense probably benign
R5993:Supt16 UTSW 14 52,415,791 (GRCm39) missense probably damaging 1.00
R6197:Supt16 UTSW 14 52,408,338 (GRCm39) missense probably damaging 0.96
R6254:Supt16 UTSW 14 52,408,291 (GRCm39) missense probably damaging 1.00
R6381:Supt16 UTSW 14 52,417,003 (GRCm39) missense probably benign 0.02
R6667:Supt16 UTSW 14 52,409,520 (GRCm39) missense probably damaging 1.00
R7000:Supt16 UTSW 14 52,408,907 (GRCm39) missense probably damaging 0.97
R7063:Supt16 UTSW 14 52,409,505 (GRCm39) missense possibly damaging 0.92
R7276:Supt16 UTSW 14 52,414,458 (GRCm39) missense probably benign
R7336:Supt16 UTSW 14 52,408,948 (GRCm39) missense possibly damaging 0.93
R7344:Supt16 UTSW 14 52,411,028 (GRCm39) missense probably damaging 0.98
R7384:Supt16 UTSW 14 52,418,619 (GRCm39) missense probably damaging 0.99
R7411:Supt16 UTSW 14 52,415,508 (GRCm39) missense probably damaging 1.00
R7586:Supt16 UTSW 14 52,411,013 (GRCm39) missense probably damaging 0.97
R7633:Supt16 UTSW 14 52,434,556 (GRCm39) missense probably benign 0.38
R8024:Supt16 UTSW 14 52,408,332 (GRCm39) missense probably damaging 0.96
R8197:Supt16 UTSW 14 52,411,542 (GRCm39) missense possibly damaging 0.95
R8201:Supt16 UTSW 14 52,408,447 (GRCm39) missense probably damaging 1.00
R8285:Supt16 UTSW 14 52,418,540 (GRCm39) missense possibly damaging 0.95
R8508:Supt16 UTSW 14 52,419,046 (GRCm39) missense probably damaging 1.00
R8531:Supt16 UTSW 14 52,410,020 (GRCm39) missense probably damaging 0.98
R8797:Supt16 UTSW 14 52,409,960 (GRCm39) missense probably damaging 0.99
R8872:Supt16 UTSW 14 52,411,544 (GRCm39) missense probably benign 0.01
R9048:Supt16 UTSW 14 52,418,513 (GRCm39) missense probably damaging 1.00
R9743:Supt16 UTSW 14 52,408,939 (GRCm39) missense probably damaging 1.00
Z1177:Supt16 UTSW 14 52,418,994 (GRCm39) missense probably null 0.21
Z1177:Supt16 UTSW 14 52,400,742 (GRCm39) missense possibly damaging 0.63
Posted On 2016-08-02