Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Supt16'

421596

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Supt16

Ensembl Gene

ENSMUSG00000035726

Gene Name

suppressor of Ty 16

Synonyms

Supt16h, Spt16, Fact140, Cdc68

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

52160414-52197416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52178141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 379 (I379N)

Ref Sequence

ENSEMBL: ENSMUSP00000042283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046709]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046709
AA Change: I379N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: I379N

Domain	Start	End	E-Value	Type
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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	A	G	4: 144,423,844 (GRCm38)	Y56H	probably damaging	Het
A530016L24Rik	T	A	12: 112,496,883 (GRCm38)		probably null	Het
Adcy7	C	T	8: 88,318,319 (GRCm38)	R228*	probably null	Het
Cdcp1	T	C	9: 123,185,313 (GRCm38)	H132R	probably benign	Het
Cyp4a32	T	C	4: 115,602,303 (GRCm38)	I78T	probably benign	Het
Fap	A	T	2: 62,542,122 (GRCm38)		probably benign	Het
Gad1-ps	C	T	10: 99,444,779 (GRCm38)		noncoding transcript	Het
Gli3	T	C	13: 15,648,581 (GRCm38)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,342,825 (GRCm38)	V97A	probably benign	Het
Hr	T	A	14: 70,563,420 (GRCm38)		probably null	Het
Itgax	C	T	7: 128,149,198 (GRCm38)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,681,993 (GRCm38)	R339H	probably damaging	Het
Mast4	T	C	13: 102,737,107 (GRCm38)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 94,476,855 (GRCm38)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,399,477 (GRCm38)	G44D	probably damaging	Het
Nol8	A	T	13: 49,661,568 (GRCm38)	D366V	probably damaging	Het
Olfr539	C	A	7: 140,667,511 (GRCm38)	L68M	probably damaging	Het
Pde4d	A	T	13: 109,954,591 (GRCm38)		probably benign	Het
Ptpn22	C	A	3: 103,912,016 (GRCm38)	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,722,169 (GRCm38)	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,270,101 (GRCm38)	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,947,585 (GRCm38)		noncoding transcript	Het
Smarcad1	T	A	6: 65,092,526 (GRCm38)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,742,873 (GRCm38)		probably benign	Het
Tmem154	A	G	3: 84,684,260 (GRCm38)	N39S	probably benign	Het
Ubash3b	T	A	9: 41,037,479 (GRCm38)	Y180F	probably damaging	Het
Usp48	T	A	4: 137,639,295 (GRCm38)	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 57,839,099 (GRCm38)	T366A	probably benign	Het
Zfp456	A	T	13: 67,366,331 (GRCm38)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,931,084 (GRCm38)	T345A	probably benign	Het

Other mutations in Supt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Supt16	APN	14	52,161,798 (GRCm38)	missense	possibly damaging	0.72
IGL00985:Supt16	APN	14	52,161,691 (GRCm38)	missense	possibly damaging	0.53
IGL01160:Supt16	APN	14	52,183,132 (GRCm38)	missense	probably benign
IGL01328:Supt16	APN	14	52,177,032 (GRCm38)	missense	probably benign	0.20
IGL01329:Supt16	APN	14	52,177,032 (GRCm38)	missense	probably benign	0.20
IGL01413:Supt16	APN	14	52,177,032 (GRCm38)	missense	probably benign	0.20
IGL01414:Supt16	APN	14	52,177,032 (GRCm38)	missense	probably benign	0.20
IGL01535:Supt16	APN	14	52,177,190 (GRCm38)	missense	probably damaging	0.99
IGL01765:Supt16	APN	14	52,180,223 (GRCm38)	missense	probably damaging	0.98
IGL01976:Supt16	APN	14	52,182,307 (GRCm38)	missense	possibly damaging	0.70
IGL02422:Supt16	APN	14	52,179,543 (GRCm38)	missense	possibly damaging	0.85
IGL02449:Supt16	APN	14	52,173,806 (GRCm38)	missense	possibly damaging	0.92
IGL02516:Supt16	APN	14	52,183,964 (GRCm38)	missense	possibly damaging	0.57
IGL02831:Supt16	APN	14	52,170,878 (GRCm38)	missense	possibly damaging	0.70
IGL03112:Supt16	APN	14	52,176,398 (GRCm38)	missense	probably damaging	0.98
R7336_Supt16_529	UTSW	14	52,171,491 (GRCm38)	missense	possibly damaging	0.93
watercolor	UTSW	14	52,170,881 (GRCm38)	missense	probably damaging	0.96
R0332:Supt16	UTSW	14	52,181,157 (GRCm38)	missense	probably damaging	0.99
R0385:Supt16	UTSW	14	52,176,718 (GRCm38)	missense	probably benign	0.01
R0389:Supt16	UTSW	14	52,174,113 (GRCm38)	missense	probably damaging	0.98
R0422:Supt16	UTSW	14	52,183,996 (GRCm38)	missense	probably benign	0.26
R1101:Supt16	UTSW	14	52,171,439 (GRCm38)	missense	probably null	0.81
R1212:Supt16	UTSW	14	52,174,124 (GRCm38)	nonsense	probably null
R1487:Supt16	UTSW	14	52,176,608 (GRCm38)	critical splice donor site	probably null
R1494:Supt16	UTSW	14	52,172,459 (GRCm38)	missense	probably benign	0.01
R1566:Supt16	UTSW	14	52,176,655 (GRCm38)	missense	probably damaging	0.99
R1652:Supt16	UTSW	14	52,177,180 (GRCm38)	missense	probably benign	0.34
R1913:Supt16	UTSW	14	52,178,135 (GRCm38)	missense	possibly damaging	0.84
R2220:Supt16	UTSW	14	52,172,144 (GRCm38)	nonsense	probably null
R2344:Supt16	UTSW	14	52,178,118 (GRCm38)	missense	probably benign	0.00
R3430:Supt16	UTSW	14	52,175,359 (GRCm38)	missense	probably benign	0.05
R3746:Supt16	UTSW	14	52,180,139 (GRCm38)	missense	probably damaging	0.99
R3749:Supt16	UTSW	14	52,180,139 (GRCm38)	missense	probably damaging	0.99
R4010:Supt16	UTSW	14	52,164,441 (GRCm38)	missense	probably damaging	1.00
R4108:Supt16	UTSW	14	52,162,731 (GRCm38)	missense	probably damaging	1.00
R4109:Supt16	UTSW	14	52,162,731 (GRCm38)	missense	probably damaging	1.00
R4597:Supt16	UTSW	14	52,173,589 (GRCm38)	missense	probably damaging	1.00
R5117:Supt16	UTSW	14	52,183,092 (GRCm38)	missense	probably damaging	1.00
R5309:Supt16	UTSW	14	52,162,698 (GRCm38)	missense	probably damaging	1.00
R5695:Supt16	UTSW	14	52,174,144 (GRCm38)	splice site	probably null
R5895:Supt16	UTSW	14	52,164,522 (GRCm38)	missense	probably benign	0.17
R5941:Supt16	UTSW	14	52,182,196 (GRCm38)	missense	probably benign
R5993:Supt16	UTSW	14	52,178,334 (GRCm38)	missense	probably damaging	1.00
R6197:Supt16	UTSW	14	52,170,881 (GRCm38)	missense	probably damaging	0.96
R6254:Supt16	UTSW	14	52,170,834 (GRCm38)	missense	probably damaging	1.00
R6381:Supt16	UTSW	14	52,179,546 (GRCm38)	missense	probably benign	0.02
R6667:Supt16	UTSW	14	52,172,063 (GRCm38)	missense	probably damaging	1.00
R7000:Supt16	UTSW	14	52,171,450 (GRCm38)	missense	probably damaging	0.97
R7063:Supt16	UTSW	14	52,172,048 (GRCm38)	missense	possibly damaging	0.92
R7276:Supt16	UTSW	14	52,177,001 (GRCm38)	missense	probably benign
R7336:Supt16	UTSW	14	52,171,491 (GRCm38)	missense	possibly damaging	0.93
R7344:Supt16	UTSW	14	52,173,571 (GRCm38)	missense	probably damaging	0.98
R7384:Supt16	UTSW	14	52,181,162 (GRCm38)	missense	probably damaging	0.99
R7411:Supt16	UTSW	14	52,178,051 (GRCm38)	missense	probably damaging	1.00
R7586:Supt16	UTSW	14	52,173,556 (GRCm38)	missense	probably damaging	0.97
R7633:Supt16	UTSW	14	52,197,099 (GRCm38)	missense	probably benign	0.38
R8024:Supt16	UTSW	14	52,170,875 (GRCm38)	missense	probably damaging	0.96
R8197:Supt16	UTSW	14	52,174,085 (GRCm38)	missense	possibly damaging	0.95
R8201:Supt16	UTSW	14	52,170,990 (GRCm38)	missense	probably damaging	1.00
R8285:Supt16	UTSW	14	52,181,083 (GRCm38)	missense	possibly damaging	0.95
R8508:Supt16	UTSW	14	52,181,589 (GRCm38)	missense	probably damaging	1.00
R8531:Supt16	UTSW	14	52,172,563 (GRCm38)	missense	probably damaging	0.98
R8797:Supt16	UTSW	14	52,172,503 (GRCm38)	missense	probably damaging	0.99
R8872:Supt16	UTSW	14	52,174,087 (GRCm38)	missense	probably benign	0.01
R9048:Supt16	UTSW	14	52,181,056 (GRCm38)	missense	probably damaging	1.00
R9743:Supt16	UTSW	14	52,171,482 (GRCm38)	missense	probably damaging	1.00
Z1177:Supt16	UTSW	14	52,181,537 (GRCm38)	missense	probably null	0.21
Z1177:Supt16	UTSW	14	52,163,285 (GRCm38)	missense	possibly damaging	0.63

Posted On

2016-08-02