Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01535:Supt16'

89924

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 #

IGL01535

Quality Score

Status

Chromosome

Chromosomal Location

52160414-52197416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52177190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 422 (K422E)

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: K422E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: K422E

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,753,812 (GRCm38)	H600R	possibly damaging	Het
Adamts19	T	A	18: 58,968,819 (GRCm38)	S654T	probably benign	Het
Cacnb3	A	T	15: 98,639,588 (GRCm38)	Q49L	probably benign	Het
Dapk1	A	G	13: 60,731,031 (GRCm38)		probably benign	Het
Dopey2	T	A	16: 93,769,958 (GRCm38)	L1091*	probably null	Het
Epb42	A	G	2: 121,027,688 (GRCm38)	V263A	probably damaging	Het
Fig4	T	G	10: 41,256,494 (GRCm38)	S439R	probably benign	Het
Gatc	A	T	5: 115,340,989 (GRCm38)	V54E	possibly damaging	Het
Hook2	T	C	8: 85,002,989 (GRCm38)	L686P	probably benign	Het
Med12l	A	T	3: 59,262,259 (GRCm38)	T1615S	probably damaging	Het
Msr1	C	T	8: 39,611,673 (GRCm38)	G320D	probably benign	Het
Nbeal1	T	A	1: 60,217,255 (GRCm38)	F220I	probably damaging	Het
Olfr113	T	A	17: 37,574,788 (GRCm38)	I212F	possibly damaging	Het
Olfr167	G	A	16: 19,515,478 (GRCm38)	H53Y	probably benign	Het
Pcdh10	A	T	3: 45,379,643 (GRCm38)	I131F	probably damaging	Het
Phlpp2	A	G	8: 109,934,065 (GRCm38)	E784G	possibly damaging	Het
Prr36	A	T	8: 4,214,043 (GRCm38)		probably benign	Het
Ptprq	G	A	10: 107,699,596 (GRCm38)	S436L	probably benign	Het
Rock1	T	A	18: 10,132,119 (GRCm38)		probably benign	Het
Sash1	T	G	10: 8,741,577 (GRCm38)	T522P	probably damaging	Het
Serpinb2	T	C	1: 107,519,773 (GRCm38)		probably null	Het
Syt14	T	G	1: 192,986,765 (GRCm38)	D60A	probably damaging	Het
Tbc1d2b	A	C	9: 90,215,473 (GRCm38)		probably benign	Het
Thsd7b	T	C	1: 129,678,217 (GRCm38)	I565T	possibly damaging	Het
Ttn	A	G	2: 76,734,192 (GRCm38)	Y28534H	probably damaging	Het
Vmn1r177	T	A	7: 23,866,340 (GRCm38)	H37L	probably damaging	Het
Vps13b	A	T	15: 35,454,957 (GRCm38)	N671Y	possibly damaging	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
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
IGL03406:Supt16	APN	14	52,178,141 (GRCm38)	missense	possibly damaging	0.92
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

2013-12-03