Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Supt16'

31523

Institutional Source

Beutler Lab

Gene Symbol

Supt16

Ensembl Gene

ENSMUSG00000035726

Gene Name

suppressor of Ty 16

Synonyms

Supt16h, Spt16, Fact140, Cdc68

MMRRC Submission

038595-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52160414-52197416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52174113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 604 (N604K)

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: N604K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: N604K

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

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,671,404	E30K	unknown	Het
Abi3bp	A	T	16: 56,671,307	T1319S	possibly damaging	Het
Adam18	T	C	8: 24,629,637		probably null	Het
Adgre1	G	A	17: 57,406,839	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,303,788		probably null	Het
Ankhd1	A	G	18: 36,644,599	S1612G	possibly damaging	Het
Anks1	A	G	17: 27,995,952	R458G	possibly damaging	Het
C130026I21Rik	T	A	1: 85,270,052	N5Y	probably benign	Het
Cacna1g	C	T	11: 94,459,697	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,782	V1037E	possibly damaging	Het
Casz1	T	C	4: 148,948,911	V1380A	possibly damaging	Het
Cenpq	T	C	17: 40,933,194		probably benign	Het
Chrac1	T	C	15: 73,093,527	I93T	possibly damaging	Het
Cntnap2	T	A	6: 46,009,637	S359T	probably benign	Het
Col6a6	C	A	9: 105,784,204	M235I	probably benign	Het
Crat	T	C	2: 30,403,628		probably benign	Het
Cyp1a2	T	C	9: 57,682,025	N169D	probably benign	Het
Dennd1c	T	A	17: 57,067,649	T499S	probably benign	Het
Dst	A	G	1: 34,294,550		probably null	Het
Dync2h1	G	T	9: 7,167,244		probably null	Het
Eif3h	C	A	15: 51,799,264	V129F	probably damaging	Het
Eno2	A	G	6: 124,762,691	F380L	probably damaging	Het
Ergic2	T	A	6: 148,183,202	I34F	probably benign	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fam185a	C	T	5: 21,459,285	T339M	probably damaging	Het
Fam20b	A	T	1: 156,681,453	D396E	probably benign	Het
Fam71f2	T	A	6: 29,281,392	V43E	possibly damaging	Het
Fasn	G	T	11: 120,816,182	D881E	probably damaging	Het
Fat1	C	A	8: 44,950,348	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,432,482	C439S	probably benign	Het
Gba2	A	T	4: 43,570,832	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,457,918	I517V	probably benign	Het
Gng13	C	T	17: 25,718,722	Q8*	probably null	Het
Golga1	A	T	2: 39,018,441	S749T	probably damaging	Het
Gphn	A	T	12: 78,590,659	I381F	probably damaging	Het
Grm3	T	C	5: 9,504,794	N833D	probably damaging	Het
Gstt2	G	T	10: 75,832,432	T163K	probably damaging	Het
Gusb	A	T	5: 129,998,086	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hspg2	A	G	4: 137,515,423	T650A	possibly damaging	Het
Ints2	C	T	11: 86,248,851	V306I	probably damaging	Het
Itga1	T	A	13: 114,992,460	D554V	probably benign	Het
Itgam	C	T	7: 128,081,634	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,858,323	T161A	probably benign	Het
Klhl18	A	T	9: 110,428,681	C564S	probably benign	Het
Krt40	T	A	11: 99,541,714	R159*	probably null	Het
L3mbtl4	G	A	17: 68,455,780	V103M	probably damaging	Het
Lnx2	C	A	5: 147,019,040	V649L	possibly damaging	Het
Lpp	A	T	16: 24,608,241	Q39H	probably damaging	Het
Lrpprc	A	T	17: 84,753,112		probably null	Het
Map3k19	A	T	1: 127,822,415	N1066K	probably benign	Het
Mbtps2	G	T	X: 157,568,368	T134K	probably benign	Het
Mfng	C	T	15: 78,764,437	V147M	possibly damaging	Het
Mks1	T	C	11: 87,857,928	S273P	probably benign	Het
Myh2	T	C	11: 67,180,821	L488P	probably damaging	Het
Myo15	A	G	11: 60,478,538	N708S	probably benign	Het
Myo6	A	T	9: 80,292,466	N1019I	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Ncoa1	T	G	12: 4,295,976	N457T	probably benign	Het
Neb	T	C	2: 52,161,477		probably null	Het
Nlrp4e	C	A	7: 23,355,203	N927K	probably damaging	Het
Npffr2	T	C	5: 89,582,754	M181T	probably benign	Het
Nxf7	A	T	X: 135,584,383	C495S	possibly damaging	Het
Oas1g	T	C	5: 120,887,529	T12A	probably benign	Het
Olfr130	C	G	17: 38,067,671	R167G	possibly damaging	Het
Olfr23	T	A	11: 73,941,053	V269E	probably benign	Het
Olfr484	A	G	7: 108,124,816	V149A	probably benign	Het
Olfr591	A	T	7: 103,173,283	V118E	possibly damaging	Het
Olfr744	T	A	14: 50,618,579	L119Q	probably damaging	Het
Papln	C	T	12: 83,783,379	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,412,432	D187A	probably damaging	Het
Phf2	T	A	13: 48,804,489	E1016D	unknown	Het
Phf8	T	A	X: 151,552,622	D197E	probably benign	Het
Pikfyve	A	G	1: 65,196,706	H179R	probably damaging	Het
Prkcz	T	A	4: 155,269,140	D250V	probably damaging	Het
Prpf4	A	G	4: 62,422,605	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,934,614	Y23*	probably null	Het
Prr5	T	A	15: 84,702,951	S301T	probably benign	Het
Psg16	T	A	7: 17,095,163	I224N	probably benign	Het
Radil	A	G	5: 142,543,471	F186L	probably damaging	Het
Reg3g	A	T	6: 78,468,561	M1K	probably null	Het
Rps6ka3	A	G	X: 159,317,967	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,590,363	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,811,507	R614C	probably damaging	Het
Slc12a4	A	G	8: 105,951,967	S244P	probably benign	Het
Sptbn1	T	C	11: 30,139,250	T671A	possibly damaging	Het
Synj2	G	A	17: 6,029,783	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,951,196	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,172,869	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987	D709G	probably benign	Het
Tfap2d	C	T	1: 19,104,367	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,629,702	T333N	probably benign	Het
Tnk1	T	C	11: 69,855,682	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,378,094	F144S	probably benign	Het
Twnk	G	T	19: 45,008,139	G337V	possibly damaging	Het
Unc13a	A	G	8: 71,658,032	F464L	probably benign	Het
Usp17le	C	A	7: 104,768,460	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,011,762	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,748,311	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,541,074	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,335,986	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,801,494	V196A	probably benign	Het
Xdh	T	A	17: 73,898,362	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,228,296	Y214*	probably null	Het

Other mutations in Supt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Supt16	APN	14	52161798	missense	possibly damaging	0.72
IGL00985:Supt16	APN	14	52161691	missense	possibly damaging	0.53
IGL01160:Supt16	APN	14	52183132	missense	probably benign
IGL01328:Supt16	APN	14	52177032	missense	probably benign	0.20
IGL01329:Supt16	APN	14	52177032	missense	probably benign	0.20
IGL01413:Supt16	APN	14	52177032	missense	probably benign	0.20
IGL01414:Supt16	APN	14	52177032	missense	probably benign	0.20
IGL01535:Supt16	APN	14	52177190	missense	probably damaging	0.99
IGL01765:Supt16	APN	14	52180223	missense	probably damaging	0.98
IGL01976:Supt16	APN	14	52182307	missense	possibly damaging	0.70
IGL02422:Supt16	APN	14	52179543	missense	possibly damaging	0.85
IGL02449:Supt16	APN	14	52173806	missense	possibly damaging	0.92
IGL02516:Supt16	APN	14	52183964	missense	possibly damaging	0.57
IGL02831:Supt16	APN	14	52170878	missense	possibly damaging	0.70
IGL03112:Supt16	APN	14	52176398	missense	probably damaging	0.98
IGL03406:Supt16	APN	14	52178141	missense	possibly damaging	0.92
R7336_Supt16_529	UTSW	14	52171491	missense	possibly damaging	0.93
watercolor	UTSW	14	52170881	missense	probably damaging	0.96
R0332:Supt16	UTSW	14	52181157	missense	probably damaging	0.99
R0385:Supt16	UTSW	14	52176718	missense	probably benign	0.01
R0422:Supt16	UTSW	14	52183996	missense	probably benign	0.26
R1101:Supt16	UTSW	14	52171439	missense	probably null	0.81
R1212:Supt16	UTSW	14	52174124	nonsense	probably null
R1487:Supt16	UTSW	14	52176608	critical splice donor site	probably null
R1494:Supt16	UTSW	14	52172459	missense	probably benign	0.01
R1566:Supt16	UTSW	14	52176655	missense	probably damaging	0.99
R1652:Supt16	UTSW	14	52177180	missense	probably benign	0.34
R1913:Supt16	UTSW	14	52178135	missense	possibly damaging	0.84
R2220:Supt16	UTSW	14	52172144	nonsense	probably null
R2344:Supt16	UTSW	14	52178118	missense	probably benign	0.00
R3430:Supt16	UTSW	14	52175359	missense	probably benign	0.05
R3746:Supt16	UTSW	14	52180139	missense	probably damaging	0.99
R3749:Supt16	UTSW	14	52180139	missense	probably damaging	0.99
R4010:Supt16	UTSW	14	52164441	missense	probably damaging	1.00
R4108:Supt16	UTSW	14	52162731	missense	probably damaging	1.00
R4109:Supt16	UTSW	14	52162731	missense	probably damaging	1.00
R4597:Supt16	UTSW	14	52173589	missense	probably damaging	1.00
R5117:Supt16	UTSW	14	52183092	missense	probably damaging	1.00
R5309:Supt16	UTSW	14	52162698	missense	probably damaging	1.00
R5695:Supt16	UTSW	14	52174144	splice site	probably null
R5895:Supt16	UTSW	14	52164522	missense	probably benign	0.17
R5941:Supt16	UTSW	14	52182196	missense	probably benign
R5993:Supt16	UTSW	14	52178334	missense	probably damaging	1.00
R6197:Supt16	UTSW	14	52170881	missense	probably damaging	0.96
R6254:Supt16	UTSW	14	52170834	missense	probably damaging	1.00
R6381:Supt16	UTSW	14	52179546	missense	probably benign	0.02
R6667:Supt16	UTSW	14	52172063	missense	probably damaging	1.00
R7000:Supt16	UTSW	14	52171450	missense	probably damaging	0.97
R7063:Supt16	UTSW	14	52172048	missense	possibly damaging	0.92
R7276:Supt16	UTSW	14	52177001	missense	probably benign
R7336:Supt16	UTSW	14	52171491	missense	possibly damaging	0.93
R7344:Supt16	UTSW	14	52173571	missense	probably damaging	0.98
R7384:Supt16	UTSW	14	52181162	missense	probably damaging	0.99
R7411:Supt16	UTSW	14	52178051	missense	probably damaging	1.00
R7586:Supt16	UTSW	14	52173556	missense	probably damaging	0.97
R7633:Supt16	UTSW	14	52197099	missense	probably benign	0.38
R8024:Supt16	UTSW	14	52170875	missense	probably damaging	0.96
R8197:Supt16	UTSW	14	52174085	missense	possibly damaging	0.95
R8201:Supt16	UTSW	14	52170990	missense	probably damaging	1.00
R8285:Supt16	UTSW	14	52181083	missense	possibly damaging	0.95
R8508:Supt16	UTSW	14	52181589	missense	probably damaging	1.00
R8531:Supt16	UTSW	14	52172563	missense	probably damaging	0.98
R8797:Supt16	UTSW	14	52172503	missense	probably damaging	0.99
R8872:Supt16	UTSW	14	52174087	missense	probably benign	0.01
R9048:Supt16	UTSW	14	52181056	missense	probably damaging	1.00
R9743:Supt16	UTSW	14	52171482	missense	probably damaging	1.00
Z1177:Supt16	UTSW	14	52163285	missense	possibly damaging	0.63
Z1177:Supt16	UTSW	14	52181537	missense	probably null	0.21

Predicted Primers

PCR Primer
(F):5'- TGTGCATGGAGCCTTCATACCAAC -3'
(R):5'- GTTAAGCCATCTGGGCATGGTagc -3'

Sequencing Primer
(F):5'- CTTCCAAAGACCTGTCTGTACAAAG -3'
(R):5'- ggggaggtagagacaggg -3'

Posted On

2013-04-24