Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02422:Supt16'

292709

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

Is this an essential gene?

Probably essential (E-score: 0.982) question?

Stock #

IGL02422

Quality Score

Status

Chromosome

Chromosomal Location

52160414-52197416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52179543 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 326 (Y326C)

Ref Sequence

ENSEMBL: ENSMUSP00000042283 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046709
AA Change: Y326C

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: Y326C

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,047,047		noncoding transcript	Het
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Aak1	A	T	6: 86,982,616	T846S	unknown	Het
Adgrl1	A	G	8: 83,937,486	D1149G	probably damaging	Het
AI661453	C	T	17: 47,467,092		probably benign	Het
Ap4b1	T	C	3: 103,812,854	V139A	possibly damaging	Het
Arhgef16	G	A	4: 154,287,065	R224*	probably null	Het
Ash1l	T	A	3: 89,069,079		probably null	Het
Atm	A	T	9: 53,500,792	V988D	probably damaging	Het
C3	T	C	17: 57,226,823	E47G	probably damaging	Het
Cdkn2aip	G	A	8: 47,711,499	S393L	probably damaging	Het
Cyp2c68	A	C	19: 39,734,452	N217K	probably damaging	Het
Dapp1	A	T	3: 137,961,499	S101T	probably benign	Het
Ddx25	T	C	9: 35,551,364	I242V	probably null	Het
Dpy19l4	T	C	4: 11,265,803	N715S	possibly damaging	Het
Dync1h1	A	G	12: 110,640,210	E2511G	possibly damaging	Het
Fopnl	T	G	16: 14,300,206	D150A	probably benign	Het
Gm9839	T	A	1: 32,519,862		probably benign	Het
Grn	A	G	11: 102,436,258		probably benign	Het
Haus5	T	C	7: 30,660,146	T196A	possibly damaging	Het
Ik	A	G	18: 36,753,260		probably null	Het
Inpp5d	T	G	1: 87,708,132	F473C	probably damaging	Het
Kif19a	C	A	11: 114,789,361	S841R	probably damaging	Het
Lipn	G	A	19: 34,068,663	C12Y	probably benign	Het
Ltbp4	G	T	7: 27,319,672	P1074Q	probably damaging	Het
Mfap2	T	C	4: 141,014,224	S65P	probably benign	Het
Mtbp	T	C	15: 55,563,043	F127S	possibly damaging	Het
Olfr1084	A	G	2: 86,639,216	F164S	probably damaging	Het
Pappa2	T	C	1: 158,936,933	D336G	probably damaging	Het
Plekhh2	A	G	17: 84,563,809		probably benign	Het
Plekhm3	A	T	1: 64,921,866	C410*	probably null	Het
Ppm1f	T	A	16: 16,917,716	H265Q	probably damaging	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Rasal3	T	C	17: 32,398,973	T207A	probably benign	Het
Rnf17	T	A	14: 56,482,135	N947K	probably damaging	Het
Rpl3l	C	A	17: 24,733,988	Y307*	probably null	Het
Sema4d	A	G	13: 51,703,088	S703P	probably benign	Het
Slc12a7	T	C	13: 73,806,161	M857T	probably benign	Het
Slc34a3	T	C	2: 25,232,263	D110G	probably benign	Het
Spata32	A	T	11: 103,208,880	N266K	probably benign	Het
Spata9	A	G	13: 75,993,074	I147V	probably benign	Het
Tpx2	T	C	2: 152,873,144	I95T	probably benign	Het
Usp17ld	T	A	7: 103,250,760	M322L	probably damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	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
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
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
R0389:Supt16	UTSW	14	52174113	missense	probably damaging	0.98
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

Posted On

2015-04-16