Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01765:Supt16'

153308

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 #

IGL01765

Quality Score

Status

Chromosome

Chromosomal Location

52397876-52434696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52417680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 278 (R278H)

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: R278H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: R278H

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	T	17: 43,030,426 (GRCm39)	M11K	probably benign	Het
Agap2	T	C	10: 126,919,104 (GRCm39)	V442A	unknown	Het
Cdh20	C	T	1: 109,988,836 (GRCm39)	T246I	probably damaging	Het
Creb3l1	T	C	2: 91,854,446 (GRCm39)	D2G	possibly damaging	Het
Dicer1	G	A	12: 104,672,999 (GRCm39)	R811C	probably damaging	Het
Drosha	C	A	15: 12,902,766 (GRCm39)	A1012E	probably damaging	Het
Eftud2	A	G	11: 102,730,082 (GRCm39)	I896T	probably damaging	Het
Fastkd5	T	C	2: 130,457,654 (GRCm39)	Y312C	possibly damaging	Het
Flt3	A	G	5: 147,294,788 (GRCm39)	F428L	probably benign	Het
Hrh4	G	A	18: 13,140,252 (GRCm39)	R49Q	probably damaging	Het
Lrp6	T	C	6: 134,433,108 (GRCm39)	T1408A	probably damaging	Het
Lsg1	T	C	16: 30,400,913 (GRCm39)	E132G	probably damaging	Het
Ltf	T	C	9: 110,851,085 (GRCm39)	V99A	possibly damaging	Het
Mettl13	A	T	1: 162,366,522 (GRCm39)	D452E	probably benign	Het
Ndufa7	G	T	17: 34,048,786 (GRCm39)	E83*	probably null	Het
Nmrk1	C	T	19: 18,616,902 (GRCm39)	T17M	probably damaging	Het
Ntsr1	A	G	2: 180,180,510 (GRCm39)	E272G	possibly damaging	Het
Obscn	T	C	11: 59,006,610 (GRCm39)	K1184R	possibly damaging	Het
Or10z1	T	G	1: 174,077,703 (GRCm39)	K263N	probably damaging	Het
Or11j4	A	T	14: 50,630,291 (GRCm39)	Q26L	probably benign	Het
Or1e21	A	C	11: 73,344,303 (GRCm39)	L245R	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or7e170	A	T	9: 19,795,247 (GRCm39)	M118K	possibly damaging	Het
Pcdhb10	A	G	18: 37,547,072 (GRCm39)	K716R	probably benign	Het
Phldb3	A	G	7: 24,316,800 (GRCm39)	D267G	possibly damaging	Het
Plcb2	T	A	2: 118,540,749 (GRCm39)		probably benign	Het
Pramel17	T	C	4: 101,695,049 (GRCm39)	I87M	probably benign	Het
Pusl1	A	G	4: 155,974,170 (GRCm39)	F219L	probably damaging	Het
Rbbp6	T	C	7: 122,599,177 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,704,261 (GRCm39)	D228E	probably benign	Het
Rnf213	A	T	11: 119,327,178 (GRCm39)	M1723L	probably benign	Het
Sc5d	A	G	9: 42,167,464 (GRCm39)	F128S	probably damaging	Het
Sco1	T	C	11: 66,944,616 (GRCm39)	S80P	probably damaging	Het
Supt6	A	G	11: 78,112,985 (GRCm39)	I986T	probably benign	Het
Trio	A	G	15: 27,764,112 (GRCm39)	V860A	possibly damaging	Het
Uck1	A	G	2: 32,148,688 (GRCm39)		probably benign	Het
Vmn2r63	T	C	7: 42,552,788 (GRCm39)	T823A	probably benign	Het

Other mutations in Supt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
IGL03112:Supt16	APN	14	52,413,855 (GRCm39)	missense	probably damaging	0.98
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

2014-02-04