Mutagenetix > Incidental Mutation

Incidental Mutation 'R8285:Supt16'

638432

Institutional Source

Beutler Lab

Gene Symbol

Supt16

Ensembl Gene

ENSMUSG00000035726

Gene Name

SPT16, facilitates chromatin remodeling subunit

Synonyms

Spt16, Fact140, Supt16h, Cdc68

MMRRC Submission

067653-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8285 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52397876-52434696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52418540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 239 (V239E)

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: V239E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
AA Change: V239E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,904,079 (GRCm39)	I206T	probably damaging	Het
Atp5pf	A	G	16: 84,625,390 (GRCm39)	L71P	probably damaging	Het
Bcar3	A	T	3: 122,306,383 (GRCm39)	I468F	probably benign	Het
Ddi1	T	A	9: 6,265,808 (GRCm39)	Q187L	probably benign	Het
Dgkh	T	C	14: 78,865,566 (GRCm39)	N139D	probably benign	Het
Fan1	A	T	7: 64,016,348 (GRCm39)	I592N	probably damaging	Het
Fchsd2	T	C	7: 100,883,128 (GRCm39)	F252S	possibly damaging	Het
Gad2	T	A	2: 22,514,940 (GRCm39)	N139K	probably benign	Het
Gm12695	G	A	4: 96,657,990 (GRCm39)	R60W	possibly damaging	Het
Gucy1b2	A	G	14: 62,657,556 (GRCm39)	V224A	probably damaging	Het
Hspg2	A	G	4: 137,239,974 (GRCm39)	D514G	probably benign	Het
Igsf23	T	C	7: 19,675,881 (GRCm39)	D113G	possibly damaging	Het
Inhbc	T	C	10: 127,206,010 (GRCm39)	T86A	probably benign	Het
Itga11	T	C	9: 62,659,540 (GRCm39)	S431P	probably damaging	Het
Kif13b	A	G	14: 65,019,825 (GRCm39)	H1398R	probably benign	Het
Lce1f	T	C	3: 92,626,238 (GRCm39)	S140G	unknown	Het
Mapt	T	A	11: 104,189,628 (GRCm39)	D215E	probably benign	Het
Maz	T	C	7: 126,624,644 (GRCm39)	Y292C	possibly damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mpo	A	G	11: 87,688,393 (GRCm39)	M351V	probably benign	Het
Muc16	G	A	9: 18,554,273 (GRCm39)	P4007S	unknown	Het
Or4k47	A	T	2: 111,452,390 (GRCm39)	S10T	probably benign	Het
Or5h26	G	A	16: 58,988,176 (GRCm39)	T110I	probably benign	Het
Or5t9	T	C	2: 86,659,443 (GRCm39)	F116L	probably benign	Het
Ppp3ca	A	G	3: 136,587,205 (GRCm39)	D229G	probably damaging	Het
Pramel25	T	A	4: 143,520,636 (GRCm39)	D293E	probably benign	Het
Rab39	A	T	9: 53,617,231 (GRCm39)	I62N	probably damaging	Het
Rgs6	A	G	12: 83,162,949 (GRCm39)	E385G	probably benign	Het
Scaf8	T	C	17: 3,227,404 (GRCm39)	S340P	unknown	Het
Scpep1	A	G	11: 88,843,293 (GRCm39)	L55P	probably damaging	Het
Sorbs2	T	C	8: 46,249,104 (GRCm39)	L785P	probably damaging	Het
Usf3	T	C	16: 44,041,207 (GRCm39)	S1896P	probably damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Zfhx4	C	T	3: 5,466,916 (GRCm39)	T2383I	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
IGL01765:Supt16	APN	14	52,417,680 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- GCATCTTAGTTACAGGTATGTGCC -3'
(R):5'- GTGCTGTGACTTTAGATGACAC -3'

Sequencing Primer
(F):5'- CTCTGGTCCTCATGAGAGAATAGC -3'
(R):5'- CACATTAAATATCATGCACTTCTGTG -3'

Posted On

2020-07-28