Mutagenetix > Incidental Mutation

Incidental Mutation 'R2883:Supt5'

260915

Institutional Source

Beutler Lab

Gene Symbol

Supt5

Ensembl Gene

ENSMUSG00000003435

Gene Name

suppressor of Ty 5

Synonyms

Supt5h, Spt5

MMRRC Submission

040471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28314891-28338746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28329320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 153 (Y153H)

Ref Sequence

ENSEMBL: ENSMUSP00000147164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003527] [ENSMUST00000207563] [ENSMUST00000208243] [ENSMUST00000209141]

AlphaFold

O55201

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003527
AA Change: Y153H

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: Y153H

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
coiled coil region	36	63	N/A	INTRINSIC
Pfam:Spt5_N	73	170	8.1e-17	PFAM
NGN	174	265	2.2e-14	SMART
KOW	270	297	8.77e0	SMART
KOW	417	444	8.69e-4	SMART
KOW	469	496	9.1e-7	SMART
KOW	591	618	2.46e-3	SMART
low complexity region	677	695	N/A	INTRINSIC
KOW	697	724	3.93e-2	SMART
CTD	766	902	2.09e-31	SMART
KOW	1028	1055	9.69e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208243
AA Change: Y5H

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208726

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209141
AA Change: Y153H

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	C	A	17: 47,436,725	V32F	probably damaging	Het
1700018B08Rik	G	A	8: 121,539,905	P81S	probably damaging	Het
Arhgef10l	T	C	4: 140,516,802	Q790R	probably benign	Het
Asic2	T	A	11: 80,894,013	I367F	possibly damaging	Het
Asxl2	T	C	12: 3,501,830	S1191P	probably benign	Het
Bod1l	A	G	5: 41,832,259	S374P	probably benign	Het
C1qtnf7	T	A	5: 43,615,880	F167I	probably damaging	Het
Col13a1	A	G	10: 61,978,356	L94P	probably benign	Het
Cped1	A	T	6: 22,143,979	T575S	probably damaging	Het
Cpt1b	T	C	15: 89,417,869	Y702C	probably benign	Het
D630039A03Rik	T	A	4: 57,910,560	N84I	probably damaging	Het
Dse	A	T	10: 34,152,507	D862E	probably benign	Het
Etl4	A	T	2: 20,806,174	T1023S	possibly damaging	Het
Fat4	T	A	3: 38,980,804	N2868K	probably damaging	Het
Fgd5	G	A	6: 91,987,109		probably null	Het
Fsip2	C	T	2: 82,991,524	T5867I	possibly damaging	Het
Fuca2	A	G	10: 13,505,951	T203A	probably benign	Het
Gli2	T	C	1: 118,868,144	I131V	probably damaging	Het
Gtpbp4	A	G	13: 8,990,723	V122A	possibly damaging	Het
Kif1b	G	A	4: 149,237,648	T938I	possibly damaging	Het
Klhl29	T	C	12: 5,084,036	D767G	probably damaging	Het
Mageb3	A	G	2: 121,954,366	V285A	probably benign	Het
Myoc	A	G	1: 162,639,616	E118G	possibly damaging	Het
Nedd1	A	C	10: 92,694,998	F410V	probably damaging	Het
Nipal1	A	T	5: 72,667,730	K255N	probably damaging	Het
Npr3	T	C	15: 11,883,324	K340E	possibly damaging	Het
Obsl1	C	A	1: 75,496,511	G1023C	possibly damaging	Het
Ogdh	T	C	11: 6,334,545	L188P	probably damaging	Het
Olfr110	C	T	17: 37,499,380	S243F	probably damaging	Het
Olfr1500	T	A	19: 13,827,875	I174F	probably damaging	Het
Olfr616	T	C	7: 103,565,264	N5S	probably benign	Het
Otogl	G	A	10: 107,768,981	T2188M	probably damaging	Het
Pck1	G	A	2: 173,158,575	V600I	probably benign	Het
Ranbp17	A	G	11: 33,504,708	C42R	probably damaging	Het
Rapgef4	G	A	2: 72,031,125	R53H	probably benign	Het
Rbm12	G	A	2: 156,097,075	H426Y	probably damaging	Het
Retreg2	C	T	1: 75,146,712	P428L	probably benign	Het
Rev3l	G	T	10: 39,825,156	S1883I	probably damaging	Het
Rinl	CGGG	CGGGGG	7: 28,797,658		probably null	Het
Rora	T	C	9: 69,375,435	S356P	probably damaging	Het
Slc31a1	T	C	4: 62,388,771	V188A	probably damaging	Het
Slc9a3	A	G	13: 74,158,760	K335E	probably damaging	Het
Spata22	C	A	11: 73,344,678	H274N	possibly damaging	Het
Srrm1	T	C	4: 135,321,411		probably benign	Het
Stab2	A	T	10: 86,967,686	I333N	possibly damaging	Het
Tyk2	T	C	9: 21,110,587	T825A	probably benign	Het
Usp20	G	A	2: 31,018,800	V798M	probably benign	Het
Wdr26	A	T	1: 181,211,120	D102E	probably damaging	Het

Other mutations in Supt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Supt5	APN	7	28315382	missense	probably benign	0.08
IGL01077:Supt5	APN	7	28323788	nonsense	probably null
IGL01477:Supt5	APN	7	28317264	missense	possibly damaging	0.94
IGL01813:Supt5	APN	7	28323975	missense	probably damaging	0.99
IGL02405:Supt5	APN	7	28315824	missense	probably benign	0.00
IGL02525:Supt5	APN	7	28318947	splice site	probably benign
IGL02584:Supt5	APN	7	28326167	missense	probably benign	0.08
IGL03387:Supt5	APN	7	28320083	missense	possibly damaging	0.89
R0420:Supt5	UTSW	7	28317329	splice site	probably benign
R0715:Supt5	UTSW	7	28329037	missense	probably damaging	1.00
R1226:Supt5	UTSW	7	28328747	missense	probably benign	0.03
R1655:Supt5	UTSW	7	28330024	missense	probably benign	0.00
R1801:Supt5	UTSW	7	28317214	critical splice donor site	probably null
R2424:Supt5	UTSW	7	28315165	missense	possibly damaging	0.47
R4280:Supt5	UTSW	7	28317073	missense	probably damaging	1.00
R4614:Supt5	UTSW	7	28325972	missense	possibly damaging	0.65
R4792:Supt5	UTSW	7	28316329	missense	probably benign	0.19
R4997:Supt5	UTSW	7	28316037	missense	probably benign	0.05
R5041:Supt5	UTSW	7	28315380	missense	probably damaging	1.00
R5062:Supt5	UTSW	7	28329015	splice site	probably null
R5119:Supt5	UTSW	7	28316370	missense	probably damaging	1.00
R5170:Supt5	UTSW	7	28316083	missense	probably benign	0.05
R5687:Supt5	UTSW	7	28317763	missense	probably benign	0.27
R5720:Supt5	UTSW	7	28322568	missense	probably damaging	0.97
R5935:Supt5	UTSW	7	28329475	missense	probably benign	0.09
R6032:Supt5	UTSW	7	28316175	missense	probably damaging	1.00
R6032:Supt5	UTSW	7	28316175	missense	probably damaging	1.00
R6049:Supt5	UTSW	7	28315197	missense	probably benign	0.32
R7043:Supt5	UTSW	7	28320010	missense	probably benign	0.00
R7085:Supt5	UTSW	7	28331489	missense	unknown
R7152:Supt5	UTSW	7	28323900	missense	probably benign	0.00
R7201:Supt5	UTSW	7	28316788	missense	probably benign	0.03
R7401:Supt5	UTSW	7	28323772	missense	probably damaging	0.99
R7959:Supt5	UTSW	7	28315799	missense	probably benign	0.43
R8181:Supt5	UTSW	7	28331474	missense	unknown
R8998:Supt5	UTSW	7	28338423	missense	unknown
R8999:Supt5	UTSW	7	28338423	missense	unknown
R9021:Supt5	UTSW	7	28317246	missense	probably damaging	0.98
R9314:Supt5	UTSW	7	28320374	missense	probably damaging	0.99
R9345:Supt5	UTSW	7	28316987	missense	probably benign	0.03
R9477:Supt5	UTSW	7	28326075	missense	probably damaging	0.99
R9568:Supt5	UTSW	7	28315263	missense	probably damaging	1.00
Z1177:Supt5	UTSW	7	28317031	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCAGACCTGTCTCCTCACTAAG -3'
(R):5'- AGCTTCCTTGGACAGATGTGG -3'

Sequencing Primer
(F):5'- AGACCTGTCTCCTCACTAAGTCATG -3'
(R):5'- GGGCAGACTGACTTTCCTTCATG -3'

Posted On

2015-01-23