Mutagenetix > Incidental Mutations

Incidental Mutation 'R5789:Supt6'

448227

Institutional Source

Beutler Lab

Gene Symbol

Supt6

Ensembl Gene

ENSMUSG00000002052

Gene Name

suppressor of Ty 6

Synonyms

SPT6, Supt6h, 5131400N11Rik

MMRRC Submission

043383-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5789 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78206746-78245987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78233586 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 23 (V23A)

Ref Sequence

ENSEMBL: ENSMUSP00000002121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002121]

Predicted Effect

unknown
Transcript: ENSMUST00000002121
AA Change: V23A

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: V23A

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:SPT6_acidic	37	127	8.8e-19	PFAM
low complexity region	146	164	N/A	INTRINSIC
low complexity region	170	189	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC
low complexity region	220	250	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
Pfam:HTH_44	305	432	1.3e-28	PFAM
low complexity region	494	509	N/A	INTRINSIC
YqgFc	779	894	4.27e-21	SMART
Pfam:HHH_7	935	1038	3.1e-55	PFAM
Pfam:HHH_3	966	1036	5.2e-10	PFAM
Pfam:DLD	1051	1159	6.8e-39	PFAM
S1	1221	1282	2.8e-3	SMART
SH2	1332	1421	4.12e-11	SMART
low complexity region	1441	1454	N/A	INTRINSIC
Blast:SH2	1455	1517	9e-19	BLAST
low complexity region	1586	1599	N/A	INTRINSIC
low complexity region	1639	1664	N/A	INTRINSIC

Meta Mutation Damage Score

0.0742

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

97% (61/63)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during pre-implantation development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	T	A	4: 35,226,112		probably benign	Het
Abcb11	A	G	2: 69,245,764	F1200S	probably damaging	Het
Ahnak	A	T	19: 9,002,321	D323V	probably benign	Het
Aloxe3	T	C	11: 69,126,439	Y13H	probably damaging	Het
Aqp1	A	G	6: 55,336,761	I91V	probably benign	Het
Carmil1	A	G	13: 24,121,848	S318P	probably damaging	Het
Cdan1	A	G	2: 120,729,535	F383L	probably benign	Het
Col6a2	T	A	10: 76,604,389	E606V	probably damaging	Het
Col6a5	T	C	9: 105,864,608	T2371A	possibly damaging	Het
Cops3	T	C	11: 59,830,280		probably benign	Het
Coq7	G	T	7: 118,529,706	H35Q	possibly damaging	Het
Cp	T	A	3: 19,957,290	F3I	probably benign	Het
D630003M21Rik	C	T	2: 158,216,814	E389K	possibly damaging	Het
Dclre1c	A	T	2: 3,437,956	Q51L	probably damaging	Het
Dhx37	A	C	5: 125,421,039	I702S	possibly damaging	Het
Dnah3	G	T	7: 119,943,599	A3530D	possibly damaging	Het
Dnajc13	T	C	9: 104,214,188	R635G	probably damaging	Het
Dnhd1	A	G	7: 105,705,010	S3066G	possibly damaging	Het
Doc2b	T	A	11: 75,786,115	H144L	probably damaging	Het
Eif2b3	T	A	4: 117,028,495	I78N	probably damaging	Het
Enpp1	A	T	10: 24,647,239	H767Q	probably benign	Het
Fam180a	C	A	6: 35,313,526	*174L	probably null	Het
Gabra1	A	T	11: 42,182,915		probably benign	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gm16551	T	A	9: 74,849,253		noncoding transcript	Het
Ifi213	C	A	1: 173,568,794		probably benign	Het
Inpp4a	T	C	1: 37,372,329	V358A	possibly damaging	Het
Kmt2a	T	C	9: 44,819,904		probably benign	Het
Mrgprb13	A	T	7: 48,312,198		noncoding transcript	Het
Narfl	T	C	17: 25,781,203	C303R	probably benign	Het
Nckap5	A	G	1: 126,027,702	F371S	probably damaging	Het
Nudcd1	G	A	15: 44,388,483	Q428*	probably null	Het
Pcdhgc5	C	A	18: 37,821,506	P611Q	probably damaging	Het
Plekhb1	A	T	7: 100,645,586	Y193*	probably null	Het
Prrt1	T	C	17: 34,631,957		probably null	Het
Ptpn12	G	A	5: 20,989,015	T753I	possibly damaging	Het
Samsn1	T	C	16: 75,876,448	D180G	probably damaging	Het
Sh2d2a	T	A	3: 87,849,513		probably benign	Het
Skiv2l2	A	T	13: 112,891,285	N680K	probably benign	Het
Slc12a2	T	A	18: 57,912,019		probably null	Het
Socs3	T	A	11: 117,967,782	Q150L	probably benign	Het
Tcf12	T	C	9: 71,885,236	Y119C	probably damaging	Het
Them5	A	G	3: 94,346,601	E210G	probably damaging	Het
Tmem135	A	G	7: 89,196,122	F167S	possibly damaging	Het
Tmem170	A	G	8: 111,866,400	V134A	possibly damaging	Het
Trbv20	A	G	6: 41,188,791	Y50C	probably damaging	Het
Uroc1	A	G	6: 90,344,197	M252V	probably damaging	Het
Wasf1	G	A	10: 40,926,574	R75Q	probably damaging	Het
Xpnpep3	T	A	15: 81,415,864		probably benign	Het
Yars	C	T	4: 129,196,897	T78M	probably damaging	Het
Zdhhc16	T	A	19: 41,938,133	H98Q	probably damaging	Het
Zfp90	T	C	8: 106,423,973	L106P	probably benign	Het
Zscan22	T	G	7: 12,903,926	S82A	probably benign	Het

Other mutations in Supt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Supt6	APN	11	78231181	missense	possibly damaging	0.94
IGL01457:Supt6	APN	11	78221143	missense	probably damaging	1.00
IGL01608:Supt6	APN	11	78225483	missense	probably damaging	1.00
IGL01739:Supt6	APN	11	78222187	missense	probably damaging	1.00
IGL01765:Supt6	APN	11	78222159	missense	probably benign	0.09
IGL01894:Supt6	APN	11	78222838	missense	probably benign	0.00
IGL01952:Supt6	APN	11	78225760	missense	probably benign	0.01
IGL02067:Supt6	APN	11	78231157	missense	probably benign	0.01
IGL02244:Supt6	APN	11	78232797	missense	possibly damaging	0.92
IGL02267:Supt6	APN	11	78226204	missense	possibly damaging	0.72
IGL02379:Supt6	APN	11	78225369	missense	possibly damaging	0.75
IGL02541:Supt6	APN	11	78226918	missense	probably damaging	0.99
IGL02635:Supt6	APN	11	78212739	missense	probably damaging	1.00
IGL03347:Supt6	APN	11	78232185	missense	possibly damaging	0.71
IGL02980:Supt6	UTSW	11	78225722	missense	probably damaging	1.00
IGL02991:Supt6	UTSW	11	78225353	missense	probably damaging	1.00
R0145:Supt6	UTSW	11	78208236	missense	probably benign	0.22
R0371:Supt6	UTSW	11	78223157	missense	probably benign	0.00
R0452:Supt6	UTSW	11	78227003	missense	probably damaging	1.00
R0464:Supt6	UTSW	11	78216338	missense	probably benign	0.33
R0616:Supt6	UTSW	11	78209495	missense	probably damaging	1.00
R0653:Supt6	UTSW	11	78226015	missense	probably benign	0.01
R0788:Supt6	UTSW	11	78207772	unclassified	probably benign
R1103:Supt6	UTSW	11	78225473	missense	possibly damaging	0.59
R1282:Supt6	UTSW	11	78228768	missense	possibly damaging	0.83
R1460:Supt6	UTSW	11	78222198	missense	possibly damaging	0.93
R1508:Supt6	UTSW	11	78216203	critical splice donor site	probably null
R1850:Supt6	UTSW	11	78219877	splice site	probably benign
R1854:Supt6	UTSW	11	78232540	missense	possibly damaging	0.51
R1855:Supt6	UTSW	11	78232540	missense	possibly damaging	0.51
R2054:Supt6	UTSW	11	78224361	splice site	probably benign
R2098:Supt6	UTSW	11	78213261	splice site	probably null
R2146:Supt6	UTSW	11	78230932	missense	probably damaging	1.00
R2167:Supt6	UTSW	11	78208167	missense	possibly damaging	0.94
R4621:Supt6	UTSW	11	78212746	missense	possibly damaging	0.65
R4734:Supt6	UTSW	11	78224683	missense	probably benign	0.01
R4825:Supt6	UTSW	11	78208134	missense	possibly damaging	0.84
R5575:Supt6	UTSW	11	78228961	missense	probably damaging	1.00
R5889:Supt6	UTSW	11	78212748	missense	probably damaging	0.98
R6296:Supt6	UTSW	11	78226059	missense	possibly damaging	0.48
R6297:Supt6	UTSW	11	78226059	missense	possibly damaging	0.48
R6394:Supt6	UTSW	11	78231065	missense	probably damaging	1.00
R6702:Supt6	UTSW	11	78231800	missense	possibly damaging	0.93
R6737:Supt6	UTSW	11	78231818	missense	probably damaging	0.99
R6751:Supt6	UTSW	11	78208949	missense	probably benign	0.09
R6853:Supt6	UTSW	11	78232830	missense	possibly damaging	0.85
R7213:Supt6	UTSW	11	78232150	missense	probably damaging	1.00
R7259:Supt6	UTSW	11	78207616	missense	probably damaging	0.99
R7609:Supt6	UTSW	11	78226951	missense	probably benign	0.01
R7776:Supt6	UTSW	11	78209529	missense	probably damaging	0.99
X0067:Supt6	UTSW	11	78232675	missense	probably benign
Z1176:Supt6	UTSW	11	78211836	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTTCTCAAGCTGGTACCTC -3'
(R):5'- GCCCTCTTTAAAACCGTGTGTC -3'

Sequencing Primer
(F):5'- TCAAGCTGGTACCTCATGTG -3'
(R):5'- ACCTCCTGAGTGCTGGCATTAAAG -3'

Posted On

2016-12-15