Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01952:Supt6'

181063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Supt6

Ensembl Gene

ENSMUSG00000002052

Gene Name

SPT6, histone chaperone and transcription elongation factor

Synonyms

SPT6, 5131400N11Rik, Supt6h

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01952

Quality Score

Status

Chromosome

Chromosomal Location

78097575-78136798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78116586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 646 (K646R)

Ref Sequence

ENSEMBL: ENSMUSP00000002121 (fasta)

Gene Model

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

AlphaFold

Q62383

Predicted Effect

probably benign
Transcript: ENSMUST00000002121
AA Change: K646R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: K646R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108314

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astl	T	C	2: 127,184,398 (GRCm39)		probably null	Het
Bod1l	C	T	5: 41,974,297 (GRCm39)	C2339Y	possibly damaging	Het
Celsr1	T	A	15: 85,847,424 (GRCm39)	I1438F	probably benign	Het
Dbr1	T	A	9: 99,464,465 (GRCm39)	N297K	possibly damaging	Het
Dmxl1	A	G	18: 50,023,721 (GRCm39)	H1668R	probably benign	Het
Dnai3	T	C	3: 145,802,918 (GRCm39)	H91R	probably damaging	Het
Dnajb11	A	G	16: 22,684,250 (GRCm39)	E91G	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Grin2d	C	A	7: 45,511,704 (GRCm39)	R247L	probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Hacl1	C	T	14: 31,363,079 (GRCm39)		probably benign	Het
Hivep2	C	A	10: 14,018,075 (GRCm39)	T1854K	possibly damaging	Het
Htr1d	T	C	4: 136,170,872 (GRCm39)	V367A	probably benign	Het
Ifi208	T	C	1: 173,506,597 (GRCm39)	S127P	possibly damaging	Het
Ifngr2	C	T	16: 91,356,876 (GRCm39)	P137S	probably damaging	Het
Lcn9	T	C	2: 25,714,550 (GRCm39)	L138P	probably damaging	Het
Mdn1	T	C	4: 32,723,657 (GRCm39)	V2531A	possibly damaging	Het
Meioc	A	T	11: 102,563,011 (GRCm39)	I70F	possibly damaging	Het
Mideas	G	A	12: 84,220,040 (GRCm39)	P305S	probably benign	Het
Mlph	A	C	1: 90,861,193 (GRCm39)	D276A	probably benign	Het
Myh1	T	A	11: 67,111,218 (GRCm39)		probably null	Het
Nlrp9a	G	A	7: 26,257,444 (GRCm39)	S265N	probably benign	Het
Ofcc1	G	A	13: 40,434,337 (GRCm39)	A22V	probably damaging	Het
Or11j4	T	A	14: 50,630,860 (GRCm39)	F216I	probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prlr	A	G	15: 10,328,428 (GRCm39)	D301G	possibly damaging	Het
Ptk2	T	C	15: 73,101,780 (GRCm39)	E810G	probably damaging	Het
Slco1b2	T	G	6: 141,616,956 (GRCm39)	F430V	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tmem260	C	T	14: 48,709,933 (GRCm39)	A52V	probably damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Vwa5b1	G	A	4: 138,308,528 (GRCm39)	P770S	probably benign	Het
Zfp639	A	G	3: 32,569,496 (GRCm39)	Y18C	probably damaging	Het

Other mutations in Supt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Supt6	APN	11	78,122,007 (GRCm39)	missense	possibly damaging	0.94
IGL01457:Supt6	APN	11	78,111,969 (GRCm39)	missense	probably damaging	1.00
IGL01608:Supt6	APN	11	78,116,309 (GRCm39)	missense	probably damaging	1.00
IGL01739:Supt6	APN	11	78,113,013 (GRCm39)	missense	probably damaging	1.00
IGL01765:Supt6	APN	11	78,112,985 (GRCm39)	missense	probably benign	0.09
IGL01894:Supt6	APN	11	78,113,664 (GRCm39)	missense	probably benign	0.00
IGL02067:Supt6	APN	11	78,121,983 (GRCm39)	missense	probably benign	0.01
IGL02244:Supt6	APN	11	78,123,623 (GRCm39)	missense	possibly damaging	0.92
IGL02267:Supt6	APN	11	78,117,030 (GRCm39)	missense	possibly damaging	0.72
IGL02379:Supt6	APN	11	78,116,195 (GRCm39)	missense	possibly damaging	0.75
IGL02541:Supt6	APN	11	78,117,744 (GRCm39)	missense	probably damaging	0.99
IGL02635:Supt6	APN	11	78,103,565 (GRCm39)	missense	probably damaging	1.00
IGL03347:Supt6	APN	11	78,123,011 (GRCm39)	missense	possibly damaging	0.71
IGL02980:Supt6	UTSW	11	78,116,548 (GRCm39)	missense	probably damaging	1.00
IGL02991:Supt6	UTSW	11	78,116,179 (GRCm39)	missense	probably damaging	1.00
R0145:Supt6	UTSW	11	78,099,062 (GRCm39)	missense	probably benign	0.22
R0371:Supt6	UTSW	11	78,113,983 (GRCm39)	missense	probably benign	0.00
R0452:Supt6	UTSW	11	78,117,829 (GRCm39)	missense	probably damaging	1.00
R0464:Supt6	UTSW	11	78,107,164 (GRCm39)	missense	probably benign	0.33
R0616:Supt6	UTSW	11	78,100,321 (GRCm39)	missense	probably damaging	1.00
R0653:Supt6	UTSW	11	78,116,841 (GRCm39)	missense	probably benign	0.01
R0788:Supt6	UTSW	11	78,098,598 (GRCm39)	unclassified	probably benign
R1103:Supt6	UTSW	11	78,116,299 (GRCm39)	missense	possibly damaging	0.59
R1282:Supt6	UTSW	11	78,119,594 (GRCm39)	missense	possibly damaging	0.83
R1460:Supt6	UTSW	11	78,113,024 (GRCm39)	missense	possibly damaging	0.93
R1508:Supt6	UTSW	11	78,107,029 (GRCm39)	critical splice donor site	probably null
R1850:Supt6	UTSW	11	78,110,703 (GRCm39)	splice site	probably benign
R1854:Supt6	UTSW	11	78,123,366 (GRCm39)	missense	possibly damaging	0.51
R1855:Supt6	UTSW	11	78,123,366 (GRCm39)	missense	possibly damaging	0.51
R2054:Supt6	UTSW	11	78,115,187 (GRCm39)	splice site	probably benign
R2098:Supt6	UTSW	11	78,104,087 (GRCm39)	splice site	probably null
R2146:Supt6	UTSW	11	78,121,758 (GRCm39)	missense	probably damaging	1.00
R2167:Supt6	UTSW	11	78,098,993 (GRCm39)	missense	possibly damaging	0.94
R4621:Supt6	UTSW	11	78,103,572 (GRCm39)	missense	possibly damaging	0.65
R4734:Supt6	UTSW	11	78,115,509 (GRCm39)	missense	probably benign	0.01
R4825:Supt6	UTSW	11	78,098,960 (GRCm39)	missense	possibly damaging	0.84
R5575:Supt6	UTSW	11	78,119,787 (GRCm39)	missense	probably damaging	1.00
R5789:Supt6	UTSW	11	78,124,412 (GRCm39)	missense	unknown
R5889:Supt6	UTSW	11	78,103,574 (GRCm39)	missense	probably damaging	0.98
R6296:Supt6	UTSW	11	78,116,885 (GRCm39)	missense	possibly damaging	0.48
R6297:Supt6	UTSW	11	78,116,885 (GRCm39)	missense	possibly damaging	0.48
R6394:Supt6	UTSW	11	78,121,891 (GRCm39)	missense	probably damaging	1.00
R6702:Supt6	UTSW	11	78,122,626 (GRCm39)	missense	possibly damaging	0.93
R6737:Supt6	UTSW	11	78,122,644 (GRCm39)	missense	probably damaging	0.99
R6751:Supt6	UTSW	11	78,099,775 (GRCm39)	missense	probably benign	0.09
R6853:Supt6	UTSW	11	78,123,656 (GRCm39)	missense	possibly damaging	0.85
R7213:Supt6	UTSW	11	78,122,976 (GRCm39)	missense	probably damaging	1.00
R7259:Supt6	UTSW	11	78,098,442 (GRCm39)	missense	probably damaging	0.99
R7609:Supt6	UTSW	11	78,117,777 (GRCm39)	missense	probably benign	0.01
R7776:Supt6	UTSW	11	78,100,355 (GRCm39)	missense	probably damaging	0.99
R8683:Supt6	UTSW	11	78,108,727 (GRCm39)	missense	probably benign	0.13
R8895:Supt6	UTSW	11	78,103,664 (GRCm39)	missense	probably damaging	0.98
R9097:Supt6	UTSW	11	78,113,100 (GRCm39)	missense	probably benign	0.00
R9175:Supt6	UTSW	11	78,112,052 (GRCm39)	missense	possibly damaging	0.70
R9228:Supt6	UTSW	11	78,116,612 (GRCm39)	missense	probably benign	0.03
R9311:Supt6	UTSW	11	78,116,284 (GRCm39)	missense	probably damaging	1.00
R9476:Supt6	UTSW	11	78,120,290 (GRCm39)	missense	probably damaging	1.00
R9510:Supt6	UTSW	11	78,120,290 (GRCm39)	missense	probably damaging	1.00
R9748:Supt6	UTSW	11	78,108,767 (GRCm39)	missense	probably damaging	0.96
X0067:Supt6	UTSW	11	78,123,501 (GRCm39)	missense	probably benign
Z1176:Supt6	UTSW	11	78,102,662 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07