Mutagenetix > Incidental Mutation

Incidental Mutation 'R1282:Supt6'

151067

Institutional Source

Beutler Lab

Gene Symbol

Supt6

Ensembl Gene

ENSMUSG00000002052

Gene Name

SPT6, histone chaperone and transcription elongation factor

Synonyms

SPT6, 5131400N11Rik, Supt6h

MMRRC Submission

039348-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1282 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78097575-78136798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78119594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 404 (T404A)

Ref Sequence

ENSEMBL: ENSMUSP00000002121 (fasta)

Gene Model

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

AlphaFold

Q62383

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002121
AA Change: T404A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: T404A

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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
Acmsd	T	C	1: 127,666,297 (GRCm39)	Y23H	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Atp2a2	G	T	5: 122,629,817 (GRCm39)	T84K	probably benign	Het
Cfap65	T	A	1: 74,964,263 (GRCm39)	T562S	probably benign	Het
Cyp2b10	G	A	7: 25,625,505 (GRCm39)	C436Y	probably damaging	Het
Dnajc7	T	C	11: 100,475,467 (GRCm39)	D381G	probably damaging	Het
Dnase1l3	T	C	14: 7,983,117 (GRCm38)	D129G	probably benign	Het
Espl1	A	G	15: 102,223,826 (GRCm39)	T1126A	probably benign	Het
Exoc3	T	C	13: 74,330,411 (GRCm39)	N506S	probably benign	Het
Fastkd3	C	A	13: 68,732,676 (GRCm39)	N332K	possibly damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Foxp4	G	A	17: 48,186,568 (GRCm39)	P404S	unknown	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm12789	T	A	4: 101,845,487 (GRCm39)	W59R	probably damaging	Het
Greb1l	T	A	18: 10,547,289 (GRCm39)	N1502K	probably benign	Het
H2-K2	A	C	17: 34,218,421 (GRCm39)	I165S	probably damaging	Het
Ipo9	A	G	1: 135,330,030 (GRCm39)	I470T	possibly damaging	Het
Kcnu1	A	T	8: 26,395,985 (GRCm39)	I657F	probably benign	Het
Lrp1b	A	T	2: 40,750,773 (GRCm39)	N2930K	probably damaging	Het
Or56a5	T	A	7: 104,792,859 (GRCm39)	I220F	probably benign	Het
Prag1	T	C	8: 36,567,068 (GRCm39)	V73A	probably damaging	Het
Prrc2b	T	C	2: 32,113,456 (GRCm39)	I1963T	probably damaging	Het
Rep15	C	T	6: 146,934,727 (GRCm39)	R189*	probably null	Het
Resf1	C	T	6: 149,230,670 (GRCm39)	Q1239*	probably null	Het
Rtp3	T	C	9: 110,815,988 (GRCm39)	K188E	probably benign	Het
Scd2	T	C	19: 44,283,620 (GRCm39)	L101P	probably damaging	Het
Scn7a	A	T	2: 66,531,193 (GRCm39)	H561Q	probably damaging	Het
Sfr1	T	C	19: 47,721,407 (GRCm39)	S118P	probably damaging	Het
Slf1	C	T	13: 77,191,959 (GRCm39)	M958I	probably damaging	Het
Snrk	G	T	9: 121,989,586 (GRCm39)	R310L	possibly damaging	Het
Snx11	T	C	11: 96,663,987 (GRCm39)	Y35C	probably damaging	Het
Svep1	C	A	4: 58,100,032 (GRCm39)	L1337F	possibly damaging	Het
Traf3ip2	C	T	10: 39,502,401 (GRCm39)	T183M	probably damaging	Het
Vmn2r28	A	T	7: 5,484,301 (GRCm39)	M633K	probably damaging	Het
Vmn2r67	A	G	7: 84,785,932 (GRCm39)	V691A	probably benign	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
IGL01952:Supt6	APN	11	78,116,586 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCAGTAACAAAGTTAGCCCTGC -3'
(R):5'- GGAACCTGAGCTGCACATCAATGAC -3'

Sequencing Primer
(F):5'- CAGTCCTACCTCTCCATGTCAG -3'
(R):5'- TGCACATCAATGACCTGTGGAG -3'

Posted On

2014-01-29