Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02067:Supt6'

185688

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 #

IGL02067

Quality Score

Status

Chromosome

Chromosomal Location

78097575-78136798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78121983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 223 (Y223F)

Ref Sequence

ENSEMBL: ENSMUSP00000002121 (fasta)

Gene Model

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

AlphaFold

Q62383

Predicted Effect

probably benign
Transcript: ENSMUST00000002121
AA Change: Y223F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: Y223F

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	C	T	5: 107,691,816 (GRCm39)	R36*	probably null	Het
Aplp2	T	A	9: 31,062,191 (GRCm39)	K688N	probably damaging	Het
Arhgef28	G	T	13: 98,213,825 (GRCm39)	Q13K	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Chrna6	A	G	8: 27,894,424 (GRCm39)	S494P	probably damaging	Het
Clcc1	T	A	3: 108,576,037 (GRCm39)	L195H	probably damaging	Het
Coq3	A	G	4: 21,900,397 (GRCm39)	E208G	probably benign	Het
Dock4	T	G	12: 40,884,384 (GRCm39)	S1684A	probably damaging	Het
Duoxa2	G	A	2: 122,131,072 (GRCm39)	V78M	possibly damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Fam8a1	G	T	13: 46,823,324 (GRCm39)	R88L	possibly damaging	Het
Ganc	A	G	2: 120,236,785 (GRCm39)	D23G	probably benign	Het
Gm14305	A	T	2: 176,411,110 (GRCm39)	E53D	probably damaging	Het
Ing5	T	A	1: 93,739,648 (GRCm39)	L58Q	probably damaging	Het
Klrb1-ps1	A	G	6: 129,106,351 (GRCm39)	D164G	probably damaging	Het
Lama2	G	A	10: 27,052,792 (GRCm39)	T1389M	probably benign	Het
Lrp6	A	T	6: 134,457,359 (GRCm39)	I815K	probably damaging	Het
Nek10	A	G	14: 14,861,639 (GRCm38)	D565G	probably benign	Het
Opa1	A	G	16: 29,435,473 (GRCm39)	E641G	probably damaging	Het
Rbm44	T	C	1: 91,080,567 (GRCm39)	S252P	probably damaging	Het
Sbf1	A	G	15: 89,173,247 (GRCm39)	V1810A	probably damaging	Het
Sh3pxd2b	T	C	11: 32,373,095 (GRCm39)	V754A	probably benign	Het
Slc27a6	A	G	18: 58,745,263 (GRCm39)	T566A	probably benign	Het
Stxbp6	C	T	12: 44,908,081 (GRCm39)	R179Q	probably damaging	Het
Tdrd6	T	C	17: 43,939,100 (GRCm39)	I649M	probably damaging	Het
Tecrl	A	T	5: 83,432,122 (GRCm39)	C258S	probably benign	Het
Zfp128	T	C	7: 12,618,977 (GRCm39)	I74T	possibly 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
IGL01952:Supt6	APN	11	78,116,586 (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