Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03347:Supt6'

419512

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 #

IGL03347

Quality Score

Status

Chromosome

Chromosomal Location

78097575-78136798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78123011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 124 (M124K)

Ref Sequence

ENSEMBL: ENSMUSP00000002121 (fasta)

Gene Model

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

AlphaFold

Q62383

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002121
AA Change: M124K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: M124K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	A	9: 30,870,534 (GRCm39)	S670T	possibly damaging	Het
Adamts9	G	T	6: 92,864,413 (GRCm39)	Y185*	probably null	Het
Ahcyl	A	G	16: 45,974,852 (GRCm39)	V175A	probably benign	Het
Arid3a	T	A	10: 79,787,113 (GRCm39)	S512R	possibly damaging	Het
Atf6b	T	C	17: 34,872,214 (GRCm39)	V524A	probably damaging	Het
Camk2d	A	G	3: 126,590,550 (GRCm39)	T254A	probably damaging	Het
Camsap2	G	T	1: 136,208,724 (GRCm39)	Q923K	possibly damaging	Het
Car10	G	A	11: 92,991,122 (GRCm39)		probably benign	Het
Ccdc39	A	G	3: 33,891,992 (GRCm39)	L160P	probably damaging	Het
Cdh20	A	T	1: 110,065,973 (GRCm39)	D749V	possibly damaging	Het
Cox6a2	A	T	7: 127,804,900 (GRCm39)		probably benign	Het
Cpne1	A	T	2: 155,921,096 (GRCm39)	Y65N	probably damaging	Het
Dnm1	T	C	2: 32,243,199 (GRCm39)	D8G	probably benign	Het
Emsy	A	G	7: 98,259,892 (GRCm39)	S140P	probably damaging	Het
Fam13b	G	A	18: 34,595,104 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,146,737 (GRCm39)	R2720G	probably damaging	Het
Fkbpl	A	G	17: 34,865,287 (GRCm39)		probably benign	Het
Gpr179	A	G	11: 97,242,664 (GRCm39)	L60P	probably damaging	Het
Iftap	A	G	2: 101,413,864 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,239,321 (GRCm39)	S287T	possibly damaging	Het
Kat2b	G	A	17: 53,931,379 (GRCm39)		probably null	Het
Kazald1	A	G	19: 45,066,855 (GRCm39)	D218G	possibly damaging	Het
Mbtd1	A	G	11: 93,814,005 (GRCm39)	E216G	probably benign	Het
Mtmr9	C	A	14: 63,781,016 (GRCm39)	V25L	probably benign	Het
Myo16	A	G	8: 10,426,120 (GRCm39)		probably null	Het
Nfkbil1	A	T	17: 35,439,559 (GRCm39)	V318E	probably damaging	Het
Or2ag15	A	T	7: 106,340,177 (GRCm39)		probably benign	Het
Or5g9	T	C	2: 85,552,151 (GRCm39)	V134A	probably benign	Het
Pidd1	A	G	7: 141,019,081 (GRCm39)	V800A	probably damaging	Het
Ptprs	G	A	17: 56,742,972 (GRCm39)	S390L	probably benign	Het
Ralgapb	G	A	2: 158,307,880 (GRCm39)	V729I	possibly damaging	Het
Sfrp5	T	A	19: 42,187,207 (GRCm39)	M288L	probably benign	Het
Slc26a1	C	A	5: 108,821,676 (GRCm39)	G71V	probably damaging	Het
Srcin1	A	T	11: 97,416,170 (GRCm39)	S1021T	probably damaging	Het
Thada	A	G	17: 84,705,633 (GRCm39)	F1157S	probably damaging	Het
Tmcc2	A	G	1: 132,285,390 (GRCm39)	S424P	probably damaging	Het
Trim37	G	A	11: 87,092,447 (GRCm39)	R752Q	possibly damaging	Het
Unc80	A	T	1: 66,734,625 (GRCm39)	Q238L	probably damaging	Het
Vmn2r23	C	A	6: 123,681,333 (GRCm39)	H80Q	probably benign	Het
Wnt9a	A	T	11: 59,221,740 (GRCm39)	T213S	probably damaging	Het
Zfp953	T	A	13: 67,491,490 (GRCm39)	Q154L	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
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

2016-08-02