Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Supt6'

700039

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78097575-78136798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78116612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 637 (F637L)

Ref Sequence

ENSEMBL: ENSMUSP00000002121 (fasta)

Gene Model

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

AlphaFold

Q62383

Predicted Effect

probably benign
Transcript: ENSMUST00000002121
AA Change: F637L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: F637L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cd109	A	T	9: 78,577,042 (GRCm39)	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dhh	T	A	15: 98,795,757 (GRCm39)	R133*	probably null	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,352,824 (GRCm39)	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gpld1	A	T	13: 25,136,900 (GRCm39)	S73C	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,212,155 (GRCm39)	M255I	unknown	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tlr9	A	T	9: 106,102,752 (GRCm39)	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,772,622 (GRCm39)	D369E	probably benign	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	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
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
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'- CAGAAATGGTGGTTTGCGTTCC -3'
(R):5'- ACCTTTCAGGAGAGAGCCAAG -3'

Sequencing Primer
(F):5'- TGCGTTCCTGAGAGCTGC -3'
(R):5'- CTTTCAGGAGAGAGCCAAGCTAAAC -3'

Posted On

2022-02-07