Mutagenetix > Incidental Mutation

Incidental Mutation 'R8243:Supt7l'

637641

Institutional Source

Beutler Lab

Gene Symbol

Supt7l

Ensembl Gene

ENSMUSG00000053134

Gene Name

SPT7-like, STAGA complex gamma subunit

Synonyms

6030455L14Rik, 2610524B01Rik

MMRRC Submission

067648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8243 (G1)

Quality Score

189.009

Status

Validated

Chromosome

Chromosomal Location

31671913-31684106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31673013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 412 (I412V)

Ref Sequence

ENSEMBL: ENSMUSP00000067337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065388] [ENSMUST00000076949] [ENSMUST00000200721] [ENSMUST00000201769] [ENSMUST00000202421]

AlphaFold

Q9CZV5

Predicted Effect

probably benign
Transcript: ENSMUST00000065388
AA Change: I412V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067337
Gene: ENSMUSG00000053134
AA Change: I412V

Domain	Start	End	E-Value	Type
low complexity region	79	89	N/A	INTRINSIC
low complexity region	95	117	N/A	INTRINSIC
BTP	149	228	5.13e-25	SMART
low complexity region	378	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076949

SMART Domains

Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037

Domain	Start	End	E-Value	Type
AAA	18	182	9.44e-4	SMART
low complexity region	263	275	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200721
AA Change: I363V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144294
Gene: ENSMUSG00000053134
AA Change: I363V

Domain	Start	End	E-Value	Type
low complexity region	30	40	N/A	INTRINSIC
low complexity region	46	68	N/A	INTRINSIC
BTP	100	179	5.13e-25	SMART
low complexity region	329	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201769
AA Change: I412V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144065
Gene: ENSMUSG00000053134
AA Change: I412V

Domain	Start	End	E-Value	Type
low complexity region	79	89	N/A	INTRINSIC
low complexity region	95	117	N/A	INTRINSIC
BTP	149	228	5.13e-25	SMART
low complexity region	378	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202421

SMART Domains

Protein: ENSMUSP00000143795
Gene: ENSMUSG00000053134

Domain	Start	End	E-Value	Type
low complexity region	79	89	N/A	INTRINSIC
low complexity region	95	117	N/A	INTRINSIC
BTP	149	228	5.13e-25	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.7%
20x: 96.0%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,015,909 (GRCm39)	H356Q	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl6	C	T	16: 23,786,883 (GRCm39)	C636Y	probably damaging	Het
Cabyr	G	T	18: 12,883,759 (GRCm39)	C82F	probably benign	Het
Clec4a1	T	C	6: 122,901,778 (GRCm39)	V70A	possibly damaging	Het
Col11a1	C	T	3: 113,855,141 (GRCm39)	P134S	unknown	Het
Col27a1	A	G	4: 63,144,120 (GRCm39)	T603A	probably damaging	Het
Col6a6	T	C	9: 105,576,468 (GRCm39)	D1964G	probably damaging	Het
Dnajc8	A	G	4: 132,278,775 (GRCm39)		probably null	Het
E330034G19Rik	T	C	14: 24,358,360 (GRCm39)	Y318H		Het
Efemp1	T	A	11: 28,871,690 (GRCm39)	S402T	probably damaging	Het
Emcn	T	C	3: 137,097,411 (GRCm39)	V110A	possibly damaging	Het
Fgd5	C	T	6: 91,966,004 (GRCm39)	L746F	possibly damaging	Het
Gna13	A	G	11: 109,287,239 (GRCm39)	N354S	probably damaging	Het
Helq	G	T	5: 100,918,348 (GRCm39)	S855R	possibly damaging	Het
Hps5	G	T	7: 46,436,066 (GRCm39)	A160E	probably damaging	Het
Igfbp7	T	A	5: 77,549,339 (GRCm39)	E188V	probably benign	Het
Ivd	A	G	2: 118,702,018 (GRCm39)	Y150C	probably damaging	Het
Jade2	T	C	11: 51,708,045 (GRCm39)	T723A	probably benign	Het
Kif1b	T	C	4: 149,288,724 (GRCm39)	N1239S	probably benign	Het
Klb	A	G	5: 65,536,338 (GRCm39)	N556S	possibly damaging	Het
Klhdc8a	C	T	1: 132,230,304 (GRCm39)	R140C	possibly damaging	Het
Klhl2	T	A	8: 65,202,084 (GRCm39)	M531L	probably benign	Het
Mark3	T	A	12: 111,613,956 (GRCm39)	S546R	possibly damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Musk	G	A	4: 58,293,600 (GRCm39)	R63K	probably benign	Het
Nacad	C	T	11: 6,552,643 (GRCm39)	E183K	probably damaging	Het
Oasl1	T	C	5: 115,066,220 (GRCm39)	Y113H	probably benign	Het
Or10g9b	A	T	9: 39,917,484 (GRCm39)	C254S	probably benign	Het
Or1x2	C	T	11: 50,918,138 (GRCm39)	T103M	probably benign	Het
Or4c111	T	A	2: 88,844,051 (GRCm39)	Y119F	probably benign	Het
Or51ab3	A	T	7: 103,201,205 (GRCm39)	D71V	probably damaging	Het
Or8b56	A	G	9: 38,739,803 (GRCm39)	E272G		Het
P4hb	T	C	11: 120,454,206 (GRCm39)	D296G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhh1	G	A	12: 79,125,843 (GRCm39)	R1293H	probably benign	Het
Prss21	A	G	17: 24,088,376 (GRCm39)	T114A	probably damaging	Het
Ptprn	T	C	1: 75,229,179 (GRCm39)	D776G	probably damaging	Het
Rffl	A	G	11: 82,703,621 (GRCm39)	C101R	probably damaging	Het
Rundc1	A	G	11: 101,316,384 (GRCm39)	D152G	probably benign	Het
Sema6c	A	G	3: 95,079,916 (GRCm39)	T737A	probably damaging	Het
Sppl2c	A	G	11: 104,078,687 (GRCm39)	T496A	probably damaging	Het
Trim38	T	A	13: 23,975,378 (GRCm39)	I439N	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Usp18	G	A	6: 121,246,103 (GRCm39)	R353H	probably benign	Het
Usp42	T	C	5: 143,700,849 (GRCm39)	K1058R	probably benign	Het
Utp25	T	C	1: 192,796,937 (GRCm39)	D598G	probably benign	Het

Other mutations in Supt7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Supt7l	APN	5	31,675,779 (GRCm39)	missense	probably benign	0.24
IGL01727:Supt7l	APN	5	31,677,686 (GRCm39)	missense	possibly damaging	0.75
IGL02111:Supt7l	APN	5	31,673,022 (GRCm39)	splice site	probably null
R0265:Supt7l	UTSW	5	31,673,262 (GRCm39)	missense	probably benign	0.30
R0462:Supt7l	UTSW	5	31,677,640 (GRCm39)	missense	probably damaging	0.99
R1311:Supt7l	UTSW	5	31,677,605 (GRCm39)	missense	probably damaging	1.00
R4790:Supt7l	UTSW	5	31,680,248 (GRCm39)	missense	possibly damaging	0.64
R6029:Supt7l	UTSW	5	31,684,331 (GRCm39)	splice site	probably null
R6891:Supt7l	UTSW	5	31,680,365 (GRCm39)	missense	probably damaging	0.96
R9661:Supt7l	UTSW	5	31,680,403 (GRCm39)	missense	probably damaging	0.99
Z1177:Supt7l	UTSW	5	31,680,150 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGTCAGTATCACAACTCAGCTG -3'
(R):5'- TGGCTCACGTGAAAATGGAAC -3'

Sequencing Primer
(F):5'- AACTCAGCTGCGAACGGTG -3'
(R):5'- AAGGCAATGTGTCTGCGC -3'

Posted On

2020-07-13