Mutagenetix > Incidental Mutation

Incidental Mutation 'R9064:Supt3'

689175

Institutional Source

Beutler Lab

Gene Symbol

Supt3

Ensembl Gene

ENSMUSG00000038954

Gene Name

SPT3, SAGA and STAGA complex component

Synonyms

SPT3L, SPT3, Supt3h, 2310066G22Rik

MMRRC Submission

068889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9064 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45088039-45430177 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 45305295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050630] [ENSMUST00000127798] [ENSMUST00000129416]

AlphaFold

Q8BVY4

Predicted Effect

probably benign
Transcript: ENSMUST00000050630

SMART Domains

Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:TFIID-18kDa	24	116	4.5e-38	PFAM
low complexity region	274	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127798

SMART Domains

Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:TFIID-18kDa	24	116	9.3e-39	PFAM
low complexity region	274	294	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129416

SMART Domains

Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954

Domain	Start	End	E-Value	Type
Pfam:TFIID-18kDa	17	109	1e-38	PFAM
low complexity region	267	287	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,463,510 (GRCm39)	E598G	probably benign	Het
Adgrb3	T	C	1: 25,570,965 (GRCm39)	E504G	possibly damaging	Het
Ank3	T	C	10: 69,822,185 (GRCm39)	S285P		Het
Ankrd28	G	A	14: 31,454,005 (GRCm39)	H410Y	probably damaging	Het
Armh1	C	A	4: 117,094,855 (GRCm39)	V62L	probably benign	Het
Atp8b1	A	G	18: 64,697,491 (GRCm39)	I451T	probably benign	Het
C2cd3	A	G	7: 100,059,608 (GRCm39)	D245G		Het
Calr3	T	C	8: 73,188,674 (GRCm39)	K151R	possibly damaging	Het
Cenpq	G	A	17: 41,243,731 (GRCm39)	T39I	probably benign	Het
Cep126	T	C	9: 8,103,341 (GRCm39)	D223G	possibly damaging	Het
Chd2	A	T	7: 73,143,279 (GRCm39)	I538K	possibly damaging	Het
Cyp3a41b	C	T	5: 145,514,910 (GRCm39)	R105Q	probably damaging	Het
Dnah6	C	A	6: 73,126,156 (GRCm39)	R1327L	probably benign	Het
Exd2	T	C	12: 80,531,148 (GRCm39)		probably null	Het
Fam118a	T	C	15: 84,930,039 (GRCm39)	V89A	probably damaging	Het
Fbxo40	A	T	16: 36,791,002 (GRCm39)	I36K	probably damaging	Het
Fntb	A	G	12: 76,934,640 (GRCm39)	N170S	probably benign	Het
Frzb	A	G	2: 80,277,052 (GRCm39)	S45P	probably benign	Het
Gm4841	T	C	18: 60,403,961 (GRCm39)	E44G	probably benign	Het
Hecw2	C	A	1: 53,866,045 (GRCm39)	A1539S	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kcnh5	A	T	12: 75,177,727 (GRCm39)	C126*	probably null	Het
Kdm5a	TAGAAGAAG	TAGAAG	6: 120,403,869 (GRCm39)		probably benign	Het
Kremen2	A	G	17: 23,961,736 (GRCm39)	L257P	possibly damaging	Het
Mcat	A	C	15: 83,432,134 (GRCm39)	F245V	probably damaging	Het
Mdm2	T	C	10: 117,538,235 (GRCm39)	I54M	probably benign	Het
Muc4	A	G	16: 32,754,397 (GRCm38)	T1424A	possibly damaging	Het
Mylk3	T	C	8: 86,081,940 (GRCm39)	T416A	probably benign	Het
Nol4	T	A	18: 22,903,850 (GRCm39)	D156V		Het
Nxpe4	T	C	9: 48,309,964 (GRCm39)	V409A	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	G	T	11: 58,899,935 (GRCm39)	T966K		Het
Or10j3b	C	T	1: 173,044,060 (GRCm39)	L281F	possibly damaging	Het
Or10w1	G	A	19: 13,632,719 (GRCm39)	V309M	possibly damaging	Het
Or14c42-ps1	A	G	7: 86,211,371 (GRCm39)	T144A	unknown	Het
Phip	C	T	9: 82,753,540 (GRCm39)	V1735I	probably benign	Het
Pkhd1l1	A	T	15: 44,426,038 (GRCm39)	T3200S	possibly damaging	Het
Prdm4	T	C	10: 85,737,678 (GRCm39)	N496S	probably damaging	Het
Proser1	C	T	3: 53,384,927 (GRCm39)	L270F	probably damaging	Het
Psmd11	T	C	11: 80,336,069 (GRCm39)	V107A	probably damaging	Het
Rassf10	A	T	7: 112,554,315 (GRCm39)	E305D	probably benign	Het
Rbm45	T	C	2: 76,202,446 (GRCm39)	I123T	probably damaging	Het
Rpp25	G	T	9: 57,411,635 (GRCm39)	R39L	probably damaging	Het
Rreb1	A	G	13: 38,115,326 (GRCm39)	N895S	possibly damaging	Het
Sirpa	A	T	2: 129,458,460 (GRCm39)	S359C	possibly damaging	Het
Slc26a9	T	A	1: 131,680,703 (GRCm39)	C83S	probably benign	Het
Spink5	T	G	18: 44,100,193 (GRCm39)	L70R	probably damaging	Het
Stil	T	G	4: 114,898,932 (GRCm39)	N1187K	probably benign	Het
Sucla2	A	T	14: 73,828,303 (GRCm39)	E303D	probably benign	Het
Tmc5	G	T	7: 118,233,270 (GRCm39)	S28I	probably benign	Het
Vps8	T	C	16: 21,288,979 (GRCm39)	V444A	probably damaging	Het

Other mutations in Supt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Supt3	APN	17	45,430,045 (GRCm39)	missense	possibly damaging	0.72
IGL02171:Supt3	APN	17	45,314,043 (GRCm39)	missense	probably damaging	1.00
IGL02954:Supt3	APN	17	45,349,015 (GRCm39)	missense	probably damaging	0.99
IGL03115:Supt3	APN	17	45,352,114 (GRCm39)	missense	probably damaging	1.00
IGL03166:Supt3	APN	17	45,234,106 (GRCm39)	missense	probably damaging	1.00
pottery	UTSW	17	45,352,116 (GRCm39)	nonsense	probably null
R0122:Supt3	UTSW	17	45,314,028 (GRCm39)	missense	probably damaging	1.00
R0245:Supt3	UTSW	17	45,347,662 (GRCm39)	missense	probably benign	0.12
R0517:Supt3	UTSW	17	45,430,158 (GRCm39)	missense	probably benign	0.18
R0539:Supt3	UTSW	17	45,314,018 (GRCm39)	missense	possibly damaging	0.95
R1485:Supt3	UTSW	17	45,347,607 (GRCm39)	missense	probably benign	0.21
R3723:Supt3	UTSW	17	45,305,274 (GRCm39)	missense	probably damaging	0.99
R4540:Supt3	UTSW	17	45,347,662 (GRCm39)	missense	probably benign	0.12
R4570:Supt3	UTSW	17	45,352,116 (GRCm39)	nonsense	probably null
R6429:Supt3	UTSW	17	45,430,030 (GRCm39)	missense	probably benign	0.04
R9314:Supt3	UTSW	17	45,352,250 (GRCm39)	missense	probably benign	0.08
R9638:Supt3	UTSW	17	45,234,133 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- AGGGCCACATTTTCCACTTATAC -3'
(R):5'- TGGAGCTGAGAGTCTTGAGC -3'

Sequencing Primer
(F):5'- ATATCGTCAGGCACTAGTCCATTG -3'
(R):5'- CTTGAGCTCTATAATGTCCCAGAGG -3'

Posted On

2021-11-19