Mutagenetix > Incidental Mutation

Incidental Mutation 'R3723:Supt3'

270648

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

040714-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45088039-45430177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45305274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 108 (D108G)

Ref Sequence

ENSEMBL: ENSMUSP00000120197 (fasta)

Gene Model

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

AlphaFold

Q8BVY4

Predicted Effect

probably benign
Transcript: ENSMUST00000050630
AA Change: D115G

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954
AA Change: D115G

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
AA Change: D115G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954
AA Change: D115G

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 damaging
Transcript: ENSMUST00000129416
AA Change: D108G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954
AA Change: D108G

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

Meta Mutation Damage Score

0.1061

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,994,217 (GRCm39)	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,226,276 (GRCm39)	Y510C	probably damaging	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Apob	A	T	12: 8,056,327 (GRCm39)	Q1570L	probably damaging	Het
Apob	A	G	12: 8,061,763 (GRCm39)	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,214,772 (GRCm39)	I361F	probably damaging	Het
C9	G	A	15: 6,512,561 (GRCm39)	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,304,731 (GRCm39)		probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ckap4	A	G	10: 84,364,256 (GRCm39)	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,486,505 (GRCm39)	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658 (GRCm39)	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,221,412 (GRCm39)		probably benign	Het
Glis3	A	T	19: 28,239,991 (GRCm39)	C97*	probably null	Het
Gm14221	C	G	2: 160,410,347 (GRCm39)		noncoding transcript	Het
Gm8603	A	C	17: 13,737,075 (GRCm39)		probably null	Het
Gm9767	G	T	10: 25,954,469 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,807,102 (GRCm39)	F78L	probably damaging	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mipol1	C	A	12: 57,503,878 (GRCm39)	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,374 (GRCm39)	V1527A	probably damaging	Het
Naip5	G	T	13: 100,359,522 (GRCm39)	Y571*	probably null	Het
Npl	A	G	1: 153,391,210 (GRCm39)	F182L	probably benign	Het
Pan3	T	A	5: 147,440,018 (GRCm39)		probably benign	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,796,045 (GRCm39)	T350A	possibly damaging	Het
Pramel28	T	C	4: 143,693,251 (GRCm39)	T76A	probably benign	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Rere	A	G	4: 150,553,252 (GRCm39)	E148G	probably damaging	Het
Scube2	T	C	7: 109,407,613 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,087,335 (GRCm39)	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tnfsf13b	A	G	8: 10,081,545 (GRCm39)	I236V	possibly damaging	Het
Tns1	T	C	1: 73,964,099 (GRCm39)	S1511G	probably damaging	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,617,380 (GRCm39)	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,305,540 (GRCm39)		probably null	Het
Zfp30	A	G	7: 29,492,778 (GRCm39)	E344G	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
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
R9064:Supt3	UTSW	17	45,305,295 (GRCm39)	critical splice donor site	probably null
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'- GTTTCTGCAGGGCCACATTTTC -3'
(R):5'- GAGCTCTATAATGTCCCAGAGGAG -3'

Sequencing Primer
(F):5'- GCAGGGCCACATTTTCCACTTATAC -3'
(R):5'- TCTATAATGTCCCAGAGGAGAAAAAG -3'

Posted On

2015-03-18