Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03166:Supt3'

411641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Supt3

Ensembl Gene

ENSMUSG00000038954

Gene Name

SPT3, SAGA and STAGA complex component

Synonyms

SPT3L, SPT3, Supt3h, 2310066G22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03166

Quality Score

Status

Chromosome

Chromosomal Location

45088039-45430177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45234106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 48 (A48S)

Ref Sequence

ENSEMBL: ENSMUSP00000121148 (fasta)

Gene Model

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

AlphaFold

Q8BVY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000050630
AA Change: A48S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954
AA Change: A48S

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 damaging
Transcript: ENSMUST00000127798
AA Change: A48S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954
AA Change: A48S

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 benign
Transcript: ENSMUST00000129416
AA Change: A41S

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954
AA Change: A41S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130623

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Ankfn1	G	T	11: 89,429,264 (GRCm39)	A40D	probably benign	Het
Arhgap20	T	A	9: 51,761,077 (GRCm39)	I940K	possibly damaging	Het
Arhgap24	T	C	5: 103,023,552 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,172,308 (GRCm39)	T2103A	probably benign	Het
Cep350	A	G	1: 155,739,346 (GRCm39)	S2166P	possibly damaging	Het
Dlg2	T	C	7: 91,549,938 (GRCm39)		probably benign	Het
Fhip2b	A	T	14: 70,827,616 (GRCm39)	C160S	probably damaging	Het
Fyco1	A	T	9: 123,657,452 (GRCm39)	L908H	probably benign	Het
Gprc5b	C	A	7: 118,583,222 (GRCm39)	A216S	probably benign	Het
Lamc1	A	G	1: 153,208,047 (GRCm39)	V80A	probably benign	Het
Lilra6	T	C	7: 3,915,626 (GRCm39)	I370V	possibly damaging	Het
Lim2	T	A	7: 43,080,047 (GRCm39)	C11*	probably null	Het
Lrp1b	T	A	2: 41,001,050 (GRCm39)	H2058L	probably damaging	Het
Lrp3	G	T	7: 34,901,905 (GRCm39)	L659I	probably benign	Het
Lrrc8a	T	G	2: 30,145,377 (GRCm39)	S64A	probably benign	Het
Lsr	C	T	7: 30,661,522 (GRCm39)		probably null	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Man2c1	T	A	9: 57,046,382 (GRCm39)	V479E	probably damaging	Het
Mtf2	T	A	5: 108,254,586 (GRCm39)	D462E	probably benign	Het
Mx2	T	C	16: 97,347,990 (GRCm39)	I205T	probably damaging	Het
Nos1	T	A	5: 118,052,517 (GRCm39)		probably benign	Het
Optc	C	T	1: 133,831,530 (GRCm39)		probably benign	Het
Or51e2	T	C	7: 102,391,254 (GRCm39)	N319D	probably benign	Het
Orm1	C	A	4: 63,262,831 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,288,940 (GRCm39)	E820G	probably damaging	Het
Pkp1	A	T	1: 135,805,862 (GRCm39)	M612K	probably damaging	Het
Pno1	T	A	11: 17,154,513 (GRCm39)		probably null	Het
Rbm34	T	C	8: 127,697,606 (GRCm39)	Q35R	probably damaging	Het
Ryr3	A	T	2: 112,471,457 (GRCm39)	Y4564*	probably null	Het
Slc34a3	T	C	2: 25,122,186 (GRCm39)	I140V	probably damaging	Het
Slc43a1	T	C	2: 84,687,700 (GRCm39)	I419T	possibly damaging	Het
Sltm	C	A	9: 70,450,251 (GRCm39)	A17E	possibly damaging	Het
Smpdl3b	T	C	4: 132,468,842 (GRCm39)	D125G	probably benign	Het
Snorc	A	C	1: 87,402,933 (GRCm39)		probably benign	Het
Tlr3	A	G	8: 45,855,965 (GRCm39)	F72L	probably benign	Het
Trim36	T	C	18: 46,345,388 (GRCm39)	E15G	probably benign	Het
Tubb4b-ps1	A	T	5: 7,229,965 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,871,331 (GRCm39)	T651A	probably benign	Het
Wdr76	G	T	2: 121,364,787 (GRCm39)	V462F	possibly damaging	Het
Wnk2	C	A	13: 49,224,520 (GRCm39)	G1112*	probably null	Het
Zfp868	A	C	8: 70,064,965 (GRCm39)	C123W	probably damaging	Het
Zyg11b	T	A	4: 108,123,086 (GRCm39)	M294L	probably benign	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
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
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

Posted On

2016-08-02