Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02171:Supt3'

283546

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 #

IGL02171

Quality Score

Status

Chromosome

Chromosomal Location

45088039-45430177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45314043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 144 (I144T)

Ref Sequence

ENSEMBL: ENSMUSP00000050783 (fasta)

Gene Model

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

AlphaFold

Q8BVY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000050630
AA Change: I144T

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

SMART Domains

Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954
AA Change: I144T

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

possibly damaging
Transcript: ENSMUST00000127798
AA Change: I144T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954
AA Change: I144T

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

possibly damaging
Transcript: ENSMUST00000129416
AA Change: I137T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954
AA Change: I137T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,921,237 (GRCm39)	I772M	probably benign	Het
Abcg4	C	A	9: 44,186,306 (GRCm39)		probably benign	Het
Abo	A	G	2: 26,738,969 (GRCm39)	I18T	probably benign	Het
AI661453	C	T	17: 47,777,921 (GRCm39)		probably benign	Het
Apbb1	A	G	7: 105,208,333 (GRCm39)		probably benign	Het
Atp8a1	G	A	5: 67,895,808 (GRCm39)	S557L	probably damaging	Het
Bora	G	T	14: 99,284,758 (GRCm39)	D3Y	probably damaging	Het
Cfap46	T	C	7: 139,246,972 (GRCm39)	D323G	possibly damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Dync1i1	G	T	6: 5,969,498 (GRCm39)	R441L	probably damaging	Het
Ecd	T	A	14: 20,370,895 (GRCm39)	Y608F	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Erlin1	A	G	19: 44,037,555 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,883,040 (GRCm39)	E2524G	probably benign	Het
Garem1	C	T	18: 21,262,298 (GRCm39)	D839N	probably damaging	Het
Gdap1l1	T	A	2: 163,289,470 (GRCm39)	V145E	possibly damaging	Het
Gvin3	G	T	7: 106,200,548 (GRCm39)		noncoding transcript	Het
Hydin	A	T	8: 111,178,590 (GRCm39)	K1062*	probably null	Het
Igkv4-92	T	C	6: 68,732,573 (GRCm39)	D2G	probably benign	Het
Lemd3	T	A	10: 120,769,527 (GRCm39)		probably benign	Het
Mbl1	C	T	14: 40,876,455 (GRCm39)		probably benign	Het
Mdh1	T	C	11: 21,507,438 (GRCm39)		probably benign	Het
Mms19	A	G	19: 41,945,578 (GRCm39)		probably null	Het
Nrxn3	C	A	12: 89,159,933 (GRCm39)	P20T	probably damaging	Het
Nudt1	A	G	5: 140,323,348 (GRCm39)	E100G	probably damaging	Het
Or2y1e	T	A	11: 49,218,862 (GRCm39)	F208Y	possibly damaging	Het
Or9g4	T	A	2: 85,505,285 (GRCm39)	D70V	probably damaging	Het
Palb2	A	C	7: 121,706,809 (GRCm39)	S1083A	probably damaging	Het
Phc2	T	G	4: 128,604,858 (GRCm39)	F198C	probably damaging	Het
Pkhd1l1	A	G	15: 44,379,542 (GRCm39)	D1056G	possibly damaging	Het
Psg17	A	G	7: 18,552,712 (GRCm39)	Y188H	probably damaging	Het
Scn1a	T	A	2: 66,103,543 (GRCm39)	I1906F	probably damaging	Het
Sidt2	C	A	9: 45,864,068 (GRCm39)	R150L	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Trip4	A	G	9: 65,788,332 (GRCm39)	S38P	probably damaging	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdr72	A	T	9: 74,117,816 (GRCm39)	M843L	possibly damaging	Het
Zfp595	T	A	13: 67,464,719 (GRCm39)	N518Y	possibly 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
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
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

2015-04-16