Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03115:Supt3'

419362

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 #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

45088039-45430177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45352114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 271 (C271W)

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: C271W

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

SMART Domains

Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954
AA Change: C271W

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: C271W

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

SMART Domains

Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954
AA Change: C271W

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: C264W

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954
AA Change: C264W

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,808,802 (GRCm39)	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,422 (GRCm39)	C595S	probably damaging	Het
Arid2	G	A	15: 96,268,154 (GRCm39)	V756I	probably damaging	Het
Asah1	A	T	8: 41,813,336 (GRCm39)	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,822,973 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,228,663 (GRCm39)	D162G	probably damaging	Het
Clasp1	G	T	1: 118,429,053 (GRCm39)	E106*	probably null	Het
Col12a1	T	C	9: 79,588,719 (GRCm39)	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,710,182 (GRCm39)	H196N	probably benign	Het
Eps8	T	C	6: 137,504,379 (GRCm39)	D118G	probably damaging	Het
Fmo9	A	G	1: 166,505,220 (GRCm39)	S7P	probably damaging	Het
Gamt	A	G	10: 80,094,272 (GRCm39)	L197P	probably damaging	Het
Grb7	A	G	11: 98,341,945 (GRCm39)	I82V	probably damaging	Het
Hectd2	T	C	19: 36,577,121 (GRCm39)		probably null	Het
Ilk	T	C	7: 105,389,542 (GRCm39)	V83A	probably damaging	Het
Kif21a	T	A	15: 90,869,598 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	G	7: 139,501,425 (GRCm39)	I905V	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Morc3	T	C	16: 93,667,971 (GRCm39)	I710T	probably damaging	Het
Nefm	T	C	14: 68,357,728 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,862,040 (GRCm39)	E9G	probably damaging	Het
Or2f2	A	G	6: 42,767,599 (GRCm39)	T209A	probably benign	Het
Or8g23	C	A	9: 38,971,259 (GRCm39)	R234S	probably damaging	Het
Pard6g	T	G	18: 80,123,068 (GRCm39)	L34W	probably damaging	Het
Patj	C	T	4: 98,332,040 (GRCm39)	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,164,883 (GRCm39)	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,825,670 (GRCm39)	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,470,033 (GRCm39)	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,046,641 (GRCm39)		probably benign	Het
Poldip2	T	C	11: 78,411,970 (GRCm39)		probably benign	Het
Ralgapa2	T	C	2: 146,266,734 (GRCm39)	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,403,145 (GRCm39)		probably null	Het
Samd3	C	T	10: 26,147,606 (GRCm39)	T427M	probably damaging	Het
Skap1	A	G	11: 96,593,446 (GRCm39)	I98V	probably benign	Het
Skint11	T	C	4: 114,101,820 (GRCm39)	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,126,670 (GRCm39)	E133A	probably damaging	Het
Slc23a2	T	C	2: 131,933,185 (GRCm39)	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,426,403 (GRCm39)	E494V	possibly damaging	Het
Slco1a4	A	T	6: 141,765,329 (GRCm39)	D304E	probably benign	Het
Slco1a4	A	C	6: 141,763,585 (GRCm39)	M377R	probably damaging	Het
Srpk2	T	C	5: 23,729,616 (GRCm39)		probably null	Het
Taar7d	C	A	10: 23,903,539 (GRCm39)	F140L	probably benign	Het
Tmbim7	T	C	5: 3,729,158 (GRCm39)	*225Q	probably null	Het
Tpst1	T	C	5: 130,130,752 (GRCm39)	I74T	probably damaging	Het
Utp3	T	C	5: 88,703,179 (GRCm39)	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,404,558 (GRCm39)	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,327,460 (GRCm39)	I372N	possibly damaging	Het
Wtip	C	T	7: 33,824,958 (GRCm39)	A209T	probably damaging	Het
Zbbx	T	C	3: 74,985,867 (GRCm39)	D395G	probably benign	Het
Zfp273	A	T	13: 67,973,769 (GRCm39)	H299L	probably damaging	Het
Zfp459	G	A	13: 67,556,796 (GRCm39)	R96*	probably null	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
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

2016-08-02