Mutagenetix > Incidental Mutation

Incidental Mutation 'R6808:Gtf3c5'

533645

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c5

Ensembl Gene

ENSMUSG00000026816

Gene Name

general transcription factor IIIC, polypeptide 5

Synonyms

TFIIICepsilon, TFiiiC2-63, TFIIIC63, 2700084A09Rik

MMRRC Submission

044921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28456257-28473291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28460499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 367 (K367E)

Ref Sequence

ENSEMBL: ENSMUSP00000028157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028157] [ENSMUST00000113889]

AlphaFold

Q8R2T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028157
AA Change: K367E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: K367E

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Tau95	23	322	2.8e-71	PFAM
coiled coil region	471	494	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113889
AA Change: K367E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: K367E

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Tau95	24	322	1.7e-85	PFAM
coiled coil region	477	500	N/A	INTRINSIC

Meta Mutation Damage Score

0.1007

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,098 (GRCm39)	I53F	probably damaging	Het
Apol7b	T	A	15: 77,308,873 (GRCm39)	D75V	probably damaging	Het
Brd8	C	T	18: 34,741,528 (GRCm39)	A387T	probably damaging	Het
Cacybp	T	C	1: 160,036,169 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,618,875 (GRCm39)	K444E	probably damaging	Het
Cers2	G	A	3: 95,228,320 (GRCm39)	R120H	probably benign	Het
Chd4	T	A	6: 125,099,086 (GRCm39)	C1587S	possibly damaging	Het
Col11a1	A	T	3: 113,888,593 (GRCm39)	K286N	possibly damaging	Het
Creld2	A	G	15: 88,709,413 (GRCm39)	N308S	probably damaging	Het
Cyp2d12	T	C	15: 82,440,934 (GRCm39)	S151P	probably damaging	Het
Dlec1	A	G	9: 118,955,242 (GRCm39)	H642R	probably benign	Het
Eif6	T	C	2: 155,665,206 (GRCm39)	Y151C	probably damaging	Het
Erbb4	A	T	1: 68,079,462 (GRCm39)	M1206K	probably benign	Het
Fam178b	G	A	1: 36,639,216 (GRCm39)	T361M	probably damaging	Het
Fbxo10	A	G	4: 45,059,035 (GRCm39)	F234S	probably benign	Het
Gcc2	A	T	10: 58,094,064 (GRCm39)	E13D	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Ifi204	T	C	1: 173,589,269 (GRCm39)	E54G	probably benign	Het
Kalrn	A	T	16: 33,848,346 (GRCm39)	I492N	probably damaging	Het
Kifbp	T	C	10: 62,410,923 (GRCm39)	N140S	possibly damaging	Het
Map2k5	A	G	9: 63,229,528 (GRCm39)	Y168H	probably benign	Het
Mbip	A	C	12: 56,384,383 (GRCm39)		probably null	Het
Mcmdc2	C	T	1: 10,004,242 (GRCm39)	T574I	probably damaging	Het
Or10a3b	T	C	7: 108,444,747 (GRCm39)	T157A	probably benign	Het
Or52j3	T	G	7: 102,836,511 (GRCm39)	D234E	probably benign	Het
Or5w22	A	T	2: 87,363,285 (GRCm39)	M303L	probably benign	Het
Or8d2	T	A	9: 38,760,085 (GRCm39)	I225N	probably damaging	Het
Or8g33	T	C	9: 39,337,836 (GRCm39)	Y177C	probably damaging	Het
Or9s27	A	T	1: 92,516,768 (GRCm39)	R239W	probably damaging	Het
Pdzd8	A	G	19: 59,287,957 (GRCm39)	*1148Q	probably null	Het
Phactr1	T	A	13: 43,286,445 (GRCm39)	I582N	probably damaging	Het
Phf20l1	T	G	15: 66,502,762 (GRCm39)	L714R	probably damaging	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rcor3	T	C	1: 191,822,179 (GRCm39)	E6G	possibly damaging	Het
Skic3	T	C	13: 76,333,298 (GRCm39)	S1516P	probably damaging	Het
Sptlc2	G	A	12: 87,397,069 (GRCm39)	T239I	possibly damaging	Het
Tmc1	A	T	19: 20,772,880 (GRCm39)	V707D	probably damaging	Het
Tmem63b	T	A	17: 45,971,734 (GRCm39)	E827V	probably benign	Het
Triml1	A	G	8: 43,594,258 (GRCm39)	S58P	probably damaging	Het
Zdbf2	A	G	1: 63,347,687 (GRCm39)	H2022R	possibly damaging	Het

Other mutations in Gtf3c5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Gtf3c5	APN	2	28,459,301 (GRCm39)	splice site	probably null
R0062:Gtf3c5	UTSW	2	28,462,198 (GRCm39)	splice site	probably benign
R0062:Gtf3c5	UTSW	2	28,462,198 (GRCm39)	splice site	probably benign
R0395:Gtf3c5	UTSW	2	28,467,930 (GRCm39)	missense	probably damaging	1.00
R0653:Gtf3c5	UTSW	2	28,468,008 (GRCm39)	missense	probably benign	0.34
R1232:Gtf3c5	UTSW	2	28,461,227 (GRCm39)	missense	probably damaging	1.00
R1828:Gtf3c5	UTSW	2	28,469,694 (GRCm39)	missense	probably damaging	1.00
R2174:Gtf3c5	UTSW	2	28,457,787 (GRCm39)	missense	probably benign	0.26
R3154:Gtf3c5	UTSW	2	28,469,548 (GRCm39)	missense	probably damaging	0.96
R4247:Gtf3c5	UTSW	2	28,461,196 (GRCm39)	missense	probably damaging	1.00
R4612:Gtf3c5	UTSW	2	28,469,596 (GRCm39)	missense	probably benign	0.00
R4673:Gtf3c5	UTSW	2	28,462,236 (GRCm39)	missense	probably benign	0.20
R5092:Gtf3c5	UTSW	2	28,472,885 (GRCm39)	missense	possibly damaging	0.58
R6009:Gtf3c5	UTSW	2	28,461,177 (GRCm39)	missense	probably benign	0.00
R6334:Gtf3c5	UTSW	2	28,460,474 (GRCm39)	missense	probably benign	0.00
R7490:Gtf3c5	UTSW	2	28,461,153 (GRCm39)	missense	probably damaging	1.00
R7544:Gtf3c5	UTSW	2	28,469,554 (GRCm39)	missense	possibly damaging	0.91
R7940:Gtf3c5	UTSW	2	28,458,592 (GRCm39)	missense	possibly damaging	0.91
R8003:Gtf3c5	UTSW	2	28,459,373 (GRCm39)	missense	probably benign	0.03
R8176:Gtf3c5	UTSW	2	28,460,429 (GRCm39)	critical splice donor site	probably null
R8319:Gtf3c5	UTSW	2	28,460,506 (GRCm39)	missense	probably benign	0.00
R9151:Gtf3c5	UTSW	2	28,463,577 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTCCAGGACTTGTCACCAC -3'
(R):5'- TAGCACGTACAACTACAGCCTG -3'

Sequencing Primer
(F):5'- AGATGGCCCTAGTTCCCCATG -3'
(R):5'- TGCCCATCACCGTCAAGAAG -3'

Posted On

2018-09-12