Mutagenetix > Incidental Mutations

Incidental Mutation 'R4673:Gtf3c5'

348592

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c5

Ensembl Gene

ENSMUSG00000026816

Gene Name

general transcription factor IIIC, polypeptide 5

Synonyms

TFIIICepsilon, TFIIIC63, 2700084A09Rik, TFiiiC2-63

MMRRC Submission

041928-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28566311-28583751 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28572224 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 282 (I282T)

Ref Sequence

ENSEMBL: ENSMUSP00000109521 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028157
AA Change: I282T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: I282T

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

probably benign
Transcript: ENSMUST00000113889
AA Change: I282T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: I282T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177012

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	C	8: 24,884,455	E507G	probably damaging	Het
Adam39	C	T	8: 40,824,731	T53I	probably benign	Het
Adam4	A	T	12: 81,421,761	S29T	possibly damaging	Het
Adamdec1	C	A	14: 68,577,904	E104*	probably null	Het
Alas1	G	T	9: 106,236,477	P523Q	probably damaging	Het
Aldh3a1	A	G	11: 61,213,494	D69G	probably benign	Het
Arhgap29	T	A	3: 122,014,971	V1266E	probably damaging	Het
Bcdin3d	T	C	15: 99,470,838	D160G	probably damaging	Het
Btaf1	T	A	19: 36,978,372	F569I	probably benign	Het
Cacna1b	A	G	2: 24,631,944	L1718S	probably damaging	Het
Casd1	A	G	6: 4,629,975	Y457C	probably damaging	Het
Creb3	T	C	4: 43,563,192	V97A	probably benign	Het
Cux2	G	T	5: 121,887,476	S43*	probably null	Het
Fam160a1	A	T	3: 85,730,713	V93D	probably damaging	Het
Fsbp	T	G	4: 11,579,841	N36K	probably benign	Het
Gm11565	A	G	11: 99,915,214	D144G	probably benign	Het
Gm7534	G	A	4: 134,200,347	A365V	probably benign	Het
Gpn3	A	G	5: 122,373,918	Y19C	probably damaging	Het
Gstz1	A	T	12: 87,162,063	T148S	probably benign	Het
Hspa2	T	A	12: 76,405,740	S403T	possibly damaging	Het
Il27	G	A	7: 126,591,079	T121I	possibly damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Kctd1	T	A	18: 15,063,227		probably benign	Het
Kynu	A	G	2: 43,679,803	T366A	probably damaging	Het
Lama5	G	A	2: 180,199,266	T507I	probably damaging	Het
Myh11	C	T	16: 14,269,241	V124M	probably damaging	Het
Myh14	T	A	7: 44,624,330	H1331L	probably damaging	Het
Myh2	T	A	11: 67,188,477	L957Q	probably damaging	Het
Myh4	T	C	11: 67,246,401	F483L	probably benign	Het
Nbeal1	A	C	1: 60,329,390	K2631N	probably damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Ogg1	T	C	6: 113,327,307	C28R	probably damaging	Het
Olfr1449	G	A	19: 12,935,097	A120T	probably damaging	Het
Olfr157	T	C	4: 43,836,430	H20R	probably benign	Het
Olfr181	C	T	16: 58,925,690	V294I	possibly damaging	Het
Olfr49	C	T	14: 54,282,332	A188T	possibly damaging	Het
Olfr855	A	G	9: 19,585,430	K298E	possibly damaging	Het
Parp6	G	C	9: 59,640,110	R460P	probably damaging	Het
Phf14	A	G	6: 11,992,057	H744R	probably damaging	Het
Pibf1	A	G	14: 99,133,351	N263S	possibly damaging	Het
Plcb4	A	G	2: 135,932,271	T158A	possibly damaging	Het
Plce1	T	C	19: 38,749,396	S1615P	possibly damaging	Het
Plxna3	T	G	X: 74,338,948		probably null	Het
Rad54b	T	A	4: 11,609,449	H633Q	probably benign	Het
Rgs22	T	A	15: 36,099,933	Y212F	probably benign	Het
Rnd3	G	A	2: 51,132,541	A163V	probably benign	Het
Rnf10	A	T	5: 115,251,089	V315E	probably damaging	Het
Robo2	C	T	16: 73,904,378		probably null	Het
Rp1l1	T	G	14: 64,031,270	V1435G	probably damaging	Het
Scaf8	T	A	17: 3,197,985	D1194E	probably benign	Het
Sept12	T	C	16: 4,991,943	T198A	probably damaging	Het
Shisa2	A	G	14: 59,630,180	T294A	probably damaging	Het
Spta1	A	G	1: 174,191,062		probably null	Het
Strbp	A	T	2: 37,645,679	S6T	probably damaging	Het
Syf2	A	G	4: 134,934,493	E56G	probably damaging	Het
Thap4	T	C	1: 93,714,866		probably benign	Het
Tnfaip3	T	C	10: 19,011,832		probably benign	Het
Tnxb	A	G	17: 34,672,540	E619G	probably damaging	Het
Tpr	G	A	1: 150,423,567	A1173T	probably benign	Het
Tspan3	G	A	9: 56,136,696	R240W	probably damaging	Het
Ubr4	C	T	4: 139,410,716	S1128L	probably damaging	Het
Ucp1	T	C	8: 83,295,247	V236A	probably damaging	Het
Usp34	TCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCAC	11: 23,364,480		probably benign	Het
Zcchc6	G	T	13: 59,796,845	T658K	probably damaging	Het
Zfp940	T	C	7: 29,845,438	D348G	probably benign	Het

Other mutations in Gtf3c5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Gtf3c5	APN	2	28569289	splice site	probably null
R0062:Gtf3c5	UTSW	2	28572186	splice site	probably benign
R0062:Gtf3c5	UTSW	2	28572186	splice site	probably benign
R0395:Gtf3c5	UTSW	2	28577918	missense	probably damaging	1.00
R0653:Gtf3c5	UTSW	2	28577996	missense	probably benign	0.34
R1232:Gtf3c5	UTSW	2	28571215	missense	probably damaging	1.00
R1828:Gtf3c5	UTSW	2	28579682	missense	probably damaging	1.00
R2174:Gtf3c5	UTSW	2	28567775	missense	probably benign	0.26
R3154:Gtf3c5	UTSW	2	28579536	missense	probably damaging	0.96
R4247:Gtf3c5	UTSW	2	28571184	missense	probably damaging	1.00
R4612:Gtf3c5	UTSW	2	28579584	missense	probably benign	0.00
R5092:Gtf3c5	UTSW	2	28582873	missense	possibly damaging	0.58
R6009:Gtf3c5	UTSW	2	28571165	missense	probably benign	0.00
R6334:Gtf3c5	UTSW	2	28570462	missense	probably benign	0.00
R6808:Gtf3c5	UTSW	2	28570487	missense	probably damaging	0.98
R7490:Gtf3c5	UTSW	2	28571141	missense	probably damaging	1.00
R7544:Gtf3c5	UTSW	2	28579542	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACTGCCAGATTAGAAGGTTGTGG -3'
(R):5'- TTAGGAATGACTGGCCGGTG -3'

Sequencing Primer
(F):5'- ATGCTGCCACATGGATGCTAG -3'
(R):5'- TGTGGTAGGTTCCAGACATACAG -3'

Posted On

2015-10-08