Mutagenetix > Incidental Mutation

Incidental Mutation 'R6009:Gtf3c5'

479629

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

044186-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28456257-28473291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28461177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 312 (D312E)

Ref Sequence

ENSEMBL: ENSMUSP00000109521 (fasta)

Gene Model

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

AlphaFold

Q8R2T8

Predicted Effect

probably benign
Transcript: ENSMUST00000028157
AA Change: D312E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: D312E

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: D312E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: D312E

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

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,700,454 (GRCm39)		probably benign	Het
Afap1	T	C	5: 36,154,904 (GRCm39)	S683P	probably damaging	Het
Chid1	T	A	7: 141,109,493 (GRCm39)	D131V	probably damaging	Het
Clstn2	C	T	9: 97,338,579 (GRCm39)	R860Q	probably benign	Het
Crlf1	A	C	8: 70,956,129 (GRCm39)	K403T	probably damaging	Het
Ctdspl2	T	G	2: 121,819,319 (GRCm39)	N201K	probably benign	Het
Cyb561a3	G	A	19: 10,564,172 (GRCm39)	V171I	possibly damaging	Het
Dazap1	T	C	10: 80,121,138 (GRCm39)		probably benign	Het
Dbf4	G	T	5: 8,453,718 (GRCm39)	Q235K	probably damaging	Het
Dgka	C	T	10: 128,559,548 (GRCm39)	G471D	probably damaging	Het
Fam13b	A	T	18: 34,630,458 (GRCm39)	F100Y	possibly damaging	Het
Flii	A	T	11: 60,611,583 (GRCm39)	L376*	probably null	Het
Fnip1	G	T	11: 54,393,097 (GRCm39)	G487V	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golgb1	G	T	16: 36,735,321 (GRCm39)	A1523S	probably damaging	Het
Gstm4	A	G	3: 107,950,659 (GRCm39)	V114A	possibly damaging	Het
Gtf3c1	A	G	7: 125,246,602 (GRCm39)	F1569S	possibly damaging	Het
Gtpbp1	G	A	15: 79,596,297 (GRCm39)	V149M	probably damaging	Het
Hoxa7	C	T	6: 52,194,367 (GRCm39)	V7M	probably damaging	Het
Il17f	C	T	1: 20,849,510 (GRCm39)		probably null	Het
Ints9	T	C	14: 65,245,531 (GRCm39)	V263A	probably benign	Het
Kansl1l	C	T	1: 66,774,759 (GRCm39)	C689Y	probably benign	Het
Kctd7	G	A	5: 130,174,039 (GRCm39)	G39E	probably damaging	Het
Krt82	T	A	15: 101,453,540 (GRCm39)	D282V	probably benign	Het
Lemd1	G	T	1: 132,155,990 (GRCm39)	E11*	probably null	Het
Maml2	A	G	9: 13,532,294 (GRCm39)	T503A	probably benign	Het
Mief2	A	G	11: 60,622,485 (GRCm39)	T352A	probably benign	Het
Msantd1	C	A	5: 35,075,049 (GRCm39)	T37K	probably benign	Het
Mtus2	A	G	5: 148,243,462 (GRCm39)	E94G	probably damaging	Het
Naaa	A	T	5: 92,407,440 (GRCm39)	L353Q	probably benign	Het
Nek5	T	C	8: 22,610,838 (GRCm39)	E55G	probably benign	Het
Npat	T	C	9: 53,474,749 (GRCm39)	M847T	probably damaging	Het
Nus1	G	A	10: 52,309,539 (GRCm39)	V268I	probably benign	Het
Or51r1	A	G	7: 102,227,801 (GRCm39)	N33S	possibly damaging	Het
Parn	C	T	16: 13,485,428 (GRCm39)	D23N	probably damaging	Het
Pdgfa	T	C	5: 138,964,954 (GRCm39)	E176G	probably damaging	Het
Plcl1	T	A	1: 55,735,405 (GRCm39)	F249I	probably damaging	Het
Plscr5	C	T	9: 92,086,488 (GRCm39)	Q153*	probably null	Het
Polr2b	T	C	5: 77,468,099 (GRCm39)	I133T	probably benign	Het
Polr3c	A	G	3: 96,620,930 (GRCm39)	S463P	probably damaging	Het
Pprc1	A	T	19: 46,060,171 (GRCm39)	I1530L	probably damaging	Het
Prex1	C	T	2: 166,423,904 (GRCm39)	S996N	probably damaging	Het
Rnf169	C	A	7: 99,576,330 (GRCm39)	R291S	possibly damaging	Het
Setd5	A	G	6: 113,087,480 (GRCm39)	K127R	probably damaging	Het
Slc25a26	G	T	6: 94,487,807 (GRCm39)	V89L	probably benign	Het
Slc4a10	A	G	2: 61,877,034 (GRCm39)	T16A	probably benign	Het
Smchd1	A	T	17: 71,747,951 (GRCm39)	H430Q	probably damaging	Het
Ttll7	A	T	3: 146,640,290 (GRCm39)	D503V	probably damaging	Het
Vav2	A	T	2: 27,161,912 (GRCm39)		probably null	Het
Zbtb47	T	C	9: 121,591,937 (GRCm39)	S86P	possibly damaging	Het
Zfp345	A	T	2: 150,314,437 (GRCm39)	C367S	probably damaging	Het
Zfp964	T	A	8: 70,116,106 (GRCm39)	H235Q	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
R6334:Gtf3c5	UTSW	2	28,460,474 (GRCm39)	missense	probably benign	0.00
R6808:Gtf3c5	UTSW	2	28,460,499 (GRCm39)	missense	probably damaging	0.98
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'- CACACATGTGCTGATACTCAAC -3'
(R):5'- AGGCACTGTTGGACTCCTTC -3'

Sequencing Primer
(F):5'- GTGCTGATACTCAACACACAGATAC -3'
(R):5'- GGACAGTTGTCACAGAAACTCCTG -3'

Posted On

2017-06-26