Mutagenetix > Incidental Mutation

Incidental Mutation 'R3154:Gtf3c5'

263385

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

040605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28456257-28473291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28469548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 119 (T119A)

Ref Sequence

ENSEMBL: ENSMUSP00000109521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028157] [ENSMUST00000113889] [ENSMUST00000139553]

AlphaFold

Q8R2T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028157
AA Change: T119A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: T119A

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 damaging
Transcript: ENSMUST00000113889
AA Change: T119A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: T119A

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

probably benign
Transcript: ENSMUST00000139553

SMART Domains

Protein: ENSMUSP00000135165
Gene: ENSMUSG00000026816

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177012

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,282,744 (GRCm39)	N200H	probably damaging	Het
Abca17	T	A	17: 24,547,720 (GRCm39)	D218V	probably damaging	Het
Ap1b1	T	C	11: 4,973,135 (GRCm39)	V326A	possibly damaging	Het
Bdp1	A	T	13: 100,186,322 (GRCm39)	V1710E	probably damaging	Het
Chrna3	C	T	9: 54,923,334 (GRCm39)	C158Y	probably damaging	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Cobll1	A	T	2: 64,937,394 (GRCm39)	M406K	probably benign	Het
Cyp2d34	T	C	15: 82,501,767 (GRCm39)	K248E	probably benign	Het
Dcdc2a	A	C	13: 25,286,340 (GRCm39)	I125L	probably benign	Het
Dgat1	G	A	15: 76,386,721 (GRCm39)	L439F	probably benign	Het
Disc1	T	A	8: 125,862,043 (GRCm39)	S472T	probably damaging	Het
Dnajb3	C	A	1: 88,132,773 (GRCm39)	V210F	probably benign	Het
Fancd2	A	G	6: 113,570,230 (GRCm39)	S1394G	possibly damaging	Het
Fasn	A	T	11: 120,698,765 (GRCm39)	L2475Q	probably damaging	Het
Fn1	A	T	1: 71,632,242 (GRCm39)	C2335S	probably damaging	Het
Gpld1	T	C	13: 25,127,603 (GRCm39)	S2P	unknown	Het
Gpld1	G	T	13: 25,140,146 (GRCm39)		probably null	Het
Gsc2	G	A	16: 17,732,364 (GRCm39)	R137W	probably damaging	Het
Gsdme	T	C	6: 50,228,343 (GRCm39)	R42G	probably damaging	Het
Hs6st3	T	C	14: 120,106,389 (GRCm39)	S266P	probably damaging	Het
Htr2a	T	C	14: 74,943,262 (GRCm39)	F281L	probably benign	Het
Hus1b	T	C	13: 31,131,236 (GRCm39)	K141R	probably benign	Het
Ireb2	T	C	9: 54,793,230 (GRCm39)		probably null	Het
Klhdc7a	T	A	4: 139,693,024 (GRCm39)	Y641F	probably benign	Het
Kri1	T	C	9: 21,193,190 (GRCm39)	E57G	possibly damaging	Het
Map4	A	G	9: 109,828,860 (GRCm39)	T82A	probably benign	Het
Mthfr	T	G	4: 148,136,061 (GRCm39)	M353R	probably benign	Het
Mtus2	A	G	5: 148,240,083 (GRCm39)		probably benign	Het
Muc5ac	T	A	7: 141,346,473 (GRCm39)		probably null	Het
Myo15a	T	A	11: 60,370,186 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,101,044 (GRCm39)	Q278L	possibly damaging	Het
Pced1b	T	G	15: 97,282,423 (GRCm39)		probably null	Het
Penk	T	C	4: 4,134,152 (GRCm39)	D165G	probably damaging	Het
Pfkm	T	A	15: 98,016,090 (GRCm39)	V90D	probably damaging	Het
Pgk2	T	A	17: 40,519,134 (GRCm39)	D98V	probably damaging	Het
Psg28	C	A	7: 18,160,348 (GRCm39)	A283S	possibly damaging	Het
Rgl3	A	G	9: 21,892,070 (GRCm39)	L338P	probably damaging	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Ros1	T	C	10: 51,927,077 (GRCm39)	H2181R	probably benign	Het
Slc38a11	C	T	2: 65,160,679 (GRCm39)	C305Y	probably damaging	Het
Speg	T	A	1: 75,378,186 (GRCm39)	V798E	probably damaging	Het
Spesp1	G	A	9: 62,189,376 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,286,975 (GRCm39)	Y84*	probably null	Het
Syt2	T	C	1: 134,669,599 (GRCm39)	L80P	possibly damaging	Het
Tra2a	C	T	6: 49,222,446 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,182,580 (GRCm39)	C149S	probably damaging	Het
Vmn2r38	T	C	7: 9,097,689 (GRCm39)	T135A	probably benign	Het
Wipf1	A	G	2: 73,267,834 (GRCm39)	V188A	possibly damaging	Het
Yipf2	G	A	9: 21,501,197 (GRCm39)	A67V	probably benign	Het
Zfp759	A	G	13: 67,286,719 (GRCm39)	E96G	probably benign	Het
Zic3	G	A	X: 57,076,838 (GRCm39)	V100M	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
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
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'- AGGGCATGGACTCACAATC -3'
(R):5'- TTCAGCTGCTTACTGGGTCC -3'

Sequencing Primer
(F):5'- TGGACTCACAATCCGTAAAGG -3'
(R):5'- AGAGGCTCGAACTCTACTTCCG -3'

Posted On

2015-02-05