Mutagenetix > Incidental Mutation

Incidental Mutation 'R6009:Gtf3c1'

479650

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

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

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125246602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1569 (F1569S)

Ref Sequence

ENSEMBL: ENSMUSP00000056719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055506] [ENSMUST00000205659] [ENSMUST00000206183]

AlphaFold

Q8K284

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055506
AA Change: F1569S

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: F1569S

Domain	Start	End	E-Value	Type
Pfam:B-block_TFIIIC	174	250	5.1e-20	PFAM
low complexity region	344	354	N/A	INTRINSIC
low complexity region	474	514	N/A	INTRINSIC
low complexity region	538	549	N/A	INTRINSIC
low complexity region	592	604	N/A	INTRINSIC
low complexity region	725	745	N/A	INTRINSIC
low complexity region	859	872	N/A	INTRINSIC
low complexity region	1158	1173	N/A	INTRINSIC
low complexity region	1359	1372	N/A	INTRINSIC
low complexity region	1423	1443	N/A	INTRINSIC
low complexity region	1585	1620	N/A	INTRINSIC
low complexity region	1895	1915	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206042

Predicted Effect

probably benign
Transcript: ENSMUST00000206183

Meta Mutation Damage Score

0.2721

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]

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
Gtf3c5	A	T	2: 28,461,177 (GRCm39)	D312E	probably benign	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 Gtf3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Gtf3c1	APN	7	125,243,430 (GRCm39)	missense	probably benign	0.15
IGL00535:Gtf3c1	APN	7	125,243,325 (GRCm39)	missense	probably benign	0.00
IGL00778:Gtf3c1	APN	7	125,266,546 (GRCm39)	missense	probably damaging	1.00
IGL00832:Gtf3c1	APN	7	125,253,632 (GRCm39)	splice site	probably benign
IGL01383:Gtf3c1	APN	7	125,298,672 (GRCm39)	missense	probably damaging	1.00
IGL01472:Gtf3c1	APN	7	125,250,226 (GRCm39)	splice site	probably benign
IGL01743:Gtf3c1	APN	7	125,262,587 (GRCm39)	missense	probably damaging	1.00
IGL01867:Gtf3c1	APN	7	125,261,548 (GRCm39)	missense	probably benign	0.44
IGL02016:Gtf3c1	APN	7	125,267,211 (GRCm39)	missense	probably damaging	1.00
IGL02096:Gtf3c1	APN	7	125,258,284 (GRCm39)	missense	probably damaging	0.98
IGL02121:Gtf3c1	APN	7	125,245,903 (GRCm39)	nonsense	probably null
IGL02226:Gtf3c1	APN	7	125,267,162 (GRCm39)	splice site	probably null
IGL02376:Gtf3c1	APN	7	125,268,168 (GRCm39)	missense	probably benign	0.41
IGL02581:Gtf3c1	APN	7	125,245,687 (GRCm39)	missense	possibly damaging	0.80
IGL02750:Gtf3c1	APN	7	125,275,684 (GRCm39)	missense	probably damaging	1.00
IGL03063:Gtf3c1	APN	7	125,245,675 (GRCm39)	missense	possibly damaging	0.72
IGL03167:Gtf3c1	APN	7	125,269,752 (GRCm39)	critical splice acceptor site	probably null
R0052:Gtf3c1	UTSW	7	125,267,143 (GRCm39)	splice site	probably null
R0266:Gtf3c1	UTSW	7	125,243,306 (GRCm39)	missense	possibly damaging	0.83
R0378:Gtf3c1	UTSW	7	125,246,786 (GRCm39)	nonsense	probably null
R0387:Gtf3c1	UTSW	7	125,280,276 (GRCm39)	missense	probably damaging	1.00
R0426:Gtf3c1	UTSW	7	125,262,188 (GRCm39)	nonsense	probably null
R0458:Gtf3c1	UTSW	7	125,243,306 (GRCm39)	missense	possibly damaging	0.83
R0613:Gtf3c1	UTSW	7	125,243,306 (GRCm39)	missense	possibly damaging	0.83
R0634:Gtf3c1	UTSW	7	125,256,649 (GRCm39)	unclassified	probably benign
R0658:Gtf3c1	UTSW	7	125,298,134 (GRCm39)	missense	probably damaging	1.00
R0904:Gtf3c1	UTSW	7	125,268,014 (GRCm39)	splice site	probably benign
R1051:Gtf3c1	UTSW	7	125,306,821 (GRCm39)	missense	probably damaging	1.00
R1481:Gtf3c1	UTSW	7	125,292,310 (GRCm39)	critical splice donor site	probably null
R1590:Gtf3c1	UTSW	7	125,275,833 (GRCm39)	missense	possibly damaging	0.90
R1782:Gtf3c1	UTSW	7	125,266,246 (GRCm39)	missense	probably damaging	1.00
R1981:Gtf3c1	UTSW	7	125,243,444 (GRCm39)	missense	possibly damaging	0.96
R2513:Gtf3c1	UTSW	7	125,280,345 (GRCm39)	missense	probably benign	0.01
R2697:Gtf3c1	UTSW	7	125,243,126 (GRCm39)	missense	probably damaging	0.98
R3963:Gtf3c1	UTSW	7	125,292,397 (GRCm39)	splice site	probably null
R4125:Gtf3c1	UTSW	7	125,246,622 (GRCm39)	nonsense	probably null
R4127:Gtf3c1	UTSW	7	125,246,622 (GRCm39)	nonsense	probably null
R4646:Gtf3c1	UTSW	7	125,258,266 (GRCm39)	missense	possibly damaging	0.66
R4653:Gtf3c1	UTSW	7	125,273,272 (GRCm39)	missense	probably benign	0.23
R4668:Gtf3c1	UTSW	7	125,266,510 (GRCm39)	missense	probably damaging	1.00
R4803:Gtf3c1	UTSW	7	125,262,712 (GRCm39)	missense	probably damaging	1.00
R5138:Gtf3c1	UTSW	7	125,246,664 (GRCm39)	missense	probably benign	0.05
R5149:Gtf3c1	UTSW	7	125,267,209 (GRCm39)	missense	probably damaging	0.99
R5286:Gtf3c1	UTSW	7	125,262,580 (GRCm39)	missense	possibly damaging	0.79
R5437:Gtf3c1	UTSW	7	125,266,540 (GRCm39)	missense	probably damaging	1.00
R5493:Gtf3c1	UTSW	7	125,269,716 (GRCm39)	missense	probably damaging	1.00
R5610:Gtf3c1	UTSW	7	125,303,117 (GRCm39)	missense	possibly damaging	0.94
R5656:Gtf3c1	UTSW	7	125,261,826 (GRCm39)	missense	probably benign	0.27
R5754:Gtf3c1	UTSW	7	125,243,237 (GRCm39)	missense	possibly damaging	0.86
R5969:Gtf3c1	UTSW	7	125,244,848 (GRCm39)	missense	possibly damaging	0.91
R6223:Gtf3c1	UTSW	7	125,275,797 (GRCm39)	missense	probably benign	0.01
R6580:Gtf3c1	UTSW	7	125,243,519 (GRCm39)	missense	probably benign	0.02
R6628:Gtf3c1	UTSW	7	125,267,246 (GRCm39)	missense	probably benign	0.04
R6774:Gtf3c1	UTSW	7	125,240,793 (GRCm39)	missense	possibly damaging	0.93
R6781:Gtf3c1	UTSW	7	125,258,369 (GRCm39)	nonsense	probably null
R6978:Gtf3c1	UTSW	7	125,244,706 (GRCm39)	missense	possibly damaging	0.86
R7078:Gtf3c1	UTSW	7	125,244,914 (GRCm39)	missense	possibly damaging	0.95
R7096:Gtf3c1	UTSW	7	125,295,731 (GRCm39)	critical splice acceptor site	probably null
R7146:Gtf3c1	UTSW	7	125,271,993 (GRCm39)	missense	possibly damaging	0.48
R7246:Gtf3c1	UTSW	7	125,268,266 (GRCm39)
R7330:Gtf3c1	UTSW	7	125,303,055 (GRCm39)	missense	probably benign	0.36
R7345:Gtf3c1	UTSW	7	125,244,842 (GRCm39)	missense	probably damaging	1.00
R7480:Gtf3c1	UTSW	7	125,241,713 (GRCm39)	missense	probably benign	0.22
R7490:Gtf3c1	UTSW	7	125,246,663 (GRCm39)	missense	probably damaging	0.98
R7555:Gtf3c1	UTSW	7	125,244,842 (GRCm39)	missense	probably damaging	1.00
R7895:Gtf3c1	UTSW	7	125,271,994 (GRCm39)	missense	possibly damaging	0.94
R7949:Gtf3c1	UTSW	7	125,250,253 (GRCm39)	missense	probably benign
R8123:Gtf3c1	UTSW	7	125,303,196 (GRCm39)	start gained	probably benign
R8295:Gtf3c1	UTSW	7	125,262,234 (GRCm39)	missense	probably benign	0.01
R8421:Gtf3c1	UTSW	7	125,298,142 (GRCm39)	missense	probably damaging	1.00
R8438:Gtf3c1	UTSW	7	125,241,701 (GRCm39)	nonsense	probably null
R8517:Gtf3c1	UTSW	7	125,253,723 (GRCm39)	missense	probably damaging	1.00
R8970:Gtf3c1	UTSW	7	125,272,227 (GRCm39)	unclassified	probably benign
R9005:Gtf3c1	UTSW	7	125,303,069 (GRCm39)	missense	probably benign	0.25
R9156:Gtf3c1	UTSW	7	125,244,949 (GRCm39)	missense	possibly damaging	0.78
R9292:Gtf3c1	UTSW	7	125,273,563 (GRCm39)	intron	probably benign
R9400:Gtf3c1	UTSW	7	125,275,683 (GRCm39)	missense	probably damaging	0.96
R9658:Gtf3c1	UTSW	7	125,306,734 (GRCm39)	missense	probably damaging	1.00
R9660:Gtf3c1	UTSW	7	125,262,199 (GRCm39)	missense	possibly damaging	0.52
X0065:Gtf3c1	UTSW	7	125,240,862 (GRCm39)	missense	probably damaging	1.00
Z1176:Gtf3c1	UTSW	7	125,303,136 (GRCm39)	missense	probably damaging	0.99
Z1177:Gtf3c1	UTSW	7	125,266,294 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- ACTTGCTCAGACTGGATGGC -3'
(R):5'- ATCTGCACTGAATCCTTCCAG -3'

Sequencing Primer
(F):5'- ATGGCTGAGCAGGTAACCC -3'
(R):5'- TCCAGTTCTACGACAGACTGCG -3'

Posted On

2017-06-26