Mutagenetix > Incidental Mutation

Incidental Mutation 'R0378:Gtf3c1'

36467

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

MMRRC Submission

038584-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0378 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 125246786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1508 (R1508*)

Ref Sequence

ENSEMBL: ENSMUSP00000056719 (fasta)

Gene Model

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

AlphaFold

Q8K284

Predicted Effect

probably null
Transcript: ENSMUST00000055506
AA Change: R1508*

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: R1508*

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,469,749 (GRCm39)	R651L	probably damaging	Het
Amd1	T	C	10: 40,165,380 (GRCm39)	D317G	possibly damaging	Het
Artn	A	G	4: 117,784,815 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,471,604 (GRCm39)	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,061,662 (GRCm39)	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,805,417 (GRCm39)	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,923,652 (GRCm39)	K330N	probably damaging	Het
Duox2	C	A	2: 122,115,064 (GRCm39)	V1138L	probably benign	Het
Erc2	A	G	14: 27,733,651 (GRCm39)	D567G	probably damaging	Het
Eri2	A	G	7: 119,393,139 (GRCm39)		probably null	Het
Foxa3	A	G	7: 18,757,294 (GRCm39)	Y17H	probably damaging	Het
Fto	T	C	8: 92,200,940 (GRCm39)	S324P	probably damaging	Het
Get3	A	T	8: 85,751,893 (GRCm39)	M1K	probably null	Het
Gls2	T	G	10: 128,043,180 (GRCm39)	L457R	probably benign	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Kif21a	T	C	15: 90,853,977 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,290,404 (GRCm39)	D456G	probably damaging	Het
Mau2	A	G	8: 70,483,305 (GRCm39)	S186P	probably damaging	Het
Msr1	T	C	8: 40,042,423 (GRCm39)	D384G	possibly damaging	Het
Ncf4	T	C	15: 78,137,503 (GRCm39)	V93A	probably damaging	Het
Oas1f	T	G	5: 120,994,489 (GRCm39)	C337G	probably damaging	Het
Or10al3	A	G	17: 38,011,932 (GRCm39)	M124V	probably damaging	Het
Or5p58	A	T	7: 107,694,429 (GRCm39)	F116Y	probably benign	Het
Or6c33	T	A	10: 129,853,872 (GRCm39)	L214H	probably damaging	Het
Pwwp3a	C	A	10: 80,074,713 (GRCm39)		probably null	Het
Rasl10b	T	C	11: 83,309,519 (GRCm39)	S159P	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smg8	C	A	11: 86,971,249 (GRCm39)	D841Y	probably damaging	Het
Sox7	T	C	14: 64,181,398 (GRCm39)	V65A	probably damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Srsf10	A	G	4: 135,590,501 (GRCm39)	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcerg1l	A	G	7: 137,878,384 (GRCm39)	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,145,326 (GRCm39)	W97R	probably damaging	Het
Tmem108	T	C	9: 103,376,856 (GRCm39)	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,887,017 (GRCm39)	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,962,570 (GRCm39)	I82L	probably benign	Het
Wdr6	A	T	9: 108,453,063 (GRCm39)	S273R	probably damaging	Het
Ylpm1	C	T	12: 85,043,850 (GRCm39)		probably benign	Het
Zfp90	G	A	8: 107,152,138 (GRCm39)	R617Q	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
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
R6009:Gtf3c1	UTSW	7	125,246,602 (GRCm39)	missense	possibly damaging	0.66
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'- GGGCTGTCCAAAGAAAATGCCAC -3'
(R):5'- GTCACAAAAGGAGGTTCCTCCCTG -3'

Sequencing Primer
(F):5'- TGCCACCAGGTCATTTGAAG -3'
(R):5'- TGAAAAGACTGGCCCCTTG -3'

Posted On

2013-05-09