Mutagenetix > Incidental Mutation

Incidental Mutation 'R6580:Gtf3c1'

524080

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

MMRRC Submission

044704-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125243519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1695 (M1695K)

Ref Sequence

ENSEMBL: ENSMUSP00000145939 (fasta)

Gene Model

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

AlphaFold

Q8K284

Predicted Effect

probably benign
Transcript: ENSMUST00000055506
AA Change: M1791K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: M1791K

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
AA Change: M1695K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206042

Predicted Effect

probably benign
Transcript: ENSMUST00000206183

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (32/33)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,386 (GRCm39)	R525H	probably benign	Het
Acox3	T	A	5: 35,765,747 (GRCm39)	L600Q	probably damaging	Het
Ankrd49	A	G	9: 14,692,694 (GRCm39)	S157P	probably damaging	Het
Ccdc141	A	G	2: 76,842,099 (GRCm39)	F1444S	possibly damaging	Het
Cimap2	G	T	4: 106,468,711 (GRCm39)	H271N	possibly damaging	Het
Defb28	C	T	2: 152,360,215 (GRCm39)	S10L	possibly damaging	Het
Epha6	T	G	16: 59,502,979 (GRCm39)	N976T	probably damaging	Het
Gm45861	A	G	8: 28,034,979 (GRCm39)	K976E	unknown	Het
Gtf2ird1	T	G	5: 134,389,893 (GRCm39)	N920H	probably damaging	Het
Hfm1	C	T	5: 106,995,575 (GRCm39)	E1279K	probably benign	Het
Il31ra	C	T	13: 112,688,476 (GRCm39)	D34N	possibly damaging	Het
Klhl3	T	A	13: 58,166,701 (GRCm39)	I430F	possibly damaging	Het
Mfhas1	A	G	8: 36,056,419 (GRCm39)	Y298C	probably damaging	Het
Muc20	A	T	16: 32,613,859 (GRCm39)	M506K	possibly damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Naip1	T	A	13: 100,581,157 (GRCm39)	D30V	probably damaging	Het
Nol9	A	G	4: 152,136,218 (GRCm39)	N430S	probably benign	Het
Or8b44	T	C	9: 38,410,319 (GRCm39)	M118T	probably damaging	Het
Palm3	A	G	8: 84,756,177 (GRCm39)	E563G	probably damaging	Het
Pcdhga4	A	G	18: 37,820,370 (GRCm39)	S640G	possibly damaging	Het
Pi4ka	A	G	16: 17,168,694 (GRCm39)	F679L	probably damaging	Het
Pierce1	A	G	2: 28,356,062 (GRCm39)	W74R	probably damaging	Het
Polr3c	A	G	3: 96,634,659 (GRCm39)		probably null	Het
Ptdss2	T	A	7: 140,732,925 (GRCm39)	I236N	probably damaging	Het
Rapgef1	A	G	2: 29,620,621 (GRCm39)	Y879C	possibly damaging	Het
Shc3	T	C	13: 51,596,809 (GRCm39)	T405A	probably benign	Het
Smtnl2	G	T	11: 72,293,859 (GRCm39)	S232R	probably benign	Het
Taar8a	G	A	10: 23,952,791 (GRCm39)	A132T	probably damaging	Het
Tex47	T	C	5: 7,355,212 (GRCm39)	I131T	probably damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmn2r130	T	C	17: 23,282,740 (GRCm39)	V140A	probably benign	Het
Vmn2r84	A	G	10: 130,225,110 (GRCm39)	W467R	possibly damaging	Het
Zscan12	T	C	13: 21,553,328 (GRCm39)	L384P	probably 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
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
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'- TTCCTCAGCATCAGTCTCAGG -3'
(R):5'- GCCATAGGTATAGAAAGAGCCC -3'

Sequencing Primer
(F):5'- AGCATCAGTCTCAGGGCAGTG -3'
(R):5'- AAATAGGCCCGTGCAGCTTG -3'

Posted On

2018-06-22