Mutagenetix > Incidental Mutation

Incidental Mutation 'R2697:Gtf3c1'

251192

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

MMRRC Submission

040435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2697 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125243126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1826 (N1826I)

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: N1922I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: N1922I

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 damaging
Transcript: ENSMUST00000205659
AA Change: N1826I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206042

Predicted Effect

probably benign
Transcript: ENSMUST00000206183

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,619 (GRCm39)	S46G	unknown	Het
Acaca	T	A	11: 84,255,239 (GRCm39)	D1932E	probably damaging	Het
Adam7	A	T	14: 68,752,232 (GRCm39)	C417*	probably null	Het
Adgrl4	A	C	3: 151,216,260 (GRCm39)	Q481P	probably damaging	Het
Adra2c	C	A	5: 35,438,042 (GRCm39)	N271K	probably benign	Het
Ahctf1	T	C	1: 179,580,097 (GRCm39)	K2035R	probably damaging	Het
Ano3	T	C	2: 110,625,305 (GRCm39)	T182A	possibly damaging	Het
Armc3	T	C	2: 19,308,746 (GRCm39)	Y805H	probably damaging	Het
BC024139	TCCACCACCACCACCACCAC	TCCACCACCACCACCAC	15: 76,004,393 (GRCm39)		probably benign	Het
Cabp7	C	T	11: 4,688,837 (GRCm39)	R211H	probably damaging	Het
Ccdc117	T	C	11: 5,484,888 (GRCm39)	N112S	possibly damaging	Het
Cep120	C	T	18: 53,873,197 (GRCm39)	D45N	probably benign	Het
Cpsf1	T	C	15: 76,483,529 (GRCm39)	Y872C	probably damaging	Het
Cradd	A	G	10: 95,011,807 (GRCm39)	L111P	probably damaging	Het
Crhr2	A	G	6: 55,079,815 (GRCm39)	L155P	probably damaging	Het
Fgd2	A	T	17: 29,595,895 (GRCm39)	T518S	probably damaging	Het
Gpam	C	T	19: 55,071,641 (GRCm39)	E367K	probably damaging	Het
Kcnq5	T	C	1: 21,549,656 (GRCm39)	E357G	probably damaging	Het
Krt1	T	A	15: 101,755,364 (GRCm39)	D465V	probably damaging	Het
Lcor	T	A	19: 41,572,466 (GRCm39)	V407E	probably benign	Het
Macrod1	T	C	19: 7,174,157 (GRCm39)	V221A	probably damaging	Het
Mbd1	T	C	18: 74,406,688 (GRCm39)	S144P	possibly damaging	Het
Mtfmt	T	C	9: 65,359,303 (GRCm39)	V326A	probably benign	Het
Myo1b	T	C	1: 51,902,517 (GRCm39)	D71G	probably benign	Het
Myo1h	A	G	5: 114,493,274 (GRCm39)	Y705C	probably damaging	Het
Nudt9	T	C	5: 104,212,859 (GRCm39)	W311R	probably damaging	Het
Or11g27	C	T	14: 50,771,238 (GRCm39)	A123V	probably damaging	Het
Or2a57	A	T	6: 43,213,060 (GRCm39)	I173F	probably damaging	Het
Or2h15	A	G	17: 38,441,900 (GRCm39)	F61S	probably damaging	Het
Or6c65	G	A	10: 129,603,793 (GRCm39)	V143I	probably benign	Het
Osbp2	A	T	11: 3,813,407 (GRCm39)	L154Q	probably benign	Het
P3h1	A	G	4: 119,104,377 (GRCm39)	T633A	probably damaging	Het
Polq	T	G	16: 36,862,515 (GRCm39)	L616R	probably damaging	Het
Pon3	A	G	6: 5,232,429 (GRCm39)	L197S	possibly damaging	Het
Rap1gds1	C	T	3: 138,689,482 (GRCm39)		probably null	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rfng	C	A	11: 120,674,865 (GRCm39)		probably benign	Het
Rps6ka2	T	G	17: 7,567,721 (GRCm39)	L728R	probably benign	Het
Slc41a3	C	A	6: 90,619,302 (GRCm39)	N360K	possibly damaging	Het
Sult1e1	T	C	5: 87,726,397 (GRCm39)	N239S	probably damaging	Het
Tacr1	T	A	6: 82,469,578 (GRCm39)	I154N	probably damaging	Het
Tacstd2	T	A	6: 67,512,203 (GRCm39)	H163L	probably benign	Het
Tent5a	T	C	9: 85,206,793 (GRCm39)	D335G	possibly damaging	Het
Tiam1	T	C	16: 89,590,052 (GRCm39)	S1382G	probably benign	Het
Tmem43	A	G	6: 91,456,911 (GRCm39)	E164G	possibly damaging	Het
U2af2	G	A	7: 5,070,545 (GRCm39)	R78H	probably benign	Het
Yipf7	T	A	5: 69,698,483 (GRCm39)	D8V	possibly damaging	Het
Zfp58	G	A	13: 67,639,124 (GRCm39)	H456Y	probably damaging	Het
Zfp799	G	A	17: 33,039,214 (GRCm39)	R351*	probably null	Het
Zfyve9	T	C	4: 108,553,016 (GRCm39)	D715G	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
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'- ATCTGTGGAAGGCATGGAGC -3'
(R):5'- CCTGAGACTGATGCTGAGGAAG -3'

Sequencing Primer
(F):5'- CTACTGTGACTAGGTGAAGCC -3'
(R):5'- ACACTACAGGATGTCCGT -3'

Posted On

2014-12-04