Mutagenetix > Incidental Mutation

Incidental Mutation 'R8123:Gtf3c1'

631607

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

MMRRC Submission

067552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 125303196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055506] [ENSMUST00000069660] [ENSMUST00000124223] [ENSMUST00000148701] [ENSMUST00000205444] [ENSMUST00000205659] [ENSMUST00000206127]

AlphaFold

Q8K284

Predicted Effect

silent
Transcript: ENSMUST00000055506

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777

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: ENSMUST00000069660

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743

Domain	Start	End	E-Value	Type
internal_repeat_3	442	586	9.64e-5	PROSPERO
internal_repeat_2	454	607	1.91e-6	PROSPERO
low complexity region	704	718	N/A	INTRINSIC
Pfam:DUF4457	909	1099	5.1e-43	PFAM
Pfam:DUF4457	1205	1524	8.4e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124223

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743

Domain	Start	End	E-Value	Type
internal_repeat_3	416	560	8.9e-5	PROSPERO
internal_repeat_2	428	581	1.74e-6	PROSPERO
low complexity region	678	692	N/A	INTRINSIC
Pfam:DUF4457	882	1073	1.4e-39	PFAM
Pfam:DUF4457	1179	1498	2.2e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148701

Predicted Effect

silent
Transcript: ENSMUST00000205444

Predicted Effect

silent
Transcript: ENSMUST00000205659

Predicted Effect

probably benign
Transcript: ENSMUST00000206127

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.0%
20x: 97.1%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,805,272 (GRCm39)	V79F	probably damaging	Het
Acvr2a	T	C	2: 48,763,384 (GRCm39)	S143P	probably damaging	Het
Adam22	T	A	5: 8,142,833 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ankhd1	T	C	18: 36,708,136 (GRCm39)	F60S		Het
Cacna1s	A	T	1: 136,035,917 (GRCm39)	I1386F	probably damaging	Het
Cav2	T	A	6: 17,286,992 (GRCm39)	C145*	probably null	Het
Cc2d2a	A	T	5: 43,867,896 (GRCm39)	T847S	probably benign	Het
Ces2g	T	A	8: 105,693,555 (GRCm39)	M412K	probably benign	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,179,704 (GRCm39)	V746A	probably damaging	Het
Dnm3	A	G	1: 161,838,672 (GRCm39)	S230P	probably benign	Het
Dph3	T	C	14: 31,805,157 (GRCm39)	K77R	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fcgr4	A	G	1: 170,847,572 (GRCm39)	I57V	probably benign	Het
Fhad1	A	T	4: 141,712,836 (GRCm39)	I201K	probably benign	Het
Foxc2	C	T	8: 121,843,601 (GRCm39)	A83V	probably damaging	Het
Garnl3	T	C	2: 32,994,950 (GRCm39)	K20E	probably damaging	Het
Gtf2e1	A	T	16: 37,336,105 (GRCm39)	Y290N	possibly damaging	Het
Itga4	G	A	2: 79,146,027 (GRCm39)	S743N	probably benign	Het
Lamp1	A	G	8: 13,217,158 (GRCm39)	I56V	probably benign	Het
Lipt2	A	G	7: 99,808,586 (GRCm39)	D33G	probably benign	Het
Mat2a	A	G	6: 72,411,321 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,064,135 (GRCm39)	E65G	probably benign	Het
Nedd4l	T	C	18: 65,207,845 (GRCm39)	L58P	probably damaging	Het
Ngly1	T	A	14: 16,260,799 (GRCm38)	M161K	probably benign	Het
Nod1	C	T	6: 54,914,391 (GRCm39)	G801R	probably damaging	Het
Npy1r	A	T	8: 67,157,619 (GRCm39)	I310F	probably damaging	Het
Or14j2	G	C	17: 37,885,653 (GRCm39)	H220Q	probably benign	Het
Or5k1b	T	A	16: 58,581,537 (GRCm39)	M1L	possibly damaging	Het
Pde3a	A	T	6: 141,411,917 (GRCm39)	Y497F	probably benign	Het
Pecr	A	T	1: 72,314,094 (GRCm39)	S153T	probably benign	Het
Pi4ka	A	G	16: 17,098,956 (GRCm39)	V1976A		Het
Plrg1	G	A	3: 82,973,237 (GRCm39)	A181T	probably benign	Het
Pou2f2	T	C	7: 24,796,433 (GRCm39)	K322R	possibly damaging	Het
Ppp1r17	T	A	6: 55,999,443 (GRCm39)	D25E	probably damaging	Het
Radil	A	C	5: 142,473,375 (GRCm39)	Y769D	probably damaging	Het
Ric8b	A	G	10: 84,805,737 (GRCm39)	N283D	probably damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Traj39	G	A	14: 54,417,451 (GRCm39)	G11R		Het
Ugt2b36	G	A	5: 87,240,295 (GRCm39)	P30L	probably damaging	Het
Vipr1	C	A	9: 121,498,518 (GRCm39)	P423T	probably damaging	Het
Vps13a	T	C	19: 16,625,066 (GRCm39)	E2731G	probably benign	Het
Zfp451	A	T	1: 33,801,248 (GRCm39)	M1056K	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
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
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'- CTCCTCCAAGAATTACCTGCTG -3'
(R):5'- TCCAGGCTGCAGAGAATAAC -3'

Sequencing Primer
(F):5'- AGGCTTCTACCATTGTACATCGAGG -3'
(R):5'- CTGTCTTAAGAAAACGGCTGC -3'

Posted On

2020-06-30