Mutagenetix > Incidental Mutation

Incidental Mutation 'R7949:Gtf3c1'

649465

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

MMRRC Submission

045994-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7949 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 125250253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1439 (N1439K)

Ref Sequence

ENSEMBL: ENSMUSP00000056719 (fasta)

Gene Model

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

AlphaFold

Q8K284

Predicted Effect

probably benign
Transcript: ENSMUST00000055506
AA Change: N1439K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: N1439K

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: N1439K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000206183

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,303,353 (GRCm39)	T6111M	probably damaging	Het
Adprhl1	T	G	8: 13,274,225 (GRCm39)	R844S	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,807 (GRCm39)	E115G	possibly damaging	Het
Anp32a	A	G	9: 62,280,948 (GRCm39)	E170G	unknown	Het
Arhgap27	A	G	11: 103,228,595 (GRCm39)	S349P	probably damaging	Het
Asns	T	A	6: 7,685,328 (GRCm39)	I110F	probably damaging	Het
Atad3a	T	C	4: 155,833,152 (GRCm39)	H437R	possibly damaging	Het
Atl2	C	A	17: 80,167,289 (GRCm39)	R244L	probably damaging	Het
Bcl2l14	A	T	6: 134,407,083 (GRCm39)	D222V	probably damaging	Het
Ccdc102a	G	T	8: 95,631,913 (GRCm39)	Q498K	probably damaging	Het
Cdc14b	T	C	13: 64,338,212 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,895,324 (GRCm39)		probably null	Het
Cep162	T	A	9: 87,088,901 (GRCm39)	M994L	probably benign	Het
Ddx18	A	G	1: 121,483,047 (GRCm39)	Y580H	probably damaging	Het
Entpd6	C	A	2: 150,612,197 (GRCm39)		probably null	Het
Fer	T	A	17: 64,440,503 (GRCm39)	S707T	probably damaging	Het
Gabra6	A	G	11: 42,207,826 (GRCm39)	V215A	probably benign	Het
Gm20671	A	G	5: 32,977,288 (GRCm39)	V142A	probably benign	Het
Igbp1b	T	C	6: 138,635,414 (GRCm39)	K10R	probably benign	Het
Ighv5-8	TATATATATATATATATATATATA	TATATATATATATATATATATATATA	12: 113,618,563 (GRCm39)		probably null	Het
Igkv12-44	A	T	6: 69,791,874 (GRCm39)	S30T	probably benign	Het
Immt	A	T	6: 71,851,327 (GRCm39)	R563*	probably null	Het
Jakmip1	A	T	5: 37,339,492 (GRCm39)	Q1231L	probably damaging	Het
Jsrp1	T	C	10: 80,647,906 (GRCm39)	T51A	probably benign	Het
Krtap31-1	A	G	11: 99,799,144 (GRCm39)	T116A	possibly damaging	Het
Lrp8	T	A	4: 107,660,524 (GRCm39)	D61E	probably damaging	Het
Mark2	T	C	19: 7,262,081 (GRCm39)	D311G	probably benign	Het
Men1	C	T	19: 6,388,323 (GRCm39)	S314L	possibly damaging	Het
Nxpe2	T	C	9: 48,234,397 (GRCm39)	N290S	possibly damaging	Het
Or2f2	T	C	6: 42,767,588 (GRCm39)	V205A	possibly damaging	Het
Or5b105	T	A	19: 13,080,610 (GRCm39)		probably null	Het
Pcolce2	A	T	9: 95,576,688 (GRCm39)	T320S	probably benign	Het
Phc2	C	T	4: 128,603,401 (GRCm39)	T177M	probably damaging	Het
Phf21b	G	T	15: 84,676,036 (GRCm39)	P337H	probably damaging	Het
Pinlyp	G	T	7: 24,245,375 (GRCm39)	T15K	probably damaging	Het
Ppox	A	T	1: 171,105,521 (GRCm39)	S307R	probably benign	Het
Ptk7	T	A	17: 46,897,387 (GRCm39)	E315V	possibly damaging	Het
Pxk	T	C	14: 8,144,233 (GRCm38)	I327T	probably damaging	Het
Rabgap1	A	T	2: 37,453,491 (GRCm39)	K973I	probably benign	Het
Rbbp8	A	T	18: 11,851,892 (GRCm39)	I238L	probably benign	Het
Runx2	T	A	17: 45,046,442 (GRCm39)	D109V	possibly damaging	Het
Serpinb6a	G	A	13: 34,107,003 (GRCm39)	S183L	probably benign	Het
Slco1a8	C	A	6: 141,939,991 (GRCm39)	G171C	probably damaging	Het
Sptlc3	T	C	2: 139,467,795 (GRCm39)	I451T	possibly damaging	Het
Sugp1	A	T	8: 70,509,153 (GRCm39)	Y142F	possibly damaging	Het
Sumf2	T	C	5: 129,881,759 (GRCm39)	F98S	probably damaging	Het
Tmem120a	C	T	5: 135,771,220 (GRCm39)	E39K	possibly damaging	Het
Tnxb	C	T	17: 34,936,103 (GRCm39)	P2680L	probably damaging	Het
Zfp78	C	G	7: 6,382,365 (GRCm39)	R472G	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
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'- CACAGCGTGTAAAGCCTTAGG -3'
(R):5'- AGCATTCATAGCAACTTTATGGGAC -3'

Sequencing Primer
(F):5'- AAGCCTTAGGTCTGATCATGGCAC -3'
(R):5'- GCAACTTTATGGGACTGAAATGTC -3'

Posted On

2020-09-15