Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02750:Gtf3c1'

306264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125275684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 581 (I581F)

Ref Sequence

ENSEMBL: ENSMUSP00000145939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055506] [ENSMUST00000205444] [ENSMUST00000205659]

AlphaFold

Q8K284

Predicted Effect

probably damaging
Transcript: ENSMUST00000055506
AA Change: I581F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: I581F

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: ENSMUST00000205444

Predicted Effect

probably damaging
Transcript: ENSMUST00000205659
AA Change: I581F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205697

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,460,087 (GRCm39)	K884R	probably benign	Het
Ano3	T	A	2: 110,496,329 (GRCm39)		probably benign	Het
Baz2b	C	A	2: 59,799,002 (GRCm39)	S374I	possibly damaging	Het
Brd4	G	A	17: 32,417,353 (GRCm39)		probably benign	Het
Cd3g	C	A	9: 44,882,608 (GRCm39)		probably benign	Het
Ckmt1	C	T	2: 121,194,096 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,132,673 (GRCm39)		probably null	Het
Dkkl1	C	T	7: 44,859,536 (GRCm39)		probably null	Het
Ehmt1	G	A	2: 24,753,881 (GRCm39)	T161I	probably damaging	Het
Ern2	A	G	7: 121,780,629 (GRCm39)		probably benign	Het
Fmnl2	T	C	2: 52,993,709 (GRCm39)	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,157,739 (GRCm39)	S25Y	probably benign	Het
Gemin7	C	T	7: 19,299,344 (GRCm39)	V84M	probably null	Het
Gm17654	A	G	14: 43,815,656 (GRCm39)		probably benign	Het
Grk6	T	C	13: 55,599,356 (GRCm39)	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,731 (GRCm39)	H663R	probably damaging	Het
Herc2	T	A	7: 55,854,127 (GRCm39)		probably benign	Het
Hook3	A	T	8: 26,585,782 (GRCm39)		probably benign	Het
Ints4	T	A	7: 97,166,964 (GRCm39)		probably null	Het
Kpna6	T	C	4: 129,555,170 (GRCm39)	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,869,510 (GRCm39)	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,742,106 (GRCm39)	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,181,431 (GRCm39)	D268G	probably damaging	Het
Mcm6	T	A	1: 128,271,209 (GRCm39)	Q470L	probably damaging	Het
Neb	T	C	2: 52,181,067 (GRCm39)	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,680,738 (GRCm39)	V285L	probably benign	Het
Or10al2	T	A	17: 37,983,500 (GRCm39)	C195*	probably null	Het
Or14a260	T	A	7: 85,984,752 (GRCm39)	N284I	probably damaging	Het
Or4k37	A	G	2: 111,159,633 (GRCm39)	R290G	probably damaging	Het
Pdcd1	A	G	1: 93,967,269 (GRCm39)		probably benign	Het
Pnkp	A	G	7: 44,509,611 (GRCm39)		probably benign	Het
Pou4f2	A	T	8: 79,161,692 (GRCm39)	F304I	probably damaging	Het
Rita1	G	A	5: 120,747,716 (GRCm39)	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,415,588 (GRCm39)	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,480,363 (GRCm39)	T168A	probably benign	Het
Skint5	T	A	4: 113,396,559 (GRCm39)	M1205L	unknown	Het
Sox13	A	C	1: 133,311,534 (GRCm39)	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,074,587 (GRCm39)	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,517,589 (GRCm39)	P710Q	probably damaging	Het
Trpm5	T	C	7: 142,628,221 (GRCm39)	H1018R	possibly damaging	Het
Ubr2	A	T	17: 47,280,208 (GRCm39)	M647K	probably benign	Het
Ubr7	A	T	12: 102,737,537 (GRCm39)	T395S	possibly damaging	Het
Uri1	G	A	7: 37,666,906 (GRCm39)	R176*	probably null	Het
Vmn1r188	A	T	13: 22,272,900 (GRCm39)	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,616,608 (GRCm39)		probably benign	Het
Vmn2r2	C	A	3: 64,024,823 (GRCm39)	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,802,851 (GRCm39)	W62R	probably benign	Het
Zfp24	A	T	18: 24,150,410 (GRCm39)	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236 (GRCm39)	K1254R	probably null	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
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
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

Posted On

2015-04-16