Mutagenetix > Incidental Mutation

Incidental Mutation 'R5286:Gtf3c1'

472479

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

MMRRC Submission

042870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5286 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125240126-125306860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125262580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1093 (T1093M)

Ref Sequence

ENSEMBL: ENSMUSP00000145939 (fasta)

Gene Model

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

AlphaFold

Q8K284

Predicted Effect

probably benign
Transcript: ENSMUST00000055506
AA Change: T1093M

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: T1093M

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

possibly damaging
Transcript: ENSMUST00000205659
AA Change: T1093M

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205827

Predicted Effect

probably benign
Transcript: ENSMUST00000206694

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (64/64)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,358 (GRCm39)	I417V	probably benign	Het
Adad1	T	C	3: 37,119,399 (GRCm39)	V160A	possibly damaging	Het
Adcy7	A	G	8: 89,051,487 (GRCm39)	E869G	probably damaging	Het
Birc6	G	A	17: 74,977,242 (GRCm39)	A4352T	probably damaging	Het
Brd2	T	A	17: 34,334,205 (GRCm39)	T286S	probably damaging	Het
Bsn	G	T	9: 107,988,123 (GRCm39)		probably benign	Het
Cables1	A	G	18: 12,057,884 (GRCm39)	T335A	probably benign	Het
Cacna1d	A	T	14: 30,072,682 (GRCm39)	S98T	possibly damaging	Het
Ccdc181	A	G	1: 164,105,810 (GRCm39)	Y15C	probably damaging	Het
Dlgap4	T	G	2: 156,587,839 (GRCm39)	V39G	probably damaging	Het
Epb41l3	G	A	17: 69,569,268 (GRCm39)	R504H	probably benign	Het
Fbxo7	T	C	10: 85,857,954 (GRCm39)	L23P	probably damaging	Het
Gm42791	A	C	5: 148,887,178 (GRCm39)		probably benign	Het
Gprc5b	A	T	7: 118,582,910 (GRCm39)	F320I	possibly damaging	Het
Hddc3	G	T	7: 79,993,543 (GRCm39)	R83L	probably damaging	Het
Iars2	T	C	1: 185,055,318 (GRCm39)		probably benign	Het
Ift25	T	A	4: 107,136,998 (GRCm39)	I132N	probably damaging	Het
Igfn1	T	C	1: 135,895,599 (GRCm39)	K1656E	probably benign	Het
Itk	A	C	11: 46,228,926 (GRCm39)		probably null	Het
Klra6	G	A	6: 129,995,932 (GRCm39)	T142I	probably benign	Het
Knop1	C	T	7: 118,454,993 (GRCm39)	A3T	probably damaging	Het
Lamc3	A	G	2: 31,808,608 (GRCm39)	H788R	probably damaging	Het
Lrif1	A	G	3: 106,639,859 (GRCm39)	R315G	probably damaging	Het
Mfap3l	A	G	8: 61,109,903 (GRCm39)	D93G	probably benign	Het
Ngef	T	C	1: 87,473,552 (GRCm39)	S77G	probably benign	Het
Nt5dc3	T	C	10: 86,640,656 (GRCm39)	S13P	probably benign	Het
Or9s13	T	C	1: 92,548,084 (GRCm39)	V152A	probably benign	Het
Pclo	T	C	5: 14,729,761 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,378,368 (GRCm39)	Q1041*	probably null	Het
Ppl	G	A	16: 4,906,987 (GRCm39)	R1103*	probably null	Het
Ppp4r3b	T	A	11: 29,161,667 (GRCm39)	D680E	probably benign	Het
Rasgrf2	T	G	13: 92,267,941 (GRCm39)	K21T	possibly damaging	Het
Rev1	T	A	1: 38,094,407 (GRCm39)	K1004*	probably null	Het
Rgs9	T	G	11: 109,130,277 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,693 (GRCm39)	L86P	probably damaging	Het
Rps13	A	G	7: 115,933,155 (GRCm39)	Y18H	probably damaging	Het
Rxfp2	T	C	5: 149,958,909 (GRCm39)	F33S	probably damaging	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Stard9	T	A	2: 120,532,428 (GRCm39)	V2895D	probably benign	Het
Syn3	T	C	10: 86,187,428 (GRCm39)	N232S	possibly damaging	Het
Taok3	T	A	5: 117,404,140 (GRCm39)	Y772N	probably damaging	Het
Tspan4	A	G	7: 141,062,483 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,684,530 (GRCm39)		probably benign	Het
Vwa3b	T	A	1: 37,084,120 (GRCm39)	W98R	probably damaging	Het
Vwa5b2	A	T	16: 20,415,058 (GRCm39)	D360V	probably damaging	Het
Wdr73	A	T	7: 80,541,557 (GRCm39)	D328E	probably benign	Het
Xpo5	A	G	17: 46,545,406 (GRCm39)	N824S	probably benign	Het
Zbtb2	C	T	10: 4,318,566 (GRCm39)	G487S	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
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'- CACTTTCCTAGGACACTGCTG -3'
(R):5'- CCTGGCAGGAAACATGACTGAG -3'

Sequencing Primer
(F):5'- CTGAACAGGCAGCTCTAGC -3'
(R):5'- GAAACATGACTGAGCCCTGCTTTG -3'

Posted On

2017-04-10