Mutagenetix > Incidental Mutations

Incidental Mutation 'R1481:Gtf3c1'

164373

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c1

Ensembl Gene

ENSMUSG00000032777

Gene Name

general transcription factor III C 1

Synonyms

MMRRC Submission

039534-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1481 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

125640954-125707780 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 125693138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145939 (fasta)

Gene Model

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

AlphaFold

Q8K284

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000205347

Predicted Effect

probably benign
Transcript: ENSMUST00000205444

Predicted Effect

probably null
Transcript: ENSMUST00000205659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205697

Predicted Effect

probably benign
Transcript: ENSMUST00000206127

Meta Mutation Damage Score

0.9589

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948		probably benign	Het
Ccdc178	C	T	18: 22,105,621	G313D	probably benign	Het
Cd300ld2	T	A	11: 115,012,633	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866		probably null	Het
Dock6	T	C	9: 21,820,622	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782	*1207W	probably null	Het
Eln	T	C	5: 134,706,572	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227		probably benign	Het
Gpr37	T	C	6: 25,669,138	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089	Y286N	probably damaging	Het
Kcnc4	C	T	3: 107,448,218	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275	F724L	probably benign	Het
Kpnb1	T	C	11: 97,178,310	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,678,374	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499		probably benign	Het
Ncor2	C	A	5: 125,027,138	E963*	probably null	Het
Nol6	T	A	4: 41,123,596	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960	T212I	probably benign	Het
Olfr713	T	G	7: 107,036,149	L5R	probably benign	Het
Orc3	T	A	4: 34,607,228	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,442,836	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548	V1241E	probably null	Het
Prpf39	C	T	12: 65,053,314	P135S	probably damaging	Het
Psrc1	T	C	3: 108,384,993	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034	T424A	probably benign	Het
Ripor3	G	T	2: 168,000,377	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,636,522		probably benign	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602	F218I	possibly damaging	Het
Tpte	A	T	8: 22,355,471	R512S	probably damaging	Het
Trim37	T	A	11: 87,129,759	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790	T259A	probably benign	Het

Other mutations in Gtf3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Gtf3c1	APN	7	125644258	missense	probably benign	0.15
IGL00535:Gtf3c1	APN	7	125644153	missense	probably benign	0.00
IGL00778:Gtf3c1	APN	7	125667374	missense	probably damaging	1.00
IGL00832:Gtf3c1	APN	7	125654460	splice site	probably benign
IGL01383:Gtf3c1	APN	7	125699500	missense	probably damaging	1.00
IGL01472:Gtf3c1	APN	7	125651054	splice site	probably benign
IGL01743:Gtf3c1	APN	7	125663415	missense	probably damaging	1.00
IGL01867:Gtf3c1	APN	7	125662376	missense	probably benign	0.44
IGL02016:Gtf3c1	APN	7	125668039	missense	probably damaging	1.00
IGL02096:Gtf3c1	APN	7	125659112	missense	probably damaging	0.98
IGL02121:Gtf3c1	APN	7	125646731	nonsense	probably null
IGL02226:Gtf3c1	APN	7	125667990	splice site	probably null
IGL02376:Gtf3c1	APN	7	125668996	missense	probably benign	0.41
IGL02581:Gtf3c1	APN	7	125646515	missense	possibly damaging	0.80
IGL02750:Gtf3c1	APN	7	125676512	missense	probably damaging	1.00
IGL03063:Gtf3c1	APN	7	125646503	missense	possibly damaging	0.72
IGL03167:Gtf3c1	APN	7	125670580	critical splice acceptor site	probably null
R0052:Gtf3c1	UTSW	7	125667971	splice site	probably null
R0266:Gtf3c1	UTSW	7	125644134	missense	possibly damaging	0.83
R0378:Gtf3c1	UTSW	7	125647614	nonsense	probably null
R0387:Gtf3c1	UTSW	7	125681104	missense	probably damaging	1.00
R0426:Gtf3c1	UTSW	7	125663016	nonsense	probably null
R0458:Gtf3c1	UTSW	7	125644134	missense	possibly damaging	0.83
R0613:Gtf3c1	UTSW	7	125644134	missense	possibly damaging	0.83
R0634:Gtf3c1	UTSW	7	125657477	unclassified	probably benign
R0658:Gtf3c1	UTSW	7	125698962	missense	probably damaging	1.00
R0904:Gtf3c1	UTSW	7	125668842	splice site	probably benign
R1051:Gtf3c1	UTSW	7	125707649	missense	probably damaging	1.00
R1590:Gtf3c1	UTSW	7	125676661	missense	possibly damaging	0.90
R1782:Gtf3c1	UTSW	7	125667074	missense	probably damaging	1.00
R1981:Gtf3c1	UTSW	7	125644272	missense	possibly damaging	0.96
R2513:Gtf3c1	UTSW	7	125681173	missense	probably benign	0.01
R2697:Gtf3c1	UTSW	7	125643954	missense	probably damaging	0.98
R3963:Gtf3c1	UTSW	7	125693225	splice site	probably null
R4125:Gtf3c1	UTSW	7	125647450	nonsense	probably null
R4127:Gtf3c1	UTSW	7	125647450	nonsense	probably null
R4646:Gtf3c1	UTSW	7	125659094	missense	possibly damaging	0.66
R4653:Gtf3c1	UTSW	7	125674100	missense	probably benign	0.23
R4668:Gtf3c1	UTSW	7	125667338	missense	probably damaging	1.00
R4803:Gtf3c1	UTSW	7	125663540	missense	probably damaging	1.00
R5138:Gtf3c1	UTSW	7	125647492	missense	probably benign	0.05
R5149:Gtf3c1	UTSW	7	125668037	missense	probably damaging	0.99
R5286:Gtf3c1	UTSW	7	125663408	missense	possibly damaging	0.79
R5437:Gtf3c1	UTSW	7	125667368	missense	probably damaging	1.00
R5493:Gtf3c1	UTSW	7	125670544	missense	probably damaging	1.00
R5610:Gtf3c1	UTSW	7	125703945	missense	possibly damaging	0.94
R5656:Gtf3c1	UTSW	7	125662654	missense	probably benign	0.27
R5754:Gtf3c1	UTSW	7	125644065	missense	possibly damaging	0.86
R5969:Gtf3c1	UTSW	7	125645676	missense	possibly damaging	0.91
R6009:Gtf3c1	UTSW	7	125647430	missense	possibly damaging	0.66
R6223:Gtf3c1	UTSW	7	125676625	missense	probably benign	0.01
R6580:Gtf3c1	UTSW	7	125644347	missense	probably benign	0.02
R6628:Gtf3c1	UTSW	7	125668074	missense	probably benign	0.04
R6774:Gtf3c1	UTSW	7	125641621	missense	possibly damaging	0.93
R6781:Gtf3c1	UTSW	7	125659197	nonsense	probably null
R6978:Gtf3c1	UTSW	7	125645534	missense	possibly damaging	0.86
R7078:Gtf3c1	UTSW	7	125645742	missense	possibly damaging	0.95
R7096:Gtf3c1	UTSW	7	125696559	critical splice acceptor site	probably null
R7146:Gtf3c1	UTSW	7	125672821	missense	possibly damaging	0.48
R7246:Gtf3c1	UTSW	7	125669094
R7330:Gtf3c1	UTSW	7	125703883	missense	probably benign	0.36
R7345:Gtf3c1	UTSW	7	125645670	missense	probably damaging	1.00
R7480:Gtf3c1	UTSW	7	125642541	missense	probably benign	0.22
R7490:Gtf3c1	UTSW	7	125647491	missense	probably damaging	0.98
R7555:Gtf3c1	UTSW	7	125645670	missense	probably damaging	1.00
R7895:Gtf3c1	UTSW	7	125672822	missense	possibly damaging	0.94
R7949:Gtf3c1	UTSW	7	125651081	missense	probably benign
R8123:Gtf3c1	UTSW	7	125704024	start gained	probably benign
R8295:Gtf3c1	UTSW	7	125663062	missense	probably benign	0.01
R8421:Gtf3c1	UTSW	7	125698970	missense	probably damaging	1.00
R8438:Gtf3c1	UTSW	7	125642529	nonsense	probably null
R8517:Gtf3c1	UTSW	7	125654551	missense	probably damaging	1.00
R8970:Gtf3c1	UTSW	7	125673055	unclassified	probably benign
R9005:Gtf3c1	UTSW	7	125703897	missense	probably benign	0.25
R9156:Gtf3c1	UTSW	7	125645777	missense	possibly damaging	0.78
R9400:Gtf3c1	UTSW	7	125676511	missense	probably damaging	0.96
X0065:Gtf3c1	UTSW	7	125641690	missense	probably damaging	1.00
Z1176:Gtf3c1	UTSW	7	125703964	missense	probably damaging	0.99
Z1177:Gtf3c1	UTSW	7	125667122	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TGCTGTCCATCTCTGAAACACACTC -3'
(R):5'- CCCAGTGCCTTAACTTAGCAGTACC -3'

Sequencing Primer
(F):5'- gcagtagagcccttgacc -3'
(R):5'- AGTACATGCTGAATGCTGGG -3'

Posted On

2014-03-28