Mutagenetix > Incidental Mutation

Incidental Mutation 'R4668:Gtf3c1'

352156

Institutional Source

Beutler Lab

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 #

R4668 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125640954-125707780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125667338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 979 (T979A)

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: T979A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: T979A

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: T979A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205827

Predicted Effect

unknown
Transcript: ENSMUST00000206694
AA Change: T103A

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	T	9: 114,304,711 (GRCm38)		noncoding transcript	Het
6430548M08Rik	T	C	8: 120,160,414 (GRCm38)		probably null	Het
Abca4	G	A	3: 122,155,299 (GRCm38)	G531E	possibly damaging	Het
Acad8	A	G	9: 26,990,627 (GRCm38)	L147P	probably damaging	Het
Acot10	T	C	15: 20,665,942 (GRCm38)	S238G	probably benign	Het
Adamtsl2	A	T	2: 27,095,475 (GRCm38)	H457L	probably benign	Het
Ankrd35	A	T	3: 96,679,208 (GRCm38)	T67S	probably damaging	Het
Aox2	T	G	1: 58,334,694 (GRCm38)	I838S	possibly damaging	Het
Arnt2	T	C	7: 84,275,386 (GRCm38)	N411S	probably damaging	Het
Bmpr2	T	C	1: 59,867,716 (GRCm38)	L656S	probably damaging	Het
Carns1	A	T	19: 4,165,476 (GRCm38)	Y902*	probably null	Het
Cavin1	T	C	11: 100,958,796 (GRCm38)	E336G	probably damaging	Het
Cbl	A	T	9: 44,153,848 (GRCm38)	C728S	probably benign	Het
Ccdc136	C	A	6: 29,411,281 (GRCm38)	Q218K	probably damaging	Het
Cdk19	C	A	10: 40,466,710 (GRCm38)	T196K	probably damaging	Het
Ceacam20	T	C	7: 19,986,027 (GRCm38)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528 (GRCm38)	I47V	probably benign	Het
Ces3a	A	C	8: 105,053,423 (GRCm38)	K299T	probably damaging	Het
Cfap61	A	T	2: 146,143,136 (GRCm38)	I967F	probably damaging	Het
Cnksr1	C	T	4: 134,232,971 (GRCm38)		probably benign	Het
Cped1	T	C	6: 22,237,653 (GRCm38)	Y923H	probably benign	Het
Crip3	T	C	17: 46,429,364 (GRCm38)	L30P	probably damaging	Het
Csmd1	A	G	8: 16,023,891 (GRCm38)	I2030T	possibly damaging	Het
Ctse	C	A	1: 131,662,749 (GRCm38)	P70T	probably damaging	Het
Cyp2b23	A	G	7: 26,672,734 (GRCm38)	F429L	probably damaging	Het
Cyp2c66	T	A	19: 39,176,656 (GRCm38)	D360E	probably damaging	Het
D8Ertd738e	A	T	8: 84,249,481 (GRCm38)	L46*	probably null	Het
Dcp2	T	A	18: 44,415,362 (GRCm38)		probably null	Het
Ddx10	C	A	9: 53,099,213 (GRCm38)	D834Y	possibly damaging	Het
Ddx19a	A	T	8: 110,979,084 (GRCm38)	V245E	probably damaging	Het
Dpf2	A	C	19: 5,904,487 (GRCm38)	D130E	probably benign	Het
Emc8	A	T	8: 120,667,779 (GRCm38)	M67K	probably damaging	Het
Ephb6	T	C	6: 41,614,602 (GRCm38)	L231P	possibly damaging	Het
Erp27	T	C	6: 136,908,152 (GRCm38)	E216G	possibly damaging	Het
Esco1	A	T	18: 10,594,734 (GRCm38)	I184N	possibly damaging	Het
Fam205c	A	G	4: 42,871,608 (GRCm38)	F256L	probably benign	Het
Fdxacb1	T	A	9: 50,770,260 (GRCm38)	D11E	possibly damaging	Het
Fhod3	C	T	18: 25,066,338 (GRCm38)	P689S	probably benign	Het
Fnip1	T	A	11: 54,503,559 (GRCm38)	S940R	probably damaging	Het
Ganc	G	T	2: 120,431,067 (GRCm38)	V343F	probably benign	Het
Gldn	T	A	9: 54,332,018 (GRCm38)	L228*	probably null	Het
Gm1123	C	T	9: 99,009,373 (GRCm38)	R341H	probably damaging	Het
Gtf2f2	T	C	14: 75,917,638 (GRCm38)	Y161C	probably benign	Het
Hist1h4a	A	G	13: 23,760,976 (GRCm38)	V61A	probably benign	Het
Hmcn2	G	T	2: 31,435,792 (GRCm38)	R4277L	probably benign	Het
Hsd17b6	T	A	10: 127,994,426 (GRCm38)		probably null	Het
Igkv12-46	T	C	6: 69,764,797 (GRCm38)	T25A	probably damaging	Het
Inpp5e	G	A	2: 26,400,994 (GRCm38)	R354C	probably damaging	Het
Jcad	T	A	18: 4,680,221 (GRCm38)		probably null	Het
Kcna10	G	T	3: 107,194,694 (GRCm38)	A214S	possibly damaging	Het
Kit	T	C	5: 75,641,220 (GRCm38)		probably null	Het
Kmt2a	G	A	9: 44,824,572 (GRCm38)		probably benign	Het
Lama1	T	C	17: 67,752,434 (GRCm38)	V604A	probably benign	Het
Mesd	T	C	7: 83,895,756 (GRCm38)	V138A	probably damaging	Het
Mmp13	T	C	9: 7,272,580 (GRCm38)	F9S	possibly damaging	Het
Mocos	T	C	18: 24,666,434 (GRCm38)	Y242H	probably benign	Het
Mrc1	A	C	2: 14,293,486 (GRCm38)	T718P	probably damaging	Het
Msh6	T	C	17: 87,984,806 (GRCm38)	S330P	possibly damaging	Het
Myh10	A	G	11: 68,804,642 (GRCm38)	K1532E	probably damaging	Het
Nat9	T	C	11: 115,184,542 (GRCm38)	N91S	probably damaging	Het
Neto2	A	T	8: 85,641,062 (GRCm38)	I351N	probably damaging	Het
Nfx1	A	G	4: 40,976,367 (GRCm38)	N14D	possibly damaging	Het
Nlrp4b	A	G	7: 10,714,733 (GRCm38)	T288A	possibly damaging	Het
Nutm2	C	A	13: 50,472,997 (GRCm38)	T396K	probably benign	Het
Ogdhl	A	G	14: 32,332,536 (GRCm38)	T196A	probably benign	Het
Olfr1453	A	T	19: 13,028,081 (GRCm38)	F83I	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,604 (GRCm38)	I223V	possibly damaging	Het
Olfr582	A	T	7: 103,041,851 (GRCm38)	D119V	probably benign	Het
Omg	T	A	11: 79,502,423 (GRCm38)	N203I	probably damaging	Het
Pdgfrb	A	G	18: 61,064,113 (GRCm38)	Y207C	probably damaging	Het
Pdzd7	T	A	19: 45,045,687 (GRCm38)		probably benign	Het
Pgs1	C	A	11: 118,003,507 (GRCm38)	H157N	probably damaging	Het
Pik3c2a	A	G	7: 116,358,688 (GRCm38)	V1121A	probably benign	Het
Pikfyve	T	A	1: 65,250,273 (GRCm38)	C1235S	probably damaging	Het
Pms1	G	A	1: 53,189,474 (GRCm38)	Q872*	probably null	Het
Ptgs2	A	G	1: 150,101,084 (GRCm38)	T23A	probably benign	Het
Rgl1	T	G	1: 152,521,371 (GRCm38)	R716S	probably damaging	Het
Rif1	A	G	2: 52,111,952 (GRCm38)	E1806G	probably benign	Het
Ripor1	T	C	8: 105,614,652 (GRCm38)	V39A	probably benign	Het
Ryr2	G	T	13: 11,593,117 (GRCm38)	T868N	probably benign	Het
Sec22b	A	T	3: 97,921,122 (GRCm38)	D167V	probably damaging	Het
Sec24d	T	C	3: 123,355,774 (GRCm38)	V810A	probably damaging	Het
Shh	T	C	5: 28,457,855 (GRCm38)	*438W	probably null	Het
Slc25a12	G	A	2: 71,315,062 (GRCm38)	S178L	probably benign	Het
Sorl1	A	T	9: 41,984,508 (GRCm38)	W1784R	probably damaging	Het
Sp3	A	T	2: 72,970,981 (GRCm38)	S229R	probably damaging	Het
Spdye4c	G	A	2: 128,592,353 (GRCm38)	V5I	possibly damaging	Het
Spint2	A	T	7: 29,260,379 (GRCm38)	V53D	probably damaging	Het
Stard3nl	T	A	13: 19,376,519 (GRCm38)	N29Y	probably damaging	Het
Stk25	A	G	1: 93,625,483 (GRCm38)	S299P	probably damaging	Het
Sult2a3	A	G	7: 14,122,861 (GRCm38)	S45P	probably damaging	Het
Thsd7a	A	T	6: 12,408,968 (GRCm38)	V685E	probably damaging	Het
Tm9sf4	T	A	2: 153,187,308 (GRCm38)	V92D	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Topors	G	A	4: 40,262,669 (GRCm38)	T205I	probably damaging	Het
Tpo	T	A	12: 30,103,290 (GRCm38)	Y355F	probably benign	Het
Uba1y	T	A	Y: 826,032 (GRCm38)	M396K	possibly damaging	Het
Vmn1r50	A	T	6: 90,107,531 (GRCm38)	Q86L	probably benign	Het
Vmn1r77	A	G	7: 12,041,431 (GRCm38)	K45E	probably damaging	Het
Vmn2r114	A	C	17: 23,310,473 (GRCm38)	N218K	possibly damaging	Het
Vmn2r66	T	A	7: 84,994,697 (GRCm38)	N835I	probably damaging	Het
Vps54	T	G	11: 21,299,989 (GRCm38)	N458K	probably benign	Het
Zcchc7	G	T	4: 44,895,964 (GRCm38)	C304F	probably damaging	Het
Zfp335	A	T	2: 164,900,286 (GRCm38)	C593S	probably damaging	Het
Zmynd15	C	G	11: 70,462,588 (GRCm38)	P214R	probably damaging	Het

Other mutations in Gtf3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Gtf3c1	APN	7	125,644,258 (GRCm38)	missense	probably benign	0.15
IGL00535:Gtf3c1	APN	7	125,644,153 (GRCm38)	missense	probably benign	0.00
IGL00778:Gtf3c1	APN	7	125,667,374 (GRCm38)	missense	probably damaging	1.00
IGL00832:Gtf3c1	APN	7	125,654,460 (GRCm38)	splice site	probably benign
IGL01383:Gtf3c1	APN	7	125,699,500 (GRCm38)	missense	probably damaging	1.00
IGL01472:Gtf3c1	APN	7	125,651,054 (GRCm38)	splice site	probably benign
IGL01743:Gtf3c1	APN	7	125,663,415 (GRCm38)	missense	probably damaging	1.00
IGL01867:Gtf3c1	APN	7	125,662,376 (GRCm38)	missense	probably benign	0.44
IGL02016:Gtf3c1	APN	7	125,668,039 (GRCm38)	missense	probably damaging	1.00
IGL02096:Gtf3c1	APN	7	125,659,112 (GRCm38)	missense	probably damaging	0.98
IGL02121:Gtf3c1	APN	7	125,646,731 (GRCm38)	nonsense	probably null
IGL02226:Gtf3c1	APN	7	125,667,990 (GRCm38)	splice site	probably null
IGL02376:Gtf3c1	APN	7	125,668,996 (GRCm38)	missense	probably benign	0.41
IGL02581:Gtf3c1	APN	7	125,646,515 (GRCm38)	missense	possibly damaging	0.80
IGL02750:Gtf3c1	APN	7	125,676,512 (GRCm38)	missense	probably damaging	1.00
IGL03063:Gtf3c1	APN	7	125,646,503 (GRCm38)	missense	possibly damaging	0.72
IGL03167:Gtf3c1	APN	7	125,670,580 (GRCm38)	critical splice acceptor site	probably null
R0052:Gtf3c1	UTSW	7	125,667,971 (GRCm38)	splice site	probably null
R0266:Gtf3c1	UTSW	7	125,644,134 (GRCm38)	missense	possibly damaging	0.83
R0378:Gtf3c1	UTSW	7	125,647,614 (GRCm38)	nonsense	probably null
R0387:Gtf3c1	UTSW	7	125,681,104 (GRCm38)	missense	probably damaging	1.00
R0426:Gtf3c1	UTSW	7	125,663,016 (GRCm38)	nonsense	probably null
R0458:Gtf3c1	UTSW	7	125,644,134 (GRCm38)	missense	possibly damaging	0.83
R0613:Gtf3c1	UTSW	7	125,644,134 (GRCm38)	missense	possibly damaging	0.83
R0634:Gtf3c1	UTSW	7	125,657,477 (GRCm38)	unclassified	probably benign
R0658:Gtf3c1	UTSW	7	125,698,962 (GRCm38)	missense	probably damaging	1.00
R0904:Gtf3c1	UTSW	7	125,668,842 (GRCm38)	splice site	probably benign
R1051:Gtf3c1	UTSW	7	125,707,649 (GRCm38)	missense	probably damaging	1.00
R1481:Gtf3c1	UTSW	7	125,693,138 (GRCm38)	critical splice donor site	probably null
R1590:Gtf3c1	UTSW	7	125,676,661 (GRCm38)	missense	possibly damaging	0.90
R1782:Gtf3c1	UTSW	7	125,667,074 (GRCm38)	missense	probably damaging	1.00
R1981:Gtf3c1	UTSW	7	125,644,272 (GRCm38)	missense	possibly damaging	0.96
R2513:Gtf3c1	UTSW	7	125,681,173 (GRCm38)	missense	probably benign	0.01
R2697:Gtf3c1	UTSW	7	125,643,954 (GRCm38)	missense	probably damaging	0.98
R3963:Gtf3c1	UTSW	7	125,693,225 (GRCm38)	splice site	probably null
R4125:Gtf3c1	UTSW	7	125,647,450 (GRCm38)	nonsense	probably null
R4127:Gtf3c1	UTSW	7	125,647,450 (GRCm38)	nonsense	probably null
R4646:Gtf3c1	UTSW	7	125,659,094 (GRCm38)	missense	possibly damaging	0.66
R4653:Gtf3c1	UTSW	7	125,674,100 (GRCm38)	missense	probably benign	0.23
R4803:Gtf3c1	UTSW	7	125,663,540 (GRCm38)	missense	probably damaging	1.00
R5138:Gtf3c1	UTSW	7	125,647,492 (GRCm38)	missense	probably benign	0.05
R5149:Gtf3c1	UTSW	7	125,668,037 (GRCm38)	missense	probably damaging	0.99
R5286:Gtf3c1	UTSW	7	125,663,408 (GRCm38)	missense	possibly damaging	0.79
R5437:Gtf3c1	UTSW	7	125,667,368 (GRCm38)	missense	probably damaging	1.00
R5493:Gtf3c1	UTSW	7	125,670,544 (GRCm38)	missense	probably damaging	1.00
R5610:Gtf3c1	UTSW	7	125,703,945 (GRCm38)	missense	possibly damaging	0.94
R5656:Gtf3c1	UTSW	7	125,662,654 (GRCm38)	missense	probably benign	0.27
R5754:Gtf3c1	UTSW	7	125,644,065 (GRCm38)	missense	possibly damaging	0.86
R5969:Gtf3c1	UTSW	7	125,645,676 (GRCm38)	missense	possibly damaging	0.91
R6009:Gtf3c1	UTSW	7	125,647,430 (GRCm38)	missense	possibly damaging	0.66
R6223:Gtf3c1	UTSW	7	125,676,625 (GRCm38)	missense	probably benign	0.01
R6580:Gtf3c1	UTSW	7	125,644,347 (GRCm38)	missense	probably benign	0.02
R6628:Gtf3c1	UTSW	7	125,668,074 (GRCm38)	missense	probably benign	0.04
R6774:Gtf3c1	UTSW	7	125,641,621 (GRCm38)	missense	possibly damaging	0.93
R6781:Gtf3c1	UTSW	7	125,659,197 (GRCm38)	nonsense	probably null
R6978:Gtf3c1	UTSW	7	125,645,534 (GRCm38)	missense	possibly damaging	0.86
R7078:Gtf3c1	UTSW	7	125,645,742 (GRCm38)	missense	possibly damaging	0.95
R7096:Gtf3c1	UTSW	7	125,696,559 (GRCm38)	critical splice acceptor site	probably null
R7146:Gtf3c1	UTSW	7	125,672,821 (GRCm38)	missense	possibly damaging	0.48
R7246:Gtf3c1	UTSW	7	125,669,094 (GRCm38)
R7330:Gtf3c1	UTSW	7	125,703,883 (GRCm38)	missense	probably benign	0.36
R7345:Gtf3c1	UTSW	7	125,645,670 (GRCm38)	missense	probably damaging	1.00
R7480:Gtf3c1	UTSW	7	125,642,541 (GRCm38)	missense	probably benign	0.22
R7490:Gtf3c1	UTSW	7	125,647,491 (GRCm38)	missense	probably damaging	0.98
R7555:Gtf3c1	UTSW	7	125,645,670 (GRCm38)	missense	probably damaging	1.00
R7895:Gtf3c1	UTSW	7	125,672,822 (GRCm38)	missense	possibly damaging	0.94
R7949:Gtf3c1	UTSW	7	125,651,081 (GRCm38)	missense	probably benign
R8123:Gtf3c1	UTSW	7	125,704,024 (GRCm38)	start gained	probably benign
R8295:Gtf3c1	UTSW	7	125,663,062 (GRCm38)	missense	probably benign	0.01
R8421:Gtf3c1	UTSW	7	125,698,970 (GRCm38)	missense	probably damaging	1.00
R8438:Gtf3c1	UTSW	7	125,642,529 (GRCm38)	nonsense	probably null
R8517:Gtf3c1	UTSW	7	125,654,551 (GRCm38)	missense	probably damaging	1.00
R8970:Gtf3c1	UTSW	7	125,673,055 (GRCm38)	unclassified	probably benign
R9005:Gtf3c1	UTSW	7	125,703,897 (GRCm38)	missense	probably benign	0.25
R9156:Gtf3c1	UTSW	7	125,645,777 (GRCm38)	missense	possibly damaging	0.78
R9292:Gtf3c1	UTSW	7	125,674,391 (GRCm38)	intron	probably benign
R9400:Gtf3c1	UTSW	7	125,676,511 (GRCm38)	missense	probably damaging	0.96
R9658:Gtf3c1	UTSW	7	125,707,562 (GRCm38)	missense	probably damaging	1.00
R9660:Gtf3c1	UTSW	7	125,663,027 (GRCm38)	missense	possibly damaging	0.52
X0065:Gtf3c1	UTSW	7	125,641,690 (GRCm38)	missense	probably damaging	1.00
Z1176:Gtf3c1	UTSW	7	125,703,964 (GRCm38)	missense	probably damaging	0.99
Z1177:Gtf3c1	UTSW	7	125,667,122 (GRCm38)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GCCAGGTTGTAATGTGGGTCAC -3'
(R):5'- TTTCCAAATCAAACCCCAGGTG -3'

Sequencing Primer
(F):5'- TGGTGTCCACAATGACTG -3'
(R):5'- AGGTGACTGATGCCCTAGG -3'

Posted On

2015-10-08