Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Gtf3c2'

579330

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c2

Ensembl Gene

ENSMUSG00000106864

Gene Name

general transcription factor IIIC, polypeptide 2, beta

Synonyms

2610510G03Rik, 1300004C11Rik, TFIIIC110, TFIIIC-BETA

MMRRC Submission

045548-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31313350-31337488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31325100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 502 (G502W)

Ref Sequence

ENSEMBL: ENSMUSP00000085325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000202639]

AlphaFold

Q8BL74

Predicted Effect

probably damaging
Transcript: ENSMUST00000088010
AA Change: G502W

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

SMART Domains

Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: G502W

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC
low complexity region	144	159	N/A	INTRINSIC
low complexity region	185	200	N/A	INTRINSIC
low complexity region	207	225	N/A	INTRINSIC
low complexity region	249	268	N/A	INTRINSIC
low complexity region	433	445	N/A	INTRINSIC
WD40	452	508	6.39e0	SMART
WD40	530	580	1.6e0	SMART
WD40	598	638	3.37e-6	SMART
WD40	821	861	5.33e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000101411
AA Change: G502W

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

SMART Domains

Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: G502W

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC
low complexity region	144	159	N/A	INTRINSIC
low complexity region	185	200	N/A	INTRINSIC
low complexity region	207	225	N/A	INTRINSIC
low complexity region	249	268	N/A	INTRINSIC
low complexity region	433	445	N/A	INTRINSIC
WD40	452	508	6.39e0	SMART
WD40	530	580	1.6e0	SMART
WD40	598	638	3.37e-6	SMART
Blast:WD40	807	844	2e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000202639
AA Change: G545W

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

SMART Domains

Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: G545W

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC
low complexity region	144	159	N/A	INTRINSIC
low complexity region	232	243	N/A	INTRINSIC
low complexity region	250	268	N/A	INTRINSIC
low complexity region	292	311	N/A	INTRINSIC
low complexity region	476	488	N/A	INTRINSIC
WD40	495	551	6.39e0	SMART
WD40	573	623	1.6e0	SMART
WD40	641	681	3.37e-6	SMART
WD40	864	904	5.33e0	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	possibly damaging	Het

Other mutations in Gtf3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Gtf3c2	APN	5	31,331,752 (GRCm39)	missense	probably damaging	1.00
IGL00832:Gtf3c2	APN	5	31,330,349 (GRCm39)	unclassified	probably benign
IGL00904:Gtf3c2	APN	5	31,330,202 (GRCm39)	missense	probably damaging	1.00
IGL00966:Gtf3c2	APN	5	31,327,517 (GRCm39)	critical splice donor site	probably benign	0.00
IGL01061:Gtf3c2	APN	5	31,325,698 (GRCm39)	missense	possibly damaging	0.94
IGL01148:Gtf3c2	APN	5	31,317,168 (GRCm39)	missense	probably damaging	1.00
IGL01767:Gtf3c2	APN	5	31,314,979 (GRCm39)	missense	probably benign	0.08
IGL02237:Gtf3c2	APN	5	31,316,397 (GRCm39)	splice site	probably benign
IGL02458:Gtf3c2	APN	5	31,316,867 (GRCm39)	critical splice acceptor site	probably null
IGL02888:Gtf3c2	APN	5	31,331,169 (GRCm39)	missense	probably damaging	1.00
IGL03035:Gtf3c2	APN	5	31,323,358 (GRCm39)	missense	possibly damaging	0.96
IGL03131:Gtf3c2	APN	5	31,314,964 (GRCm39)	missense	probably damaging	0.98
R0534:Gtf3c2	UTSW	5	31,315,476 (GRCm39)	splice site	probably benign
R0581:Gtf3c2	UTSW	5	31,316,862 (GRCm39)	nonsense	probably null
R0634:Gtf3c2	UTSW	5	31,317,150 (GRCm39)	nonsense	probably null
R1172:Gtf3c2	UTSW	5	31,325,419 (GRCm39)	missense	probably damaging	1.00
R1511:Gtf3c2	UTSW	5	31,316,446 (GRCm39)	missense	probably benign	0.15
R1680:Gtf3c2	UTSW	5	31,331,212 (GRCm39)	missense	probably damaging	1.00
R1726:Gtf3c2	UTSW	5	31,326,467 (GRCm39)	missense	possibly damaging	0.82
R1831:Gtf3c2	UTSW	5	31,325,713 (GRCm39)	missense	probably damaging	1.00
R2006:Gtf3c2	UTSW	5	31,325,440 (GRCm39)	missense	probably damaging	0.99
R2437:Gtf3c2	UTSW	5	31,317,042 (GRCm39)	critical splice donor site	probably null
R4732:Gtf3c2	UTSW	5	31,317,401 (GRCm39)	missense	probably damaging	0.97
R4733:Gtf3c2	UTSW	5	31,317,401 (GRCm39)	missense	probably damaging	0.97
R4787:Gtf3c2	UTSW	5	31,314,921 (GRCm39)	missense	probably benign	0.03
R4817:Gtf3c2	UTSW	5	31,331,434 (GRCm39)	critical splice acceptor site	probably null
R4863:Gtf3c2	UTSW	5	31,316,577 (GRCm39)	intron	probably benign
R4926:Gtf3c2	UTSW	5	31,326,467 (GRCm39)	missense	possibly damaging	0.82
R5508:Gtf3c2	UTSW	5	31,331,805 (GRCm39)	nonsense	probably null
R5704:Gtf3c2	UTSW	5	31,316,454 (GRCm39)	missense	probably damaging	1.00
R5737:Gtf3c2	UTSW	5	31,325,593 (GRCm39)	critical splice donor site	probably null
R5868:Gtf3c2	UTSW	5	31,325,425 (GRCm39)	missense	possibly damaging	0.94
R6174:Gtf3c2	UTSW	5	31,315,555 (GRCm39)	missense	probably damaging	1.00
R6705:Gtf3c2	UTSW	5	31,323,352 (GRCm39)	missense	possibly damaging	0.93
R6782:Gtf3c2	UTSW	5	31,327,180 (GRCm39)	missense	probably benign	0.01
R6893:Gtf3c2	UTSW	5	31,323,722 (GRCm39)	missense	probably benign	0.06
R7363:Gtf3c2	UTSW	5	31,327,600 (GRCm39)	missense	probably damaging	1.00
R7578:Gtf3c2	UTSW	5	31,330,341 (GRCm39)	missense	probably benign
R7685:Gtf3c2	UTSW	5	31,325,611 (GRCm39)	missense	probably damaging	1.00
R7711:Gtf3c2	UTSW	5	31,327,533 (GRCm39)	missense	probably damaging	1.00
R7754:Gtf3c2	UTSW	5	31,330,175 (GRCm39)	missense	probably benign	0.38
R7825:Gtf3c2	UTSW	5	31,315,715 (GRCm39)	missense	probably damaging	0.99
R7994:Gtf3c2	UTSW	5	31,327,217 (GRCm39)	missense	possibly damaging	0.60
R8430:Gtf3c2	UTSW	5	31,330,403 (GRCm39)	missense	probably damaging	1.00
R8772:Gtf3c2	UTSW	5	31,331,758 (GRCm39)	missense	probably benign	0.26
R8950:Gtf3c2	UTSW	5	31,331,151 (GRCm39)	missense	probably damaging	1.00
R9221:Gtf3c2	UTSW	5	31,326,401 (GRCm39)	missense	probably damaging	1.00
R9451:Gtf3c2	UTSW	5	31,325,773 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAAAGGTGTGACTGAACATGC -3'
(R):5'- ACTTCTAATTGACGGGACTAGCC -3'

Sequencing Primer
(F):5'- GTGACTGAACATGCTTTTATGCTAG -3'
(R):5'- ACTAGCCCTGGGGGTTG -3'

Posted On

2019-10-07