Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Gtf3c2'

207312

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

039858-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

R1831 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

31313350-31337488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31325713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 452 (Q452K)

Ref Sequence

ENSEMBL: ENSMUSP00000144489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000200871] [ENSMUST00000202639]

AlphaFold

Q8BL74

Predicted Effect

probably damaging
Transcript: ENSMUST00000043161
AA Change: Q452K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: Q452K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000088010
AA Change: Q409K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: Q409K

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: Q409K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: Q409K

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 benign
Transcript: ENSMUST00000200871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202254

Predicted Effect

probably damaging
Transcript: ENSMUST00000202639
AA Change: Q452K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: Q452K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202843

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably 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
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
R7474:Gtf3c2	UTSW	5	31,325,100 (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'- TTGACTTGCCAGCCCAATGC -3'
(R):5'- TCCAATCACAGATTCGCCAG -3'

Sequencing Primer
(F):5'- TTGCCAGCCCAATGCAAACC -3'
(R):5'- GCCAGACATACTTGTTCCTAGTGG -3'

Posted On

2014-06-23