Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Gtf3c2'

294538

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf3c2

Ensembl Gene

ENSMUSG00000106864

Gene Name

general transcription factor IIIC, polypeptide 2, beta

Synonyms

TFIIIC110, 2610510G03Rik, TFIIIC-BETA, 1300004C11Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

31156005-31180144 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 31159523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144489 (fasta)

Gene Model

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

AlphaFold

Q8BL74

Predicted Effect

probably null
Transcript: ENSMUST00000088010

SMART Domains

Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864

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 null
Transcript: ENSMUST00000101411

SMART Domains

Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678

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

noncoding transcript
Transcript: ENSMUST00000136581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202254

Predicted Effect

probably null
Transcript: ENSMUST00000202639

SMART Domains

Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Gtf3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Gtf3c2	APN	5	31174408	missense	probably damaging	1.00
IGL00832:Gtf3c2	APN	5	31173005	unclassified	probably benign
IGL00904:Gtf3c2	APN	5	31172858	missense	probably damaging	1.00
IGL00966:Gtf3c2	APN	5	31170173	critical splice donor site	probably benign	0.00
IGL01061:Gtf3c2	APN	5	31168354	missense	possibly damaging	0.94
IGL01148:Gtf3c2	APN	5	31159824	missense	probably damaging	1.00
IGL01767:Gtf3c2	APN	5	31157635	missense	probably benign	0.08
IGL02237:Gtf3c2	APN	5	31159053	splice site	probably benign
IGL02888:Gtf3c2	APN	5	31173825	missense	probably damaging	1.00
IGL03035:Gtf3c2	APN	5	31166014	missense	possibly damaging	0.96
IGL03131:Gtf3c2	APN	5	31157620	missense	probably damaging	0.98
R0534:Gtf3c2	UTSW	5	31158132	splice site	probably benign
R0581:Gtf3c2	UTSW	5	31159518	nonsense	probably null
R0634:Gtf3c2	UTSW	5	31159806	nonsense	probably null
R1172:Gtf3c2	UTSW	5	31168075	missense	probably damaging	1.00
R1511:Gtf3c2	UTSW	5	31159102	missense	probably benign	0.15
R1680:Gtf3c2	UTSW	5	31173868	missense	probably damaging	1.00
R1726:Gtf3c2	UTSW	5	31169123	missense	possibly damaging	0.82
R1831:Gtf3c2	UTSW	5	31168369	missense	probably damaging	1.00
R2006:Gtf3c2	UTSW	5	31168096	missense	probably damaging	0.99
R2437:Gtf3c2	UTSW	5	31159698	critical splice donor site	probably null
R4732:Gtf3c2	UTSW	5	31160057	missense	probably damaging	0.97
R4733:Gtf3c2	UTSW	5	31160057	missense	probably damaging	0.97
R4787:Gtf3c2	UTSW	5	31157577	missense	probably benign	0.03
R4817:Gtf3c2	UTSW	5	31174090	critical splice acceptor site	probably null
R4863:Gtf3c2	UTSW	5	31159233	intron	probably benign
R4926:Gtf3c2	UTSW	5	31169123	missense	possibly damaging	0.82
R5508:Gtf3c2	UTSW	5	31174461	nonsense	probably null
R5704:Gtf3c2	UTSW	5	31159110	missense	probably damaging	1.00
R5737:Gtf3c2	UTSW	5	31168249	critical splice donor site	probably null
R5868:Gtf3c2	UTSW	5	31168081	missense	possibly damaging	0.94
R6174:Gtf3c2	UTSW	5	31158211	missense	probably damaging	1.00
R6705:Gtf3c2	UTSW	5	31166008	missense	possibly damaging	0.93
R6782:Gtf3c2	UTSW	5	31169836	missense	probably benign	0.01
R6893:Gtf3c2	UTSW	5	31166378	missense	probably benign	0.06
R7363:Gtf3c2	UTSW	5	31170256	missense	probably damaging	1.00
R7474:Gtf3c2	UTSW	5	31167756	missense	probably damaging	1.00
R7578:Gtf3c2	UTSW	5	31172997	missense	probably benign
R7685:Gtf3c2	UTSW	5	31168267	missense	probably damaging	1.00
R7711:Gtf3c2	UTSW	5	31170189	missense	probably damaging	1.00
R7754:Gtf3c2	UTSW	5	31172831	missense	probably benign	0.38
R7825:Gtf3c2	UTSW	5	31158371	missense	probably damaging	0.99
R7994:Gtf3c2	UTSW	5	31169873	missense	possibly damaging	0.60
R8430:Gtf3c2	UTSW	5	31173059	missense	probably damaging	1.00
R8772:Gtf3c2	UTSW	5	31174414	missense	probably benign	0.26
R8950:Gtf3c2	UTSW	5	31173807	missense	probably damaging	1.00
R9221:Gtf3c2	UTSW	5	31169057	missense	probably damaging	1.00
R9451:Gtf3c2	UTSW	5	31168429	missense	probably damaging	1.00

Posted On

2015-04-16