Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Gtf3c2'

49359

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c2

Ensembl Gene

ENSMUSG00000106864

Gene Name

general transcription factor IIIC, polypeptide 2, beta

Synonyms

TFIIIC110, 2610510G03Rik, TFIIIC-BETA, 1300004C11Rik

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R0534 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

31156005-31180144 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 31158132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000201353] [ENSMUST00000201491] [ENSMUST00000202241] [ENSMUST00000202639]

AlphaFold

Q8BL74

Predicted Effect

probably benign
Transcript: ENSMUST00000043161

SMART Domains

Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144

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 benign
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 benign
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

probably benign
Transcript: ENSMUST00000154241

SMART Domains

Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	108	175	2.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200744

SMART Domains

Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	103	163	5.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200833

SMART Domains

Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200864

SMART Domains

Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201087

Predicted Effect

probably benign
Transcript: ENSMUST00000201353

SMART Domains

Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201423

Predicted Effect

probably benign
Transcript: ENSMUST00000201491

SMART Domains

Protein: ENSMUSP00000144593
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	155	4.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202203

Predicted Effect

probably benign
Transcript: ENSMUST00000202241

SMART Domains

Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	176	4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202254

Predicted Effect

probably benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202375

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Cap1	C	T	4: 122,862,719	V340M	probably benign	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Ep300	A	G	15: 81,600,896		probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fign	T	A	2: 63,980,791	H45L	probably damaging	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
Osbpl10	C	T	9: 115,167,178	L139F	probably damaging	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Tmem104	C	A	11: 115,200,828	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	possibly 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
IGL02458:Gtf3c2	APN	5	31159523	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATACCAGCCATCCATAGGAGTCCAG -3'
(R):5'- GATTTGATACCATACCAGGACAGCCC -3'

Sequencing Primer
(F):5'- cacacctttcatctcagcaatc -3'
(R):5'- CACTACTTGCTCTTTCAAGATACAG -3'

Posted On

2013-06-12