Mutagenetix > Incidental Mutation

Incidental Mutation 'R5737:Gtf3c2'

ID

444572

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

043195-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.636) question?

question?

Stock #

R5737 (G1)

Quality Score

225

Status

Not validated

Chromosome

5

Chromosomal Location

31313350-31337488 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 31325593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144489 (fasta)

Gene Model

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

Predicted Effect

probably null
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 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: 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: 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: 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: 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: 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

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

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

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

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

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: ENSMUST00000133520
AA Change: V465A

Predicted Effect

probably benign
Transcript: ENSMUST00000200871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202843

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

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

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

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

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202254

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,707,055 (GRCm39)	V78A	probably damaging	Het
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Aldh1l2	T	A	10: 83,356,189 (GRCm39)	D67V	probably damaging	Het
Ankfy1	T	A	11: 72,623,100 (GRCm39)	D253E	probably damaging	Het
Arhgap42	T	C	9: 9,059,069 (GRCm39)	K159R	probably damaging	Het
Atrnl1	C	T	19: 57,766,320 (GRCm39)	A1219V	possibly damaging	Het
Cacna1c	C	T	6: 118,718,893 (GRCm39)	V386I	probably damaging	Het
Cacna2d2	A	G	9: 107,403,946 (GRCm39)	T1015A	possibly damaging	Het
Cadps2	T	C	6: 23,328,804 (GRCm39)	M999V	probably benign	Het
Ccer1	A	T	10: 97,530,546 (GRCm39)	H403L	possibly damaging	Het
Cubn	A	T	2: 13,393,702 (GRCm39)	I1433N	probably damaging	Het
Dcbld2	T	C	16: 58,281,348 (GRCm39)	V531A	probably damaging	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Dnah3	T	C	7: 119,658,421 (GRCm39)	K920R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dscaml1	C	T	9: 45,656,483 (GRCm39)	R1608C	probably damaging	Het
Heca	A	T	10: 17,791,462 (GRCm39)	M198K	possibly damaging	Het
Igkv8-24	A	T	6: 70,194,122 (GRCm39)	S29T	probably benign	Het
Lipo2	A	C	19: 33,699,096 (GRCm39)	N311K	probably damaging	Het
Lmo7	T	G	14: 102,124,672 (GRCm39)	I266S	probably damaging	Het
Naip2	T	A	13: 100,298,362 (GRCm39)	E558V	probably benign	Het
Nelfa	T	A	5: 34,056,457 (GRCm39)		probably null	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Psmg2	T	C	18: 67,779,107 (GRCm39)	S92P	possibly damaging	Het
Rasa2	C	T	9: 96,452,718 (GRCm39)		probably null	Het
Slc6a3	A	C	13: 73,692,923 (GRCm39)	N181T	probably damaging	Het
Tdrd5	A	G	1: 156,128,294 (GRCm39)	M136T	probably benign	Het
Tmem178b	A	C	6: 40,222,575 (GRCm39)	M97L	possibly damaging	Het
Tnfaip8l1	A	G	17: 56,478,950 (GRCm39)	D80G	probably benign	Het
Tomt	T	C	7: 101,549,524 (GRCm39)	T255A	probably benign	Het
Uqcc5	A	G	14: 30,850,676 (GRCm39)	I22T	probably benign	Het
Vmn2r26	G	T	6: 124,016,408 (GRCm39)	V291F	probably benign	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
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'- TAGACAAAGTGGGCCCTATTGC -3'
(R):5'- TAGCTCGATCACAGCACATC -3'

Sequencing Primer
(F):5'- GCCCTATTGCCAGGACTG -3'
(R):5'- TGTCCTTCTTCACAGGGGGAC -3'

Posted On

2016-11-21