Mutagenetix > Incidental Mutations

Incidental Mutation 'R1680:Gtf3c2'

188402

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

039716-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31156005-31180144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31173868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 155 (S155P)

Ref Sequence

ENSEMBL: ENSMUSP00000098957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000200871] [ENSMUST00000201428] [ENSMUST00000201468] [ENSMUST00000202300] [ENSMUST00000202639]

AlphaFold

Q8BL74

Predicted Effect

probably damaging
Transcript: ENSMUST00000043161
AA Change: S155P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: S155P

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: S155P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: S155P

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: S155P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: S155P

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

possibly damaging
Transcript: ENSMUST00000201428
AA Change: S155P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144212
Gene: ENSMUSG00000106864
AA Change: S155P

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC
low complexity region	144	159	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201468
AA Change: S155P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144675
Gene: ENSMUSG00000106864
AA Change: S155P

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC
low complexity region	144	159	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202254

Predicted Effect

probably benign
Transcript: ENSMUST00000202300

SMART Domains

Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202639
AA Change: S155P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: S155P

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGATACCTCACCAATCTTCCCAT -3'
(R):5'- TGACCTCTGATCCCATCTCACAGAC -3'

Sequencing Primer
(F):5'- AATCTTCCCATCTCTCCAACATCTG -3'
(R):5'- TGTCAAAGGTCTCAAACACTAGG -3'

Posted On

2014-05-09