Mutagenetix > Incidental Mutations

Incidental Mutation 'R1511:Gtf3c2'

168296

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

039558-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.726) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31156005-31180144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31159102 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 735 (S735T)

Ref Sequence

ENSEMBL: ENSMUSP00000098957 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043161
AA Change: S778T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: S778T

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
AA Change: S735T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: S735T

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
AA Change: S735T

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: S735T

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: ENSMUST00000202639
AA Change: S778T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: S778T

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: ENSMUST00000202254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202375

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

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977	N576K	probably benign	Het
Abca5	G	T	11: 110,299,978	L769M	probably damaging	Het
Abca5	T	A	11: 110,299,986	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,287,884	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788		probably benign	Het
Cr2	T	G	1: 195,155,272	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250		probably benign	Het
Cxcr1	T	C	1: 74,192,770	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469		noncoding transcript	Het
Galm	C	A	17: 80,183,267	N284K	probably damaging	Het
Hsph1	A	T	5: 149,630,383	S207T	probably benign	Het
Il33	C	T	19: 29,955,215	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324		probably null	Het
Kirrel2	A	G	7: 30,456,498	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822		probably null	Het
Nckap1	T	C	2: 80,553,415	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801		probably benign	Het
Polr3b	C	A	10: 84,680,385	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734		probably null	Het
Sidt2	A	G	9: 45,950,089	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Txk	A	C	5: 72,707,671	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301		probably null	Het
Ubtfl1	T	G	9: 18,410,193	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793	V430E	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGACCTGACTCTCCAAAGCTGC -3'
(R):5'- TTACTGCTCCGCGAAAAGGCAC -3'

Sequencing Primer
(F):5'- CAAGCCCCATATACATGAATTAAGTG -3'
(R):5'- TGGTAACTGCATCATTAGGGAC -3'

Posted On

2014-04-13