Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Gtf3c4'

153760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf3c4

Ensembl Gene

ENSMUSG00000035666

Gene Name

general transcription factor IIIC, polypeptide 4

Synonyms

KAT12

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

28822299-28840360 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28835088 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 211 (R211C)

Ref Sequence

ENSEMBL: ENSMUSP00000042265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037117] [ENSMUST00000171404]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037117
AA Change: R211C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: R211C

Domain	Start	End	E-Value	Type
low complexity region	18	42	N/A	INTRINSIC
Pfam:TFIIIC_delta	59	250	1.1e-45	PFAM
low complexity region	609	621	N/A	INTRINSIC
Pfam:zf-TFIIIC	728	816	2.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156468

Predicted Effect

probably damaging
Transcript: ENSMUST00000171404
AA Change: R70C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: R70C

Domain	Start	End	E-Value	Type
Pfam:TFIIIC_delta	7	109	3.1e-17	PFAM
low complexity region	468	480	N/A	INTRINSIC
Pfam:zf-TFIIIC	587	676	4.4e-26	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Gtf3c4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Gtf3c4	APN	2	28833572	missense	probably benign
IGL01419:Gtf3c4	APN	2	28835069	missense	probably damaging	1.00
IGL01574:Gtf3c4	APN	2	28834436	missense	possibly damaging	0.50
IGL01802:Gtf3c4	APN	2	28834080	missense	probably damaging	1.00
IGL02560:Gtf3c4	APN	2	28834267	nonsense	probably null
R0190:Gtf3c4	UTSW	2	28840128	missense	probably benign	0.19
R0245:Gtf3c4	UTSW	2	28834964	missense	possibly damaging	0.71
R0440:Gtf3c4	UTSW	2	28840169	splice site	probably null
R0882:Gtf3c4	UTSW	2	28834770	missense	probably damaging	1.00
R1757:Gtf3c4	UTSW	2	28830636	splice site	probably benign
R1809:Gtf3c4	UTSW	2	28833976	nonsense	probably null
R1893:Gtf3c4	UTSW	2	28834362	missense	possibly damaging	0.92
R1903:Gtf3c4	UTSW	2	28839956	missense	probably benign	0.19
R2020:Gtf3c4	UTSW	2	28833894	missense	possibly damaging	0.81
R2867:Gtf3c4	UTSW	2	28839904	utr 5 prime	probably benign
R3076:Gtf3c4	UTSW	2	28835153	missense	possibly damaging	0.56
R4113:Gtf3c4	UTSW	2	28827555	missense	probably damaging	1.00
R4404:Gtf3c4	UTSW	2	28826749	missense	probably damaging	1.00
R5751:Gtf3c4	UTSW	2	28827499	missense	probably damaging	1.00
R5997:Gtf3c4	UTSW	2	28833711	missense	possibly damaging	0.62
R8162:Gtf3c4	UTSW	2	28834581	nonsense	probably null
Z1177:Gtf3c4	UTSW	2	28835073	missense	probably damaging	0.96

Posted On

2014-02-04