Mutagenetix > Incidental Mutations

Incidental Mutation 'R4113:Gtf3c4'

314491

Institutional Source

Beutler Lab

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: 0.961) question?

Stock #

R4113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28822299-28840360 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28827555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 771 (T771I)

Ref Sequence

ENSEMBL: ENSMUSP00000042265 (fasta)

Gene Model

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

AlphaFold

Q8BMQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000037117
AA Change: T771I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: T771I

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

probably damaging
Transcript: ENSMUST00000171404
AA Change: T630I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: T630I

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

1x: 99.2%
3x: 98.6%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bace2	A	G	16: 97,436,656	T436A	probably benign	Het
BC024139	A	G	15: 76,121,627	M458T	probably benign	Het
Casp2	G	A	6: 42,267,894	A76T	probably damaging	Het
Catsper3	A	G	13: 55,786,370	K35E	probably damaging	Het
Ccdc88c	A	G	12: 100,945,073	L34P	probably damaging	Het
Dcaf13	T	A	15: 39,130,220	I236N	probably damaging	Het
Dip2c	G	T	13: 9,637,101	G1254C	probably damaging	Het
Dnah12	T	C	14: 26,693,567	L41P	probably damaging	Het
Dnah17	T	C	11: 118,112,594	K514R	possibly damaging	Het
Dnajb12	T	A	10: 59,894,314	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Eya4	G	T	10: 23,155,951	S235Y	probably damaging	Het
Fam208a	C	T	14: 27,459,961	R483*	probably null	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gdf3	A	G	6: 122,607,057	I117T	probably damaging	Het
Gm5611	T	A	9: 17,030,693		noncoding transcript	Het
Hrh3	C	A	2: 180,102,850	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,561,418	Y234F	probably damaging	Het
Irak1bp1	T	C	9: 82,846,675	S220P	probably benign	Het
Lama1	G	A	17: 67,764,703	V862I	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Olfr1271	A	T	2: 90,266,340	L30H	probably damaging	Het
Olfr304	G	A	7: 86,386,525	T45M	possibly damaging	Het
Pcdh8	T	C	14: 79,767,513	D927G	probably damaging	Het
Prelid3a	T	C	18: 67,472,897	Y25H	probably damaging	Het
Ptprm	T	C	17: 66,725,813	D1015G	probably damaging	Het
Rhox3f	G	T	X: 37,582,019	E140*	probably null	Het
Riox2	C	T	16: 59,491,894	L465F	probably benign	Het
Sec31b	G	T	19: 44,524,529	T507N	possibly damaging	Het
Stab1	C	T	14: 31,168,479	R5Q	probably damaging	Het
Stmn3	T	C	2: 181,307,296	K135E	possibly damaging	Het
Synj2	G	A	17: 6,007,965	G243S	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tshz2	C	A	2: 169,885,530	P213Q	probably benign	Het
Tssk4	A	G	14: 55,650,373	T9A	probably benign	Het
Ube4a	T	A	9: 44,948,949	I272F	probably damaging	Het
Unc79	T	C	12: 103,059,370	C339R	probably damaging	Het
Vmn2r87	T	C	10: 130,479,822	D125G	probably benign	Het
Yap1	A	T	9: 7,938,431	*358K	probably null	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	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
IGL01778:Gtf3c4	APN	2	28835088	missense	probably damaging	1.00
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
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
R9164:Gtf3c4	UTSW	2	28834649	missense	probably benign	0.31
R9170:Gtf3c4	UTSW	2	28840202	missense	possibly damaging	0.86
R9232:Gtf3c4	UTSW	2	28834836	missense	probably damaging	1.00
R9308:Gtf3c4	UTSW	2	28834970	missense	probably damaging	1.00
R9415:Gtf3c4	UTSW	2	28833954	missense	possibly damaging	0.95
Z1177:Gtf3c4	UTSW	2	28835073	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AACTGGTTCTGGCTTCACCC -3'
(R):5'- CCTAAGGGCTCTTAAAGATGTTTTG -3'

Sequencing Primer
(F):5'- TGGCTTCACCCTAACTGCAGAG -3'
(R):5'- GGGCTCTTAAAGATGTTTTGTATACC -3'

Posted On

2015-05-14