Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01802:Gtf3c4'

155552

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 #

IGL01802

Quality Score

Status

Chromosome

Chromosomal Location

28822299-28840360 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28834080 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 547 (K547E)

Ref Sequence

ENSEMBL: ENSMUSP00000042265 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037117
AA Change: K547E

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

SMART Domains

Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: K547E

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: K406E

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

SMART Domains

Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: K406E

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,292,438	M1434L	probably benign	Het
Acta2	T	A	19: 34,243,436	I291F	possibly damaging	Het
Arhgap10	A	G	8: 77,420,085	I230T	probably damaging	Het
Copb1	A	C	7: 114,226,776	S658A	probably benign	Het
Crtc3	A	T	7: 80,604,368	C244*	probably null	Het
Cyp4a14	G	A	4: 115,494,937	R93*	probably null	Het
Dclk2	A	G	3: 86,799,027	F586L	probably damaging	Het
Dmtn	G	T	14: 70,604,819	F358L	probably damaging	Het
Enam	A	T	5: 88,503,674	H1014L	possibly damaging	Het
Ercc6	A	G	14: 32,562,574	T765A	probably damaging	Het
Hdc	G	T	2: 126,603,894	A230D	probably benign	Het
Hipk3	A	T	2: 104,471,853		probably benign	Het
Kidins220	A	G	12: 24,995,000	I264M	probably damaging	Het
Lrp1b	C	T	2: 41,511,482	V387I	probably benign	Het
Mmp8	T	G	9: 7,567,440	F434V	probably benign	Het
Nr3c2	C	A	8: 76,908,595	Y108*	probably null	Het
Olfr1475	T	C	19: 13,479,365	M278V	probably benign	Het
Olfr729	T	G	14: 50,148,716	S53R	probably benign	Het
Pnpt1	A	T	11: 29,154,306	D560V	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,695	S299G	probably benign	Het
Rnf165	A	T	18: 77,462,914	L106Q	probably damaging	Het
Slc9a4	A	T	1: 40,607,798	N484I	probably damaging	Het
Sncaip	C	T	18: 52,869,037	S210F	probably damaging	Het
Tiam1	G	T	16: 89,898,372	Q66K	possibly damaging	Het
Ttc39a	C	A	4: 109,433,084	Y330*	probably null	Het
Ush2a	T	G	1: 188,436,957	D1098E	probably damaging	Het
Vmn2r103	A	G	17: 19,799,208	E518G	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
IGL01778:Gtf3c4	APN	2	28835088	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