Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Gtf3c4'

695889

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c4

Ensembl Gene

ENSMUSG00000035666

Gene Name

general transcription factor IIIC, polypeptide 4

Synonyms

KAT12

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R9164 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28822299-28840360 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28834649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 357 (V357A)

Ref Sequence

ENSEMBL: ENSMUSP00000042265 (fasta)

Gene Model

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

AlphaFold

Q8BMQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000037117
AA Change: V357A

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: V357A

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 benign
Transcript: ENSMUST00000171404
AA Change: V216A

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: V216A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,328,157	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,711,484	T847I	possibly damaging	Het
Acox1	A	T	11: 116,198,347	H48Q	probably benign	Het
Adam9	A	G	8: 24,996,779	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,457,055	Y388H	probably damaging	Het
Arap1	A	T	7: 101,391,883	K593*	probably null	Het
Bicc1	G	A	10: 70,945,264	T661M	probably damaging	Het
Cela1	A	G	15: 100,682,885		probably null	Het
Celf1	T	A	2: 91,001,081	L85H	probably damaging	Het
Cep120	A	T	18: 53,719,246	M520K	probably benign	Het
Chd1l	C	T	3: 97,594,040	R230H	probably benign	Het
Cyp2c55	A	T	19: 39,007,127	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,654,782	H167L	unknown	Het
Ddx58	T	A	4: 40,208,827	M762L	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dock4	T	A	12: 40,704,338	I442N	probably damaging	Het
Dpp6	T	C	5: 27,451,288		probably null	Het
Dysf	T	C	6: 84,203,326	C1960R	probably damaging	Het
Gm13941	T	C	2: 111,105,979	S2G	unknown	Het
Gm37240	T	C	3: 84,509,941	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,640,457	I350V	unknown	Het
Hemgn	T	C	4: 46,396,106	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,753,373	D28G	probably benign	Het
Intu	A	T	3: 40,690,703	D508V	probably damaging	Het
Kif28	A	T	1: 179,705,768	M604K	probably damaging	Het
Klra6	T	A	6: 130,016,724	I195F	possibly damaging	Het
Lhfp	G	A	3: 53,043,466	V54I	probably benign	Het
Lrpap1	T	C	5: 35,105,579	Y38C	probably damaging	Het
Maats1	A	G	16: 38,335,598	Y88H	possibly damaging	Het
Map1b	T	A	13: 99,425,843	Q2453L	unknown	Het
Map1b	C	A	13: 99,432,308	E1302*	probably null	Het
Map7	C	T	10: 20,246,664	R159C	probably benign	Het
Mov10l1	C	T	15: 89,012,158	T735I	probably benign	Het
Nfasc	C	A	1: 132,634,806	R77L	probably damaging	Het
Nipsnap1	T	C	11: 4,889,969	V230A	probably benign	Het
Olfr1206	C	T	2: 88,865,451	P282L	possibly damaging	Het
Olfr857	T	A	9: 19,713,658	M277K	probably benign	Het
Olfr860	T	A	9: 19,846,208	N137I	possibly damaging	Het
Orm3	T	C	4: 63,356,572	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,498,799	V549E	probably damaging	Het
Pclo	T	A	5: 14,681,685	S274R		Het
Phactr1	A	G	13: 42,682,702	D2G	possibly damaging	Het
Phtf2	G	A	5: 20,803,192	R164*	probably null	Het
Prkcq	A	G	2: 11,226,905	D13G	probably damaging	Het
Proser1	A	T	3: 53,472,073	N156I	probably benign	Het
Prss51	T	C	14: 64,097,509	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,752,991	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,166,773	D681G	possibly damaging	Het
Slc7a12	A	T	3: 14,499,300	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,077,968	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,222,075	A11E	probably benign	Het
Spag1	A	T	15: 36,216,253	Y526F	probably damaging	Het
Stim1	A	G	7: 102,435,419	H526R	probably benign	Het
Stx1b	T	C	7: 127,814,987	K69R	probably benign	Het
Tal1	T	C	4: 115,063,449	S107P	probably benign	Het
Tas2r130	T	C	6: 131,630,012	I273M	probably damaging	Het
Ttc24	A	T	3: 88,072,988	Y135*	probably null	Het
Ttn	G	A	2: 76,753,512	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,216,221	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,385,800	*850C	probably null	Het
Vwf	T	A	6: 125,565,843	I94N		Het
Zan	A	T	5: 137,424,071	S2762T	unknown	Het
Zbtb20	A	G	16: 43,610,401	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,423,469	Y1649H	probably benign	Het
Zfp397	A	T	18: 23,956,771	Q111L	probably damaging	Het
Zfp616	T	A	11: 74,084,999	I698N	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
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
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'- ACGTGGGAATTGTGAACATTCAG -3'
(R):5'- TATAGCTGTGTGGCAGTTCC -3'

Sequencing Primer
(F):5'- ATTCAGACCTGCCTTGGAGATCAG -3'
(R):5'- GGAAGGAGTCCATCTCTTCATGC -3'

Posted On

2022-02-07