Mutagenetix > Incidental Mutation

Incidental Mutation 'R9415:Gtf3c4'

711979

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c4

Ensembl Gene

ENSMUSG00000035666

Gene Name

general transcription factor IIIC, polypeptide 4

Synonyms

KAT12

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28712311-28730372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28723966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 589 (S589P)

Ref Sequence

ENSEMBL: ENSMUSP00000042265 (fasta)

Gene Model

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

AlphaFold

Q8BMQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037117
AA Change: S589P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: S589P

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

possibly damaging
Transcript: ENSMUST00000171404
AA Change: S448P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: S448P

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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,476,598 (GRCm39)	M1340T	probably benign	Het
Arhgef15	A	G	11: 68,842,233 (GRCm39)	L457P	probably damaging	Het
Arih2	A	T	9: 108,486,986 (GRCm39)	C317S	probably damaging	Het
Asb14	A	T	14: 26,633,793 (GRCm39)	T333S	probably damaging	Het
Atp13a4	T	C	16: 29,227,821 (GRCm39)	N1012S		Het
Capn9	C	A	8: 125,332,449 (GRCm39)	D429E	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cntrob	C	T	11: 69,193,741 (GRCm39)	R803Q	possibly damaging	Het
Dnah8	A	G	17: 31,029,297 (GRCm39)	I4089V	probably benign	Het
Fam162b	A	G	10: 51,466,155 (GRCm39)		probably null	Het
Fhod3	A	G	18: 25,102,244 (GRCm39)	D180G	probably damaging	Het
Jcad	T	C	18: 4,673,912 (GRCm39)	L558P	probably damaging	Het
Kmt2d	A	G	15: 98,737,586 (GRCm39)	I5170T	unknown	Het
Lamb3	T	C	1: 193,008,319 (GRCm39)	F251L	probably benign	Het
Lpxn	T	A	19: 12,802,336 (GRCm39)	D220E	probably benign	Het
Mex3a	T	A	3: 88,444,480 (GRCm39)	F519I	probably damaging	Het
Mfap1a	T	C	2: 121,337,001 (GRCm39)	M8V	probably benign	Het
Mical3	T	A	6: 120,934,712 (GRCm39)	D1789V	probably damaging	Het
Mpdz	G	A	4: 81,235,905 (GRCm39)	Q1211*	probably null	Het
Myd88	A	G	9: 119,167,070 (GRCm39)		probably null	Het
Myof	T	A	19: 37,941,412 (GRCm39)	K799N	probably damaging	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntn4	A	G	10: 93,480,488 (GRCm39)	T71A	probably benign	Het
Omd	A	C	13: 49,745,837 (GRCm39)	M416L	probably benign	Het
Oog1	G	C	12: 87,655,086 (GRCm39)	L411F	probably damaging	Het
Or10a3m	T	A	7: 108,313,042 (GRCm39)	W161R	probably damaging	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or56a5	T	G	7: 104,793,498 (GRCm39)	M7L	probably benign	Het
Or7e171-ps1	A	G	9: 19,853,200 (GRCm39)	W179R	probably benign	Het
Pde4dip	T	C	3: 97,660,468 (GRCm39)	Q670R	possibly damaging	Het
Pex13	C	A	11: 23,601,034 (GRCm39)	G272V	probably damaging	Het
Pfkl	A	T	10: 77,824,081 (GRCm39)	V769D	probably damaging	Het
Pkn3	A	G	2: 29,968,332 (GRCm39)	Y10C	probably benign	Het
Pomgnt1	A	G	4: 116,013,378 (GRCm39)	H500R	probably damaging	Het
Rasef	T	C	4: 73,645,882 (GRCm39)	T496A	probably benign	Het
Rgs6	A	G	12: 83,184,166 (GRCm39)	S459G	probably benign	Het
Serpinb6b	A	T	13: 33,159,002 (GRCm39)	M187L		Het
Shcbp1l	A	G	1: 153,321,627 (GRCm39)	I408M	possibly damaging	Het
Slc25a45	T	C	19: 5,934,967 (GRCm39)	V272A	probably damaging	Het
Tlr4	T	C	4: 66,746,160 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,550,064 (GRCm39)	N774I		Het
Urb2	T	A	8: 124,756,613 (GRCm39)	S773R	possibly damaging	Het
Vmn1r35	A	T	6: 66,656,115 (GRCm39)	V185E	probably damaging	Het
Vps13d	A	C	4: 144,796,527 (GRCm39)	V3691G		Het
Wdtc1	A	G	4: 133,022,684 (GRCm39)	V554A	possibly damaging	Het
Xrn1	A	T	9: 95,851,527 (GRCm39)	M182L	probably damaging	Het
Zfp747	T	C	7: 126,973,198 (GRCm39)	H324R	possibly damaging	Het

Other mutations in Gtf3c4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Gtf3c4	APN	2	28,723,584 (GRCm39)	missense	probably benign
IGL01419:Gtf3c4	APN	2	28,725,081 (GRCm39)	missense	probably damaging	1.00
IGL01574:Gtf3c4	APN	2	28,724,448 (GRCm39)	missense	possibly damaging	0.50
IGL01778:Gtf3c4	APN	2	28,725,100 (GRCm39)	missense	probably damaging	1.00
IGL01802:Gtf3c4	APN	2	28,724,092 (GRCm39)	missense	probably damaging	1.00
IGL02560:Gtf3c4	APN	2	28,724,279 (GRCm39)	nonsense	probably null
R0190:Gtf3c4	UTSW	2	28,730,140 (GRCm39)	missense	probably benign	0.19
R0245:Gtf3c4	UTSW	2	28,724,976 (GRCm39)	missense	possibly damaging	0.71
R0440:Gtf3c4	UTSW	2	28,730,181 (GRCm39)	splice site	probably null
R0882:Gtf3c4	UTSW	2	28,724,782 (GRCm39)	missense	probably damaging	1.00
R1757:Gtf3c4	UTSW	2	28,720,648 (GRCm39)	splice site	probably benign
R1809:Gtf3c4	UTSW	2	28,723,988 (GRCm39)	nonsense	probably null
R1893:Gtf3c4	UTSW	2	28,724,374 (GRCm39)	missense	possibly damaging	0.92
R1903:Gtf3c4	UTSW	2	28,729,968 (GRCm39)	missense	probably benign	0.19
R2020:Gtf3c4	UTSW	2	28,723,906 (GRCm39)	missense	possibly damaging	0.81
R2867:Gtf3c4	UTSW	2	28,729,916 (GRCm39)	utr 5 prime	probably benign
R3076:Gtf3c4	UTSW	2	28,725,165 (GRCm39)	missense	possibly damaging	0.56
R4113:Gtf3c4	UTSW	2	28,717,567 (GRCm39)	missense	probably damaging	1.00
R4404:Gtf3c4	UTSW	2	28,716,761 (GRCm39)	missense	probably damaging	1.00
R5751:Gtf3c4	UTSW	2	28,717,511 (GRCm39)	missense	probably damaging	1.00
R5997:Gtf3c4	UTSW	2	28,723,723 (GRCm39)	missense	possibly damaging	0.62
R8162:Gtf3c4	UTSW	2	28,724,593 (GRCm39)	nonsense	probably null
R9164:Gtf3c4	UTSW	2	28,724,661 (GRCm39)	missense	probably benign	0.31
R9170:Gtf3c4	UTSW	2	28,730,214 (GRCm39)	missense	possibly damaging	0.86
R9232:Gtf3c4	UTSW	2	28,724,848 (GRCm39)	missense	probably damaging	1.00
R9308:Gtf3c4	UTSW	2	28,724,982 (GRCm39)	missense	probably damaging	1.00
R9752:Gtf3c4	UTSW	2	28,724,126 (GRCm39)	missense	probably damaging	1.00
Z1177:Gtf3c4	UTSW	2	28,725,085 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTCCTCTACAGGTTCACGGC -3'
(R):5'- CTTTAAGCAGGTAGACTTGATCG -3'

Sequencing Primer
(F):5'- CTGCAGTGAGTGAGTCCTCAG -3'
(R):5'- GTAGACTTGATCGACCTGGTCC -3'

Posted On

2022-05-16