Mutagenetix > Incidental Mutation

Incidental Mutation 'R8162:Gtf3c4'

633555

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c4

Ensembl Gene

ENSMUSG00000035666

Gene Name

general transcription factor IIIC, polypeptide 4

Synonyms

KAT12

MMRRC Submission

067588-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28712311-28730372 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 28724593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 380 (Q380*)

Ref Sequence

ENSEMBL: ENSMUSP00000042265 (fasta)

Gene Model

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

AlphaFold

Q8BMQ2

Predicted Effect

probably null
Transcript: ENSMUST00000037117
AA Change: Q380*

SMART Domains

Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: Q380*

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 null
Transcript: ENSMUST00000171404
AA Change: Q239*

SMART Domains

Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: Q239*

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: 99.3%
20x: 97.8%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7b	T	A	15: 77,307,430 (GRCm39)	Q355L	probably benign	Het
Asb14	A	T	14: 26,633,945 (GRCm39)	Q383H	probably benign	Het
Ash1l	T	G	3: 88,977,553 (GRCm39)	M2661R	probably damaging	Het
Cacna1e	G	T	1: 154,577,313 (GRCm39)		probably null	Het
Ccdc40	G	T	11: 119,150,870 (GRCm39)		probably null	Het
Cd27	T	A	6: 125,210,188 (GRCm39)		probably null	Het
Ces3b	T	C	8: 105,817,385 (GRCm39)	L371S	possibly damaging	Het
Clec4a2	T	A	6: 123,117,711 (GRCm39)	Y210N	probably damaging	Het
Cpeb2	A	T	5: 43,394,681 (GRCm39)	H553L		Het
Cpne8	T	C	15: 90,503,881 (GRCm39)	I95V	probably benign	Het
D630039A03Rik	T	C	4: 57,910,525 (GRCm39)	T96A	probably benign	Het
Dand5	C	A	8: 85,543,147 (GRCm39)	G110C	probably damaging	Het
Erich3	C	T	3: 154,470,210 (GRCm39)	T1554M	unknown	Het
Evi5l	T	C	8: 4,241,300 (GRCm39)	S278P	probably damaging	Het
Farp2	C	A	1: 93,548,325 (GRCm39)	H1003Q	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm13741	A	C	2: 87,486,446 (GRCm39)	M273R	possibly damaging	Het
Gm28363	T	A	1: 117,626,641 (GRCm39)	D26E	unknown	Het
Gm8674	A	T	13: 50,054,407 (GRCm39)	D700E	noncoding transcript	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1a	A	T	2: 129,148,477 (GRCm39)	S78T	possibly damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Mcc	T	C	18: 44,582,508 (GRCm39)		probably null	Het
Met	A	G	6: 17,547,061 (GRCm39)	D898G	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Mrgpra4	A	T	7: 47,631,221 (GRCm39)	Y127N	probably damaging	Het
Ms4a18	A	G	19: 10,991,071 (GRCm39)	S8P	probably benign	Het
Muc4	A	T	16: 32,569,197 (GRCm39)	T148S	unknown	Het
Nutm1	G	A	2: 112,078,817 (GRCm39)	L1033F	probably benign	Het
Ocstamp	G	T	2: 165,239,787 (GRCm39)	A133D	probably damaging	Het
Or1ab2	T	G	8: 72,864,253 (GRCm39)	V281G	noncoding transcript	Het
Or5p63	T	C	7: 107,810,995 (GRCm39)	H247R	probably damaging	Het
Or8g17	T	A	9: 38,930,249 (GRCm39)	D196V	probably benign	Het
Or9s18	G	A	13: 65,300,734 (GRCm39)	R232Q	probably damaging	Het
Phf12	C	A	11: 77,915,651 (GRCm39)	P46Q	probably damaging	Het
Prf1	A	G	10: 61,138,749 (GRCm39)	T236A	probably damaging	Het
Ptcd3	A	G	6: 71,884,798 (GRCm39)	V47A	probably benign	Het
Rapgef1	A	T	2: 29,626,011 (GRCm39)	N1071Y	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	C	A	6: 76,473,558 (GRCm39)	A353S	probably benign	Het
Tango6	C	T	8: 107,409,882 (GRCm39)	P33L	possibly damaging	Het
Tasor2	G	T	13: 3,649,691 (GRCm39)	T36N	probably damaging	Het
Tbc1d2b	C	T	9: 90,089,937 (GRCm39)	R864H	probably damaging	Het
Tent2	A	G	13: 93,304,432 (GRCm39)		probably null	Het
Trav10n	A	T	14: 53,359,929 (GRCm39)	I69L	probably benign	Het
Tsks	A	G	7: 44,603,296 (GRCm39)	Q366R	probably damaging	Het
Vcan	G	T	13: 89,853,106 (GRCm39)	S618*	probably null	Het
Vwf	T	A	6: 125,622,799 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,206 (GRCm39)	L124*	probably null	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
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
R9415:Gtf3c4	UTSW	2	28,723,966 (GRCm39)	missense	possibly damaging	0.95
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'- GGTGTACACTGTTCCATTCTGC -3'
(R):5'- TTGAGTCAGGAATCAGCTCCC -3'

Sequencing Primer
(F):5'- TGCTTGTCTGCAGTAATGGAG -3'
(R):5'- AGGAATCAGCTCCCCCAGTG -3'

Posted On

2020-07-13