Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Gtf3c4'

65733

Institutional Source

Beutler Lab

Gene Symbol

Gtf3c4

Ensembl Gene

ENSMUSG00000035666

Gene Name

general transcription factor IIIC, polypeptide 4

Synonyms

KAT12

MMRRC Submission

038641-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0440 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

28712311-28730372 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 28730181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037117] [ENSMUST00000113853] [ENSMUST00000171404]

AlphaFold

Q8BMQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000037117
AA Change: A20E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: A20E

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: ENSMUST00000113853

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806

Domain	Start	End	E-Value	Type
DEXDc	123	332	2.28e-48	SMART
HELICc	408	487	4.02e-26	SMART
DUF4217	556	621	6.21e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156468

Predicted Effect

probably benign
Transcript: ENSMUST00000171404

SMART Domains

Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666

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

Meta Mutation Damage Score

0.0952

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,694 (GRCm39)	R30W	probably damaging	Het
Adam7	T	C	14: 68,748,305 (GRCm39)		probably null	Het
Agl	A	T	3: 116,552,455 (GRCm39)	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,114,569 (GRCm39)	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,537,207 (GRCm39)	D316V	probably benign	Het
App	C	A	16: 84,853,302 (GRCm39)	E259*	probably null	Het
Arhgef4	A	G	1: 34,784,529 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,121,984 (GRCm39)		probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,964,053 (GRCm39)	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,483,013 (GRCm39)		probably null	Het
Ccar1	C	T	10: 62,616,236 (GRCm39)	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,063,244 (GRCm39)	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917 (GRCm39)	I205V	probably benign	Het
Cfap52	T	A	11: 67,844,914 (GRCm39)	I52L	probably benign	Het
Chd8	T	A	14: 52,442,283 (GRCm39)	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,428,372 (GRCm39)	T423I	probably damaging	Het
Col13a1	T	C	10: 61,703,262 (GRCm39)	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,298,231 (GRCm39)	V592M	probably damaging	Het
Ddx31	A	T	2: 28,747,144 (GRCm39)	I208F	probably damaging	Het
Dlat	A	T	9: 50,556,419 (GRCm39)		probably null	Het
Eml4	T	C	17: 83,753,487 (GRCm39)		probably null	Het
Enpp2	T	A	15: 54,710,633 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,244,315 (GRCm39)	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,307,680 (GRCm39)	T15I	probably benign	Het
Gm21834	T	C	17: 58,049,121 (GRCm39)	T32A	possibly damaging	Het
Golga2	A	G	2: 32,192,945 (GRCm39)	D394G	probably damaging	Het
Igkv4-69	A	G	6: 69,261,253 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,451,150 (GRCm39)	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980 (GRCm39)		probably benign	Het
Klhl36	A	G	8: 120,603,290 (GRCm39)	E515G	probably damaging	Het
Lifr	C	T	15: 7,186,672 (GRCm39)	R59*	probably null	Het
Lrif1	A	T	3: 106,641,714 (GRCm39)	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,726,295 (GRCm39)	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,747,667 (GRCm39)	D307E	probably benign	Het
Mpv17l	T	C	16: 13,762,583 (GRCm39)	F27L	probably damaging	Het
Mta3	C	T	17: 84,074,016 (GRCm39)	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,345,771 (GRCm39)	Y202*	probably null	Het
Naprt	A	G	15: 75,762,918 (GRCm39)		probably benign	Het
Npr2	T	A	4: 43,650,315 (GRCm39)	V960D	probably damaging	Het
Oca2	A	T	7: 56,073,100 (GRCm39)	Y765F	probably benign	Het
Or2d2	A	T	7: 106,727,939 (GRCm39)	H220Q	probably benign	Het
Plxna2	T	A	1: 194,326,712 (GRCm39)	Y215*	probably null	Het
Prdm16	G	A	4: 154,561,084 (GRCm39)		probably benign	Het
Ptn	A	G	6: 36,721,432 (GRCm39)	S3P	probably benign	Het
Pus10	T	C	11: 23,623,331 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,831,754 (GRCm39)	D442E	probably benign	Het
Rmdn2	A	G	17: 79,975,384 (GRCm39)	H291R	probably damaging	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,107,585 (GRCm39)	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,734,822 (GRCm39)		probably benign	Het
Slc13a2	T	C	11: 78,294,001 (GRCm39)	N254D	probably benign	Het
Slc16a8	T	A	15: 79,136,807 (GRCm39)	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,694,976 (GRCm39)	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,903 (GRCm39)	M1L	probably benign	Het
Smc1b	A	G	15: 84,996,874 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,785,792 (GRCm39)	S617G	probably benign	Het
Stk10	A	G	11: 32,554,190 (GRCm39)	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,711,466 (GRCm39)	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,486,671 (GRCm39)	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,066,726 (GRCm39)	V309A	probably benign	Het
Tubgcp6	A	G	15: 88,987,268 (GRCm39)	I1235T	probably benign	Het
Usp8	A	G	2: 126,567,310 (GRCm39)	I110V	probably benign	Het
Vps13c	G	A	9: 67,880,143 (GRCm39)	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp207	T	A	11: 80,286,333 (GRCm39)		probably benign	Het
Zfp748	A	C	13: 67,701,144 (GRCm39)		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
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
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'- TGCACATCGCAGATAAGCTCCAG -3'
(R):5'- ACCCAGTGTCTAGGAAAGGGACTC -3'

Sequencing Primer
(F):5'- ATAAGCTCCAGCACGGCG -3'
(R):5'- TTTCCAGACAGGCAGCTC -3'

Posted On

2013-08-09