Mutagenetix > Incidental Mutation

Incidental Mutation 'R4551:Gtf2h3'

333949

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h3

Ensembl Gene

ENSMUSG00000029387

Gene Name

general transcription factor IIH, polypeptide 3

Synonyms

5033417D07Rik, BTF2, D5Ertd679e, 34kDa

MMRRC Submission

041782-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R4551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124717211-124735743 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 124728482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031333]

AlphaFold

Q8VD76

Predicted Effect

probably benign
Transcript: ENSMUST00000031333

SMART Domains

Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387

Domain	Start	End	E-Value	Type
Pfam:Tfb4	8	287	2.1e-108	PFAM
low complexity region	299	306	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153436

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	G	11: 119,902,395 (GRCm39)	E610A	probably benign	Het
Abhd17b	T	C	19: 21,658,290 (GRCm39)	S176P	possibly damaging	Het
Adgrg7	A	G	16: 56,568,375 (GRCm39)	Y427H	probably damaging	Het
Alox15	T	A	11: 70,235,422 (GRCm39)	I647L	probably benign	Het
Ankhd1	C	A	18: 36,788,560 (GRCm39)		probably null	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Armcx5	T	A	X: 134,647,256 (GRCm39)	V444D	probably damaging	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Cog6	T	A	3: 52,905,741 (GRCm39)	E96V	probably damaging	Het
Cox20	A	C	1: 178,150,114 (GRCm39)	N96T	probably benign	Het
Cpa3	T	C	3: 20,273,934 (GRCm39)	I351V	probably benign	Het
Cpd	C	T	11: 76,702,712 (GRCm39)	G552D	probably damaging	Het
Cyld	A	G	8: 89,433,762 (GRCm39)	K184E	possibly damaging	Het
Dab2	G	A	15: 6,464,775 (GRCm39)	G324D	probably damaging	Het
Depdc1a	T	A	3: 159,228,221 (GRCm39)	D324E	probably damaging	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dync1i1	T	A	6: 5,923,206 (GRCm39)	D275E	probably benign	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Farp2	T	A	1: 93,546,314 (GRCm39)	L868Q	possibly damaging	Het
Gpr45	A	G	1: 43,071,950 (GRCm39)	T198A	probably benign	Het
Grk2	C	T	19: 4,336,084 (GRCm39)	V402M	possibly damaging	Het
Gsap	A	T	5: 21,495,569 (GRCm39)	D79V	probably damaging	Het
Hus1b	C	A	13: 31,131,059 (GRCm39)	S200I	probably damaging	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ikbke	T	C	1: 131,185,770 (GRCm39)		probably benign	Het
Kat6b	A	G	14: 21,711,516 (GRCm39)	E670G	probably damaging	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Lhx3	G	A	2: 26,091,202 (GRCm39)	P369L	probably damaging	Het
Man2c1	T	C	9: 57,038,445 (GRCm39)	L35P	probably damaging	Het
Mical2	T	A	7: 111,981,123 (GRCm39)	S366T	possibly damaging	Het
Mroh9	A	T	1: 162,871,662 (GRCm39)	I607N	probably damaging	Het
Mybphl	T	C	3: 108,281,479 (GRCm39)	I65T	possibly damaging	Het
Myo1g	A	G	11: 6,467,874 (GRCm39)	I187T	probably damaging	Het
Myo7b	T	C	18: 32,118,161 (GRCm39)	S822G	probably benign	Het
Nkx2-4	C	A	2: 146,926,842 (GRCm39)	A142S	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or12k7	G	T	2: 36,958,355 (GRCm39)	V13L	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or56b1	A	T	7: 104,285,631 (GRCm39)	H250L	probably damaging	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pcdhb16	T	C	18: 37,612,887 (GRCm39)	F616L	probably damaging	Het
Pdk3	A	T	X: 92,825,846 (GRCm39)	M253K	probably damaging	Het
Pgap2	C	A	7: 101,875,674 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,414,281 (GRCm39)	N2849K	probably damaging	Het
Pprc1	A	G	19: 46,055,664 (GRCm39)		probably benign	Het
Psma2	A	G	13: 14,791,430 (GRCm39)	Y25C	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptpn5	C	A	7: 46,740,600 (GRCm39)		probably benign	Het
Pxn	G	T	5: 115,690,779 (GRCm39)		probably benign	Het
Scd3	C	A	19: 44,203,878 (GRCm39)	A22E	probably benign	Het
Sdr42e1	T	C	8: 118,390,347 (GRCm39)	E98G	probably benign	Het
Slc14a2	A	C	18: 78,239,068 (GRCm39)	S184A	probably benign	Het
Tmem236	A	T	2: 14,223,964 (GRCm39)	Q251L	probably benign	Het
Trappc8	T	C	18: 21,007,729 (GRCm39)	T129A	probably benign	Het
Vmn1r90	A	C	7: 14,295,894 (GRCm39)	M68R	possibly damaging	Het
Vmn2r105	A	G	17: 20,446,613 (GRCm39)	V462A	probably benign	Het
Vmn2r7	T	C	3: 64,598,110 (GRCm39)	T816A	possibly damaging	Het
Vmn2r81	T	A	10: 79,104,241 (GRCm39)	I288K	possibly damaging	Het
Zfp180	A	C	7: 23,803,998 (GRCm39)	K139T	possibly damaging	Het
Zfp932	T	C	5: 110,157,505 (GRCm39)	V401A	probably benign	Het

Other mutations in Gtf2h3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Gtf2h3	APN	5	124,733,731 (GRCm39)	missense	probably damaging	0.96
IGL01611:Gtf2h3	APN	5	124,733,748 (GRCm39)	missense	probably damaging	1.00
IGL01681:Gtf2h3	APN	5	124,732,854 (GRCm39)	missense	probably damaging	1.00
IGL03097:Gtf2h3	UTSW	5	124,740,231 (GRCm39)	unclassified	probably benign
R0599:Gtf2h3	UTSW	5	124,726,691 (GRCm39)	missense	probably benign	0.00
R1512:Gtf2h3	UTSW	5	124,728,933 (GRCm39)	missense	probably damaging	0.99
R1727:Gtf2h3	UTSW	5	124,728,419 (GRCm39)	missense	probably benign	0.00
R1880:Gtf2h3	UTSW	5	124,722,336 (GRCm39)	missense	probably benign	0.00
R1881:Gtf2h3	UTSW	5	124,722,336 (GRCm39)	missense	probably benign	0.00
R1929:Gtf2h3	UTSW	5	124,740,262 (GRCm39)	unclassified	probably benign
R2149:Gtf2h3	UTSW	5	124,737,848 (GRCm39)	unclassified	probably benign
R2359:Gtf2h3	UTSW	5	124,728,939 (GRCm39)	missense	probably damaging	1.00
R2993:Gtf2h3	UTSW	5	124,721,997 (GRCm39)	missense	probably benign	0.00
R4399:Gtf2h3	UTSW	5	124,740,126 (GRCm39)	unclassified	probably benign
R5282:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5289:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5566:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5567:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5569:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5570:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5581:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5583:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5709:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5784:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5967:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R5968:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R6036:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R6050:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R6518:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R6519:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R6520:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R6526:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R6528:Gtf2h3	UTSW	5	124,722,360 (GRCm39)	missense	probably benign	0.00
R7176:Gtf2h3	UTSW	5	124,728,433 (GRCm39)	missense	probably damaging	0.99
R7184:Gtf2h3	UTSW	5	124,722,067 (GRCm39)	missense	probably benign	0.22
R8262:Gtf2h3	UTSW	5	124,728,967 (GRCm39)	nonsense	probably null
R8270:Gtf2h3	UTSW	5	124,734,050 (GRCm39)	makesense	probably null
R8323:Gtf2h3	UTSW	5	124,720,534 (GRCm39)	missense	probably benign	0.01
R8361:Gtf2h3	UTSW	5	124,733,731 (GRCm39)	missense	probably damaging	0.96
R8736:Gtf2h3	UTSW	5	124,728,972 (GRCm39)	missense	probably damaging	1.00
Z1176:Gtf2h3	UTSW	5	124,717,238 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGTACAGGGGAATGCCAG -3'
(R):5'- GGTCCTTGTTAGACTGATAGGC -3'

Sequencing Primer
(F):5'- GGACTTTTGTTATAGCATTGGAAATG -3'
(R):5'- GATAGGCATCTATCCAGAGTACC -3'

Posted On

2015-08-18