Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Gtf2h3'

558615

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

045267-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124717211-124735743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124728433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 161 (R161G)

Ref Sequence

ENSEMBL: ENSMUSP00000031333 (fasta)

Gene Model

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

AlphaFold

Q8VD76

Predicted Effect

probably damaging
Transcript: ENSMUST00000031333
AA Change: R161G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: R161G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,203 (GRCm39)	H267N	probably benign	Het
Abtb2	A	G	2: 103,539,720 (GRCm39)	D695G	probably benign	Het
Adam21	C	T	12: 81,607,022 (GRCm39)	D247N	possibly damaging	Het
Adnp	T	C	2: 168,024,578 (GRCm39)	N906D	probably benign	Het
Ankrd17	A	T	5: 90,416,594 (GRCm39)	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202 (GRCm39)	N60Y	probably damaging	Het
Art4	T	G	6: 136,834,166 (GRCm39)	T26P	probably benign	Het
Arvcf	T	C	16: 18,218,477 (GRCm39)	L553P	probably damaging	Het
Asxl1	T	A	2: 153,243,908 (GRCm39)	I1487N	probably damaging	Het
Capn3	A	T	2: 120,334,973 (GRCm39)	Y820F	possibly damaging	Het
Catip	A	G	1: 74,401,941 (GRCm39)	T39A	probably damaging	Het
Ccdc168	A	T	1: 44,099,506 (GRCm39)	S531T	probably benign	Het
Ccdc18	T	A	5: 108,315,972 (GRCm39)	C481S	probably benign	Het
Ccnf	A	G	17: 24,468,376 (GRCm39)	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdkl4	A	T	17: 80,851,221 (GRCm39)	Y160*	probably null	Het
Celsr3	C	T	9: 108,722,961 (GRCm39)	P2783S	probably benign	Het
Cisd3	A	T	11: 97,576,959 (GRCm39)	D11V	probably benign	Het
Daxx	A	T	17: 34,132,292 (GRCm39)	H512L	unknown	Het
Dip2b	A	G	15: 100,067,199 (GRCm39)	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,469,969 (GRCm39)	A18E	probably benign	Het
Eif3d	A	T	15: 77,847,434 (GRCm39)	V268D	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,004,162 (GRCm39)	M625V	unknown	Het
Foxn1	T	C	11: 78,251,693 (GRCm39)	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,056,828 (GRCm39)	V134I	probably benign	Het
Ice1	A	G	13: 70,772,525 (GRCm39)		probably null	Het
Il1rl1	T	C	1: 40,485,766 (GRCm39)	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,665,194 (GRCm39)	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,443,600 (GRCm39)	K404N	possibly damaging	Het
Lins1	T	C	7: 66,363,553 (GRCm39)	W483R	probably benign	Het
Lipo2	A	G	19: 33,723,207 (GRCm39)	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,661,992 (GRCm39)	A137S	probably benign	Het
Mdm1	C	A	10: 117,978,770 (GRCm39)	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 47,818,059 (GRCm39)	L225F	possibly damaging	Het
Myh11	T	A	16: 14,033,690 (GRCm39)	H1068L		Het
Ngef	A	T	1: 87,408,417 (GRCm39)	V550E	possibly damaging	Het
Nrg1	G	A	8: 32,458,064 (GRCm39)	Q84*	probably null	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Ocln	C	A	13: 100,651,590 (GRCm39)	G327C	probably damaging	Het
Ocln	A	C	13: 100,651,591 (GRCm39)	N326K	probably benign	Het
Or10ag55-ps1	C	T	2: 87,115,378 (GRCm39)	A248V	probably damaging	Het
Otogl	T	C	10: 107,614,772 (GRCm39)	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 115,987,331 (GRCm39)	D530G	possibly damaging	Het
Plod1	A	T	4: 147,997,744 (GRCm39)	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,148,904 (GRCm39)	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,521,989 (GRCm39)	T563K	probably damaging	Het
Prepl	T	A	17: 85,376,454 (GRCm39)	L533F	probably benign	Het
Rbl1	G	A	2: 157,030,245 (GRCm39)	R421W	probably damaging	Het
Rrp15	G	A	1: 186,453,730 (GRCm39)	S239L	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	A	G	5: 124,530,944 (GRCm39)	S815P	probably benign	Het
Scn7a	G	A	2: 66,506,632 (GRCm39)	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,244,458 (GRCm39)		probably null	Het
Shpk	A	G	11: 73,113,814 (GRCm39)	H409R	probably benign	Het
Slamf6	A	C	1: 171,761,858 (GRCm39)	N93T	probably benign	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc35g1	T	A	19: 38,391,771 (GRCm39)	V351E	probably damaging	Het
Smcr8	A	T	11: 60,669,772 (GRCm39)	I307F	probably damaging	Het
Spats2l	T	C	1: 57,977,077 (GRCm39)	I305T	possibly damaging	Het
Speer4c1	T	C	5: 15,916,536 (GRCm39)	T144A	probably benign	Het
Tbl3	G	A	17: 24,919,732 (GRCm39)	T774I	probably benign	Het
Ush2a	A	G	1: 188,269,925 (GRCm39)	H1724R	probably benign	Het
Vcan	A	G	13: 89,837,055 (GRCm39)	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,168,995 (GRCm39)	I712F	probably benign	Het
Wdr59	T	G	8: 112,219,388 (GRCm39)	Q223P		Het
Zfp28	T	A	7: 6,386,456 (GRCm39)	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,180,276 (GRCm39)		probably null	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
R4551:Gtf2h3	UTSW	5	124,728,482 (GRCm39)	intron	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
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'- ACACCAGAGCTTCATGGTCC -3'

Sequencing Primer
(F):5'- TGCCAGGGCCAAGAAGTG -3'
(R):5'- CAGAGCTTCATGGTCCTTGTTAGAC -3'

Posted On

2019-06-26