Mutagenetix > Incidental Mutation

Incidental Mutation 'R8744:Gtf2h5'

663446

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h5

Ensembl Gene

ENSMUSG00000034345

Gene Name

general transcription factor IIH, polypeptide 5

Synonyms

2700017P07Rik, 2810432H05Rik, D17Wsu155e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8744 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

6130103-6135763 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

C to CA at 6134833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024570] [ENSMUST00000039487] [ENSMUST00000097432] [ENSMUST00000100955]

AlphaFold

Q8K2X8

Predicted Effect

probably benign
Transcript: ENSMUST00000024570

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
low complexity region	161	169	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
SCOP:d1jdha_	243	336	3e-5	SMART
Pfam:PGAP1	360	519	3.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000039487

SMART Domains

Protein: ENSMUSP00000040355
Gene: ENSMUSG00000034345

Domain	Start	End	E-Value	Type
Pfam:Tbf5	1	70	3.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097432

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
SCOP:d1gw5a_	89	464	3e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000100955

SMART Domains

Protein: ENSMUSP00000098515
Gene: ENSMUSG00000034345

Domain	Start	End	E-Value	Type
Pfam:Tfb5	1	68	6.8e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
Adam2	A	G	14: 66,272,165 (GRCm39)		probably null	Het
Akt2	A	T	7: 27,317,738 (GRCm39)	D94V	probably benign	Het
Anapc7	C	T	5: 122,566,211 (GRCm39)	S40L	probably benign	Het
Ash1l	G	T	3: 88,965,890 (GRCm39)	A2431S	possibly damaging	Het
Atoh1	A	T	6: 64,706,902 (GRCm39)	Q199L	probably damaging	Het
Atp10b	T	C	11: 43,121,177 (GRCm39)	C947R	probably damaging	Het
Ccdc50	G	A	16: 27,255,148 (GRCm39)	V199I	possibly damaging	Het
Ccne1	A	T	7: 37,802,598 (GRCm39)	C65S	probably benign	Het
Cep152	A	G	2: 125,436,791 (GRCm39)		probably null	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cyp4a10	A	G	4: 115,386,667 (GRCm39)	D438G	probably benign	Het
Dgkb	A	G	12: 38,488,611 (GRCm39)	H659R	probably damaging	Het
Dhx29	A	G	13: 113,089,418 (GRCm39)	I730V	possibly damaging	Het
Dync2h1	G	A	9: 7,011,220 (GRCm39)	Q3658*	probably null	Het
Eif2ak4	C	A	2: 118,261,474 (GRCm39)	C671*	probably null	Het
Eif4g3	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	4: 137,721,372 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,889,925 (GRCm39)	H446R	unknown	Het
Epb41l2	C	T	10: 25,317,725 (GRCm39)	L81F	probably damaging	Het
Ercc8	G	A	13: 108,320,307 (GRCm39)	A298T	probably benign	Het
Fbxo10	T	C	4: 45,043,880 (GRCm39)	M648V	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gnpda2	C	T	5: 69,735,459 (GRCm39)	A211T	probably damaging	Het
Hormad1	T	C	3: 95,469,926 (GRCm39)	Y58H	possibly damaging	Het
Igkv4-81	T	C	6: 68,968,046 (GRCm39)	I18M	possibly damaging	Het
Itgav	G	T	2: 83,600,427 (GRCm39)	A312S	probably benign	Het
Itpr1	G	T	6: 108,354,763 (GRCm39)	A457S	possibly damaging	Het
Kcna10	T	C	3: 107,101,702 (GRCm39)	L111P	probably damaging	Het
Kcnh7	T	C	2: 63,012,433 (GRCm39)	R92G	possibly damaging	Het
Lamc2	G	A	1: 153,019,484 (GRCm39)	P486S	probably benign	Het
Lrba	C	T	3: 86,211,640 (GRCm39)	T420M	probably benign	Het
Lrrc52	G	A	1: 167,294,150 (GRCm39)	T45M	probably benign	Het
Lsm8	C	A	6: 18,853,638 (GRCm39)	A80E	probably benign	Het
Ly6g	T	A	15: 75,027,518 (GRCm39)	S9T	probably benign	Het
Mcc	A	G	18: 44,857,639 (GRCm39)	Y159H	probably benign	Het
Megf11	T	C	9: 64,451,970 (GRCm39)		probably null	Het
Mrpl9	T	A	3: 94,355,082 (GRCm39)		probably benign	Het
Ndst4	T	C	3: 125,506,989 (GRCm39)	F210L	possibly damaging	Het
Or13l2	A	G	3: 97,317,597 (GRCm39)	V300A	probably benign	Het
Or5d40	T	A	2: 88,015,723 (GRCm39)	C167*	probably null	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pcdhga2	A	G	18: 37,804,373 (GRCm39)	H739R	probably benign	Het
Pcdhga8	A	G	18: 37,860,827 (GRCm39)	T628A	probably damaging	Het
Plekhn1	C	T	4: 156,318,364 (GRCm39)	R86H	probably damaging	Het
Pofut1	T	A	2: 153,101,461 (GRCm39)	W72R	probably benign	Het
Polr3b	C	A	10: 84,464,488 (GRCm39)		probably benign	Het
Rab3b	A	T	4: 108,781,184 (GRCm39)	I104F	probably damaging	Het
Rab5b	A	T	10: 128,518,751 (GRCm39)	V127D	probably damaging	Het
Rnf170	A	G	8: 26,619,408 (GRCm39)	M211V	unknown	Het
Rpl7	T	C	1: 16,172,113 (GRCm39)	T218A	probably benign	Het
Serinc2	T	C	4: 130,158,988 (GRCm39)		probably benign	Het
Socs2	T	A	10: 95,228,662 (GRCm39)	Q196L		Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Syvn1	G	A	19: 6,099,198 (GRCm39)	G149D	probably damaging	Het
Them5	T	C	3: 94,253,472 (GRCm39)	S161P	probably damaging	Het
Tlr1	A	T	5: 65,083,873 (GRCm39)	Y235N	possibly damaging	Het
Toporsl	T	C	4: 52,611,967 (GRCm39)	L620P	probably benign	Het
Traf3	A	T	12: 111,228,230 (GRCm39)	E480D	probably benign	Het
Trav13n-4	A	G	14: 53,601,399 (GRCm39)	Y56C	probably damaging	Het
Trps1	T	C	15: 50,524,642 (GRCm39)	Y1096C	probably damaging	Het
Usp2	A	G	9: 43,998,510 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,911,491 (GRCm39)	L512Q	probably benign	Het
Vmn1r175	T	C	7: 23,508,403 (GRCm39)	T75A	probably benign	Het
Zan	A	G	5: 137,426,126 (GRCm39)	V2550A	unknown	Het
Zfp235	A	T	7: 23,839,924 (GRCm39)	E114D	possibly damaging	Het
Zmym1	A	T	4: 126,945,165 (GRCm39)	D141E	probably damaging	Het

Other mutations in Gtf2h5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02325:Gtf2h5	APN	17	6,131,106 (GRCm39)	splice site	probably null
R2220:Gtf2h5	UTSW	17	6,134,853 (GRCm39)	missense	probably benign
R5664:Gtf2h5	UTSW	17	6,134,799 (GRCm39)	missense	probably damaging	1.00
R7418:Gtf2h5	UTSW	17	6,134,903 (GRCm39)	missense	probably damaging	1.00
R8723:Gtf2h5	UTSW	17	6,134,833 (GRCm39)	frame shift	probably null
R8724:Gtf2h5	UTSW	17	6,134,833 (GRCm39)	frame shift	probably null
R8743:Gtf2h5	UTSW	17	6,134,833 (GRCm39)	frame shift	probably null
R8753:Gtf2h5	UTSW	17	6,134,833 (GRCm39)	frame shift	probably null
R8754:Gtf2h5	UTSW	17	6,134,833 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTATGTCGTCCTGAAAAGTCACC -3'
(R):5'- GAATGACCCTGCAGCCTTTC -3'

Sequencing Primer
(F):5'- ACCACTCTCAGAAGTGGTTG -3'
(R):5'- GCAGCCTTTCCCACGACATG -3'

Posted On

2021-03-08