Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Gtf2h4'

244026

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h4

Ensembl Gene

ENSMUSG00000001524

Gene Name

general transcription factor II H, polypeptide 4

Synonyms

p52

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R2264 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

35978624-35984607 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 35979556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001565] [ENSMUST00000043674] [ENSMUST00000159852] [ENSMUST00000160039] [ENSMUST00000160734] [ENSMUST00000160752] [ENSMUST00000162266] [ENSMUST00000165144]

AlphaFold

O70422

Predicted Effect

probably benign
Transcript: ENSMUST00000001565

SMART Domains

Protein: ENSMUSP00000001565
Gene: ENSMUSG00000001524

Domain	Start	End	E-Value	Type
Pfam:Tfb2	22	375	6.4e-141	PFAM
PDB:3DOM\|C	383	459	7e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000043674

SMART Domains

Protein: ENSMUSP00000047917
Gene: ENSMUSG00000038838

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	112	736	3.3e-179	PFAM
Pfam:tRNA-synt_1g	141	221	2e-8	PFAM
Pfam:Anticodon_1	780	932	3.6e-32	PFAM
low complexity region	1005	1015	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159671

Predicted Effect

probably benign
Transcript: ENSMUST00000159852

SMART Domains

Protein: ENSMUSP00000124060
Gene: ENSMUSG00000001524

Domain	Start	End	E-Value	Type
Pfam:Tfb2	22	61	1.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160039

SMART Domains

Protein: ENSMUSP00000124683
Gene: ENSMUSG00000001524

Domain	Start	End	E-Value	Type
Pfam:Tfb2	22	164	2.9e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160711

Predicted Effect

probably benign
Transcript: ENSMUST00000160734

SMART Domains

Protein: ENSMUSP00000124335
Gene: ENSMUSG00000001524

Domain	Start	End	E-Value	Type
Pfam:Tfb2	22	375	1.9e-137	PFAM
PDB:3DOM\|C	383	459	7e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000160752

SMART Domains

Protein: ENSMUSP00000124458
Gene: ENSMUSG00000001524

Domain	Start	End	E-Value	Type
Pfam:Tfb2	22	160	6.4e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164978

Predicted Effect

probably benign
Transcript: ENSMUST00000162266

SMART Domains

Protein: ENSMUSP00000124103
Gene: ENSMUSG00000001524

Domain	Start	End	E-Value	Type
Pfam:Tfb2	22	91	1.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165144

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: This gene encodes a subunit of the general transcription factor multiprotein complex that plays roles in basal transcription, DNA repair and cell cycle control. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Gtf2h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Gtf2h4	APN	17	35,980,874 (GRCm39)	missense	probably damaging	1.00
IGL03412:Gtf2h4	APN	17	35,979,375 (GRCm39)	missense	probably damaging	0.98
miramont	UTSW	17	32,564,352 (GRCm39)	missense	probably damaging	0.97
R0112:Gtf2h4	UTSW	17	35,981,340 (GRCm39)	missense	possibly damaging	0.93
R0554:Gtf2h4	UTSW	17	35,979,531 (GRCm39)	missense	probably benign	0.06
R0928:Gtf2h4	UTSW	17	35,981,777 (GRCm39)	missense	probably damaging	1.00
R1917:Gtf2h4	UTSW	17	35,981,090 (GRCm39)	missense	possibly damaging	0.59
R1918:Gtf2h4	UTSW	17	35,981,090 (GRCm39)	missense	possibly damaging	0.59
R2287:Gtf2h4	UTSW	17	35,982,117 (GRCm39)	critical splice donor site	probably null
R2357:Gtf2h4	UTSW	17	35,978,891 (GRCm39)	missense	probably damaging	1.00
R2519:Gtf2h4	UTSW	17	35,981,801 (GRCm39)	missense	probably damaging	1.00
R4021:Gtf2h4	UTSW	17	35,981,556 (GRCm39)	missense	probably benign	0.35
R4881:Gtf2h4	UTSW	17	35,981,125 (GRCm39)	missense	possibly damaging	0.94
R5747:Gtf2h4	UTSW	17	35,981,273 (GRCm39)	missense	possibly damaging	0.66
R5889:Gtf2h4	UTSW	17	35,981,792 (GRCm39)	missense	possibly damaging	0.51
R6356:Gtf2h4	UTSW	17	35,980,647 (GRCm39)	missense	probably damaging	0.99
R7323:Gtf2h4	UTSW	17	35,980,857 (GRCm39)	missense	probably damaging	0.99
R7426:Gtf2h4	UTSW	17	35,980,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCGAATCTGGTCTGTTATGG -3'
(R):5'- TTCAGTGACATTAGCTCAGATGAC -3'

Sequencing Primer
(F):5'- AATCTGGTCTGTTATGGTGGGG -3'
(R):5'- GACATTAGCTCAGATGACTTTCTAC -3'

Posted On

2014-10-16