Mutagenetix > Incidental Mutation

Incidental Mutation 'R2357:Gtf2h4'

247476

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h4

Ensembl Gene

ENSMUSG00000001524

Gene Name

general transcription factor II H, polypeptide 4

Synonyms

p52

MMRRC Submission

040339-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R2357 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

35978624-35984607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35978891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 408 (V408D)

Ref Sequence

ENSEMBL: ENSMUSP00000124335 (fasta)

Gene Model

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

AlphaFold

O70422

Predicted Effect

probably damaging
Transcript: ENSMUST00000001565
AA Change: V408D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001565
Gene: ENSMUSG00000001524
AA Change: V408D

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 damaging
Transcript: ENSMUST00000160734
AA Change: V408D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124335
Gene: ENSMUSG00000001524
AA Change: V408D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165787

Predicted Effect

probably benign
Transcript: ENSMUST00000168922

SMART Domains

Protein: ENSMUSP00000129196
Gene: ENSMUSG00000038838

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	2	386	3e-105	PFAM
Pfam:Anticodon_1	430	566	8.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164404

SMART Domains

Protein: ENSMUSP00000126084
Gene: ENSMUSG00000038838

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	1	201	1e-49	PFAM
Pfam:tRNA-synt_1g	68	172	4e-7	PFAM

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

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

Meta Mutation Damage Score

0.9245

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,569,844 (GRCm39)	T520K	possibly damaging	Het
Abca13	T	C	11: 9,247,336 (GRCm39)	L2361P	probably damaging	Het
Acsl6	T	A	11: 54,218,106 (GRCm39)	M248K	probably damaging	Het
Adam11	G	T	11: 102,665,334 (GRCm39)	V467L	probably benign	Het
Afap1	C	T	5: 36,141,618 (GRCm39)	H501Y	probably damaging	Het
Ankrd28	A	T	14: 31,486,251 (GRCm39)	Y22*	probably null	Het
Ccdc124	A	T	8: 71,321,179 (GRCm39)	L187Q	probably damaging	Het
Cdc42bpa	G	A	1: 179,894,792 (GRCm39)	S324N	possibly damaging	Het
Cgnl1	T	A	9: 71,632,950 (GRCm39)	K134*	probably null	Het
Cnpy3	G	T	17: 47,062,909 (GRCm39)	S47R	probably damaging	Het
Cpne8	A	T	15: 90,503,877 (GRCm39)	L96Q	probably damaging	Het
Crisp3	A	T	17: 40,533,396 (GRCm39)	Y212N	probably damaging	Het
Cryba1	A	T	11: 77,613,427 (GRCm39)		probably benign	Het
Cyc1	A	G	15: 76,229,766 (GRCm39)	M288V	possibly damaging	Het
Dnah8	T	A	17: 30,990,846 (GRCm39)	D3296E	probably benign	Het
Dnah8	A	G	17: 31,093,909 (GRCm39)	T4668A	probably benign	Het
Dnajb6	T	A	5: 29,958,638 (GRCm39)	F113I	probably damaging	Het
Dync2h1	A	G	9: 7,081,053 (GRCm39)	I2881T	probably benign	Het
Eps8l1	T	C	7: 4,473,354 (GRCm39)	S179P	probably benign	Het
Esco2	C	A	14: 66,064,000 (GRCm39)	A395S	probably benign	Het
Evi5l	T	C	8: 4,243,113 (GRCm39)		probably benign	Het
Exoc6b	T	C	6: 84,966,321 (GRCm39)	T218A	possibly damaging	Het
Gde1	A	T	7: 118,290,814 (GRCm39)	F170L	probably benign	Het
Ggt5	A	C	10: 75,445,075 (GRCm39)	I361L	probably benign	Het
Golga3	C	T	5: 110,350,514 (GRCm39)	T683M	probably damaging	Het
Golgb1	A	G	16: 36,732,370 (GRCm39)	Q539R	probably damaging	Het
Grm2	A	G	9: 106,524,780 (GRCm39)	V645A	probably damaging	Het
Gucy1a2	A	T	9: 3,797,299 (GRCm39)	H583L	probably damaging	Het
Hivep2	C	T	10: 14,019,043 (GRCm39)	A1938V	probably benign	Het
Iars1	T	C	13: 49,841,679 (GRCm39)	Y56H	probably damaging	Het
Il17re	A	G	6: 113,445,431 (GRCm39)	I381V	possibly damaging	Het
Klrd1	T	A	6: 129,573,872 (GRCm39)	*71K	probably null	Het
Kng1	A	T	16: 22,897,815 (GRCm39)	Y405F	possibly damaging	Het
Kptn	G	T	7: 15,859,709 (GRCm39)	C311F	probably damaging	Het
Lama5	T	C	2: 179,821,890 (GRCm39)	I2982V	probably benign	Het
Mamstr	G	T	7: 45,291,754 (GRCm39)	D35Y	probably damaging	Het
Mdc1	A	G	17: 36,158,337 (GRCm39)	D239G	probably benign	Het
Mindy3	T	G	2: 12,408,987 (GRCm39)		probably benign	Het
Mrpl39	A	T	16: 84,524,452 (GRCm39)	H204Q	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo5a	T	A	9: 75,108,647 (GRCm39)	M1476K	probably damaging	Het
Nol4	A	G	18: 23,172,967 (GRCm39)	S45P	probably benign	Het
Nol8	T	C	13: 49,807,980 (GRCm39)		probably null	Het
Or4f61	A	G	2: 111,922,743 (GRCm39)	I101T	possibly damaging	Het
Or5d18	A	T	2: 87,865,028 (GRCm39)	W152R	probably damaging	Het
Or6c207	C	A	10: 129,104,642 (GRCm39)	K183N	probably benign	Het
Or8b56	T	C	9: 38,739,634 (GRCm39)	S216P	probably benign	Het
Plau	T	A	14: 20,888,683 (GRCm39)	V100D	probably damaging	Het
Plpp7	T	C	2: 31,999,654 (GRCm39)	V6A	probably benign	Het
Prr14	T	C	7: 127,074,535 (GRCm39)	S356P	probably benign	Het
Rabl3	A	G	16: 37,362,293 (GRCm39)	D44G	probably null	Het
Rasa4	T	C	5: 136,120,101 (GRCm39)	V59A	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rictor	A	T	15: 6,813,043 (GRCm39)	N932I	probably damaging	Het
Rpl9-ps6	A	G	19: 32,443,743 (GRCm39)	V70A	probably benign	Het
S100a7l2	A	T	3: 90,995,733 (GRCm39)	S56R	probably benign	Het
St3gal1	A	G	15: 66,985,631 (GRCm39)	Y8H	probably benign	Het
Strn	G	A	17: 78,963,028 (GRCm39)	T745I	probably damaging	Het
Tbx15	C	T	3: 99,223,672 (GRCm39)		probably null	Het
Tbx20	T	A	9: 24,681,072 (GRCm39)	D140V	possibly damaging	Het
Ttn	A	C	2: 76,666,923 (GRCm39)	Y42*	probably null	Het
Usp9y	G	A	Y: 1,394,050 (GRCm39)	T560I	possibly damaging	Het
Vmn2r111	A	G	17: 22,778,151 (GRCm39)		probably benign	Het
Vps13d	GG	GGGGGG	4: 144,801,547 (GRCm39)		probably null	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp78	G	A	7: 6,382,056 (GRCm39)	G369R	probably damaging	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
R2264:Gtf2h4	UTSW	17	35,979,556 (GRCm39)	unclassified	probably benign
R2287:Gtf2h4	UTSW	17	35,982,117 (GRCm39)	critical splice donor site	probably null
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'- ATCTGAGTTGGAAAGCTGCCC -3'
(R):5'- GGCAGGGTAATTCAGTCTTCTC -3'

Sequencing Primer
(F):5'- GACCTGGCCGGCTCAGG -3'
(R):5'- GCAGGGTAATTCAGTCTTCTCTTTAG -3'

Posted On

2014-11-11