Mutagenetix > Incidental Mutation

Incidental Mutation 'R4810:Gtf2h2'

371029

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h2

Ensembl Gene

ENSMUSG00000021639

Gene Name

general transcription factor II H, polypeptide 2

Synonyms

Btf2p44, 44kDa, basal transcription factor 2, p44 subunit, p44

MMRRC Submission

042429-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100596726-100629087 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 100617510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066940] [ENSMUST00000066984] [ENSMUST00000066984] [ENSMUST00000134842] [ENSMUST00000145266]

AlphaFold

Q9JIB4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000066940

SMART Domains

Protein: ENSMUSP00000064590
Gene: ENSMUSG00000021639

Domain	Start	End	E-Value	Type
Pfam:VWA_2	60	166	5e-9	PFAM
Pfam:Ssl1	64	166	1.1e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000066984

SMART Domains

Protein: ENSMUSP00000065228
Gene: ENSMUSG00000021639

Domain	Start	End	E-Value	Type
VWA	58	240	1.02e-14	SMART
Blast:BIR	291	310	6e-7	BLAST
C1_4	345	388	3.13e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000066984

SMART Domains

Protein: ENSMUSP00000065228
Gene: ENSMUSG00000021639

Domain	Start	End	E-Value	Type
VWA	58	240	1.02e-14	SMART
Blast:BIR	291	310	6e-7	BLAST
C1_4	345	388	3.13e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124698

Predicted Effect

probably benign
Transcript: ENSMUST00000134842

SMART Domains

Protein: ENSMUSP00000138748
Gene: ENSMUSG00000021639

Domain	Start	End	E-Value	Type
Pfam:Ssl1	64	139	2.4e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142182

Predicted Effect

probably benign
Transcript: ENSMUST00000145266

SMART Domains

Protein: ENSMUSP00000138108
Gene: ENSMUSG00000021639

Domain	Start	End	E-Value	Type
VWA	58	240	1.02e-14	SMART
Blast:BIR	291	310	6e-7	BLAST
C1_4	345	388	3.13e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232450

Meta Mutation Damage Score

0.9505

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,216 (GRCm39)	V1189A	possibly damaging	Het
A3galt2	T	C	4: 128,649,356 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,342,771 (GRCm39)	D903G	probably benign	Het
Abcc12	T	C	8: 87,287,471 (GRCm39)	M125V	probably damaging	Het
Adad1	A	G	3: 37,146,183 (GRCm39)	N517S	probably damaging	Het
Ankrd44	A	G	1: 54,774,302 (GRCm39)		probably benign	Het
Armc7	A	G	11: 115,379,787 (GRCm39)	I162V	probably benign	Het
Art3	T	A	5: 92,562,108 (GRCm39)	V343D	possibly damaging	Het
Bcl9l	A	G	9: 44,419,650 (GRCm39)	T1106A	probably damaging	Het
Ccdc141	T	C	2: 76,876,099 (GRCm39)	N644D	possibly damaging	Het
Ccdc154	T	C	17: 25,382,472 (GRCm39)	L98S	probably damaging	Het
Ccne1	A	G	7: 37,799,018 (GRCm39)	W237R	probably damaging	Het
Cd33	T	C	7: 43,182,134 (GRCm39)	I104V	probably damaging	Het
Ceacam1	A	T	7: 25,173,945 (GRCm39)	*237K	probably null	Het
Ces1e	T	A	8: 93,935,259 (GRCm39)	I398F	probably benign	Het
Cfap44	T	C	16: 44,271,898 (GRCm39)	I1217T	probably damaging	Het
Clns1a	T	C	7: 97,363,224 (GRCm39)	S199P	probably benign	Het
Cntn4	C	A	6: 106,632,572 (GRCm39)	T532K	probably benign	Het
Col11a2	C	T	17: 34,276,086 (GRCm39)	S470L	probably damaging	Het
Cst5	A	T	2: 149,247,463 (GRCm39)	R60*	probably null	Het
Cxcr6	A	T	9: 123,639,227 (GRCm39)	D83V	probably damaging	Het
Dis3l2	T	C	1: 86,975,296 (GRCm39)	V774A	probably damaging	Het
Dusp15	A	G	2: 152,787,374 (GRCm39)	L79P	probably damaging	Het
Elapor1	T	A	3: 108,377,327 (GRCm39)		probably benign	Het
Eml6	A	T	11: 29,705,011 (GRCm39)	V1511E	possibly damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Fam227b	A	G	2: 125,829,859 (GRCm39)	F450L	probably benign	Het
Fam91a1	T	A	15: 58,306,589 (GRCm39)	L452Q	probably damaging	Het
Fbxo44	T	C	4: 148,240,903 (GRCm39)	Y199C	probably damaging	Het
Fgd3	A	G	13: 49,443,126 (GRCm39)	S149P	probably benign	Het
Gabra4	T	C	5: 71,781,325 (GRCm39)	E362G	probably damaging	Het
Galnt14	T	C	17: 73,819,116 (GRCm39)	I325V	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm10088	G	T	16: 18,847,081 (GRCm39)		noncoding transcript	Het
Grik5	T	C	7: 24,714,922 (GRCm39)	N691D	probably damaging	Het
Grm1	C	G	10: 10,658,438 (GRCm39)	D351H	probably damaging	Het
Grm8	T	C	6: 27,761,295 (GRCm39)	S310G	possibly damaging	Het
Hhex	G	T	19: 37,428,103 (GRCm39)	L49F	probably damaging	Het
Hkdc1	T	A	10: 62,247,304 (GRCm39)	R159S	probably benign	Het
Iqcm	A	G	8: 76,615,281 (GRCm39)	Y454C	probably damaging	Het
Kcnh8	G	A	17: 53,212,248 (GRCm39)		probably null	Het
Larp4b	A	G	13: 9,208,627 (GRCm39)	T427A	probably benign	Het
Mtmr3	A	T	11: 4,448,046 (GRCm39)	N297K	probably benign	Het
Nek8	G	A	11: 78,058,629 (GRCm39)	T557I	probably benign	Het
Nlrp9c	A	C	7: 26,077,602 (GRCm39)		probably null	Het
Nmrk1	T	A	19: 18,617,273 (GRCm39)	D48E	probably benign	Het
Npepps	G	A	11: 97,131,759 (GRCm39)	T365I	probably damaging	Het
Obscn	G	A	11: 58,922,417 (GRCm39)	T5921M	possibly damaging	Het
Or8b44	C	A	9: 38,410,620 (GRCm39)	Y218*	probably null	Het
Or8c9	A	G	9: 38,241,690 (GRCm39)	E269G	probably benign	Het
Otud7b	C	T	3: 96,043,918 (GRCm39)	A23V	probably damaging	Het
Pcdhga9	G	A	18: 37,871,601 (GRCm39)	A477T	possibly damaging	Het
Plekha7	A	T	7: 115,744,173 (GRCm39)	I663N	probably damaging	Het
Plscr1l1	A	G	9: 92,236,683 (GRCm39)	D190G	probably damaging	Het
Polk	A	T	13: 96,620,003 (GRCm39)	S732R	possibly damaging	Het
Ppfia2	A	G	10: 106,751,551 (GRCm39)	I1166V	probably benign	Het
Ppp2r5a	C	T	1: 191,088,589 (GRCm39)		probably benign	Het
Prkaa2	T	C	4: 104,897,011 (GRCm39)	K401E	probably damaging	Het
Ptpn23	A	G	9: 110,218,204 (GRCm39)	Y611H	possibly damaging	Het
Rab31	C	T	17: 66,028,998 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,507,406 (GRCm39)	C443S	probably damaging	Het
Ralgapa1	A	G	12: 55,841,778 (GRCm39)		probably null	Het
Rev3l	T	C	10: 39,699,721 (GRCm39)	L1406P	probably benign	Het
Rnaset2b	T	A	17: 7,259,167 (GRCm39)	D48E	probably benign	Het
Rnf13	G	T	3: 57,703,693 (GRCm39)	M105I	probably damaging	Het
Rnf150	T	C	8: 83,716,991 (GRCm39)	V166A	possibly damaging	Het
Rps6kc1	C	A	1: 190,541,160 (GRCm39)	R381L	probably damaging	Het
Rspo2	C	T	15: 43,033,216 (GRCm39)	R2H	probably benign	Het
Septin8	A	G	11: 53,425,416 (GRCm39)	D103G	probably damaging	Het
Sirt4	A	G	5: 115,618,508 (GRCm39)	W189R	probably damaging	Het
Slco6d1	T	C	1: 98,350,979 (GRCm39)	V110A	possibly damaging	Het
Sncaip	C	A	18: 53,040,271 (GRCm39)	Q822K	possibly damaging	Het
Spg11	A	C	2: 121,890,277 (GRCm39)	F2070V	probably damaging	Het
Sptb	A	T	12: 76,669,971 (GRCm39)	Y452*	probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tead1	C	A	7: 112,441,073 (GRCm39)		probably null	Het
Tmem156	G	T	5: 65,248,790 (GRCm39)		probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem260	A	G	14: 48,709,930 (GRCm39)	E51G	probably damaging	Het
Trim36	G	T	18: 46,305,536 (GRCm39)	N470K	probably benign	Het
Trps1	T	A	15: 50,685,692 (GRCm39)	T158S	probably benign	Het
Ube2c	A	G	2: 164,614,482 (GRCm39)	*180W	probably null	Het
Ube2i	T	C	17: 25,484,121 (GRCm39)	D45G	probably benign	Het
Uggt2	A	C	14: 119,250,933 (GRCm39)	L1188R	probably damaging	Het
Uroc1	T	C	6: 90,340,135 (GRCm39)	I680T	probably damaging	Het
Vmn2r2	T	A	3: 64,044,883 (GRCm39)	M88L	probably damaging	Het
Zfp248	G	A	6: 118,406,807 (GRCm39)	R261C	possibly damaging	Het
Zfp418	G	T	7: 7,185,846 (GRCm39)	R603L	possibly damaging	Het
Zmpste24	T	A	4: 120,918,251 (GRCm39)	Y457F	probably damaging	Het

Other mutations in Gtf2h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Gtf2h2	APN	13	100,617,506 (GRCm39)	unclassified	probably benign
IGL00780:Gtf2h2	APN	13	100,615,729 (GRCm39)	missense	probably benign	0.01
IGL01475:Gtf2h2	APN	13	100,617,541 (GRCm39)	missense	probably damaging	1.00
IGL02298:Gtf2h2	APN	13	100,617,547 (GRCm39)	missense	probably damaging	1.00
IGL02754:Gtf2h2	APN	13	100,617,747 (GRCm39)	missense	probably damaging	1.00
R0602:Gtf2h2	UTSW	13	100,605,533 (GRCm39)	missense	probably benign	0.03
R0621:Gtf2h2	UTSW	13	100,625,433 (GRCm39)	missense	probably damaging	1.00
R0665:Gtf2h2	UTSW	13	100,617,562 (GRCm39)	missense	probably damaging	1.00
R4709:Gtf2h2	UTSW	13	100,605,523 (GRCm39)	nonsense	probably null
R5262:Gtf2h2	UTSW	13	100,618,356 (GRCm39)	unclassified	probably benign
R5548:Gtf2h2	UTSW	13	100,617,544 (GRCm39)	missense	possibly damaging	0.92
R5741:Gtf2h2	UTSW	13	100,617,066 (GRCm39)	missense	probably benign	0.00
R6802:Gtf2h2	UTSW	13	100,617,051 (GRCm39)	missense	probably benign	0.39
R7256:Gtf2h2	UTSW	13	100,615,709 (GRCm39)	missense	probably benign	0.05
R8355:Gtf2h2	UTSW	13	100,605,503 (GRCm39)	missense	possibly damaging	0.89
R9139:Gtf2h2	UTSW	13	100,617,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGCTTCTGTGTAAAACCTACC -3'
(R):5'- GGCTAGACTCTATAGCACTAGC -3'

Sequencing Primer
(F):5'- TCTGTGTAAAACCTACCAAAGTTTC -3'
(R):5'- TGAAGACCCTGAAGACAG -3'

Posted On

2016-02-04