Mutagenetix > Incidental Mutations

Incidental Mutation 'RF021:Gtf2h1'

603882

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h1

Ensembl Gene

ENSMUSG00000006599

Gene Name

general transcription factor II H, polypeptide 1

Synonyms

p62, 62kDa

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

RF021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46796103-46823800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46803865 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 74 (V74G)

Ref Sequence

ENSEMBL: ENSMUSP00000103271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006774] [ENSMUST00000107644] [ENSMUST00000128420] [ENSMUST00000165031]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006774
AA Change: V68G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: V68G

Domain	Start	End	E-Value	Type
Pfam:TFIIH_BTF_p62_N	9	81	6.8e-25	PFAM
BSD	99	154	8.89e-11	SMART
BSD	179	231	2.09e-16	SMART
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107644
AA Change: V74G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: V74G

Domain	Start	End	E-Value	Type
Pfam:PH_TFIIH	22	103	8.5e-29	PFAM
BSD	105	160	8.89e-11	SMART
BSD	185	237	2.09e-16	SMART
low complexity region	423	440	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128420

SMART Domains

Protein: ENSMUSP00000120008
Gene: ENSMUSG00000006599

Domain	Start	End	E-Value	Type
Pfam:TFIIH_BTF_p62_N	9	51	1.1e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165031
AA Change: V74G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599
AA Change: V74G

Domain	Start	End	E-Value	Type
Pfam:TFIIH_BTF_p62_N	15	87	5.5e-26	PFAM
Pfam:BSD	104	144	8.1e-8	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773		probably benign	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106		probably benign	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Ttbk2	A	G	2: 120,748,634	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly damaging	Het

Other mutations in Gtf2h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Gtf2h1	APN	7	46819210	missense	possibly damaging	0.90
IGL01108:Gtf2h1	APN	7	46812498	missense	probably damaging	1.00
IGL02054:Gtf2h1	APN	7	46815425	splice site	probably benign
IGL02075:Gtf2h1	APN	7	46801741	missense	probably damaging	1.00
IGL02309:Gtf2h1	APN	7	46816388	missense	probably damaging	0.99
IGL02423:Gtf2h1	APN	7	46815400	missense	probably benign
IGL02481:Gtf2h1	APN	7	46804993	missense	probably damaging	1.00
IGL03159:Gtf2h1	APN	7	46806743	missense	possibly damaging	0.80
R0136:Gtf2h1	UTSW	7	46815416	missense	possibly damaging	0.49
R1073:Gtf2h1	UTSW	7	46816944	missense	probably damaging	1.00
R1242:Gtf2h1	UTSW	7	46812751	critical splice donor site	probably null
R1469:Gtf2h1	UTSW	7	46805125	critical splice donor site	probably null
R1469:Gtf2h1	UTSW	7	46805125	critical splice donor site	probably null
R1740:Gtf2h1	UTSW	7	46812466	missense	probably null
R2192:Gtf2h1	UTSW	7	46815323	missense	possibly damaging	0.73
R3012:Gtf2h1	UTSW	7	46803895	missense	probably damaging	1.00
R4238:Gtf2h1	UTSW	7	46805065	missense	probably benign
R4239:Gtf2h1	UTSW	7	46805065	missense	probably benign
R4715:Gtf2h1	UTSW	7	46815412	missense	possibly damaging	0.66
R4776:Gtf2h1	UTSW	7	46822878	nonsense	probably null
R6193:Gtf2h1	UTSW	7	46806830	critical splice donor site	probably null
R6338:Gtf2h1	UTSW	7	46816456	missense	probably benign
R6556:Gtf2h1	UTSW	7	46808665	missense	probably damaging	1.00
R7102:Gtf2h1	UTSW	7	46819126	missense	probably benign	0.21
R8232:Gtf2h1	UTSW	7	46801679	missense	probably benign	0.02
R8273:Gtf2h1	UTSW	7	46805050	missense	probably benign	0.00
R8414:Gtf2h1	UTSW	7	46815344	missense	possibly damaging	0.83
R9006:Gtf2h1	UTSW	7	46808838	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGGTGCCATGCGTGTATATG -3'
(R):5'- ATGGCAATGACAGCACAGATC -3'

Sequencing Primer
(F):5'- CTCCAGGATTCCAGGTTAGGCTTAAG -3'
(R):5'- AGATCCCCACTCTCACCTG -3'

Posted On

2019-12-04