Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Gtf2h1'

514326

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h1

Ensembl Gene

ENSMUSG00000006599

Gene Name

general transcription factor II H, polypeptide 1

Synonyms

p62, 62kDa

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46796103-46823800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46816456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 450 (T450A)

Ref Sequence

ENSEMBL: ENSMUSP00000103271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006774
AA Change: T444A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: T444A

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

probably benign
Transcript: ENSMUST00000107644
AA Change: T450A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: T450A

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

noncoding transcript
Transcript: ENSMUST00000119337

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

noncoding transcript
Transcript: ENSMUST00000144708

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	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
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
R9545:Gtf2h1	UTSW	7	46808688	critical splice donor site	probably null
R9602:Gtf2h1	UTSW	7	46806795	missense	possibly damaging	0.93
RF021:Gtf2h1	UTSW	7	46803865	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AAATGTCGTTCATTCTGGTTGC -3'
(R):5'- ACCACTCCAGGTGCTGAATG -3'

Sequencing Primer
(F):5'- CATTCTGGTTGCTGTGCATAG -3'
(R):5'- TGGATACAGACGCTTACTGC -3'

Posted On

2018-04-27