Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Gtf2h1'

353946

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h1

Ensembl Gene

ENSMUSG00000006599

Gene Name

general transcription factor II H, polypeptide 1

Synonyms

p62, 62kDa

MMRRC Submission

041982-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46796103-46823800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46815412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 424 (T424A)

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: T418A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: T418A

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: T424A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: T424A

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

noncoding transcript
Transcript: ENSMUST00000144708

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,816,882	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,398,876	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,774,653	R179*	probably null	Het
Arap2	G	T	5: 62,749,094	T194K	probably benign	Het
Atf2	C	A	2: 73,823,300	V282F	probably damaging	Het
Atp1a1	T	C	3: 101,591,806	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,877,179	S258G	possibly damaging	Het
Bptf	G	T	11: 107,047,181	H2695N	probably damaging	Het
Casq2	T	C	3: 102,110,244	V80A	probably benign	Het
Ccdc130	A	G	8: 84,263,874	I43T	probably damaging	Het
Cdc42ep3	G	A	17: 79,335,458	A11V	probably benign	Het
Cdh4	A	T	2: 179,780,467	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,361,835	*191L	probably null	Het
Cfdp1	G	A	8: 111,830,891	T206I	probably benign	Het
Cgn	C	A	3: 94,779,438	G185W	probably damaging	Het
Clpx	A	C	9: 65,312,114	R231S	possibly damaging	Het
Copg1	T	A	6: 87,912,286	L870*	probably null	Het
Cyp4a10	A	T	4: 115,525,338	D275V	probably benign	Het
Dip2a	T	C	10: 76,296,406	T504A	probably benign	Het
Dmxl2	A	C	9: 54,446,405		probably null	Het
Dnaaf5	A	T	5: 139,178,000	I671F	probably damaging	Het
Dnah14	A	G	1: 181,757,223	D3173G	probably damaging	Het
Dock2	T	C	11: 34,294,118	Y1074C	probably damaging	Het
Dthd1	A	C	5: 62,888,187	M765L	probably benign	Het
E2f3	A	C	13: 29,911,275	C220W	probably damaging	Het
Elf3	C	T	1: 135,257,752	S8N	probably damaging	Het
F2rl1	A	T	13: 95,513,267	V369E	probably damaging	Het
Fam214a	T	A	9: 75,012,968	W799R	probably damaging	Het
Fpr-rs7	C	T	17: 20,113,428	G267R	probably benign	Het
Ggact	A	T	14: 122,891,635	L56Q	possibly damaging	Het
Gm10698	A	T	9: 33,728,488		noncoding transcript	Het
Gm5546	T	C	3: 104,366,508		noncoding transcript	Het
Gm8267	A	G	14: 44,717,835	V243A	probably benign	Het
Gucy1b2	A	G	14: 62,423,017	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,770,844	L146P	probably damaging	Het
Htr1b	T	C	9: 81,631,510	D348G	possibly damaging	Het
Ifi205	T	C	1: 174,028,321	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,992,591	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,706,253	L169P	probably damaging	Het
Klf17	T	C	4: 117,760,536	D208G	probably benign	Het
Ltn1	A	G	16: 87,418,494	F418L	probably damaging	Het
Map4k4	G	A	1: 40,019,564	V1040I	probably damaging	Het
Mark1	A	G	1: 184,912,132	V445A	probably benign	Het
Med11	T	C	11: 70,453,196	I114T	probably benign	Het
Moxd2	A	G	6: 40,887,247	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,616,358		probably benign	Het
Mrps27	A	G	13: 99,414,815		probably null	Het
Nop58	T	C	1: 59,696,026	V75A	probably benign	Het
Olfr1290	A	C	2: 111,489,744	M138R	probably benign	Het
Olfr1339	T	C	4: 118,734,655	L42P	probably damaging	Het
Olfr136	A	C	17: 38,335,840	I228L	possibly damaging	Het
Olfr325	A	G	11: 58,581,429	D195G	probably damaging	Het
Olfr832	A	G	9: 18,945,446	H266R	probably benign	Het
Olfr844	C	A	9: 19,319,147	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,516	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,126,061		probably benign	Het
Prkd3	G	T	17: 78,951,937	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,107,333	T543A	probably benign	Het
Pum2	T	A	12: 8,747,272	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,693,458	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,794,039	L193P	probably damaging	Het
Rif1	T	C	2: 52,073,139		probably benign	Het
Rspo2	A	T	15: 43,075,904	C163*	probably null	Het
Sco1	A	G	11: 67,056,599	Y204C	probably damaging	Het
Shc2	T	C	10: 79,622,379	K490R	probably benign	Het
Siglec1	T	C	2: 131,074,436	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,786,090	V31A	probably damaging	Het
Smpd5	A	T	15: 76,295,693	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198		probably null	Het
Tdrd9	T	G	12: 112,041,689	S988A	probably benign	Het
Tiam2	T	A	17: 3,454,168	F982I	probably damaging	Het
Tmc3	G	A	7: 83,622,396	V919I	probably benign	Het
Tmem200c	A	T	17: 68,840,470	D16V	probably damaging	Het
Tmem37	A	T	1: 120,068,205	D47E	probably damaging	Het
Top3a	T	A	11: 60,742,997	R733*	probably null	Het
Treh	T	C	9: 44,683,318	V8A	probably benign	Het
Trim17	A	C	11: 58,968,450		probably benign	Het
Ubash3b	T	C	9: 41,016,600	K471E	probably damaging	Het
Usp8	T	A	2: 126,729,222	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,147,232	M1L	unknown	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
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
R9545:Gtf2h1	UTSW	7	46808688	critical splice donor site	probably null
RF021:Gtf2h1	UTSW	7	46803865	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GCTGTAAGGGAATGTTTTGTTGATAC -3'
(R):5'- GCAACTACTTACATACAGCTCCT -3'

Sequencing Primer
(F):5'- TCTGTGCTGATACCTAGG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2015-10-21