Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02481:Gtf2h1'

295206

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2h1

Ensembl Gene

ENSMUSG00000006599

Gene Name

general transcription factor II H, polypeptide 1

Synonyms

p62, 62kDa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

46445527-46473224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46454417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 133 (L133P)

Ref Sequence

ENSEMBL: ENSMUSP00000129337 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006774
AA Change: L127P

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: L127P

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: L133P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: L133P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165031
AA Change: L133P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599
AA Change: L133P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,223,854 (GRCm39)	V117I	probably benign	Het
Cdkl2	A	T	5: 92,185,130 (GRCm39)	I87N	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Clca3a2	G	A	3: 144,790,701 (GRCm39)	S457L	possibly damaging	Het
Crim1	C	T	17: 78,658,227 (GRCm39)	T702I	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dspp	A	G	5: 104,323,514 (GRCm39)	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,795,914 (GRCm39)		probably benign	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868 (GRCm39)	Y873H	probably damaging	Het
Gsr	T	C	8: 34,175,569 (GRCm39)		probably benign	Het
Ifna5	A	C	4: 88,754,327 (GRCm39)	E189A	probably benign	Het
Irx5	A	G	8: 93,087,307 (GRCm39)	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,779,727 (GRCm39)	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kif19a	A	G	11: 114,679,979 (GRCm39)	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Krt78	C	A	15: 101,856,853 (GRCm39)		probably benign	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Mcm9	A	G	10: 53,502,033 (GRCm39)	I184T	probably damaging	Het
Mlycd	G	A	8: 120,137,073 (GRCm39)	R431H	probably damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Myof	G	T	19: 37,926,361 (GRCm39)	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Nnat	T	C	2: 157,403,167 (GRCm39)	F36S	possibly damaging	Het
Nsd3	C	A	8: 26,181,143 (GRCm39)	P915T	probably damaging	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or10k2	A	C	8: 84,268,015 (GRCm39)	M81L	possibly damaging	Het
Or1n1	A	T	2: 36,749,830 (GRCm39)	C177S	probably damaging	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4l1	G	A	14: 50,166,164 (GRCm39)	T279I	probably damaging	Het
Pkd1l3	A	G	8: 110,341,414 (GRCm39)	N89S	unknown	Het
Pkd2	T	C	5: 104,634,636 (GRCm39)	F556L	probably damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Ralgps1	G	A	2: 33,230,741 (GRCm39)	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Slc47a2	A	G	11: 61,227,067 (GRCm39)	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,432,112 (GRCm39)	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het
Zfhx4	G	A	3: 5,476,903 (GRCm39)	E3148K	probably damaging	Het

Other mutations in Gtf2h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Gtf2h1	APN	7	46,468,634 (GRCm39)	missense	possibly damaging	0.90
IGL01108:Gtf2h1	APN	7	46,461,922 (GRCm39)	missense	probably damaging	1.00
IGL02054:Gtf2h1	APN	7	46,464,849 (GRCm39)	splice site	probably benign
IGL02075:Gtf2h1	APN	7	46,451,165 (GRCm39)	missense	probably damaging	1.00
IGL02309:Gtf2h1	APN	7	46,465,812 (GRCm39)	missense	probably damaging	0.99
IGL02423:Gtf2h1	APN	7	46,464,824 (GRCm39)	missense	probably benign
IGL03159:Gtf2h1	APN	7	46,456,167 (GRCm39)	missense	possibly damaging	0.80
R0136:Gtf2h1	UTSW	7	46,464,840 (GRCm39)	missense	possibly damaging	0.49
R1073:Gtf2h1	UTSW	7	46,466,368 (GRCm39)	missense	probably damaging	1.00
R1242:Gtf2h1	UTSW	7	46,462,175 (GRCm39)	critical splice donor site	probably null
R1469:Gtf2h1	UTSW	7	46,454,549 (GRCm39)	critical splice donor site	probably null
R1469:Gtf2h1	UTSW	7	46,454,549 (GRCm39)	critical splice donor site	probably null
R1740:Gtf2h1	UTSW	7	46,461,890 (GRCm39)	missense	probably null
R2192:Gtf2h1	UTSW	7	46,464,747 (GRCm39)	missense	possibly damaging	0.73
R3012:Gtf2h1	UTSW	7	46,453,319 (GRCm39)	missense	probably damaging	1.00
R4238:Gtf2h1	UTSW	7	46,454,489 (GRCm39)	missense	probably benign
R4239:Gtf2h1	UTSW	7	46,454,489 (GRCm39)	missense	probably benign
R4715:Gtf2h1	UTSW	7	46,464,836 (GRCm39)	missense	possibly damaging	0.66
R4776:Gtf2h1	UTSW	7	46,472,302 (GRCm39)	nonsense	probably null
R6193:Gtf2h1	UTSW	7	46,456,254 (GRCm39)	critical splice donor site	probably null
R6338:Gtf2h1	UTSW	7	46,465,880 (GRCm39)	missense	probably benign
R6556:Gtf2h1	UTSW	7	46,458,089 (GRCm39)	missense	probably damaging	1.00
R7102:Gtf2h1	UTSW	7	46,468,550 (GRCm39)	missense	probably benign	0.21
R8232:Gtf2h1	UTSW	7	46,451,103 (GRCm39)	missense	probably benign	0.02
R8273:Gtf2h1	UTSW	7	46,454,474 (GRCm39)	missense	probably benign	0.00
R8414:Gtf2h1	UTSW	7	46,464,768 (GRCm39)	missense	possibly damaging	0.83
R9006:Gtf2h1	UTSW	7	46,458,262 (GRCm39)	missense	probably benign	0.00
R9545:Gtf2h1	UTSW	7	46,458,112 (GRCm39)	critical splice donor site	probably null
R9602:Gtf2h1	UTSW	7	46,456,219 (GRCm39)	missense	possibly damaging	0.93
RF021:Gtf2h1	UTSW	7	46,453,289 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16