Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02309:Gtf2h1'

287758

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 #

IGL02309

Quality Score

Status

Chromosome

Chromosomal Location

46445527-46473224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46465812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 421 (L421P)

Ref Sequence

ENSEMBL: ENSMUSP00000006774 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006774
AA Change: L421P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: L421P

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 damaging
Transcript: ENSMUST00000107644
AA Change: L427P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: L427P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,193,125 (GRCm39)	F111S	probably benign	Het
Afg1l	C	A	10: 42,330,374 (GRCm39)	V98F	possibly damaging	Het
Agk	T	A	6: 40,353,210 (GRCm39)	D191E	possibly damaging	Het
Akap5	A	G	12: 76,375,629 (GRCm39)	K354E	possibly damaging	Het
Aplp2	A	T	9: 31,078,979 (GRCm39)	M323K	possibly damaging	Het
Arhgap23	T	C	11: 97,356,827 (GRCm39)		probably benign	Het
Asl	A	G	5: 130,048,622 (GRCm39)	Y30H	probably damaging	Het
Asxl3	T	A	18: 22,655,510 (GRCm39)	H1173Q	probably benign	Het
Celsr2	C	T	3: 108,303,327 (GRCm39)	R2472H	probably damaging	Het
Clip1	T	A	5: 123,755,763 (GRCm39)	H950L	probably damaging	Het
Cx3cl1	A	T	8: 95,506,660 (GRCm39)	T222S	probably benign	Het
Cyp4a14	T	A	4: 115,348,829 (GRCm39)	N273Y	probably damaging	Het
Ddx52	T	A	11: 83,839,304 (GRCm39)	S214T	probably damaging	Het
Dennd2d	T	A	3: 106,402,284 (GRCm39)	M318K	probably benign	Het
Dock3	A	T	9: 106,790,351 (GRCm39)	D1E	probably damaging	Het
Farp1	C	T	14: 121,480,928 (GRCm39)	T443I	probably benign	Het
Gm2381	C	T	7: 42,472,033 (GRCm39)		probably benign	Het
Gpr87	T	A	3: 59,086,975 (GRCm39)	I178F	possibly damaging	Het
Grin2b	C	T	6: 135,713,470 (GRCm39)	E804K	probably damaging	Het
Haghl	T	G	17: 26,003,638 (GRCm39)	H56P	probably damaging	Het
Heatr3	T	C	8: 88,893,700 (GRCm39)	L489P	probably damaging	Het
Ighv6-6	A	T	12: 114,398,534 (GRCm39)	H77Q	probably benign	Het
Kdm2b	A	G	5: 123,085,883 (GRCm39)	S243P	probably damaging	Het
Lamc3	T	C	2: 31,804,616 (GRCm39)		probably benign	Het
Lgr4	T	C	2: 109,842,880 (GRCm39)		probably benign	Het
Lhx3	T	C	2: 26,091,385 (GRCm39)	Q308R	probably benign	Het
Lonp2	G	A	8: 87,361,491 (GRCm39)	E223K	probably damaging	Het
Lta4h	T	C	10: 93,310,352 (GRCm39)	F407L	probably damaging	Het
Mndal	C	T	1: 173,702,021 (GRCm39)	G94R	probably damaging	Het
Nrxn3	A	G	12: 89,943,175 (GRCm39)	N101S	probably damaging	Het
Or14c41	T	C	7: 86,234,705 (GRCm39)	V74A	possibly damaging	Het
Or51af1	A	T	7: 103,141,206 (GRCm39)	I293K	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8b48	A	G	9: 38,492,729 (GRCm39)	N52S	probably damaging	Het
Or8d23	A	G	9: 38,842,348 (GRCm39)	N294D	probably damaging	Het
Pknox1	T	G	17: 31,809,683 (GRCm39)	F96V	probably benign	Het
Psg25	T	G	7: 18,260,349 (GRCm39)	Q183P	probably damaging	Het
Ptgs2	A	G	1: 149,981,307 (GRCm39)	Y530C	probably damaging	Het
Sema3e	T	A	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Shank1	G	A	7: 43,962,266 (GRCm39)	G46R	unknown	Het
Sidt1	T	C	16: 44,075,343 (GRCm39)	I672V	probably benign	Het
Skic3	A	G	13: 76,275,166 (GRCm39)	T238A	possibly damaging	Het
Slco1b2	T	A	6: 141,618,007 (GRCm39)	S486T	probably damaging	Het
Smchd1	T	C	17: 71,750,898 (GRCm39)	H340R	probably benign	Het
Smoc2	C	A	17: 14,595,789 (GRCm39)		probably benign	Het
Snapc1	A	G	12: 74,014,801 (GRCm39)	Y102C	probably damaging	Het
Spo11	A	G	2: 172,821,744 (GRCm39)	R20G	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Tmem229b-ps	T	C	10: 53,351,466 (GRCm39)		noncoding transcript	Het
Trim12c	T	A	7: 103,994,163 (GRCm39)	E230D	possibly damaging	Het
Ttc17	G	T	2: 94,173,006 (GRCm39)	N796K	probably benign	Het
Ttn	A	G	2: 76,709,443 (GRCm39)		probably benign	Het
Ublcp1	A	T	11: 44,349,155 (GRCm39)		probably benign	Het
Usf3	C	T	16: 44,021,026 (GRCm39)	T11M	probably benign	Het
Vmn2r115	T	A	17: 23,564,113 (GRCm39)	M95K	probably benign	Het
Wapl	A	G	14: 34,466,820 (GRCm39)	T1160A	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
IGL02423:Gtf2h1	APN	7	46,464,824 (GRCm39)	missense	probably benign
IGL02481:Gtf2h1	APN	7	46,454,417 (GRCm39)	missense	probably damaging	1.00
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