Mutagenetix > Incidental Mutation

Incidental Mutation 'R6193:Gtf2h1'

502717

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h1

Ensembl Gene

ENSMUSG00000006599

Gene Name

general transcription factor II H, polypeptide 1

Synonyms

p62, 62kDa

MMRRC Submission

044333-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6193 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46445527-46473224 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 46456254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000006774

SMART Domains

Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599

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 null
Transcript: ENSMUST00000107644

SMART Domains

Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599

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 benign
Transcript: ENSMUST00000165031

SMART Domains

Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,792,629 (GRCm39)	I106T	probably benign	Het
Aagab	A	C	9: 63,524,795 (GRCm39)	N35H	possibly damaging	Het
Abcf1	A	C	17: 36,274,464 (GRCm39)	N161K	possibly damaging	Het
Adam11	T	A	11: 102,662,087 (GRCm39)	H140Q	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,247,213 (GRCm39)	D99V	possibly damaging	Het
Arhgef28	A	G	13: 98,121,888 (GRCm39)	S559P	probably damaging	Het
Capn11	A	G	17: 45,964,430 (GRCm39)		probably null	Het
Ccdc157	T	C	11: 4,101,912 (GRCm39)	H3R	probably damaging	Het
Cd101	A	G	3: 100,927,778 (GRCm39)	L101P	probably damaging	Het
Clca3a1	A	G	3: 144,464,993 (GRCm39)	V80A	possibly damaging	Het
Cnot6	T	A	11: 49,570,850 (GRCm39)	I381F	probably benign	Het
Cntn3	T	A	6: 102,185,092 (GRCm39)	I675F	probably benign	Het
Cplx2	C	T	13: 54,527,406 (GRCm39)	P97S	probably damaging	Het
Crtac1	T	A	19: 42,312,236 (GRCm39)	E159V	possibly damaging	Het
Cyp27a1	A	G	1: 74,776,231 (GRCm39)	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,014 (GRCm39)		noncoding transcript	Het
Cyp2d9	A	G	15: 82,336,728 (GRCm39)	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,083,440 (GRCm39)	R503S	probably damaging	Het
Dclk1	A	T	3: 55,424,292 (GRCm39)		probably null	Het
Dgkq	A	T	5: 108,803,366 (GRCm39)	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679 (GRCm39)	M38K	probably benign	Het
Eif2ak4	C	T	2: 118,231,081 (GRCm39)		probably benign	Het
Ephx2	A	T	14: 66,326,961 (GRCm39)	D411E	probably benign	Het
Ephx2	T	G	14: 66,349,669 (GRCm39)	Q34P	probably benign	Het
Fer1l5	A	T	1: 36,448,517 (GRCm39)	N1092Y	probably benign	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fzd4	A	T	7: 89,057,197 (GRCm39)	K415*	probably null	Het
Gfi1	A	T	5: 107,869,397 (GRCm39)	Y278N	probably benign	Het
Gm11565	T	C	11: 99,806,070 (GRCm39)	M154T	probably benign	Het
Gm7247	A	G	14: 51,759,299 (GRCm39)	I93V	possibly damaging	Het
Golm1	T	G	13: 59,792,972 (GRCm39)	I178L	probably benign	Het
Grip1	A	T	10: 119,874,219 (GRCm39)	D302V	probably damaging	Het
Herc2	C	A	7: 55,806,649 (GRCm39)	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,298,786 (GRCm39)	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,186,445 (GRCm39)	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,407,031 (GRCm39)	Q222K	probably benign	Het
Klra6	A	T	6: 129,995,881 (GRCm39)	M159K	probably benign	Het
Lzts3	T	C	2: 130,479,306 (GRCm39)	T36A	probably damaging	Het
Mgam	T	A	6: 40,724,854 (GRCm39)	Y443*	probably null	Het
Mmp23	T	A	4: 155,735,990 (GRCm39)	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,519 (GRCm39)	V132E	probably damaging	Het
Npas2	C	A	1: 39,331,843 (GRCm39)	T86N	probably damaging	Het
Or1e32	T	A	11: 73,705,650 (GRCm39)	H86L	probably benign	Het
Or5al7	C	T	2: 85,992,628 (GRCm39)	V222M	possibly damaging	Het
Papola	A	T	12: 105,786,605 (GRCm39)	E103V	probably benign	Het
Parp9	A	T	16: 35,767,921 (GRCm39)	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,877,666 (GRCm39)	D407G	probably damaging	Het
Pcdhb5	T	G	18: 37,455,080 (GRCm39)	Y487D	probably damaging	Het
Pira12	C	G	7: 3,901,049 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,778,181 (GRCm39)	D5G	probably damaging	Het
Plxnb1	T	C	9: 108,933,971 (GRCm39)	L733P	probably benign	Het
Ppfia4	T	C	1: 134,251,899 (GRCm39)	D425G	probably benign	Het
Prss2	T	G	6: 41,498,754 (GRCm39)	I6S	unknown	Het
Psme3ip1	A	G	8: 95,302,348 (GRCm39)	S228P	probably damaging	Het
Qrfprl	T	A	6: 65,433,142 (GRCm39)	F321I	probably damaging	Het
Qrich2	T	A	11: 116,344,979 (GRCm39)	I1693L	probably benign	Het
Rad52	T	C	6: 119,897,143 (GRCm39)	V324A	probably benign	Het
Rapgef2	A	T	3: 78,976,751 (GRCm39)	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Scaf1	A	G	7: 44,656,204 (GRCm39)		probably benign	Het
Sfxn5	T	C	6: 85,246,918 (GRCm39)	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,073,701 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,164,183 (GRCm39)	D62G	possibly damaging	Het
Syt1	A	G	10: 108,336,597 (GRCm39)	V357A	probably benign	Het
Tenm2	T	A	11: 35,937,621 (GRCm39)	D1685V	probably damaging	Het
Tmc3	A	G	7: 83,252,543 (GRCm39)	T315A	probably benign	Het
Tmem266	T	C	9: 55,344,493 (GRCm39)	L375P	probably benign	Het
Tsks	T	G	7: 44,603,263 (GRCm39)	L355R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,203,041 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,532,087 (GRCm39)	V102D	probably damaging	Het
Usp44	G	A	10: 93,683,010 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,575,983 (GRCm39)	F527S	probably benign	Het
Zfp101	A	C	17: 33,600,720 (GRCm39)	Y345*	probably null	Het
Zfp160	C	A	17: 21,247,124 (GRCm39)	A558E	probably benign	Het
Zfp236	T	C	18: 82,622,372 (GRCm39)	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,181,586 (GRCm39)	D481E	probably benign	Het
Zswim4	A	G	8: 84,952,774 (GRCm39)	V396A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTCCAAGTTTCCTTATGCCCTG -3'
(R):5'- GACTCTACAGCATTTATTGAATCCG -3'

Sequencing Primer
(F):5'- GCTCAGAAAGTCTGTTGCAC -3'
(R):5'- ATTGAATCCGTATCTGGAACTGG -3'

Posted On

2018-02-27