Mutagenetix > Incidental Mutation

Incidental Mutation 'R9006:Gtf2h1'

685295

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h1

Ensembl Gene

ENSMUSG00000006599

Gene Name

general transcription factor II H, polypeptide 1

Synonyms

p62, 62kDa

MMRRC Submission

068836-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46445527-46473224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46458262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 271 (M271V)

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 benign
Transcript: ENSMUST00000006774
AA Change: M265V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: M265V

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: M271V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: M271V

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

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: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,665,820 (GRCm39)	N267D	probably benign	Het
Akap1	A	T	11: 88,723,996 (GRCm39)	M803K	possibly damaging	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ankrd31	T	C	13: 96,967,104 (GRCm39)	F528L	probably benign	Het
Arhgef10l	A	G	4: 140,271,659 (GRCm39)	Y624H	probably benign	Het
Bltp2	T	C	11: 78,164,345 (GRCm39)	F1182L	possibly damaging	Het
Cfap73	G	A	5: 120,767,760 (GRCm39)	Q264*	probably null	Het
Clca3a2	C	A	3: 144,783,789 (GRCm39)	A609S	probably damaging	Het
Cntfr	A	T	4: 41,661,971 (GRCm39)		probably null	Het
Cyp2c65	C	T	19: 39,070,714 (GRCm39)	T299I	probably damaging	Het
Cyp2j5	G	T	4: 96,552,149 (GRCm39)	N33K	probably benign	Het
Dhcr7	T	A	7: 143,394,978 (GRCm39)	S165T	probably benign	Het
Dnah10	A	T	5: 124,820,783 (GRCm39)	D539V	probably benign	Het
Ebag9	A	T	15: 44,503,703 (GRCm39)	Q176L	probably benign	Het
Fbxw20	T	A	9: 109,062,530 (GRCm39)		probably benign	Het
Ftmt	A	G	18: 52,465,112 (GRCm39)	K143E	possibly damaging	Het
Gcc2	C	T	10: 58,103,801 (GRCm39)	R76C	probably damaging	Het
Gcn1	A	G	5: 115,719,566 (GRCm39)	T354A	probably benign	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Ism2	G	T	12: 87,326,969 (GRCm39)	D323E	probably damaging	Het
Itih4	A	G	14: 30,612,086 (GRCm39)	I184V	probably damaging	Het
Kdm4d	C	A	9: 14,374,833 (GRCm39)	V342L	probably benign	Het
Lmbr1	A	G	5: 29,551,900 (GRCm39)	F62L	probably benign	Het
Lmo7	TCGGATTCTGTGGC	TC	14: 102,155,072 (GRCm39)		probably benign	Het
Lypd8	T	A	11: 58,277,586 (GRCm39)	S123T	possibly damaging	Het
Mical2	T	A	7: 111,981,323 (GRCm39)	N432K	probably benign	Het
Mrgprb4	A	G	7: 47,848,343 (GRCm39)	V195A	probably benign	Het
Ms4a4c	A	T	19: 11,396,360 (GRCm39)	I106F	probably benign	Het
Myo6	A	G	9: 80,136,140 (GRCm39)	T88A	unknown	Het
Naa35	A	G	13: 59,748,842 (GRCm39)	D158G	possibly damaging	Het
Nol12	A	G	15: 78,824,291 (GRCm39)	E137G	possibly damaging	Het
Nsun4	A	G	4: 115,897,316 (GRCm39)	S232P	probably damaging	Het
Odad2	A	T	18: 7,294,516 (GRCm39)	N32K	probably benign	Het
Odam	A	T	5: 88,040,298 (GRCm39)	I255L	probably benign	Het
Or14j8	A	T	17: 38,263,545 (GRCm39)	Y123*	probably null	Het
Or1ad8	A	T	11: 50,897,975 (GRCm39)	M59L	probably damaging	Het
Or1e26	T	A	11: 73,480,036 (GRCm39)	H176L	probably benign	Het
Or2n1d	T	C	17: 38,646,723 (GRCm39)	V225A	possibly damaging	Het
Or2w3b	G	A	11: 58,623,188 (GRCm39)	Q268*	probably null	Het
Or4b1	T	G	2: 89,980,327 (GRCm39)	T8P	probably damaging	Het
Pcnx2	T	C	8: 126,613,996 (GRCm39)	D485G	probably benign	Het
Polr3b	T	A	10: 84,467,697 (GRCm39)	N92K	probably benign	Het
Rpgrip1l	T	A	8: 92,007,436 (GRCm39)	M385L	probably benign	Het
Sdk1	A	T	5: 141,923,321 (GRCm39)	N314I	probably damaging	Het
Shc4	T	C	2: 125,514,394 (GRCm39)		probably benign	Het
Slc45a1	A	C	4: 150,722,731 (GRCm39)	C384W	probably damaging	Het
Slc4a11	C	T	2: 130,532,773 (GRCm39)	V227M	probably damaging	Het
Sorbs2	A	C	8: 46,258,858 (GRCm39)	S1132R	possibly damaging	Het
Spata31e3	G	A	13: 50,401,589 (GRCm39)	H246Y	possibly damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Spta1	T	A	1: 174,047,537 (GRCm39)	I1727K	probably damaging	Het
Srgap2	T	C	1: 131,283,307 (GRCm39)	E258G	probably damaging	Het
Taco1	A	T	11: 105,956,931 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,909,301 (GRCm39)	M648K	possibly damaging	Het
Taf7	A	G	18: 37,775,757 (GRCm39)	V270A	probably benign	Het
Tbkbp1	G	A	11: 97,029,707 (GRCm39)	T483I	unknown	Het
Tesc	A	G	5: 118,184,378 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,595,427 (GRCm39)	N532S	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem196	T	A	12: 119,978,510 (GRCm39)	C84S	probably damaging	Het
Topbp1	C	T	9: 103,182,499 (GRCm39)		probably benign	Het
Ttc16	A	G	2: 32,652,985 (GRCm39)	S615P	probably benign	Het
Ttc21a	T	A	9: 119,792,130 (GRCm39)		probably benign	Het
Tuba3b	T	C	6: 145,565,564 (GRCm39)	V344A	possibly damaging	Het
Tubgcp4	T	C	2: 121,015,251 (GRCm39)	F320L	probably benign	Het
Tusc3	T	A	8: 39,538,627 (GRCm39)	L222*	probably null	Het
Ubr4	G	A	4: 139,172,003 (GRCm39)		probably null	Het
Uncx	G	T	5: 139,532,936 (GRCm39)	V334L	possibly damaging	Het
Vezf1	C	A	11: 87,965,542 (GRCm39)	F261L	probably damaging	Het
Vezt	T	A	10: 93,809,874 (GRCm39)	I556L	probably benign	Het
Vmn1r172	C	T	7: 23,359,402 (GRCm39)	R96C	probably benign	Het
Zfp383	A	G	7: 29,608,070 (GRCm39)	M1V	probably null	Het
Zfp558	A	T	9: 18,367,776 (GRCm39)	S337R	possibly damaging	Het
Zranb1	T	A	7: 132,572,909 (GRCm39)		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
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
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'- AGGACCTCTTTGCAGAATGTG -3'
(R):5'- TCAAACGCAGGACCTACTG -3'

Sequencing Primer
(F):5'- CAGAATGTGCCAAAATAGATGAGAAG -3'
(R):5'- ACTGCATACTAAAAATCACTTCTGAG -3'

Posted On

2021-10-11