Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Gtf2h2'

355507

Institutional Source

Beutler Lab

Gene Symbol

Gtf2h2

Ensembl Gene

ENSMUSG00000021639

Gene Name

general transcription factor II H, polypeptide 2

Synonyms

Btf2p44, 44kDa, basal transcription factor 2, p44 subunit, p44

MMRRC Submission

042018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100596726-100629087 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 100605523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 82 (C82*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066984] [ENSMUST00000134842] [ENSMUST00000145266]

AlphaFold

Q9JIB4

Predicted Effect

probably null
Transcript: ENSMUST00000066984
AA Change: C361*

SMART Domains

Protein: ENSMUSP00000065228
Gene: ENSMUSG00000021639
AA Change: C361*

Domain	Start	End	E-Value	Type
VWA	58	240	1.02e-14	SMART
Blast:BIR	291	310	6e-7	BLAST
C1_4	345	388	3.13e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134842

SMART Domains

Protein: ENSMUSP00000138748
Gene: ENSMUSG00000021639

Domain	Start	End	E-Value	Type
Pfam:Ssl1	64	139	2.4e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142182

Predicted Effect

probably null
Transcript: ENSMUST00000145266
AA Change: C361*

SMART Domains

Protein: ENSMUSP00000138108
Gene: ENSMUSG00000021639
AA Change: C361*

Domain	Start	End	E-Value	Type
VWA	58	240	1.02e-14	SMART
Blast:BIR	291	310	6e-7	BLAST
C1_4	345	388	3.13e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222510

Predicted Effect

probably null
Transcript: ENSMUST00000232450
AA Change: C82*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cers2	A	G	3: 95,227,534 (GRCm39)	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gimap3	A	T	6: 48,742,327 (GRCm39)	L201Q	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grhl1	A	G	12: 24,636,132 (GRCm39)	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Incenp	G	A	19: 9,853,964 (GRCm39)	R696W	unknown	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,573,443 (GRCm39)	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2ak4	T	C	11: 58,649,013 (GRCm39)	V174A	possibly damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	probably benign	Het

Other mutations in Gtf2h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Gtf2h2	APN	13	100,617,506 (GRCm39)	unclassified	probably benign
IGL00780:Gtf2h2	APN	13	100,615,729 (GRCm39)	missense	probably benign	0.01
IGL01475:Gtf2h2	APN	13	100,617,541 (GRCm39)	missense	probably damaging	1.00
IGL02298:Gtf2h2	APN	13	100,617,547 (GRCm39)	missense	probably damaging	1.00
IGL02754:Gtf2h2	APN	13	100,617,747 (GRCm39)	missense	probably damaging	1.00
R0602:Gtf2h2	UTSW	13	100,605,533 (GRCm39)	missense	probably benign	0.03
R0621:Gtf2h2	UTSW	13	100,625,433 (GRCm39)	missense	probably damaging	1.00
R0665:Gtf2h2	UTSW	13	100,617,562 (GRCm39)	missense	probably damaging	1.00
R4810:Gtf2h2	UTSW	13	100,617,510 (GRCm39)	critical splice donor site	probably null
R5262:Gtf2h2	UTSW	13	100,618,356 (GRCm39)	unclassified	probably benign
R5548:Gtf2h2	UTSW	13	100,617,544 (GRCm39)	missense	possibly damaging	0.92
R5741:Gtf2h2	UTSW	13	100,617,066 (GRCm39)	missense	probably benign	0.00
R6802:Gtf2h2	UTSW	13	100,617,051 (GRCm39)	missense	probably benign	0.39
R7256:Gtf2h2	UTSW	13	100,615,709 (GRCm39)	missense	probably benign	0.05
R8355:Gtf2h2	UTSW	13	100,605,503 (GRCm39)	missense	possibly damaging	0.89
R9139:Gtf2h2	UTSW	13	100,617,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCTTCTTTCAAAGTGCTTTCATG -3'
(R):5'- CCTTATTCCACAGGGCTGGC -3'

Sequencing Primer
(F):5'- ATACCTGAAGGAGTTGGG -3'
(R):5'- TATTCCACAGGGCTGGCTGAAG -3'

Posted On

2015-10-21