Mutagenetix > Incidental Mutation

Incidental Mutation 'R5290:Gtf2f2'

424677

Institutional Source

Beutler Lab

Gene Symbol

Gtf2f2

Ensembl Gene

ENSMUSG00000067995

Gene Name

general transcription factor IIF, polypeptide 2

Synonyms

1110031C13Rik

MMRRC Submission

042873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76134377-76248305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76135089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 212 (Y212C)

Ref Sequence

ENSEMBL: ENSMUSP00000086312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088922]

AlphaFold

Q8R0A0

Predicted Effect

probably damaging
Transcript: ENSMUST00000088922
AA Change: Y212C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086312
Gene: ENSMUSG00000067995
AA Change: Y212C

Domain	Start	End	E-Value	Type
Pfam:TFIIF_beta	7	105	6.7e-19	PFAM
Pfam:TFIIF_beta	99	240	1e-44	PFAM

Meta Mutation Damage Score

0.9191

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	T	16: 90,351,098 (GRCm39)		noncoding transcript	Het
2700049A03Rik	C	A	12: 71,235,565 (GRCm39)	P1172T	probably benign	Het
Abi3bp	T	A	16: 56,462,838 (GRCm39)		probably null	Het
Apod	T	A	16: 31,129,884 (GRCm39)	H24L	probably damaging	Het
Arfgef3	T	C	10: 18,476,208 (GRCm39)	E1537G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,036 (GRCm39)	V53A	possibly damaging	Het
Ccdc113	C	A	8: 96,267,424 (GRCm39)		probably null	Het
Cd7	T	G	11: 120,928,936 (GRCm39)	D105A	probably damaging	Het
Celsr3	C	T	9: 108,720,357 (GRCm39)	T2550M	probably benign	Het
Cibar1	T	C	4: 12,171,195 (GRCm39)	Q86R	probably benign	Het
Col6a5	C	T	9: 105,823,282 (GRCm39)	G25D	unknown	Het
Cps1	A	G	1: 67,211,868 (GRCm39)	M679V	probably benign	Het
Dnai4	A	T	4: 102,906,730 (GRCm39)	D694E	probably benign	Het
Dync1h1	A	T	12: 110,581,502 (GRCm39)	T316S	probably benign	Het
Edrf1	T	C	7: 133,252,295 (GRCm39)	Y449H	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Flg2	A	T	3: 93,127,873 (GRCm39)	I2262L	unknown	Het
Flnc	T	C	6: 29,457,553 (GRCm39)	L2417P	probably damaging	Het
Gabrp	A	T	11: 33,517,310 (GRCm39)	Y121N	probably damaging	Het
Gdpd4	A	G	7: 97,615,543 (GRCm39)	T123A	possibly damaging	Het
Gpr162	C	A	6: 124,838,232 (GRCm39)	M139I	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gsn	G	A	2: 35,186,484 (GRCm39)	S410N	probably benign	Het
Hao2	C	T	3: 98,784,493 (GRCm39)	A291T	probably damaging	Het
Igkv1-133	A	G	6: 67,702,563 (GRCm39)	T94A	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,923 (GRCm39)	A188T	possibly damaging	Het
Itpr1	T	C	6: 108,383,106 (GRCm39)	V1478A	possibly damaging	Het
Kdm5b	T	C	1: 134,549,837 (GRCm39)		probably null	Het
Kif5b	A	T	18: 6,234,882 (GRCm39)	D49E	probably damaging	Het
Lmbr1l	A	G	15: 98,810,123 (GRCm39)	W113R	probably damaging	Het
Lrp2	T	C	2: 69,343,698 (GRCm39)	D887G	probably damaging	Het
Lrrc14	T	A	15: 76,598,143 (GRCm39)	M291K	probably benign	Het
Lypd11	T	C	7: 24,422,836 (GRCm39)	E79G	probably benign	Het
Mgarp	G	A	3: 51,296,387 (GRCm39)	A205V	possibly damaging	Het
Msl2	T	C	9: 100,978,606 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,440,406 (GRCm39)	Q487*	probably null	Het
Notch4	T	C	17: 34,784,263 (GRCm39)	V22A	probably benign	Het
Npc1l1	T	A	11: 6,172,221 (GRCm39)	Q823L	probably benign	Het
Obox3	T	C	7: 15,360,774 (GRCm39)	K122E	probably benign	Het
Or10ab5	C	T	7: 108,245,755 (GRCm39)	M9I	probably benign	Het
Or2a12	A	G	6: 42,904,972 (GRCm39)	K269R	probably damaging	Het
Or8s10	T	C	15: 98,336,213 (GRCm39)	Y288H	probably damaging	Het
Plekhh3	T	A	11: 101,057,397 (GRCm39)	M287L	possibly damaging	Het
Prpf3	A	T	3: 95,760,857 (GRCm39)	I15K	probably benign	Het
Rpl12-ps1	G	T	1: 36,997,423 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,446,899 (GRCm39)	V2489A	probably damaging	Het
Slfn10-ps	T	A	11: 82,919,851 (GRCm39)		noncoding transcript	Het
Smad2	C	T	18: 76,395,795 (GRCm39)	P78L	probably damaging	Het
Spen	G	A	4: 141,201,127 (GRCm39)	T2500I	probably damaging	Het
Stmnd1	A	G	13: 46,453,074 (GRCm39)	D250G	probably benign	Het
Tjp2	T	G	19: 24,108,568 (GRCm39)	E181D	probably benign	Het
Tmem131l	T	C	3: 83,806,572 (GRCm39)	D1478G	probably benign	Het
Trim72	G	T	7: 127,609,176 (GRCm39)	R326L	probably benign	Het
Ttn	A	T	2: 76,727,584 (GRCm39)		probably benign	Het
Vmn1r177	A	T	7: 23,565,498 (GRCm39)	M126K	probably damaging	Het
Vmn1r57	A	G	7: 5,224,319 (GRCm39)	I281M	probably damaging	Het
Vmn2r108	C	A	17: 20,691,665 (GRCm39)	R286L	probably benign	Het
Wdr25	T	C	12: 108,863,968 (GRCm39)	S38P	probably benign	Het
Zfp937	T	A	2: 150,080,229 (GRCm39)	Y86*	probably null	Het
Zfr2	CTCAGACTGGTGTCAGAC	CTCAGAC	10: 81,082,544 (GRCm39)		probably null	Het
Zswim1	C	T	2: 164,667,845 (GRCm39)	H366Y	probably damaging	Het

Other mutations in Gtf2f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Gtf2f2	APN	14	76,232,941 (GRCm39)	missense	probably benign	0.00
IGL02598:Gtf2f2	APN	14	76,245,182 (GRCm39)	missense	probably benign
R1054:Gtf2f2	UTSW	14	76,232,885 (GRCm39)	missense	probably benign	0.00
R1828:Gtf2f2	UTSW	14	76,245,143 (GRCm39)	critical splice donor site	probably null
R2062:Gtf2f2	UTSW	14	76,155,136 (GRCm39)	missense	possibly damaging	0.95
R2063:Gtf2f2	UTSW	14	76,155,136 (GRCm39)	missense	possibly damaging	0.95
R2068:Gtf2f2	UTSW	14	76,155,136 (GRCm39)	missense	possibly damaging	0.95
R4668:Gtf2f2	UTSW	14	76,155,078 (GRCm39)	missense	probably benign	0.00
R4840:Gtf2f2	UTSW	14	76,248,131 (GRCm39)	missense	probably damaging	1.00
R7342:Gtf2f2	UTSW	14	76,144,317 (GRCm39)	missense	probably damaging	0.99
R8783:Gtf2f2	UTSW	14	76,245,164 (GRCm39)	missense	probably damaging	1.00
Z1088:Gtf2f2	UTSW	14	76,135,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTGTCCTGTCAAGGCAG -3'
(R):5'- AGGCCTTTGATGCACATGG -3'

Sequencing Primer
(F):5'- TGTCAAGGCAGGCAGGC -3'
(R):5'- CGAAGGTTCTGAGTTCAAATCCCAG -3'

Posted On

2016-08-04