Mutagenetix > Incidental Mutations

Incidental Mutation 'R6483:Gtf2ird2'

517203

Institutional Source

Beutler Lab

Gene Symbol

Gtf2ird2

Ensembl Gene

ENSMUSG00000015942

Gene Name

GTF2I repeat domain containing 2

Synonyms

1700012P16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R6483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134184019-134224355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134211225 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 296 (N296S)

Ref Sequence

ENSEMBL: ENSMUSP00000016086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000123941] [ENSMUST00000152587]

Predicted Effect

probably benign
Transcript: ENSMUST00000016086
AA Change: N296S

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

SMART Domains

Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: N296S

Domain	Start	End	E-Value	Type
Pfam:GTF2I	104	178	6.1e-31	PFAM
Pfam:GTF2I	328	402	1.6e-25	PFAM
Blast:Tryp_SPc	436	491	4e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128842

Predicted Effect

probably benign
Transcript: ENSMUST00000135588

Predicted Effect

probably benign
Transcript: ENSMUST00000152587

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	G	14: 29,978,581	L39R	possibly damaging	Het
Amer3	T	C	1: 34,587,690	S337P	probably damaging	Het
Arhgef10l	A	T	4: 140,616,915	I12K	probably damaging	Het
Atp2b4	A	G	1: 133,729,880	V624A	possibly damaging	Het
BB014433	A	T	8: 15,042,208	L215Q	probably benign	Het
Bod1l	A	G	5: 41,821,082	V963A	probably benign	Het
Bpifa6	T	C	2: 153,990,434	L287S	probably benign	Het
Bsnd	A	T	4: 106,488,015	L78Q	probably damaging	Het
C1qtnf3	T	C	15: 10,958,070		probably null	Het
Ccdc180	T	G	4: 45,921,950	V1008G	probably benign	Het
Ccl1	T	G	11: 82,178,034	D59A	possibly damaging	Het
Cfap58	T	C	19: 47,983,452	I607T	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cntnap4	C	T	8: 112,757,473	P386L	possibly damaging	Het
Col1a1	G	A	11: 94,942,618		probably null	Het
Dnajc13	A	T	9: 104,207,804	D798E	probably damaging	Het
Eml6	T	G	11: 29,749,875	I1754L	probably benign	Het
Ercc8	T	A	13: 108,183,810	V310D	probably damaging	Het
Fat2	G	A	11: 55,296,345	T1225I	probably damaging	Het
Gba	A	G	3: 89,208,603	Y510C	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm43302	T	A	5: 105,275,860	M416L	probably benign	Het
Grxcr2	A	T	18: 41,991,890	V151E	probably benign	Het
Herc1	T	A	9: 66,448,529	I2354N	possibly damaging	Het
Inhbc	G	A	10: 127,357,440	R236*	probably null	Het
Itpr2	T	C	6: 146,112,477	D2607G	possibly damaging	Het
Kcnh7	T	A	2: 62,845,774	D298V	probably benign	Het
Klrb1c	A	G	6: 128,784,185	S160P	probably benign	Het
Mrgpra2a	C	G	7: 47,426,689	E274Q	probably benign	Het
Muc5ac	T	A	7: 141,802,854	F1059L	probably benign	Het
Naglu	T	C	11: 101,071,181	I160T	probably damaging	Het
Nasp	A	T	4: 116,618,948	L47Q	probably damaging	Het
Olfr1037	C	A	2: 86,085,440	M112I	probably benign	Het
Olfr519	C	T	7: 108,894,111	V99M	possibly damaging	Het
Olfr686	T	C	7: 105,204,293	T17A	probably benign	Het
Opa1	C	T	16: 29,628,707	T873I	possibly damaging	Het
Pttg1	A	G	11: 43,424,844	F48L	probably damaging	Het
Rho	T	C	6: 115,932,257	F85L	possibly damaging	Het
Rnasel	T	C	1: 153,754,686	V316A	probably benign	Het
Slc36a3	A	G	11: 55,135,263	I243T	probably benign	Het
Tada2b	G	A	5: 36,476,685	T183M	possibly damaging	Het
Tbc1d22a	A	G	15: 86,301,567	M286V	possibly damaging	Het
Trim69	G	T	2: 122,167,600	E18*	probably null	Het
Ttn	T	C	2: 76,942,050	T2503A	possibly damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Zfp654	T	A	16: 64,791,947	N192I	possibly damaging	Het
Zfp809	G	A	9: 22,236,244	R58H	probably benign	Het

Other mutations in Gtf2ird2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Gtf2ird2	APN	5	134196553	missense	possibly damaging	0.93
IGL01295:Gtf2ird2	APN	5	134192764	missense	probably damaging	1.00
IGL01603:Gtf2ird2	APN	5	134202288	splice site	probably benign
IGL01824:Gtf2ird2	APN	5	134197282	splice site	probably benign
IGL02469:Gtf2ird2	APN	5	134191249	missense	probably damaging	1.00
IGL02525:Gtf2ird2	APN	5	134216477	missense	probably benign	0.03
IGL02567:Gtf2ird2	APN	5	134213048	unclassified	probably benign
IGL02750:Gtf2ird2	APN	5	134216889	missense	probably damaging	0.99
IGL02992:Gtf2ird2	APN	5	134217614	missense	possibly damaging	0.79
IGL03000:Gtf2ird2	APN	5	134194906	missense	probably benign	0.45
IGL03114:Gtf2ird2	APN	5	134216910	splice site	probably null
IGL03180:Gtf2ird2	APN	5	134191248	missense	probably damaging	1.00
R0077:Gtf2ird2	UTSW	5	134214083	missense	probably damaging	1.00
R0100:Gtf2ird2	UTSW	5	134217015	missense	probably damaging	0.97
R0100:Gtf2ird2	UTSW	5	134217015	missense	probably damaging	0.97
R0344:Gtf2ird2	UTSW	5	134191249	missense	probably damaging	1.00
R0568:Gtf2ird2	UTSW	5	134211242	nonsense	probably null
R0570:Gtf2ird2	UTSW	5	134208944	critical splice donor site	probably null
R0730:Gtf2ird2	UTSW	5	134192758	nonsense	probably null
R0826:Gtf2ird2	UTSW	5	134216955	missense	probably damaging	1.00
R1707:Gtf2ird2	UTSW	5	134216987	missense	probably damaging	1.00
R1710:Gtf2ird2	UTSW	5	134211240	missense	probably benign	0.26
R2064:Gtf2ird2	UTSW	5	134216498	nonsense	probably null
R2284:Gtf2ird2	UTSW	5	134217183	missense	probably benign	0.05
R2375:Gtf2ird2	UTSW	5	134217135	missense	probably benign	0.20
R3104:Gtf2ird2	UTSW	5	134208915	missense	probably benign	0.42
R4436:Gtf2ird2	UTSW	5	134194969	missense	possibly damaging	0.95
R4647:Gtf2ird2	UTSW	5	134216192	missense	probably damaging	1.00
R4708:Gtf2ird2	UTSW	5	134216298	missense	probably damaging	0.99
R4775:Gtf2ird2	UTSW	5	134214128	missense	probably benign	0.01
R4999:Gtf2ird2	UTSW	5	134217464	missense	probably damaging	0.97
R5011:Gtf2ird2	UTSW	5	134216982	missense	possibly damaging	0.90
R5036:Gtf2ird2	UTSW	5	134217507	missense	probably damaging	1.00
R5261:Gtf2ird2	UTSW	5	134216219	missense	probably benign	0.00
R5379:Gtf2ird2	UTSW	5	134217468	missense	probably benign
R5921:Gtf2ird2	UTSW	5	134217584	missense	probably damaging	1.00
R6180:Gtf2ird2	UTSW	5	134216547	missense	probably damaging	1.00
R7355:Gtf2ird2	UTSW	5	134216649	missense	probably benign	0.24
R7475:Gtf2ird2	UTSW	5	134201426	missense	possibly damaging	0.47
R7566:Gtf2ird2	UTSW	5	134214006	missense	probably damaging	1.00
R8021:Gtf2ird2	UTSW	5	134203334	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCAACCATCTTTCAACACCG -3'
(R):5'- CTTTAAAGAGTGGCTCAGGGG -3'

Sequencing Primer
(F):5'- TTTCAACACCGCACACAGGG -3'
(R):5'- CCAATCTGAACTTGATGGGCACTAG -3'

Posted On

2018-05-21