Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01824:Gtf2ird2'

154636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtf2ird2

Ensembl Gene

ENSMUSG00000015942

Gene Name

GTF2I repeat domain containing 2

Synonyms

1700012P16Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL01824

Quality Score

Status

Chromosome

Chromosomal Location

134184019-134224355 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 134197282 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120792 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000016086

SMART Domains

Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942

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: ENSMUST00000201098

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	G	A	7: 84,151,289	R186C	probably benign	Het
Ankar	A	G	1: 72,651,727	V1196A	probably benign	Het
Asah1	A	T	8: 41,349,543		probably benign	Het
Chrm1	T	C	19: 8,679,130	W400R	probably damaging	Het
Cyp27a1	G	T	1: 74,735,881	E290*	probably null	Het
Dnah7a	T	C	1: 53,504,270	D2247G	probably benign	Het
Gins4	G	A	8: 23,234,768	Q57*	probably null	Het
Gli1	T	C	10: 127,336,527	D219G	probably benign	Het
Greb1	A	T	12: 16,711,716	C554*	probably null	Het
Ifna15	T	C	4: 88,557,783	R155G	probably benign	Het
Lck	T	A	4: 129,558,146	M14L	probably benign	Het
Megf6	A	G	4: 154,252,234	D322G	probably damaging	Het
Olfr1272	T	A	2: 90,281,919	I219F	probably damaging	Het
Pcdh18	A	T	3: 49,754,774	D697E	probably damaging	Het
Pnp	C	T	14: 50,951,413	T221I	probably damaging	Het
Ppl	A	G	16: 5,087,889	I1514T	probably damaging	Het
Scnn1g	A	G	7: 121,766,293	M523V	probably benign	Het
Sema4c	A	G	1: 36,553,029	Y246H	possibly damaging	Het
Slco1a5	T	A	6: 142,253,037	I301F	probably benign	Het
Srebf1	A	G	11: 60,204,131	S446P	probably benign	Het
Sys1	T	G	2: 164,463,305	L56R	probably damaging	Het
Trpc7	G	T	13: 56,789,722	Y585*	probably null	Het
Vmn2r110	T	A	17: 20,574,667	Y580F	probably benign	Het
Zmym6	G	T	4: 127,108,706	V485F	probably damaging	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
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	unclassified	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
R6483:Gtf2ird2	UTSW	5	134211225	missense	probably benign	0.00
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

Posted On

2014-02-04