Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02469:Gtf2ird2'

294653

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: 0.119) question?

Stock #

IGL02469

Quality Score

Status

Chromosome

Chromosomal Location

134184019-134224355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134191249 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 22 (T22M)

Ref Sequence

ENSEMBL: ENSMUSP00000016086 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000016086
AA Change: T22M

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

SMART Domains

Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: T22M

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 damaging
Transcript: ENSMUST00000123941
AA Change: T22M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,668,115	Q975L	probably damaging	Het
Acad10	T	C	5: 121,645,459	Y301C	probably damaging	Het
Akr7a5	T	A	4: 139,314,181	S134T	probably damaging	Het
Aldh4a1	C	T	4: 139,648,161	T527I	probably damaging	Het
Atf2	A	G	2: 73,846,332	V146A	probably damaging	Het
C2cd6	A	T	1: 58,997,481		probably benign	Het
Caml	T	C	13: 55,628,577	S210P	probably damaging	Het
Casp1	A	C	9: 5,303,105	R186S	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr1	T	A	14: 37,085,600	Q361L	possibly damaging	Het
Chrna3	T	A	9: 55,016,006	T173S	probably benign	Het
Commd6	A	G	14: 101,637,027	V47A	probably damaging	Het
Dmrtc2	T	C	7: 24,872,713		probably benign	Het
Dock3	T	C	9: 106,986,016	D721G	probably damaging	Het
Dpp10	T	C	1: 123,411,803	S332G	probably benign	Het
Dst	A	G	1: 34,188,828	E1834G	probably damaging	Het
Espl1	T	A	15: 102,314,025	L1034Q	probably damaging	Het
Hyal2	T	C	9: 107,572,212	L389P	probably damaging	Het
Lipa	T	C	19: 34,494,035	D380G	probably damaging	Het
March5	T	G	19: 37,217,275	W111G	probably damaging	Het
Olfr1097	T	C	2: 86,891,155	T7A	possibly damaging	Het
Pfkfb2	A	T	1: 130,700,037	I391N	probably damaging	Het
Sec31a	T	C	5: 100,385,255	S544G	probably benign	Het
Slc26a9	A	G	1: 131,762,936	K530E	probably damaging	Het
Spaca3	G	A	11: 80,864,085		probably null	Het
Syne3	T	C	12: 104,954,306	S544G	probably benign	Het
Tctn3	T	C	19: 40,597,523	E526G	probably benign	Het
Tll1	A	T	8: 64,070,280	I466K	probably benign	Het
Ttbk1	A	G	17: 46,470,630	V399A	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,453	L189P	probably damaging	Het
Vmn2r100	T	A	17: 19,531,285	L530*	probably null	Het
Yipf3	T	C	17: 46,250,458		probably null	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
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
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

2015-04-16