Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL01824

Quality Score

Status

Chromosome

Chromosomal Location

134211629-134246988 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 134226123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120792 (fasta)

Gene Model

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

AlphaFold

Q99NI3

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: 83,800,497 (GRCm39)	R186C	probably benign	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Asah1	A	T	8: 41,802,580 (GRCm39)		probably benign	Het
Chrm1	T	C	19: 8,656,494 (GRCm39)	W400R	probably damaging	Het
Cyp27a1	G	T	1: 74,775,040 (GRCm39)	E290*	probably null	Het
Dnah7a	T	C	1: 53,543,429 (GRCm39)	D2247G	probably benign	Het
Gins4	G	A	8: 23,724,784 (GRCm39)	Q57*	probably null	Het
Gli1	T	C	10: 127,172,396 (GRCm39)	D219G	probably benign	Het
Greb1	A	T	12: 16,761,717 (GRCm39)	C554*	probably null	Het
Ifna15	T	C	4: 88,476,020 (GRCm39)	R155G	probably benign	Het
Lck	T	A	4: 129,451,939 (GRCm39)	M14L	probably benign	Het
Megf6	A	G	4: 154,336,691 (GRCm39)	D322G	probably damaging	Het
Or4b1b	T	A	2: 90,112,263 (GRCm39)	I219F	probably damaging	Het
Pcdh18	A	T	3: 49,709,223 (GRCm39)	D697E	probably damaging	Het
Pnp	C	T	14: 51,188,870 (GRCm39)	T221I	probably damaging	Het
Ppl	A	G	16: 4,905,753 (GRCm39)	I1514T	probably damaging	Het
Scnn1g	A	G	7: 121,365,516 (GRCm39)	M523V	probably benign	Het
Sema4c	A	G	1: 36,592,110 (GRCm39)	Y246H	possibly damaging	Het
Slco1a5	T	A	6: 142,198,763 (GRCm39)	I301F	probably benign	Het
Srebf1	A	G	11: 60,094,957 (GRCm39)	S446P	probably benign	Het
Sys1	T	G	2: 164,305,225 (GRCm39)	L56R	probably damaging	Het
Trpc7	G	T	13: 56,937,535 (GRCm39)	Y585*	probably null	Het
Vmn2r110	T	A	17: 20,794,929 (GRCm39)	Y580F	probably benign	Het
Zmym6	G	T	4: 127,002,499 (GRCm39)	V485F	probably damaging	Het

Other mutations in Gtf2ird2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Gtf2ird2	APN	5	134,225,394 (GRCm39)	missense	possibly damaging	0.93
IGL01295:Gtf2ird2	APN	5	134,221,603 (GRCm39)	missense	probably damaging	1.00
IGL01603:Gtf2ird2	APN	5	134,231,129 (GRCm39)	splice site	probably benign
IGL02469:Gtf2ird2	APN	5	134,220,088 (GRCm39)	missense	probably damaging	1.00
IGL02525:Gtf2ird2	APN	5	134,245,319 (GRCm39)	missense	probably benign	0.03
IGL02567:Gtf2ird2	APN	5	134,241,890 (GRCm39)	unclassified	probably benign
IGL02750:Gtf2ird2	APN	5	134,245,731 (GRCm39)	missense	probably damaging	0.99
IGL02992:Gtf2ird2	APN	5	134,246,456 (GRCm39)	missense	possibly damaging	0.79
IGL03000:Gtf2ird2	APN	5	134,223,745 (GRCm39)	missense	probably benign	0.45
IGL03114:Gtf2ird2	APN	5	134,245,752 (GRCm39)	splice site	probably null
IGL03180:Gtf2ird2	APN	5	134,220,087 (GRCm39)	missense	probably damaging	1.00
R0077:Gtf2ird2	UTSW	5	134,242,925 (GRCm39)	missense	probably damaging	1.00
R0100:Gtf2ird2	UTSW	5	134,245,857 (GRCm39)	missense	probably damaging	0.97
R0100:Gtf2ird2	UTSW	5	134,245,857 (GRCm39)	missense	probably damaging	0.97
R0344:Gtf2ird2	UTSW	5	134,220,088 (GRCm39)	missense	probably damaging	1.00
R0568:Gtf2ird2	UTSW	5	134,240,083 (GRCm39)	nonsense	probably null
R0570:Gtf2ird2	UTSW	5	134,237,785 (GRCm39)	critical splice donor site	probably null
R0730:Gtf2ird2	UTSW	5	134,221,597 (GRCm39)	nonsense	probably null
R0826:Gtf2ird2	UTSW	5	134,245,797 (GRCm39)	missense	probably damaging	1.00
R1707:Gtf2ird2	UTSW	5	134,245,829 (GRCm39)	missense	probably damaging	1.00
R1710:Gtf2ird2	UTSW	5	134,240,081 (GRCm39)	missense	probably benign	0.26
R2064:Gtf2ird2	UTSW	5	134,245,340 (GRCm39)	nonsense	probably null
R2284:Gtf2ird2	UTSW	5	134,246,025 (GRCm39)	missense	probably benign	0.05
R2375:Gtf2ird2	UTSW	5	134,245,977 (GRCm39)	missense	probably benign	0.20
R3104:Gtf2ird2	UTSW	5	134,237,756 (GRCm39)	missense	probably benign	0.42
R4436:Gtf2ird2	UTSW	5	134,223,808 (GRCm39)	missense	possibly damaging	0.95
R4647:Gtf2ird2	UTSW	5	134,245,034 (GRCm39)	missense	probably damaging	1.00
R4708:Gtf2ird2	UTSW	5	134,245,140 (GRCm39)	missense	probably damaging	0.99
R4775:Gtf2ird2	UTSW	5	134,242,970 (GRCm39)	missense	probably benign	0.01
R4999:Gtf2ird2	UTSW	5	134,246,306 (GRCm39)	missense	probably damaging	0.97
R5011:Gtf2ird2	UTSW	5	134,245,824 (GRCm39)	missense	possibly damaging	0.90
R5036:Gtf2ird2	UTSW	5	134,246,349 (GRCm39)	missense	probably damaging	1.00
R5261:Gtf2ird2	UTSW	5	134,245,061 (GRCm39)	missense	probably benign	0.00
R5379:Gtf2ird2	UTSW	5	134,246,310 (GRCm39)	missense	probably benign
R5921:Gtf2ird2	UTSW	5	134,246,426 (GRCm39)	missense	probably damaging	1.00
R6180:Gtf2ird2	UTSW	5	134,245,389 (GRCm39)	missense	probably damaging	1.00
R6483:Gtf2ird2	UTSW	5	134,240,066 (GRCm39)	missense	probably benign	0.00
R7355:Gtf2ird2	UTSW	5	134,245,491 (GRCm39)	missense	probably benign	0.24
R7475:Gtf2ird2	UTSW	5	134,230,267 (GRCm39)	missense	possibly damaging	0.47
R7566:Gtf2ird2	UTSW	5	134,242,848 (GRCm39)	missense	probably damaging	1.00
R8021:Gtf2ird2	UTSW	5	134,232,175 (GRCm39)	missense	probably benign
R8701:Gtf2ird2	UTSW	5	134,245,077 (GRCm39)	missense	probably damaging	1.00
R8756:Gtf2ird2	UTSW	5	134,226,090 (GRCm39)	missense	possibly damaging	0.80
R8898:Gtf2ird2	UTSW	5	134,226,106 (GRCm39)	missense	probably benign
R8932:Gtf2ird2	UTSW	5	134,237,739 (GRCm39)	missense	probably benign	0.00
R8946:Gtf2ird2	UTSW	5	134,245,161 (GRCm39)	missense	probably damaging	1.00
R8955:Gtf2ird2	UTSW	5	134,245,596 (GRCm39)	missense	probably damaging	0.98
R9065:Gtf2ird2	UTSW	5	134,225,407 (GRCm39)	missense	probably damaging	0.99
R9288:Gtf2ird2	UTSW	5	134,221,571 (GRCm39)	missense	possibly damaging	0.82
R9566:Gtf2ird2	UTSW	5	134,246,256 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04