Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02525:Gtf2ird2'

297068

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 #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

134184019-134224355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134216477 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 526 (S526G)

Ref Sequence

ENSEMBL: ENSMUSP00000016086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000016094] [ENSMUST00000111275] [ENSMUST00000123941] [ENSMUST00000144086] [ENSMUST00000146354] [ENSMUST00000152587]

Predicted Effect

probably benign
Transcript: ENSMUST00000016086
AA Change: S526G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: S526G

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: ENSMUST00000016094

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	403	1.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111275

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128842

Predicted Effect

probably benign
Transcript: ENSMUST00000135588

Predicted Effect

probably benign
Transcript: ENSMUST00000144086

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
low complexity region	336	344	N/A	INTRINSIC
low complexity region	349	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146354

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182626

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 24,611,044	V701I	probably benign	Het
Adam18	A	G	8: 24,641,767		probably benign	Het
Adamts20	G	T	15: 94,283,078		probably null	Het
Adgrf5	G	T	17: 43,449,963	V850F	probably damaging	Het
Agap2	T	A	10: 127,083,201		probably null	Het
Ap4b1	G	A	3: 103,812,848	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Ccdc12	T	A	9: 110,711,101	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,595,010	S529P	probably damaging	Het
Col1a2	A	G	6: 4,531,355		probably benign	Het
Ddx59	A	T	1: 136,417,005	Q138L	probably benign	Het
Dlc1	A	T	8: 36,579,646	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,305,833	V682M	probably benign	Het
Dock9	C	T	14: 121,640,126	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,189,618	V402A	probably damaging	Het
Erlin1	T	C	19: 44,039,195	H268R	probably benign	Het
Ermard	T	C	17: 15,059,339		probably benign	Het
Fam43a	A	G	16: 30,600,778	K60R	probably benign	Het
Frmd4b	T	A	6: 97,412,533	D78V	probably damaging	Het
Gabrq	A	G	X: 72,836,824	T308A	possibly damaging	Het
Gipr	A	G	7: 19,159,765	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,611,223	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,689,907		probably benign	Het
Gm21759	T	C	5: 8,179,967		probably benign	Het
Gm7964	A	G	7: 83,756,042		noncoding transcript	Het
Gspt1	A	G	16: 11,230,990	V318A	probably damaging	Het
Hey2	A	G	10: 30,842,647	M1T	probably null	Het
Hipk3	T	C	2: 104,471,412	D145G	probably damaging	Het
Ick	A	G	9: 78,160,393	K390E	probably benign	Het
Itgae	A	G	11: 73,130,951	D886G	probably damaging	Het
Ktn1	T	A	14: 47,724,743		probably null	Het
Med12l	A	G	3: 59,068,368	K239R	probably benign	Het
Milr1	A	T	11: 106,765,275	M124L	probably benign	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,891,583	S95F	probably benign	Het
Myef2	C	A	2: 125,114,058		probably benign	Het
Nfrkb	T	A	9: 31,414,516	I1085N	possibly damaging	Het
Olfr275	A	T	4: 52,825,616	Y73F	probably damaging	Het
Olfr924	T	A	9: 38,848,240	M42K	possibly damaging	Het
Prodh	G	A	16: 18,072,468	Q430*	probably null	Het
Pstk	G	T	7: 131,371,193	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067	E108D	probably benign	Het
Ptpn9	T	A	9: 57,036,725	Y294*	probably null	Het
Rnls	C	T	19: 33,138,214	V153M	possibly damaging	Het
Ros1	T	C	10: 52,116,042	T1362A	possibly damaging	Het
Samt3	G	A	X: 86,046,921	A140T	possibly damaging	Het
Sbpl	T	A	17: 23,954,863	M16L	unknown	Het
Sephs1	G	A	2: 4,906,596	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,136	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,403,238		probably benign	Het
Slc7a9	T	C	7: 35,453,435	S93P	probably damaging	Het
Slx4	A	G	16: 3,980,597	S1444P	probably damaging	Het
Stk32b	C	T	5: 37,531,633	V116M	probably damaging	Het
Supt5	A	G	7: 28,318,947		probably benign	Het
Syne2	T	A	12: 76,101,003	S6439T	probably damaging	Het
Taar7d	A	G	10: 24,028,096	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971	I51F	probably damaging	Het
Thegl	T	A	5: 77,016,553	D134E	probably benign	Het
Tk2	A	T	8: 104,243,400	N77K	probably benign	Het
Tmprss3	T	A	17: 31,194,891		probably benign	Het
Tnfrsf10b	T	C	14: 69,782,376	M319T	probably damaging	Het
Trim24	A	G	6: 37,945,718	R417G	probably damaging	Het
Ttn	C	A	2: 76,764,314	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,681,185	T525A	probably benign	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wnt3	C	T	11: 103,812,470	R260W	probably damaging	Het
Xdh	T	A	17: 73,924,995	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731	T218A	probably benign	Het
Znfx1	C	T	2: 167,037,537	E776K	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
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