Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03169:Iqgap2'

411785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 95731277 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068603]

Predicted Effect

probably null
Transcript: ENSMUST00000068603

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676

Domain	Start	End	E-Value	Type
CH	43	152	3.32e-16	SMART
coiled coil region	253	276	N/A	INTRINSIC
low complexity region	469	480	N/A	INTRINSIC
IQ	689	711	1.38e-4	SMART
IQ	719	741	7.36e0	SMART
IQ	749	771	2.43e1	SMART
coiled coil region	799	828	N/A	INTRINSIC
RasGAP	905	1258	2.6e-120	SMART
Pfam:RasGAP_C	1367	1498	3.2e-40	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 83,931,995	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,503,900	Q2995L	probably damaging	Het
Capn9	T	C	8: 124,605,877	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,597,760	I197N	probably damaging	Het
Chl1	T	A	6: 103,665,967	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,914,605		probably benign	Het
Cyp2d12	T	C	15: 82,559,291	S485P	probably benign	Het
Ddx50	A	T	10: 62,621,387		probably null	Het
Dlgap4	C	A	2: 156,711,018		probably null	Het
Dpysl4	G	A	7: 139,099,910		probably null	Het
Erbin	T	C	13: 103,841,232	M606V	possibly damaging	Het
Fat4	T	G	3: 38,957,398	S2216A	probably benign	Het
Frem2	T	C	3: 53,522,292	N2779S	probably benign	Het
Fut1	T	C	7: 45,619,033	V82A	probably benign	Het
Gnb1l	C	T	16: 18,540,455	A2V	probably damaging	Het
Hdac1	C	T	4: 129,518,831	E327K	probably null	Het
Hdlbp	A	G	1: 93,416,587	V819A	possibly damaging	Het
Ift122	T	C	6: 115,905,961		probably benign	Het
Kntc1	T	C	5: 123,775,821	V613A	possibly damaging	Het
Lamb1	T	C	12: 31,323,646	V1458A	probably damaging	Het
Lef1	A	G	3: 131,194,663	K265R	probably damaging	Het
Lrp2	T	C	2: 69,523,194	D574G	probably damaging	Het
Mterf2	C	T	10: 85,120,460	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703	R155Q	probably damaging	Het
Obscn	T	C	11: 59,073,296	T3304A	probably damaging	Het
Olfr1251	A	G	2: 89,667,487	I133T	possibly damaging	Het
Olfr137	G	T	17: 38,305,101	S120Y	probably damaging	Het
Os9	G	A	10: 127,098,594	T391M	probably benign	Het
Parp6	C	A	9: 59,650,017	Y131*	probably null	Het
Plxdc1	T	C	11: 97,932,320	E358G	possibly damaging	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Ptprc	A	T	1: 138,113,619	S167R	probably benign	Het
Rad54l2	T	C	9: 106,719,064	D225G	probably benign	Het
Rgs7	T	C	1: 175,270,835	I53V	possibly damaging	Het
Rpa1	T	C	11: 75,301,357	D607G	probably damaging	Het
Shisa5	T	A	9: 109,056,492	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,456,443		probably benign	Het
Taf4b	T	G	18: 14,821,535	V556G	probably damaging	Het
Tgif1	A	C	17: 70,844,841	S258R	possibly damaging	Het
Tmem106a	T	C	11: 101,590,458		probably benign	Het
Vmn1r113	A	T	7: 20,788,087	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,715,023	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,884,340	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,905,491	S241L	possibly damaging	Het
Zfyve9	T	C	4: 108,695,825	Y713C	probably damaging	Het

Other mutations in Iqgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Iqgap2	APN	13	95657944	splice site	probably benign
IGL01968:Iqgap2	APN	13	95635582	missense	possibly damaging	0.80
IGL02049:Iqgap2	APN	13	95675405	splice site	probably benign
IGL02195:Iqgap2	APN	13	95661734	splice site	probably benign
IGL02387:Iqgap2	APN	13	95689701	missense	probably benign	0.00
IGL02634:Iqgap2	APN	13	95628114	missense	probably damaging	1.00
IGL02666:Iqgap2	APN	13	95628056	missense	probably damaging	1.00
IGL02685:Iqgap2	APN	13	95671404	missense	probably damaging	1.00
IGL02927:Iqgap2	APN	13	95724676	missense	possibly damaging	0.62
IGL02943:Iqgap2	APN	13	95661735	splice site	probably benign
IGL03167:Iqgap2	APN	13	95684898	missense	probably benign	0.34
IGL03293:Iqgap2	APN	13	95731434	missense	probably damaging	1.00
R0257:Iqgap2	UTSW	13	95724544	critical splice donor site	probably null
R0335:Iqgap2	UTSW	13	95635633	missense	probably damaging	0.99
R0360:Iqgap2	UTSW	13	95731275	splice site	probably benign
R0364:Iqgap2	UTSW	13	95731275	splice site	probably benign
R0419:Iqgap2	UTSW	13	95689699	critical splice donor site	probably null
R1229:Iqgap2	UTSW	13	95632165	missense	probably benign	0.32
R1290:Iqgap2	UTSW	13	95668513	missense	probably damaging	1.00
R1397:Iqgap2	UTSW	13	95632165	missense	probably benign	0.32
R1498:Iqgap2	UTSW	13	95646805	missense	probably benign
R1513:Iqgap2	UTSW	13	95630010	missense	probably damaging	1.00
R1630:Iqgap2	UTSW	13	95689785	missense	probably benign
R2088:Iqgap2	UTSW	13	95891663	critical splice donor site	probably null
R2928:Iqgap2	UTSW	13	95682236	missense	probably benign
R3026:Iqgap2	UTSW	13	95673056	critical splice acceptor site	probably null
R3720:Iqgap2	UTSW	13	95668528	splice site	probably null
R3846:Iqgap2	UTSW	13	95673678	splice site	probably benign
R4056:Iqgap2	UTSW	13	95750033	missense	probably damaging	1.00
R4077:Iqgap2	UTSW	13	95657867	missense	probably damaging	1.00
R4353:Iqgap2	UTSW	13	95671396	missense	probably damaging	1.00
R4517:Iqgap2	UTSW	13	95664061	critical splice donor site	probably null
R4628:Iqgap2	UTSW	13	95763329	missense	probably benign	0.17
R4686:Iqgap2	UTSW	13	95721609	missense	probably damaging	0.98
R4724:Iqgap2	UTSW	13	95635497	missense	possibly damaging	0.73
R4826:Iqgap2	UTSW	13	95763275	missense	probably damaging	1.00
R4847:Iqgap2	UTSW	13	95673743	missense	probably benign	0.19
R4967:Iqgap2	UTSW	13	95630006	missense	probably benign	0.00
R4973:Iqgap2	UTSW	13	95657797	splice site	probably null
R5010:Iqgap2	UTSW	13	95673743	missense	probably benign	0.19
R5086:Iqgap2	UTSW	13	95635580	missense	probably benign	0.01
R5496:Iqgap2	UTSW	13	95630053	missense	probably damaging	1.00
R5512:Iqgap2	UTSW	13	95675376	nonsense	probably null
R5629:Iqgap2	UTSW	13	95632174	missense	probably damaging	1.00
R5824:Iqgap2	UTSW	13	95675372	missense	probably damaging	0.99
R5830:Iqgap2	UTSW	13	95675372	missense	probably damaging	0.99
R5831:Iqgap2	UTSW	13	95675372	missense	probably damaging	0.99
R5832:Iqgap2	UTSW	13	95675372	missense	probably damaging	0.99
R5833:Iqgap2	UTSW	13	95675372	missense	probably damaging	0.99
R5834:Iqgap2	UTSW	13	95675372	missense	probably damaging	0.99
R5852:Iqgap2	UTSW	13	95675372	missense	probably damaging	0.99
R5888:Iqgap2	UTSW	13	95635610	missense	possibly damaging	0.89
R5889:Iqgap2	UTSW	13	95632042	missense	probably benign	0.00
R6093:Iqgap2	UTSW	13	95628963	missense	probably damaging	0.99
R6141:Iqgap2	UTSW	13	95721686	splice site	probably null
R6404:Iqgap2	UTSW	13	95729477	missense	probably benign	0.28
R6434:Iqgap2	UTSW	13	95682933	missense	possibly damaging	0.85
R6648:Iqgap2	UTSW	13	95682211	missense	probably benign	0.27
R6658:Iqgap2	UTSW	13	95660332	missense	probably damaging	1.00
R6903:Iqgap2	UTSW	13	95661057	missense	probably damaging	1.00
R7223:Iqgap2	UTSW	13	95628972	missense	probably damaging	1.00
R7327:Iqgap2	UTSW	13	95635655	missense	probably benign	0.00
R7371:Iqgap2	UTSW	13	95700338	intron	probably null
R7378:Iqgap2	UTSW	13	95732890	critical splice donor site	probably null
R7441:Iqgap2	UTSW	13	95628076	missense	probably benign	0.23
R7575:Iqgap2	UTSW	13	95661623	missense	probably damaging	0.99
R7671:Iqgap2	UTSW	13	95628119	missense	probably damaging	0.98
R7713:Iqgap2	UTSW	13	95731444	missense	probably benign	0.01
R7806:Iqgap2	UTSW	13	95682257	missense	probably benign	0.00
R7893:Iqgap2	UTSW	13	95689709	missense	probably damaging	0.96
R7976:Iqgap2	UTSW	13	95689709	missense	probably damaging	0.96
R8052:Iqgap2	UTSW	13	95657879	missense	not run
X0066:Iqgap2	UTSW	13	95671383	missense	probably damaging	0.98
Z1176:Iqgap2	UTSW	13	95731443	missense	not run

Posted On

2016-08-02