Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Iqgap1'

281557

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd237e, D7Ertd257e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

80711583-80825974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80738121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 926 (T926M)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167377]

AlphaFold

Q9JKF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000167377
AA Change: T926M

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

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: T926M

Domain	Start	End	E-Value	Type
CH	46	155	2.02e-20	SMART
internal_repeat_1	203	278	3.71e-8	PROSPERO
low complexity region	324	335	N/A	INTRINSIC
low complexity region	390	399	N/A	INTRINSIC
coiled coil region	488	515	N/A	INTRINSIC
internal_repeat_1	608	684	3.71e-8	PROSPERO
IQ	744	766	3.85e-3	SMART
IQ	774	796	1.12e-4	SMART
IQ	804	826	1.32e-1	SMART
IQ	834	856	1.15e1	SMART
coiled coil region	886	914	N/A	INTRINSIC
RasGAP	992	1345	7.46e-89	SMART
Pfam:RasGAP_C	1452	1580	4.5e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205383

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 four 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. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit a late-onset gastric hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably damaging	Het

Other mutations in Iqgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Iqgap1	APN	7	80759844	missense	probably benign	0.00
IGL00984:Iqgap1	APN	7	80726798	missense	probably damaging	1.00
IGL01570:Iqgap1	APN	7	80723061	missense	possibly damaging	0.76
IGL01738:Iqgap1	APN	7	80723900	missense	possibly damaging	0.80
IGL02336:Iqgap1	APN	7	80752293	missense	probably benign	0.39
IGL02416:Iqgap1	APN	7	80726038	missense	probably damaging	1.00
IGL02597:Iqgap1	APN	7	80723885	missense	probably damaging	1.00
IGL02662:Iqgap1	APN	7	80743079	missense	probably benign
IGL03157:Iqgap1	APN	7	80751888	missense	probably benign	0.34
IGL03189:Iqgap1	APN	7	80713842	missense	probably benign	0.12
IGL03216:Iqgap1	APN	7	80743088	missense	probably benign	0.33
R0024:Iqgap1	UTSW	7	80751939	missense	probably benign
R0126:Iqgap1	UTSW	7	80738322	missense	probably benign	0.00
R0144:Iqgap1	UTSW	7	80751920	missense	probably damaging	1.00
R0325:Iqgap1	UTSW	7	80751930	missense	probably benign	0.01
R0376:Iqgap1	UTSW	7	80723879	missense	probably benign	0.01
R0650:Iqgap1	UTSW	7	80736395	missense	probably damaging	1.00
R0652:Iqgap1	UTSW	7	80736395	missense	probably damaging	1.00
R0741:Iqgap1	UTSW	7	80720987	missense	probably benign	0.03
R0751:Iqgap1	UTSW	7	80725573	unclassified	probably benign
R1067:Iqgap1	UTSW	7	80723828	missense	probably benign	0.01
R1389:Iqgap1	UTSW	7	80759756	critical splice donor site	probably null
R1473:Iqgap1	UTSW	7	80734011	missense	probably benign	0.00
R1613:Iqgap1	UTSW	7	80768457	missense	probably damaging	1.00
R1842:Iqgap1	UTSW	7	80760883	missense	probably damaging	1.00
R1909:Iqgap1	UTSW	7	80743828	missense	probably benign
R2062:Iqgap1	UTSW	7	80723979	nonsense	probably null
R2149:Iqgap1	UTSW	7	80762560	missense	probably damaging	1.00
R2153:Iqgap1	UTSW	7	80751953	missense	probably benign	0.00
R2153:Iqgap1	UTSW	7	80759903	missense	possibly damaging	0.55
R3160:Iqgap1	UTSW	7	80752338	missense	probably benign
R3162:Iqgap1	UTSW	7	80752338	missense	probably benign
R3605:Iqgap1	UTSW	7	80723789	missense	probably benign	0.02
R3709:Iqgap1	UTSW	7	80717087	missense	possibly damaging	0.87
R3935:Iqgap1	UTSW	7	80743837	missense	possibly damaging	0.54
R3979:Iqgap1	UTSW	7	80759934	missense	probably damaging	0.98
R4545:Iqgap1	UTSW	7	80762567	critical splice acceptor site	probably null
R4787:Iqgap1	UTSW	7	80735513	missense	probably damaging	1.00
R4925:Iqgap1	UTSW	7	80765317	missense	probably damaging	1.00
R4953:Iqgap1	UTSW	7	80723776	splice site	probably null
R5037:Iqgap1	UTSW	7	80734100	missense	probably damaging	1.00
R5158:Iqgap1	UTSW	7	80743068	missense	probably benign	0.02
R5183:Iqgap1	UTSW	7	80723065	missense	probably damaging	1.00
R5262:Iqgap1	UTSW	7	80726742	missense	probably benign	0.00
R5271:Iqgap1	UTSW	7	80734148	missense	probably damaging	1.00
R5289:Iqgap1	UTSW	7	80738724	missense	possibly damaging	0.88
R5359:Iqgap1	UTSW	7	80766959	missense	probably benign	0.00
R5423:Iqgap1	UTSW	7	80799862	missense	probably damaging	1.00
R5843:Iqgap1	UTSW	7	80726080	missense	probably benign	0.03
R5849:Iqgap1	UTSW	7	80803158	missense	probably benign
R6164:Iqgap1	UTSW	7	80809106	missense	unknown
R6315:Iqgap1	UTSW	7	80799890	missense	possibly damaging	0.65
R6335:Iqgap1	UTSW	7	80728024	missense	probably damaging	1.00
R6488:Iqgap1	UTSW	7	80730326	missense	probably benign	0.00
R6723:Iqgap1	UTSW	7	80723822	missense	probably benign	0.01
R6800:Iqgap1	UTSW	7	80728981	missense	possibly damaging	0.56
R6815:Iqgap1	UTSW	7	80766884	critical splice donor site	probably null
R7240:Iqgap1	UTSW	7	80759839	missense	probably benign	0.22
R7386:Iqgap1	UTSW	7	80726042	missense	probably damaging	1.00
R7387:Iqgap1	UTSW	7	80720990	missense	probably benign	0.03
R7410:Iqgap1	UTSW	7	80723030	nonsense	probably null
R7429:Iqgap1	UTSW	7	80751440	missense	probably benign	0.00
R7452:Iqgap1	UTSW	7	80760829	missense	possibly damaging	0.80
R7615:Iqgap1	UTSW	7	80730100	missense	probably damaging	1.00
R7615:Iqgap1	UTSW	7	80751346	missense	probably benign
R7726:Iqgap1	UTSW	7	80757456	missense	probably benign	0.37
R7783:Iqgap1	UTSW	7	80809059	missense	probably benign	0.01
R7785:Iqgap1	UTSW	7	80738169	missense	probably damaging	1.00
R7862:Iqgap1	UTSW	7	80743888	missense	probably benign	0.04
R8270:Iqgap1	UTSW	7	80730127	missense	probably damaging	1.00
R8556:Iqgap1	UTSW	7	80726039	missense	probably damaging	1.00
R8932:Iqgap1	UTSW	7	80751393	missense	probably benign
R9520:Iqgap1	UTSW	7	80744121	missense	probably benign
R9533:Iqgap1	UTSW	7	80734181	missense	possibly damaging	0.88
R9536:Iqgap1	UTSW	7	80809092	missense
R9730:Iqgap1	UTSW	7	80751376	missense	possibly damaging	0.63
RF004:Iqgap1	UTSW	7	80720875	missense	probably benign
RF063:Iqgap1	UTSW	7	80723751	frame shift	probably null
X0064:Iqgap1	UTSW	7	80720931	nonsense	probably null
X0067:Iqgap1	UTSW	7	80766903	missense	probably benign
Z1176:Iqgap1	UTSW	7	80768309	missense	probably benign	0.00

Posted On

2015-04-16