Mutagenetix > Incidental Mutations

Incidental Mutation 'R0376:Iqgap1'

30752

Institutional Source

Beutler Lab

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd237e, D7Ertd257e

MMRRC Submission

038582-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0376 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80711583-80825974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80723879 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1454 (E1454G)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167377
AA Change: E1454G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: E1454G

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

probably benign
Transcript: ENSMUST00000205606

Meta Mutation Damage Score

0.0840

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.0%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	G	A	2: 173,528,327	E132K	probably benign	Het
Adam6a	T	C	12: 113,544,690	Y228H	probably damaging	Het
Als2	A	G	1: 59,215,565	F211S	probably benign	Het
Ankrd12	T	A	17: 66,053,009	Q11L	probably damaging	Het
Anxa5	T	C	3: 36,460,488	R115G	probably damaging	Het
Arhgap10	T	C	8: 77,450,824		probably benign	Het
Atp2a3	T	A	11: 72,982,702	D782E	probably damaging	Het
Bcr	G	T	10: 75,145,327	L659F	probably damaging	Het
Cacna1b	A	G	2: 24,659,003		probably benign	Het
Camp	C	T	9: 109,848,399	C122Y	probably damaging	Het
Col12a1	A	T	9: 79,693,494	S769R	probably benign	Het
Cyp2j6	T	A	4: 96,526,023	K335I	probably damaging	Het
Cyp3a11	A	C	5: 145,862,452	Y308*	probably null	Het
Flnb	G	A	14: 7,946,014		probably null	Het
Frmd4a	G	T	2: 4,572,387	M351I	probably damaging	Het
Gabrg2	C	T	11: 41,916,315	S365N	possibly damaging	Het
Ggn	T	C	7: 29,173,022	V609A	possibly damaging	Het
H60c	T	C	10: 3,260,435		probably benign	Het
Hexdc	T	A	11: 121,218,165		probably benign	Het
Igsf9b	A	G	9: 27,334,582	T1282A	probably benign	Het
Ikzf4	T	C	10: 128,632,756	N618S	probably benign	Het
Ints14	A	G	9: 64,983,990	K418E	probably damaging	Het
Kif13b	T	C	14: 64,757,404		probably benign	Het
Krt71	A	C	15: 101,738,070	F328C	probably damaging	Het
Lama2	T	C	10: 27,015,546	T2524A	possibly damaging	Het
Mfn2	C	T	4: 147,885,526	V363I	probably benign	Het
Mkln1	A	T	6: 31,478,018	D496V	probably benign	Het
Olfr450	A	T	6: 42,818,292	M274L	probably benign	Het
Patj	T	A	4: 98,568,987	I1242N	probably damaging	Het
Pcnx	C	T	12: 81,974,579		probably benign	Het
Plcb2	T	C	2: 118,717,240	E502G	probably damaging	Het
Plppr4	G	T	3: 117,323,091	H314Q	probably benign	Het
Prkcsh	A	G	9: 22,010,251		probably benign	Het
Prr14	C	T	7: 127,476,643	H181Y	probably benign	Het
Pus3	A	T	9: 35,566,422	M317L	possibly damaging	Het
Pwwp2a	T	A	11: 43,704,672	D221E	probably benign	Het
Rbm15	T	C	3: 107,330,938	S715G	probably benign	Het
Rbm28	A	G	6: 29,158,928		probably benign	Het
Rhobtb2	A	T	14: 69,796,735	V347E	probably benign	Het
Rimbp2	C	T	5: 128,803,861	R161Q	probably damaging	Het
Scgb1b27	C	T	7: 34,021,897	T70I	possibly damaging	Het
Slc40a1	T	C	1: 45,912,491		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spaca9	A	G	2: 28,693,660	V104A	probably benign	Het
Spag7	T	C	11: 70,669,190		probably benign	Het
Sugp1	A	G	8: 70,052,638	D85G	probably damaging	Het
Sun1	A	G	5: 139,226,699		probably benign	Het
Tcp11l1	C	A	2: 104,697,505		probably benign	Het
Tead3	A	C	17: 28,341,365	D88E	probably damaging	Het
Tecpr1	A	T	5: 144,207,476	V636E	possibly damaging	Het
Tldc2	T	C	2: 157,095,305	W147R	probably damaging	Het
Tmem161b	A	G	13: 84,292,383	T125A	probably benign	Het
Trrap	A	G	5: 144,816,339	M1825V	probably benign	Het
Ttbk2	A	G	2: 120,777,581	F186L	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Zc3h7a	T	C	16: 11,156,202	M240V	probably benign	Het
Zc3hc1	G	C	6: 30,372,790	S351W	probably damaging	Het
Zfp366	T	C	13: 99,234,251	M493T	probably benign	Het
Zfp93	C	T	7: 24,275,861	P424S	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
IGL02141:Iqgap1	APN	7	80738121	missense	probably damaging	1.00
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
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
R7945:Iqgap1	UTSW	7	80743888	missense	probably benign	0.04
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

Predicted Primers

PCR Primer
(F):5'- TCTAGTAAACGAAGGCTGTCTCCCC -3'
(R):5'- GACATTGTAGCTCGGCATCCTCTC -3'

Sequencing Primer
(F):5'- GAAGGCTGTCTCCCCATTAATTTAG -3'
(R):5'- AGCCACAGATGTGCTTTGC -3'

Posted On

2013-04-24