Mutagenetix > Incidental Mutations

Incidental Mutation 'R6335:Iqgap1'

512906

Institutional Source

Beutler Lab

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd237e, D7Ertd257e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80711583-80825974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80728024 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1284 (Y1284H)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167377
AA Change: Y1284H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: Y1284H

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (59/59)

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
Atp11a	T	C	8: 12,859,481		probably null	Het
Best3	G	T	10: 117,002,651	V205F	probably benign	Het
C1qtnf1	A	G	11: 118,448,134	H210R	probably damaging	Het
Camkv	T	C	9: 107,946,695		probably null	Het
Cdk5rap2	A	C	4: 70,266,612	D1200E	possibly damaging	Het
Cep192	T	A	18: 67,834,713	I756N	probably damaging	Het
Crocc2	A	T	1: 93,202,838	Q947L	probably benign	Het
Dcaf1	A	G	9: 106,838,646	T321A	possibly damaging	Het
Dgkz	T	C	2: 91,944,379	M87V	probably benign	Het
Dmrt2	T	A	19: 25,673,571	S40R	possibly damaging	Het
Dpep1	T	G	8: 123,200,652	L315R	probably damaging	Het
Fam221b	G	T	4: 43,665,942	T223N	possibly damaging	Het
Fasn	A	T	11: 120,815,359	V1053E	probably damaging	Het
Galc	T	C	12: 98,242,714	D227G	probably damaging	Het
Grik1	A	G	16: 87,947,906	L486P	probably damaging	Het
Grik5	A	G	7: 25,013,594	S836P	probably benign	Het
Grpel2	T	C	18: 61,719,721	K70R	possibly damaging	Het
Ipo7	A	G	7: 110,018,468	D15G	possibly damaging	Het
Lmo7	T	C	14: 101,900,636	S692P	probably damaging	Het
Mecom	A	G	3: 29,980,756	L447P	probably damaging	Het
Mtor	A	G	4: 148,465,927	D680G	probably damaging	Het
Muc16	T	A	9: 18,660,708	I172F	unknown	Het
Musk	A	G	4: 58,366,811	I476M	probably benign	Het
Myef2	T	C	2: 125,109,712	T268A	probably damaging	Het
Naip1	A	G	13: 100,426,552	S702P	probably damaging	Het
Napa	G	T	7: 16,115,637	S258I	probably benign	Het
Nfasc	T	A	1: 132,576,394	I1039F	probably damaging	Het
Nlrc5	A	G	8: 94,502,274	S1238G	probably benign	Het
Olfr1151	T	A	2: 87,857,467	C97*	probably null	Het
Olfr1495	T	C	19: 13,768,780	V146A	probably benign	Het
Olfr340	A	G	2: 36,452,722	I46V	probably benign	Het
Pacs1	G	T	19: 5,159,977	N215K	probably damaging	Het
Parp10	A	G	15: 76,242,188	S267P	probably benign	Het
Pbrm1	G	T	14: 31,084,095	C995F	probably damaging	Het
Pcdh7	A	T	5: 57,942,265		probably null	Het
Ppef2	T	C	5: 92,235,754	Y499C	probably damaging	Het
Pramef25	G	T	4: 143,949,032	T408K	probably benign	Het
Prex2	A	C	1: 11,110,320	I370L	probably benign	Het
Ptprd	A	G	4: 75,954,183	Y1350H	probably damaging	Het
Rasgrp1	T	C	2: 117,293,870	K284E	probably damaging	Het
Rexo1	A	T	10: 80,544,081	Y23N	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Sash3	C	T	X: 48,159,521	L307F	probably damaging	Homo
Scn9a	T	A	2: 66,568,264	M1L	possibly damaging	Het
Serpinb6e	C	A	13: 33,837,822	L174F	probably benign	Het
Siae	C	T	9: 37,632,981	T275I	probably benign	Het
Sptbn5	C	A	2: 120,054,419		probably benign	Het
Ss18l2	C	T	9: 121,712,606	T55I	probably damaging	Het
Taf1c	A	G	8: 119,601,779	C163R	probably damaging	Het
Tanc2	C	T	11: 105,857,556	R505W	probably damaging	Het
Tango6	C	A	8: 106,692,676	P285Q	possibly damaging	Het
Tdrd9	G	T	12: 112,041,752		probably null	Het
Tead3	A	T	17: 28,333,325	L307H	probably damaging	Het
Ticrr	A	C	7: 79,694,283		probably null	Het
Trpc4	T	C	3: 54,317,574		probably null	Het
Upb1	A	T	10: 75,428,301	T194S	probably benign	Het
Vav3	A	G	3: 109,563,196	N566S	probably benign	Het
Vmn1r196	T	A	13: 22,293,717	S175R	probably benign	Het
Zscan29	T	C	2: 121,161,436	N589D	possibly 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
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
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'- ATCACAGCAAGGCGAGATGC -3'
(R):5'- AACTGTCTCAGCATCCCCAG -3'

Sequencing Primer
(F):5'- AGATGCCTGGCCGTCCATC -3'
(R):5'- AAACACGTGGCCACTTTTCTAG -3'

Posted On

2018-04-27