Mutagenetix > Incidental Mutations

Incidental Mutation 'R0144:Iqgap1'

22504

Institutional Source

Beutler Lab

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd237e, D7Ertd257e

MMRRC Submission

038429-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0144 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

80711583-80825974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80751920 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 479 (L479P)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167377
AA Change: L479P

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

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: L479P

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: ENSMUST00000205608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206896

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,605,965		probably null	Het
Acp6	T	A	3: 97,165,829		probably benign	Het
AI661453	A	T	17: 47,469,299		probably benign	Het
Aox1	A	G	1: 58,070,074	I674V	probably benign	Het
Armc2	A	T	10: 41,947,887		probably benign	Het
Atp8b1	G	C	18: 64,571,374		probably benign	Het
Baz2b	A	T	2: 59,907,495	N1823K	probably damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
Brca1	A	T	11: 101,526,121	S396T	probably damaging	Het
Btnl6	G	T	17: 34,514,020	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,827,351	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,276,203	I738T	probably damaging	Het
Ccdc58	A	T	16: 36,085,114	N92I	possibly damaging	Het
Ceacam15	G	T	7: 16,673,191	H134N	probably benign	Het
Cep170	T	C	1: 176,792,595	I46V	probably benign	Het
Cfap57	T	C	4: 118,584,705	D722G	probably damaging	Het
Col11a1	A	T	3: 114,113,594	D628V	unknown	Het
Csmd1	A	T	8: 16,391,824	V342E	probably benign	Het
Dennd1a	A	G	2: 38,126,640	V64A	probably damaging	Het
Dlec1	G	T	9: 119,142,866	G1345V	probably benign	Het
Dnah1	G	A	14: 31,267,874		probably benign	Het
Dock5	C	T	14: 67,786,286	G1142D	probably benign	Het
Etv2	C	A	7: 30,634,883	A142S	probably benign	Het
Fam110c	C	A	12: 31,074,501	T154K	unknown	Het
Fbxo17	C	G	7: 28,735,340	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,295,220	W681R	probably damaging	Het
Fig4	A	G	10: 41,258,049	Y413H	probably damaging	Het
Gab1	A	G	8: 80,785,201		probably benign	Het
Gabarapl1	T	C	6: 129,533,448	M1T	probably null	Het
Gm4763	A	G	7: 24,723,590	V101A	possibly damaging	Het
H2-M10.6	G	A	17: 36,812,241	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,962,013	D2432G	probably damaging	Het
Il13	T	C	11: 53,633,176	D60G	possibly damaging	Het
Itpr2	T	A	6: 146,327,155	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,706,156	G427S	probably benign	Het
Kcnb1	T	G	2: 167,104,547	N794H	probably damaging	Het
Klhl8	A	T	5: 103,867,938	S361R	probably benign	Het
Krt87	T	C	15: 101,438,661	Y37C	probably benign	Het
Lbp	A	T	2: 158,319,710	S231C	probably damaging	Het
Lpin2	A	G	17: 71,225,076	E142G	probably damaging	Het
Lrch4	G	A	5: 137,638,543		probably null	Het
Manea	A	G	4: 26,340,719	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,481,015	T618A	probably benign	Het
Me3	A	G	7: 89,739,872	D128G	probably damaging	Het
Mug2	A	G	6: 122,071,011		probably benign	Het
Myo9b	A	T	8: 71,346,043	Q901L	probably damaging	Het
Nalcn	T	C	14: 123,371,536	R640G	probably damaging	Het
Nalcn	C	T	14: 123,409,839		probably benign	Het
Ncor1	T	C	11: 62,392,595	N422S	probably damaging	Het
Nf1	T	A	11: 79,547,127	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,348,392	A358T	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr486	T	C	7: 108,171,971	I258V	probably benign	Het
Olfr593	A	T	7: 103,212,540	I216F	probably damaging	Het
Phlpp2	C	T	8: 109,907,513	R242W	probably damaging	Het
Pld5	T	C	1: 175,970,541	N431D	probably benign	Het
Prss28	G	A	17: 25,309,450	V16M	probably damaging	Het
Psmd2	T	A	16: 20,662,225		probably null	Het
Ptpn21	A	T	12: 98,688,609	S700T	probably benign	Het
Rasa2	A	T	9: 96,592,019	V152D	probably damaging	Het
Reln	G	T	5: 21,948,449	R2286S	probably damaging	Het
Rflnb	G	T	11: 76,024,963	P102Q	probably damaging	Het
Rin2	G	A	2: 145,876,639	V680I	probably damaging	Het
Rnf213	A	T	11: 119,479,600	K4742*	probably null	Het
Rpp40	A	T	13: 35,901,369	S143T	probably benign	Het
Rps12	A	G	10: 23,786,791	I51T	probably benign	Het
Rsf1	T	A	7: 97,636,407	W109R	probably damaging	Het
Sipa1l2	C	T	8: 125,449,876		probably null	Het
Tspan5	G	T	3: 138,898,348	V165L	probably damaging	Het
Uts2r	T	A	11: 121,161,465	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,789,016	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,579		probably benign	Het
Zmiz1	A	G	14: 25,655,247	K766R	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
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
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'- ACGGTTACTCACGCTCATGCTC -3'
(R):5'- CCAGAAACTCAGCTTTCCCTTGGTG -3'

Sequencing Primer
(F):5'- ccaaccccagcaccaac -3'
(R):5'- GGTGTCGGGGAGAGTCC -3'

Posted On

2013-04-16