Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02416:Iqgap1'

292443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd257e, D7Ertd237e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02416

Quality Score

Status

Chromosome

Chromosomal Location

80361331-80453288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80375786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1363 (L1363H)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

AlphaFold

Q9JKF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000167377
AA Change: L1363H

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

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: L1363H

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,810,282 (GRCm39)	N227S	probably null	Het
Adgrf5	T	G	17: 43,755,871 (GRCm39)		probably null	Het
Arid2	G	A	15: 96,247,936 (GRCm39)	G116D	possibly damaging	Het
Arsa	T	A	15: 89,358,991 (GRCm39)	H225L	probably damaging	Het
Atf6	T	A	1: 170,574,726 (GRCm39)	K571*	probably null	Het
Bicdl1	A	C	5: 115,801,944 (GRCm39)	L38R	probably damaging	Het
Cct4	T	C	11: 22,952,868 (GRCm39)	S515P	probably damaging	Het
Celsr3	A	C	9: 108,709,318 (GRCm39)	D1388A	probably damaging	Het
Clca3a2	T	C	3: 144,790,777 (GRCm39)	T432A	probably benign	Het
Des	T	A	1: 75,339,372 (GRCm39)		probably null	Het
Dock11	T	A	X: 35,283,739 (GRCm39)	V1119E	probably damaging	Het
Dysf	A	G	6: 84,169,896 (GRCm39)	N1763S	possibly damaging	Het
Emilin1	A	G	5: 31,075,132 (GRCm39)	S458G	possibly damaging	Het
Fhdc1	T	G	3: 84,352,535 (GRCm39)	M897L	probably benign	Het
Foxj1	T	C	11: 116,222,829 (GRCm39)	S325G	probably benign	Het
Gm5407	A	G	16: 49,117,250 (GRCm39)		noncoding transcript	Het
Gm6576	T	C	15: 27,026,073 (GRCm39)		noncoding transcript	Het
Hells	G	A	19: 38,953,071 (GRCm39)	S743N	probably benign	Het
Ighv2-9-1	A	T	12: 113,733,731 (GRCm39)	L30Q	probably damaging	Het
Lrp2	T	C	2: 69,299,977 (GRCm39)	D3025G	probably damaging	Het
Mef2d	C	T	3: 88,063,809 (GRCm39)	R79C	probably damaging	Het
Mical1	G	T	10: 41,360,806 (GRCm39)		probably null	Het
Micu2	A	T	14: 58,161,422 (GRCm39)	V300E	probably damaging	Het
Mmgt2	T	C	11: 62,555,703 (GRCm39)	L17P	probably damaging	Het
Or4p21	A	G	2: 88,277,174 (GRCm39)	I36T	probably benign	Het
Or7c19	T	A	8: 85,957,662 (GRCm39)	C179*	probably null	Het
Or7e177	A	T	9: 20,211,541 (GRCm39)	E15V	probably benign	Het
Pigb	A	G	9: 72,924,714 (GRCm39)	S482P	probably benign	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pou1f1	T	C	16: 65,328,842 (GRCm39)	I187T	probably damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rabgap1	T	C	2: 37,451,962 (GRCm39)	I954T	probably benign	Het
Scube3	T	G	17: 28,383,110 (GRCm39)	C429W	probably damaging	Het
Slco6b1	T	A	1: 96,852,058 (GRCm39)		noncoding transcript	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Tdrd6	T	A	17: 43,935,629 (GRCm39)	R1806S	probably benign	Het
Trpm8	T	A	1: 88,288,438 (GRCm39)	L860Q	probably damaging	Het
Vmn1r8	A	G	6: 57,013,605 (GRCm39)	R219G	probably damaging	Het
Wdr48	A	G	9: 119,753,826 (GRCm39)	S649G	probably damaging	Het

Other mutations in Iqgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Iqgap1	APN	7	80,409,592 (GRCm39)	missense	probably benign	0.00
IGL00984:Iqgap1	APN	7	80,376,546 (GRCm39)	missense	probably damaging	1.00
IGL01570:Iqgap1	APN	7	80,372,809 (GRCm39)	missense	possibly damaging	0.76
IGL01738:Iqgap1	APN	7	80,373,648 (GRCm39)	missense	possibly damaging	0.80
IGL02141:Iqgap1	APN	7	80,387,869 (GRCm39)	missense	probably damaging	1.00
IGL02336:Iqgap1	APN	7	80,402,041 (GRCm39)	missense	probably benign	0.39
IGL02597:Iqgap1	APN	7	80,373,633 (GRCm39)	missense	probably damaging	1.00
IGL02662:Iqgap1	APN	7	80,392,827 (GRCm39)	missense	probably benign
IGL03157:Iqgap1	APN	7	80,401,636 (GRCm39)	missense	probably benign	0.34
IGL03189:Iqgap1	APN	7	80,363,590 (GRCm39)	missense	probably benign	0.12
IGL03216:Iqgap1	APN	7	80,392,836 (GRCm39)	missense	probably benign	0.33
R0024:Iqgap1	UTSW	7	80,401,687 (GRCm39)	missense	probably benign
R0126:Iqgap1	UTSW	7	80,388,070 (GRCm39)	missense	probably benign	0.00
R0144:Iqgap1	UTSW	7	80,401,668 (GRCm39)	missense	probably damaging	1.00
R0325:Iqgap1	UTSW	7	80,401,678 (GRCm39)	missense	probably benign	0.01
R0376:Iqgap1	UTSW	7	80,373,627 (GRCm39)	missense	probably benign	0.01
R0650:Iqgap1	UTSW	7	80,386,143 (GRCm39)	missense	probably damaging	1.00
R0652:Iqgap1	UTSW	7	80,386,143 (GRCm39)	missense	probably damaging	1.00
R0741:Iqgap1	UTSW	7	80,370,735 (GRCm39)	missense	probably benign	0.03
R0751:Iqgap1	UTSW	7	80,375,321 (GRCm39)	unclassified	probably benign
R1067:Iqgap1	UTSW	7	80,373,576 (GRCm39)	missense	probably benign	0.01
R1389:Iqgap1	UTSW	7	80,409,504 (GRCm39)	critical splice donor site	probably null
R1473:Iqgap1	UTSW	7	80,383,759 (GRCm39)	missense	probably benign	0.00
R1613:Iqgap1	UTSW	7	80,418,205 (GRCm39)	missense	probably damaging	1.00
R1842:Iqgap1	UTSW	7	80,410,631 (GRCm39)	missense	probably damaging	1.00
R1909:Iqgap1	UTSW	7	80,393,576 (GRCm39)	missense	probably benign
R2062:Iqgap1	UTSW	7	80,373,727 (GRCm39)	nonsense	probably null
R2149:Iqgap1	UTSW	7	80,412,308 (GRCm39)	missense	probably damaging	1.00
R2153:Iqgap1	UTSW	7	80,409,651 (GRCm39)	missense	possibly damaging	0.55
R2153:Iqgap1	UTSW	7	80,401,701 (GRCm39)	missense	probably benign	0.00
R3160:Iqgap1	UTSW	7	80,402,086 (GRCm39)	missense	probably benign
R3162:Iqgap1	UTSW	7	80,402,086 (GRCm39)	missense	probably benign
R3605:Iqgap1	UTSW	7	80,373,537 (GRCm39)	missense	probably benign	0.02
R3709:Iqgap1	UTSW	7	80,366,835 (GRCm39)	missense	possibly damaging	0.87
R3935:Iqgap1	UTSW	7	80,393,585 (GRCm39)	missense	possibly damaging	0.54
R3979:Iqgap1	UTSW	7	80,409,682 (GRCm39)	missense	probably damaging	0.98
R4545:Iqgap1	UTSW	7	80,412,315 (GRCm39)	critical splice acceptor site	probably null
R4787:Iqgap1	UTSW	7	80,385,261 (GRCm39)	missense	probably damaging	1.00
R4925:Iqgap1	UTSW	7	80,415,065 (GRCm39)	missense	probably damaging	1.00
R4953:Iqgap1	UTSW	7	80,373,524 (GRCm39)	splice site	probably null
R5037:Iqgap1	UTSW	7	80,383,848 (GRCm39)	missense	probably damaging	1.00
R5158:Iqgap1	UTSW	7	80,392,816 (GRCm39)	missense	probably benign	0.02
R5183:Iqgap1	UTSW	7	80,372,813 (GRCm39)	missense	probably damaging	1.00
R5262:Iqgap1	UTSW	7	80,376,490 (GRCm39)	missense	probably benign	0.00
R5271:Iqgap1	UTSW	7	80,383,896 (GRCm39)	missense	probably damaging	1.00
R5289:Iqgap1	UTSW	7	80,388,472 (GRCm39)	missense	possibly damaging	0.88
R5359:Iqgap1	UTSW	7	80,416,707 (GRCm39)	missense	probably benign	0.00
R5423:Iqgap1	UTSW	7	80,449,610 (GRCm39)	missense	probably damaging	1.00
R5843:Iqgap1	UTSW	7	80,375,828 (GRCm39)	missense	probably benign	0.03
R5849:Iqgap1	UTSW	7	80,452,906 (GRCm39)	missense	probably benign
R6164:Iqgap1	UTSW	7	80,458,854 (GRCm39)	missense	unknown
R6315:Iqgap1	UTSW	7	80,449,638 (GRCm39)	missense	possibly damaging	0.65
R6335:Iqgap1	UTSW	7	80,377,772 (GRCm39)	missense	probably damaging	1.00
R6488:Iqgap1	UTSW	7	80,380,074 (GRCm39)	missense	probably benign	0.00
R6723:Iqgap1	UTSW	7	80,373,570 (GRCm39)	missense	probably benign	0.01
R6800:Iqgap1	UTSW	7	80,378,729 (GRCm39)	missense	possibly damaging	0.56
R6815:Iqgap1	UTSW	7	80,416,632 (GRCm39)	critical splice donor site	probably null
R7240:Iqgap1	UTSW	7	80,409,587 (GRCm39)	missense	probably benign	0.22
R7386:Iqgap1	UTSW	7	80,375,790 (GRCm39)	missense	probably damaging	1.00
R7387:Iqgap1	UTSW	7	80,370,738 (GRCm39)	missense	probably benign	0.03
R7410:Iqgap1	UTSW	7	80,372,778 (GRCm39)	nonsense	probably null
R7429:Iqgap1	UTSW	7	80,401,188 (GRCm39)	missense	probably benign	0.00
R7452:Iqgap1	UTSW	7	80,410,577 (GRCm39)	missense	possibly damaging	0.80
R7615:Iqgap1	UTSW	7	80,401,094 (GRCm39)	missense	probably benign
R7615:Iqgap1	UTSW	7	80,379,848 (GRCm39)	missense	probably damaging	1.00
R7726:Iqgap1	UTSW	7	80,407,204 (GRCm39)	missense	probably benign	0.37
R7783:Iqgap1	UTSW	7	80,458,807 (GRCm39)	missense	probably benign	0.01
R7785:Iqgap1	UTSW	7	80,387,917 (GRCm39)	missense	probably damaging	1.00
R7862:Iqgap1	UTSW	7	80,393,636 (GRCm39)	missense	probably benign	0.04
R8270:Iqgap1	UTSW	7	80,379,875 (GRCm39)	missense	probably damaging	1.00
R8556:Iqgap1	UTSW	7	80,375,787 (GRCm39)	missense	probably damaging	1.00
R8932:Iqgap1	UTSW	7	80,401,141 (GRCm39)	missense	probably benign
R9520:Iqgap1	UTSW	7	80,393,869 (GRCm39)	missense	probably benign
R9533:Iqgap1	UTSW	7	80,383,929 (GRCm39)	missense	possibly damaging	0.88
R9536:Iqgap1	UTSW	7	80,458,840 (GRCm39)	missense
R9730:Iqgap1	UTSW	7	80,401,124 (GRCm39)	missense	possibly damaging	0.63
RF004:Iqgap1	UTSW	7	80,370,623 (GRCm39)	missense	probably benign
RF063:Iqgap1	UTSW	7	80,373,499 (GRCm39)	frame shift	probably null
X0064:Iqgap1	UTSW	7	80,370,679 (GRCm39)	nonsense	probably null
X0067:Iqgap1	UTSW	7	80,416,651 (GRCm39)	missense	probably benign
Z1176:Iqgap1	UTSW	7	80,418,057 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16