Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Iqgap1'

412568

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 #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

80361331-80453288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80363590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1655 (Y1655F)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

AlphaFold

Q9JKF1

Predicted Effect

probably benign
Transcript: ENSMUST00000167377
AA Change: Y1655F

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: Y1655F

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,895,814 (GRCm39)	T916A	probably benign	Het
Adam22	A	T	5: 8,161,897 (GRCm39)	Y50*	probably null	Het
Adprs	T	C	4: 126,211,087 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,988,603 (GRCm39)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,505,365 (GRCm39)	D125G	possibly damaging	Het
Bmp3	A	T	5: 99,020,579 (GRCm39)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,209,400 (GRCm39)	D697E	probably damaging	Het
Car11	A	G	7: 45,351,879 (GRCm39)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,739,391 (GRCm39)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,118,634 (GRCm39)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,660,168 (GRCm39)	I365F	possibly damaging	Het
Col20a1	C	T	2: 180,651,200 (GRCm39)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,239,058 (GRCm39)	T13S	probably benign	Het
Fam13a	T	C	6: 58,933,843 (GRCm39)	E249G	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,362,368 (GRCm39)		probably benign	Het
Fn3krp	T	C	11: 121,320,456 (GRCm39)	I267T	probably damaging	Het
Fras1	A	T	5: 96,890,930 (GRCm39)	I2820F	probably benign	Het
Fyb2	A	G	4: 104,872,939 (GRCm39)	I771V	probably damaging	Het
Gata3os	A	G	2: 9,888,634 (GRCm39)		probably benign	Het
Glis1	A	G	4: 107,472,248 (GRCm39)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,820,735 (GRCm39)	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,210,901 (GRCm39)		probably null	Het
Ift56	C	T	6: 38,402,166 (GRCm39)	P553S	probably benign	Het
Izumo1	A	G	7: 45,274,588 (GRCm39)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,268,822 (GRCm39)		probably benign	Het
Mark1	T	C	1: 184,651,890 (GRCm39)	N95S	probably damaging	Het
Mbd5	A	G	2: 49,147,763 (GRCm39)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,435,504 (GRCm39)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,938,974 (GRCm39)	S276*	probably null	Het
Ncoa2	G	A	1: 13,260,360 (GRCm39)	T105M	probably damaging	Het
Nop14	A	G	5: 34,807,972 (GRCm39)		probably benign	Het
Or2ah1	A	G	2: 85,653,902 (GRCm39)	T196A	probably benign	Het
Or2aj5	T	C	16: 19,425,341 (GRCm39)	T26A	probably benign	Het
Or5w19	G	A	2: 87,698,559 (GRCm39)	A75T	possibly damaging	Het
Otud7b	G	A	3: 96,062,795 (GRCm39)	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,469,205 (GRCm39)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,090,076 (GRCm39)	G5*	probably null	Het
Serpinb9d	T	C	13: 33,386,895 (GRCm39)	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,067,702 (GRCm39)	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452 (GRCm39)	I55T	probably benign	Het
Spata13	T	C	14: 60,929,063 (GRCm39)	I207T	possibly damaging	Het
Suco	T	C	1: 161,684,906 (GRCm39)		probably benign	Het
Svs5	A	G	2: 164,079,032 (GRCm39)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,631,936 (GRCm39)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,648,289 (GRCm39)		probably benign	Het
Vmn2r4	C	A	3: 64,296,589 (GRCm39)	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,893,672 (GRCm39)	T602I	probably benign	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
IGL02416:Iqgap1	APN	7	80,375,786 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02