Mutagenetix > Incidental Mutation

Incidental Mutation 'R9536:Iqgap1'

719694

Institutional Source

Beutler Lab

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd257e, D7Ertd237e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80361331-80453288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80458840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 26 (M26K)

Ref Sequence

ENSEMBL: ENSMUSP00000145556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000205304] [ENSMUST00000205813]

AlphaFold

Q9JKF1

Predicted Effect

unknown
Transcript: ENSMUST00000205304
AA Change: M18K

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,623 (GRCm39)	L259F	probably damaging	Het
Adamts6	A	C	13: 104,489,313 (GRCm39)	I389L	probably benign	Het
Adcy7	A	T	8: 89,053,026 (GRCm39)	E974V	possibly damaging	Het
Agbl3	G	T	6: 34,823,861 (GRCm39)	R847M	probably benign	Het
Ank2	T	G	3: 126,736,031 (GRCm39)	Q3284H	unknown	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bod1l	C	A	5: 41,974,305 (GRCm39)	E2336D	probably benign	Het
Ccdc18	T	C	5: 108,286,792 (GRCm39)	S109P	probably benign	Het
Ccdc62	T	C	5: 124,092,749 (GRCm39)	F578S	probably damaging	Het
Chid1	A	G	7: 141,093,755 (GRCm39)	V287A	probably benign	Het
Cyp26b1	T	G	6: 84,553,999 (GRCm39)	D206A	probably benign	Het
Dennd6a	A	T	14: 26,329,758 (GRCm39)	K334*	probably null	Het
Drd3	T	C	16: 43,637,368 (GRCm39)	V189A	probably damaging	Het
Fmn1	T	C	2: 113,309,262 (GRCm39)	I728T	unknown	Het
Frem3	G	A	8: 81,342,048 (GRCm39)	G1447D	probably benign	Het
Gck	T	C	11: 5,852,307 (GRCm39)	D344G	possibly damaging	Het
Gimap9	T	A	6: 48,654,416 (GRCm39)	M1K	probably null	Het
Glb1l3	T	C	9: 26,770,929 (GRCm39)	T46A	probably benign	Het
Gm13941	T	C	2: 110,918,861 (GRCm39)	T198A	unknown	Het
Gphn	T	G	12: 78,609,636 (GRCm39)	S327A	possibly damaging	Het
Hmcn2	T	C	2: 31,335,130 (GRCm39)	S4356P	possibly damaging	Het
Iqsec1	A	G	6: 90,666,659 (GRCm39)	Y489H	probably damaging	Het
Lars1	T	A	18: 42,376,046 (GRCm39)	R255*	probably null	Het
Lrp5	G	A	19: 3,672,672 (GRCm39)	H546Y	probably damaging	Het
Or2c1	T	A	16: 3,657,438 (GRCm39)	N200K	possibly damaging	Het
Or52a5b	A	T	7: 103,416,779 (GRCm39)	V275E	probably damaging	Het
Or5p61	T	C	7: 107,759,075 (GRCm39)	I2V	probably benign	Het
Or6c33	G	A	10: 129,853,345 (GRCm39)	M38I	probably benign	Het
Osbpl6	T	A	2: 76,416,554 (GRCm39)	C691S	probably benign	Het
Pcbp3	G	A	10: 76,599,225 (GRCm39)	L304F	possibly damaging	Het
Pramel34	G	C	5: 93,784,289 (GRCm39)	L392V	probably damaging	Het
Rpl5	T	A	5: 108,051,721 (GRCm39)	S172T	probably benign	Het
Rps2	C	T	17: 24,940,851 (GRCm39)	H297Y	unknown	Het
Scp2	A	T	4: 107,928,532 (GRCm39)	V386E	possibly damaging	Het
Sh2d5	T	A	4: 137,986,420 (GRCm39)	V381E	probably benign	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tat	T	A	8: 110,722,711 (GRCm39)	C258S	probably benign	Het
Thbs2	T	C	17: 14,910,147 (GRCm39)	N151D	probably damaging	Het
Thbs3	A	T	3: 89,124,044 (GRCm39)	I46F	possibly damaging	Het
Trpm6	A	T	19: 18,764,123 (GRCm39)	D243V	probably damaging	Het
Ttn	T	A	2: 76,739,017 (GRCm39)	N3887Y	unknown	Het
Ubap2	A	G	4: 41,195,661 (GRCm39)	S1020P	probably benign	Het
Ubtfl1	A	T	9: 18,320,537 (GRCm39)	M22L	probably benign	Het
V1rd19	A	T	7: 23,703,253 (GRCm39)	I240F	probably damaging	Het
Vwa5b2	C	T	16: 20,414,449 (GRCm39)	P275L	probably damaging	Het
Zfp386	G	A	12: 116,023,686 (GRCm39)	C468Y	probably damaging	Het
Zfp975	A	C	7: 42,312,345 (GRCm39)	H89Q	probably benign	Het
Zfyve26	T	A	12: 79,298,046 (GRCm39)	N1881I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCTGACAGATTAGAGGTAGCC -3'
(R):5'- TTTGTGGAACTTCCCTGGAG -3'

Sequencing Primer
(F):5'- GGTAGCCCATAATAATCTGGTTACAC -3'
(R):5'- TAGTTGAGTCCGGAGCCAATC -3'

Posted On

2022-07-18