Mutagenetix > Incidental Mutation

Incidental Mutation 'R5037:Iqgap1'

389572

Institutional Source

Beutler Lab

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 #

R5037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80361331-80453288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80383848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 1072 (L1072W)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

AlphaFold

Q9JKF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000167377
AA Change: L1072W

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

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: L1072W

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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
Btaf1	T	C	19: 36,980,931 (GRCm39)	V1584A	probably damaging	Het
Ccdc136	A	T	6: 29,417,122 (GRCm39)	S648C	probably damaging	Het
Ccna2	A	G	3: 36,625,152 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cenpf	T	C	1: 189,416,043 (GRCm39)	E94G	probably damaging	Het
Clic1	G	A	17: 35,274,235 (GRCm39)	V139I	probably benign	Het
Coasy	A	G	11: 100,975,648 (GRCm39)	E327G	probably damaging	Het
Col6a5	C	T	9: 105,805,337 (GRCm39)	E1190K	unknown	Het
Cyp2c70	A	G	19: 40,172,441 (GRCm39)	V67A	possibly damaging	Het
Dglucy	A	G	12: 100,801,500 (GRCm39)	S52G	probably benign	Het
Dync1h1	A	G	12: 110,607,341 (GRCm39)	N2644S	probably benign	Het
Eif4g2	A	T	7: 110,676,239 (GRCm39)	N347K	probably benign	Het
Epha10	T	C	4: 124,809,178 (GRCm39)		probably benign	Het
Epm2aip1	T	C	9: 111,101,218 (GRCm39)	F64L	probably benign	Het
Eri2	G	A	7: 119,384,897 (GRCm39)	L535F	probably benign	Het
Garin5b	T	G	7: 4,761,575 (GRCm39)	K379T	possibly damaging	Het
Gm17430	T	C	18: 9,726,561 (GRCm39)	E37G	probably benign	Het
Heatr5b	T	A	17: 79,131,939 (GRCm39)	Q388L	probably benign	Het
Htr1f	A	G	16: 64,746,291 (GRCm39)	W334R	probably damaging	Het
Icam4	A	T	9: 20,940,937 (GRCm39)	C717*	probably null	Het
Kbtbd11	G	T	8: 15,077,886 (GRCm39)	A162S	probably benign	Het
Kif13b	T	G	14: 64,996,038 (GRCm39)	Y941*	probably null	Het
Kndc1	T	C	7: 139,490,371 (GRCm39)	V291A	possibly damaging	Het
Lrrn3	A	T	12: 41,503,594 (GRCm39)	I241N	probably damaging	Het
Macf1	A	G	4: 123,349,312 (GRCm39)	S2387P	probably damaging	Het
Msh5	A	G	17: 35,251,369 (GRCm39)	L451S	possibly damaging	Het
Mthfd1	T	G	12: 76,340,914 (GRCm39)	F258V	probably damaging	Het
Ncstn	C	T	1: 171,896,193 (GRCm39)	R495H	probably damaging	Het
Or4k2	T	G	14: 50,423,745 (GRCm39)	T310P	probably benign	Het
Pkd1l3	T	A	8: 110,392,268 (GRCm39)	I1954N	probably damaging	Het
Ppox	C	A	1: 171,105,169 (GRCm39)	V340L	probably damaging	Het
Prkag1	T	C	15: 98,713,768 (GRCm39)	T21A	possibly damaging	Het
Pygo1	C	A	9: 72,852,199 (GRCm39)	H129N	probably damaging	Het
Rad9a	A	T	19: 4,247,173 (GRCm39)	C271S	probably benign	Het
Raph1	T	C	1: 60,535,381 (GRCm39)		probably null	Het
Reln	A	G	5: 22,153,510 (GRCm39)	F2265L	probably damaging	Het
Shc4	A	G	2: 125,471,647 (GRCm39)	I304T	probably damaging	Het
Slc35f3	T	A	8: 127,116,011 (GRCm39)	L313M	probably damaging	Het
Spata31g1	T	A	4: 42,972,195 (GRCm39)	H509Q	probably benign	Het
Spef1l	A	T	7: 139,558,587 (GRCm39)	S3R	possibly damaging	Het
Sycp2l	T	A	13: 41,283,337 (GRCm39)	M191K	possibly damaging	Het
Tmem132c	C	A	5: 127,630,199 (GRCm39)	Q579K	probably benign	Het
Trbj2-5	A	G	6: 41,520,394 (GRCm39)		probably benign	Het
Ttc38	A	G	15: 85,728,741 (GRCm39)	E231G	probably benign	Het
Utp20	A	G	10: 88,611,192 (GRCm39)	V1375A	probably benign	Het
Vcan	T	A	13: 89,852,096 (GRCm39)	T955S	probably damaging	Het
Vmn1r89	T	C	7: 12,953,314 (GRCm39)	C17R	possibly damaging	Het
Wnk1	A	G	6: 119,942,696 (GRCm39)		probably benign	Het
Zfp667	T	G	7: 6,308,949 (GRCm39)	I539S	possibly damaging	Het
Zfp738	T	A	13: 67,818,320 (GRCm39)	H557L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCAAATCAGAAGGAACTGC -3'
(R):5'- GGAATGCTGGGAAATGCTTC -3'

Sequencing Primer
(F):5'- TCTGCGACTCCATCTGAT -3'
(R):5'- GGGAAGACTTGACCTGTTTCCATAAG -3'

Posted On

2016-06-06