Mutagenetix > Incidental Mutation

Incidental Mutation 'R1067:Iqgap1'

86049

Institutional Source

Beutler Lab

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd257e, D7Ertd237e

MMRRC Submission

039153-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80361331-80453288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80373576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1471 (T1471M)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

AlphaFold

Q9JKF1

Predicted Effect

probably benign
Transcript: ENSMUST00000167377
AA Change: T1471M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: T1471M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.7%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,957,018 (GRCm39)		probably benign	Het
Adam24	T	A	8: 41,133,793 (GRCm39)	C420*	probably null	Het
Atp12a	G	A	14: 56,610,893 (GRCm39)	G346S	probably damaging	Het
Bpifa3	A	T	2: 153,979,529 (GRCm39)	Q218L	probably damaging	Het
Cntrl	T	C	2: 35,039,034 (GRCm39)		probably benign	Het
Defb41	A	G	1: 18,335,248 (GRCm39)		probably null	Het
Edc4	C	A	8: 106,617,637 (GRCm39)	T1094K	probably damaging	Het
Exoc4	T	A	6: 33,895,359 (GRCm39)	I792N	possibly damaging	Het
G3bp2	A	T	5: 92,211,187 (GRCm39)		probably benign	Het
Herc6	T	A	6: 57,639,204 (GRCm39)	N888K	probably damaging	Het
Kpna6	G	T	4: 129,541,896 (GRCm39)	H500Q	probably benign	Het
Krt78	G	A	15: 101,854,896 (GRCm39)	Q972*	probably null	Het
Krtap9-5	T	A	11: 99,839,589 (GRCm39)	C97S	unknown	Het
Mapk10	T	A	5: 103,139,723 (GRCm39)		probably benign	Het
Mybphl	A	G	3: 108,272,319 (GRCm39)	T3A	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Oca2	A	G	7: 55,966,141 (GRCm39)	I378V	probably damaging	Het
Or7a39	T	A	10: 78,715,517 (GRCm39)	C170*	probably null	Het
Pax6	C	A	2: 105,510,646 (GRCm39)	Q2K	probably benign	Het
Plxna2	C	A	1: 194,462,818 (GRCm39)		probably null	Het
Ppp1r13b	A	G	12: 111,801,550 (GRCm39)	L378P	probably damaging	Het
Prkdc	G	A	16: 15,570,646 (GRCm39)	E2310K	probably damaging	Het
Pth2r	G	A	1: 65,411,507 (GRCm39)	G348E	possibly damaging	Het
Rarb	T	C	14: 16,436,769 (GRCm38)	I251V	probably damaging	Het
Rasa2	A	G	9: 96,434,376 (GRCm39)	L637P	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Syt1	A	T	10: 108,472,523 (GRCm39)	D120E	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmbim1	A	G	1: 74,329,905 (GRCm39)		probably benign	Het
Tnfrsf25	G	A	4: 152,202,745 (GRCm39)	C191Y	probably damaging	Het
Tnn	T	C	1: 159,952,968 (GRCm39)	K691E	probably damaging	Het
Trim7	T	A	11: 48,728,646 (GRCm39)	V98E	probably damaging	Het
Tspan3	A	G	9: 56,068,104 (GRCm39)	F15L	probably benign	Het
Uap1l1	A	G	2: 25,252,759 (GRCm39)	L427S	probably damaging	Het
Upf1	A	C	8: 70,791,053 (GRCm39)	M574R	probably damaging	Het
Ush2a	T	A	1: 188,282,404 (GRCm39)	V1931E	probably benign	Het
Zfp3	T	C	11: 70,663,411 (GRCm39)	S457P	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
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

Predicted Primers

PCR Primer
(F):5'- TCTAGTAAACGAAGGCTGTCTCCCC -3'
(R):5'- AGGACATTGTAGCTCGGCATCCTC -3'

Sequencing Primer
(F):5'- GAAGGCTGTCTCCCCATTAATTTAG -3'
(R):5'- AGCCACAGATGTGCTTTGC -3'

Posted On

2013-11-18