Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Iqgap1'

15165

Institutional Source

Beutler Lab

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd257e, D7Ertd237e

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80361331-80453288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80401687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 473 (T473A)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

AlphaFold

Q9JKF1

Predicted Effect

probably benign
Transcript: ENSMUST00000167377
AA Change: T473A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: T473A

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

noncoding transcript
Transcript: ENSMUST00000205608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206896

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Ahctf1	G	A	1: 179,580,001 (GRCm39)	T2067M	probably damaging	Het
Akip1	T	C	7: 109,303,345 (GRCm39)	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,611,580 (GRCm39)	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,066,663 (GRCm39)	I256T	probably benign	Het
Arnt2	A	G	7: 83,933,334 (GRCm39)	V308A	probably benign	Het
Astn1	G	A	1: 158,511,785 (GRCm39)	S1209N	probably damaging	Het
Atf7ip	T	C	6: 136,576,818 (GRCm39)		probably benign	Het
Bbx	T	A	16: 50,045,281 (GRCm39)	M427L	probably benign	Het
Cadm4	T	C	7: 24,202,169 (GRCm39)	L336P	probably benign	Het
Camk2d	A	G	3: 126,591,372 (GRCm39)	M281V	probably benign	Het
Dennd2b	T	C	7: 109,123,866 (GRCm39)	H1131R	probably damaging	Het
Dll3	A	G	7: 27,999,586 (GRCm39)		probably benign	Het
Dscam	G	A	16: 96,394,585 (GRCm39)	R1906*	probably null	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,869,340 (GRCm39)	T676A	probably benign	Het
Entpd5	T	C	12: 84,420,507 (GRCm39)	M428T	probably benign	Het
Fry	T	G	5: 150,304,268 (GRCm39)	S553A	probably benign	Het
Gls2	G	A	10: 128,035,125 (GRCm39)	R86H	probably damaging	Het
Gm14340	T	A	2: 180,466,043 (GRCm39)		noncoding transcript	Het
Gm9457	A	C	8: 4,863,131 (GRCm39)		noncoding transcript	Het
Hfm1	T	C	5: 107,004,790 (GRCm39)	K1179E	probably benign	Het
Krt34	A	T	11: 99,931,863 (GRCm39)	C119S	probably benign	Het
Krt6a	A	G	15: 101,599,150 (GRCm39)		probably benign	Het
Lysmd4	A	G	7: 66,875,828 (GRCm39)	T164A	probably benign	Het
Mroh2b	T	A	15: 4,955,109 (GRCm39)	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,133,399 (GRCm39)		probably benign	Het
Plcb1	A	G	2: 135,204,345 (GRCm39)	S900G	probably benign	Het
Plxna2	T	A	1: 194,326,303 (GRCm39)	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,639,658 (GRCm39)		probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,412,583 (GRCm39)	K110E	probably benign	Het
Sin3a	T	A	9: 57,025,537 (GRCm39)		probably benign	Het
Slc24a2	T	C	4: 86,946,477 (GRCm39)		probably benign	Het
Slc6a3	A	T	13: 73,688,956 (GRCm39)		probably benign	Het
Sugct	G	A	13: 17,032,454 (GRCm39)	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,295,264 (GRCm39)	I310M	probably damaging	Het
Tpm3	C	A	3: 89,994,756 (GRCm39)		probably null	Het
Ttc27	T	C	17: 75,077,259 (GRCm39)	F385L	possibly damaging	Het
Utrn	A	G	10: 12,281,755 (GRCm39)	V3301A	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
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

2012-12-12