Mutagenetix > Incidental Mutation

Incidental Mutation 'R7615:Iqgap1'

588843

Institutional Source

Beutler Lab

Gene Symbol

Iqgap1

Ensembl Gene

ENSMUSG00000030536

Gene Name

IQ motif containing GTPase activating protein 1

Synonyms

D7Ertd237e, D7Ertd257e

MMRRC Submission

045683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80711583-80825974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80751346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 531 (V531A)

Ref Sequence

ENSEMBL: ENSMUSP00000128278 (fasta)

Gene Model

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

AlphaFold

Q9JKF1

Predicted Effect

probably benign
Transcript: ENSMUST00000167377
AA Change: V531A

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

SMART Domains

Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: V531A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (101/101)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,497,849 (GRCm38)	I320V	possibly damaging	Het
Adat2	A	G	10: 13,553,276 (GRCm38)	K4R	probably benign	Het
Adgb	G	A	10: 10,436,010 (GRCm38)	L226F	probably damaging	Het
Adgrb3	C	T	1: 25,098,897 (GRCm38)	V1192I	probably damaging	Het
Ahsa2	T	A	11: 23,496,750 (GRCm38)	N71I	possibly damaging	Het
Amigo2	T	G	15: 97,245,342 (GRCm38)	T400P	probably damaging	Het
Ankhd1	A	T	18: 36,656,773 (GRCm38)	Q466L		Het
Auh	T	C	13: 52,919,013 (GRCm38)	I111V	probably benign	Het
Brwd1	A	G	16: 96,033,839 (GRCm38)	F942L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,144 (GRCm38)	N262D	probably damaging	Het
Cdh9	T	A	15: 16,856,230 (GRCm38)	S785R	probably damaging	Het
Celsr3	A	G	9: 108,837,652 (GRCm38)	T2046A	possibly damaging	Het
Cep170b	T	C	12: 112,744,665 (GRCm38)	V1493A	probably damaging	Het
Cep290	C	T	10: 100,492,681 (GRCm38)	R111W	probably benign	Het
Chd2	T	A	7: 73,441,642 (GRCm38)	H1617L	probably damaging	Het
Clnk	T	C	5: 38,706,698 (GRCm38)	D404G	probably damaging	Het
Col18a1	C	T	10: 77,067,005 (GRCm38)	G795D	probably damaging	Het
Csf3r	T	A	4: 126,037,656 (GRCm38)	Y477*	probably null	Het
Ddx58	T	A	4: 40,229,653 (GRCm38)	I89F	possibly damaging	Het
Dnah17	T	A	11: 118,110,547 (GRCm38)	K857*	probably null	Het
Dnah2	T	G	11: 69,435,304 (GRCm38)	I3674L	probably damaging	Het
Dnah6	A	C	6: 73,095,206 (GRCm38)	I2431S	possibly damaging	Het
Eml6	T	A	11: 29,802,501 (GRCm38)	I971F	possibly damaging	Het
Fam135b	A	T	15: 71,463,323 (GRCm38)	I674N	probably damaging	Het
Fancc	T	A	13: 63,317,558 (GRCm38)		probably null	Het
Gabrb2	A	C	11: 42,626,742 (GRCm38)	K464Q	probably benign	Het
Gbp4	T	A	5: 105,122,982 (GRCm38)	D261V	possibly damaging	Het
Gdf3	A	G	6: 122,606,916 (GRCm38)	V164A	probably benign	Het
Gm19410	A	G	8: 35,796,359 (GRCm38)	D978G	probably damaging	Het
Gm20730	C	T	6: 43,081,774 (GRCm38)	G35R	probably null	Het
Gm9733	A	G	3: 15,320,485 (GRCm38)	V119A	probably damaging	Het
Grin2b	G	A	6: 135,923,364 (GRCm38)	T173I	probably damaging	Het
Gtf3c3	A	T	1: 54,423,572 (GRCm38)	V344E	possibly damaging	Het
Hsd3b5	A	G	3: 98,630,104 (GRCm38)	I32T	probably damaging	Het
Ido1	G	C	8: 24,593,188 (GRCm38)	L74V	probably damaging	Het
Igkv1-88	T	A	6: 68,862,373 (GRCm38)	D85V	probably damaging	Het
Il22ra1	A	G	4: 135,737,459 (GRCm38)	I159V	probably benign	Het
Itga1	T	A	13: 114,996,922 (GRCm38)	Q484L	probably null	Het
Itga11	A	T	9: 62,744,018 (GRCm38)	E281V	probably benign	Het
Kpna3	T	C	14: 61,372,962 (GRCm38)	N343S	possibly damaging	Het
Larp1b	A	G	3: 41,035,816 (GRCm38)	N133S	probably benign	Het
Larp1b	A	G	3: 41,033,534 (GRCm38)	K64E	possibly damaging	Het
Lctl	T	A	9: 64,122,110 (GRCm38)	L161H	probably damaging	Het
Mlip	A	G	9: 77,230,483 (GRCm38)	S381P	probably damaging	Het
Mroh9	A	G	1: 163,046,032 (GRCm38)	I518T	probably benign	Het
Mst1r	A	G	9: 107,920,012 (GRCm38)	Q1360R	probably benign	Het
Muc5b	T	A	7: 141,864,892 (GRCm38)	C3858*	probably null	Het
Naip1	A	T	13: 100,425,776 (GRCm38)	H960Q	probably benign	Het
Narfl	C	T	17: 25,782,129 (GRCm38)	P452S	probably benign	Het
Neo1	A	T	9: 58,884,503 (GRCm38)	S1321T	probably benign	Het
Nid2	C	A	14: 19,802,530 (GRCm38)	T1102K	probably damaging	Het
Nsmaf	C	T	4: 6,408,563 (GRCm38)	V739M	probably damaging	Het
Olfr1019	T	A	2: 85,841,657 (GRCm38)	M45L	probably benign	Het
Olfr1167	T	C	2: 88,149,518 (GRCm38)	Q167R	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,590 (GRCm38)	I156T	probably damaging	Het
Olfr727	T	G	14: 50,126,989 (GRCm38)	S137R	probably benign	Het
Olfr97	T	G	17: 37,231,450 (GRCm38)	K307Q	probably benign	Het
Osbpl9	G	A	4: 109,086,339 (GRCm38)	P159S	probably damaging	Het
Parpbp	A	G	10: 88,093,637 (GRCm38)	S450P	probably damaging	Het
Pdgfrb	A	G	18: 61,064,046 (GRCm38)	T185A	probably benign	Het
Pkd1	T	C	17: 24,593,502 (GRCm38)	V3803A	probably damaging	Het
Plau	A	T	14: 20,839,466 (GRCm38)	K200*	probably null	Het
Plce1	A	T	19: 38,524,665 (GRCm38)	Q136L	probably benign	Het
Plekhd1	C	T	12: 80,722,445 (GRCm38)	T493I	probably benign	Het
Pofut1	T	C	2: 153,259,418 (GRCm38)	S31P	unknown	Het
Prlr	T	A	15: 10,325,924 (GRCm38)	I243N	probably damaging	Het
Ptgis	A	G	2: 167,223,988 (GRCm38)	L174P	probably damaging	Het
Ralgapb	T	A	2: 158,450,270 (GRCm38)	I792K	probably damaging	Het
Retreg3	C	T	11: 101,102,980 (GRCm38)	S136N	probably damaging	Het
Rnf213	C	T	11: 119,467,297 (GRCm38)	T4291M		Het
Rtn1	A	G	12: 72,304,143 (GRCm38)	Y431H	probably damaging	Het
Rwdd3	A	G	3: 121,171,604 (GRCm38)		probably benign	Het
Scyl3	A	T	1: 163,950,338 (GRCm38)		probably null	Het
Sh2b2	G	T	5: 136,219,657 (GRCm38)	Q510K	probably damaging	Het
Sh2b3	G	A	5: 121,818,700 (GRCm38)	P333S	probably benign	Het
Slc27a6	A	T	18: 58,609,183 (GRCm38)	N490Y	probably damaging	Het
Slc45a1	C	T	4: 150,638,545 (GRCm38)	R294Q	probably benign	Het
Sorl1	A	C	9: 41,977,582 (GRCm38)	I1974S	possibly damaging	Het
Specc1l	C	A	10: 75,263,286 (GRCm38)	N857K	probably benign	Het
Speg	T	C	1: 75,429,242 (GRCm38)	L3030P	probably damaging	Het
Spsb1	A	C	4: 149,906,900 (GRCm38)	D70E	probably benign	Het
Srsf11	A	G	3: 158,016,425 (GRCm38)	S270P	unknown	Het
Ssr3	A	C	3: 65,387,792 (GRCm38)	V100G	probably damaging	Het
Synpo	G	A	18: 60,604,475 (GRCm38)	T133I	probably damaging	Het
Tas2r120	T	G	6: 132,657,810 (GRCm38)	V285G	probably benign	Het
Tenm4	T	A	7: 96,845,926 (GRCm38)	V1187D	probably damaging	Het
Tmed8	C	A	12: 87,181,388 (GRCm38)		probably null	Het
Tmem51	G	A	4: 142,037,564 (GRCm38)	T61M	probably damaging	Het
Tonsl	A	T	15: 76,630,607 (GRCm38)	D1132E	probably benign	Het
Tor1aip1	C	T	1: 156,007,584 (GRCm38)	V358I	possibly damaging	Het
Txlna	A	T	4: 129,630,319 (GRCm38)	M415K	probably damaging	Het
Tyms	T	A	5: 30,073,560 (GRCm38)		probably benign	Het
Uggt2	G	T	14: 119,089,269 (GRCm38)	L177I	probably benign	Het
Uqcrh	T	C	4: 116,069,879 (GRCm38)	H74R	probably benign	Het
Wnk1	A	T	6: 119,932,738 (GRCm38)	S33T	probably benign	Het
Zfp553	T	A	7: 127,236,016 (GRCm38)	C248S	probably damaging	Het
Zfp574	G	A	7: 25,080,576 (GRCm38)	C341Y	possibly damaging	Het
Zfp729b	T	C	13: 67,591,498 (GRCm38)	T883A	possibly damaging	Het
Zfp738	T	A	13: 67,670,203 (GRCm38)	K556N	probably damaging	Het

Other mutations in Iqgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Iqgap1	APN	7	80,759,844 (GRCm38)	missense	probably benign	0.00
IGL00984:Iqgap1	APN	7	80,726,798 (GRCm38)	missense	probably damaging	1.00
IGL01570:Iqgap1	APN	7	80,723,061 (GRCm38)	missense	possibly damaging	0.76
IGL01738:Iqgap1	APN	7	80,723,900 (GRCm38)	missense	possibly damaging	0.80
IGL02141:Iqgap1	APN	7	80,738,121 (GRCm38)	missense	probably damaging	1.00
IGL02336:Iqgap1	APN	7	80,752,293 (GRCm38)	missense	probably benign	0.39
IGL02416:Iqgap1	APN	7	80,726,038 (GRCm38)	missense	probably damaging	1.00
IGL02597:Iqgap1	APN	7	80,723,885 (GRCm38)	missense	probably damaging	1.00
IGL02662:Iqgap1	APN	7	80,743,079 (GRCm38)	missense	probably benign
IGL03157:Iqgap1	APN	7	80,751,888 (GRCm38)	missense	probably benign	0.34
IGL03189:Iqgap1	APN	7	80,713,842 (GRCm38)	missense	probably benign	0.12
IGL03216:Iqgap1	APN	7	80,743,088 (GRCm38)	missense	probably benign	0.33
R0024:Iqgap1	UTSW	7	80,751,939 (GRCm38)	missense	probably benign
R0126:Iqgap1	UTSW	7	80,738,322 (GRCm38)	missense	probably benign	0.00
R0144:Iqgap1	UTSW	7	80,751,920 (GRCm38)	missense	probably damaging	1.00
R0325:Iqgap1	UTSW	7	80,751,930 (GRCm38)	missense	probably benign	0.01
R0376:Iqgap1	UTSW	7	80,723,879 (GRCm38)	missense	probably benign	0.01
R0650:Iqgap1	UTSW	7	80,736,395 (GRCm38)	missense	probably damaging	1.00
R0652:Iqgap1	UTSW	7	80,736,395 (GRCm38)	missense	probably damaging	1.00
R0741:Iqgap1	UTSW	7	80,720,987 (GRCm38)	missense	probably benign	0.03
R0751:Iqgap1	UTSW	7	80,725,573 (GRCm38)	unclassified	probably benign
R1067:Iqgap1	UTSW	7	80,723,828 (GRCm38)	missense	probably benign	0.01
R1389:Iqgap1	UTSW	7	80,759,756 (GRCm38)	critical splice donor site	probably null
R1473:Iqgap1	UTSW	7	80,734,011 (GRCm38)	missense	probably benign	0.00
R1613:Iqgap1	UTSW	7	80,768,457 (GRCm38)	missense	probably damaging	1.00
R1842:Iqgap1	UTSW	7	80,760,883 (GRCm38)	missense	probably damaging	1.00
R1909:Iqgap1	UTSW	7	80,743,828 (GRCm38)	missense	probably benign
R2062:Iqgap1	UTSW	7	80,723,979 (GRCm38)	nonsense	probably null
R2149:Iqgap1	UTSW	7	80,762,560 (GRCm38)	missense	probably damaging	1.00
R2153:Iqgap1	UTSW	7	80,759,903 (GRCm38)	missense	possibly damaging	0.55
R2153:Iqgap1	UTSW	7	80,751,953 (GRCm38)	missense	probably benign	0.00
R3160:Iqgap1	UTSW	7	80,752,338 (GRCm38)	missense	probably benign
R3162:Iqgap1	UTSW	7	80,752,338 (GRCm38)	missense	probably benign
R3605:Iqgap1	UTSW	7	80,723,789 (GRCm38)	missense	probably benign	0.02
R3709:Iqgap1	UTSW	7	80,717,087 (GRCm38)	missense	possibly damaging	0.87
R3935:Iqgap1	UTSW	7	80,743,837 (GRCm38)	missense	possibly damaging	0.54
R3979:Iqgap1	UTSW	7	80,759,934 (GRCm38)	missense	probably damaging	0.98
R4545:Iqgap1	UTSW	7	80,762,567 (GRCm38)	critical splice acceptor site	probably null
R4787:Iqgap1	UTSW	7	80,735,513 (GRCm38)	missense	probably damaging	1.00
R4925:Iqgap1	UTSW	7	80,765,317 (GRCm38)	missense	probably damaging	1.00
R4953:Iqgap1	UTSW	7	80,723,776 (GRCm38)	splice site	probably null
R5037:Iqgap1	UTSW	7	80,734,100 (GRCm38)	missense	probably damaging	1.00
R5158:Iqgap1	UTSW	7	80,743,068 (GRCm38)	missense	probably benign	0.02
R5183:Iqgap1	UTSW	7	80,723,065 (GRCm38)	missense	probably damaging	1.00
R5262:Iqgap1	UTSW	7	80,726,742 (GRCm38)	missense	probably benign	0.00
R5271:Iqgap1	UTSW	7	80,734,148 (GRCm38)	missense	probably damaging	1.00
R5289:Iqgap1	UTSW	7	80,738,724 (GRCm38)	missense	possibly damaging	0.88
R5359:Iqgap1	UTSW	7	80,766,959 (GRCm38)	missense	probably benign	0.00
R5423:Iqgap1	UTSW	7	80,799,862 (GRCm38)	missense	probably damaging	1.00
R5843:Iqgap1	UTSW	7	80,726,080 (GRCm38)	missense	probably benign	0.03
R5849:Iqgap1	UTSW	7	80,803,158 (GRCm38)	missense	probably benign
R6164:Iqgap1	UTSW	7	80,809,106 (GRCm38)	missense	unknown
R6315:Iqgap1	UTSW	7	80,799,890 (GRCm38)	missense	possibly damaging	0.65
R6335:Iqgap1	UTSW	7	80,728,024 (GRCm38)	missense	probably damaging	1.00
R6488:Iqgap1	UTSW	7	80,730,326 (GRCm38)	missense	probably benign	0.00
R6723:Iqgap1	UTSW	7	80,723,822 (GRCm38)	missense	probably benign	0.01
R6800:Iqgap1	UTSW	7	80,728,981 (GRCm38)	missense	possibly damaging	0.56
R6815:Iqgap1	UTSW	7	80,766,884 (GRCm38)	critical splice donor site	probably null
R7240:Iqgap1	UTSW	7	80,759,839 (GRCm38)	missense	probably benign	0.22
R7386:Iqgap1	UTSW	7	80,726,042 (GRCm38)	missense	probably damaging	1.00
R7387:Iqgap1	UTSW	7	80,720,990 (GRCm38)	missense	probably benign	0.03
R7410:Iqgap1	UTSW	7	80,723,030 (GRCm38)	nonsense	probably null
R7429:Iqgap1	UTSW	7	80,751,440 (GRCm38)	missense	probably benign	0.00
R7452:Iqgap1	UTSW	7	80,760,829 (GRCm38)	missense	possibly damaging	0.80
R7615:Iqgap1	UTSW	7	80,730,100 (GRCm38)	missense	probably damaging	1.00
R7726:Iqgap1	UTSW	7	80,757,456 (GRCm38)	missense	probably benign	0.37
R7783:Iqgap1	UTSW	7	80,809,059 (GRCm38)	missense	probably benign	0.01
R7785:Iqgap1	UTSW	7	80,738,169 (GRCm38)	missense	probably damaging	1.00
R7862:Iqgap1	UTSW	7	80,743,888 (GRCm38)	missense	probably benign	0.04
R8270:Iqgap1	UTSW	7	80,730,127 (GRCm38)	missense	probably damaging	1.00
R8556:Iqgap1	UTSW	7	80,726,039 (GRCm38)	missense	probably damaging	1.00
R8932:Iqgap1	UTSW	7	80,751,393 (GRCm38)	missense	probably benign
R9520:Iqgap1	UTSW	7	80,744,121 (GRCm38)	missense	probably benign
R9533:Iqgap1	UTSW	7	80,734,181 (GRCm38)	missense	possibly damaging	0.88
R9536:Iqgap1	UTSW	7	80,809,092 (GRCm38)	missense
R9730:Iqgap1	UTSW	7	80,751,376 (GRCm38)	missense	possibly damaging	0.63
RF004:Iqgap1	UTSW	7	80,720,875 (GRCm38)	missense	probably benign
RF063:Iqgap1	UTSW	7	80,723,751 (GRCm38)	frame shift	probably null
X0064:Iqgap1	UTSW	7	80,720,931 (GRCm38)	nonsense	probably null
X0067:Iqgap1	UTSW	7	80,766,903 (GRCm38)	missense	probably benign
Z1176:Iqgap1	UTSW	7	80,768,309 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGTCAGAAGCTAACATCAGG -3'
(R):5'- TCCTTGAATAGTCATTCTGAAGGGC -3'

Sequencing Primer
(F):5'- GTGACAGATGTTTGCTGCCACAC -3'
(R):5'- AATAGTCATTCTGAAGGGCTTGGG -3'

Posted On

2019-10-24