Incidental Mutation 'R2153:Iqgap1'
ID 234507
Institutional Source Beutler Lab
Gene Symbol Iqgap1
Ensembl Gene ENSMUSG00000030536
Gene Name IQ motif containing GTPase activating protein 1
Synonyms D7Ertd257e, D7Ertd237e
MMRRC Submission 040156-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2153 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80361331-80453288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80401701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 468 (E468G)
Ref Sequence ENSEMBL: ENSMUSP00000128278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167377]
AlphaFold Q9JKF1
Predicted Effect probably benign
Transcript: ENSMUST00000167377
AA Change: E468G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: E468G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,208,959 (GRCm39) E363G probably benign Het
Abcg2 T A 6: 58,661,307 (GRCm39) probably null Het
Adgrg7 T G 16: 56,572,791 (GRCm39) I342L possibly damaging Het
Akap6 A C 12: 53,188,187 (GRCm39) D1867A probably benign Het
Ankrd17 A T 5: 90,381,918 (GRCm39) V2416D probably damaging Het
Apaf1 A G 10: 90,883,952 (GRCm39) V670A probably damaging Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Atad5 T A 11: 79,997,203 (GRCm39) D842E probably benign Het
Brd10 T C 19: 29,694,229 (GRCm39) M1755V probably benign Het
Capns1 A G 7: 29,891,765 (GRCm39) L124P probably damaging Het
Carmil1 A G 13: 24,325,656 (GRCm39) S225P probably damaging Het
Cars2 C T 8: 11,580,299 (GRCm39) A247T possibly damaging Het
Cd46 A G 1: 194,744,721 (GRCm39) I339T probably benign Het
Ceacam14 C A 7: 17,548,153 (GRCm39) T81N probably benign Het
Ceacam16 G A 7: 19,595,066 (GRCm39) P4L probably benign Het
Chek1 C A 9: 36,635,279 (GRCm39) V35F probably damaging Het
Cntnap5c A T 17: 58,362,666 (GRCm39) I340L possibly damaging Het
Col2a1 C A 15: 97,885,461 (GRCm39) A461S unknown Het
Comtd1 T C 14: 21,898,340 (GRCm39) E27G possibly damaging Het
Cyp2a12 A G 7: 26,732,042 (GRCm39) N261S probably benign Het
Dclk1 A G 3: 55,154,633 (GRCm39) Y21C probably damaging Het
Dis3l T A 9: 64,214,545 (GRCm39) N981I probably benign Het
Dlg5 A T 14: 24,187,225 (GRCm39) I1819N probably damaging Het
Elp1 T A 4: 56,779,636 (GRCm39) probably null Het
Enpep T C 3: 129,074,231 (GRCm39) N772S probably damaging Het
Erich1 T C 8: 14,128,773 (GRCm39) T56A probably benign Het
Ermp1 T C 19: 29,614,798 (GRCm39) probably null Het
Etl4 A G 2: 20,803,545 (GRCm39) E807G probably benign Het
Fat4 A T 3: 39,037,544 (GRCm39) Y3732F probably damaging Het
Fbxw18 T G 9: 109,522,438 (GRCm39) T144P probably damaging Het
Flywch1 A T 17: 23,974,624 (GRCm39) I672K probably benign Het
Foxk2 C A 11: 121,151,213 (GRCm39) A86E probably benign Het
Garem2 T C 5: 30,313,297 (GRCm39) S54P probably damaging Het
Gda A G 19: 21,374,869 (GRCm39) probably null Het
Gna15 T C 10: 81,338,738 (GRCm39) Y367C probably damaging Het
Golga3 A G 5: 110,335,856 (GRCm39) probably null Het
Greb1 T C 12: 16,749,533 (GRCm39) S1098G probably damaging Het
Hook3 C A 8: 26,560,225 (GRCm39) L333F probably damaging Het
Il6 C T 5: 30,218,502 (GRCm39) Q33* probably null Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Kcnab1 A T 3: 65,278,861 (GRCm39) I371F probably damaging Het
Kcnj10 A T 1: 172,197,455 (GRCm39) Y323F possibly damaging Het
Klk1b5 T C 7: 43,869,322 (GRCm39) probably null Het
Lmo7 A G 14: 102,157,951 (GRCm39) probably benign Het
Loxhd1 A T 18: 77,443,862 (GRCm39) T277S possibly damaging Het
Lrp5 A T 19: 3,664,339 (GRCm39) M796K probably benign Het
Med15 A T 16: 17,503,315 (GRCm39) probably null Het
Mfn1 T A 3: 32,596,975 (GRCm39) H144Q probably damaging Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Nmi T C 2: 51,842,555 (GRCm39) E179G probably damaging Het
Nrxn2 T C 19: 6,554,944 (GRCm39) I1141T probably damaging Het
Olah T C 2: 3,366,306 (GRCm39) S9G probably benign Het
Or1m1 T C 9: 18,666,391 (GRCm39) D180G probably damaging Het
Or4c106 C A 2: 88,683,128 (GRCm39) P278H probably damaging Het
Or5b120 T G 19: 13,479,852 (GRCm39) I48M probably damaging Het
Or8b49 G T 9: 38,505,707 (GRCm39) L63F probably damaging Het
Or8k22 A C 2: 86,162,872 (GRCm39) F276C probably damaging Het
Otog T A 7: 45,952,328 (GRCm39) C2591S probably damaging Het
Pdgfrb G T 18: 61,205,828 (GRCm39) V605F probably damaging Het
Pik3cb T A 9: 98,983,297 (GRCm39) K104* probably null Het
Plb1 T A 5: 32,471,433 (GRCm39) I580N probably damaging Het
Plekha2 T C 8: 25,578,413 (GRCm39) Y29C probably damaging Het
Plekha7 T A 7: 115,775,002 (GRCm39) Y213F probably damaging Het
Plin5 T C 17: 56,423,836 (GRCm39) D33G probably benign Het
Pnpla2 C A 7: 141,039,132 (GRCm39) Q371K probably damaging Het
Ppm1n A G 7: 19,012,110 (GRCm39) Y348H probably damaging Het
Ppp2r1b T A 9: 50,777,854 (GRCm39) D266E probably damaging Het
Prss23 A G 7: 89,159,119 (GRCm39) S317P probably damaging Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Ptpn12 C A 5: 21,207,466 (GRCm39) Q297H probably damaging Het
Pum1 G T 4: 130,478,802 (GRCm39) A571S probably damaging Het
Rexo1 G T 10: 80,379,943 (GRCm39) C13* probably null Het
Rhpn1 A T 15: 75,576,243 (GRCm39) M1L probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Rps6kc1 T C 1: 190,530,920 (GRCm39) Y937C probably damaging Het
Rrbp1 A G 2: 143,796,118 (GRCm39) L1200P possibly damaging Het
Ryr2 A G 13: 11,592,759 (GRCm39) I4665T possibly damaging Het
Sbno1 C A 5: 124,516,606 (GRCm39) V1256F probably benign Het
Senp5 T C 16: 31,787,692 (GRCm39) I644V probably damaging Het
Serpinb9e T A 13: 33,436,961 (GRCm39) F94I probably damaging Het
Sidt2 T C 9: 45,856,638 (GRCm39) D477G probably damaging Het
Slc30a5 A T 13: 100,940,457 (GRCm39) H619Q probably damaging Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Sned1 T A 1: 93,202,379 (GRCm39) D674E probably benign Het
Sorl1 T C 9: 41,895,788 (GRCm39) H1789R probably benign Het
Sp2 T C 11: 96,852,834 (GRCm39) D30G possibly damaging Het
Stk33 T A 7: 108,940,527 (GRCm39) N61I probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Tbcd A G 11: 121,494,457 (GRCm39) Q1006R possibly damaging Het
Tln2 T C 9: 67,209,842 (GRCm39) T432A probably damaging Het
Tnfrsf21 A G 17: 43,398,763 (GRCm39) D623G probably damaging Het
Trib2 A G 12: 15,843,830 (GRCm39) F271L probably damaging Het
Ttn A G 2: 76,810,477 (GRCm39) V17A probably benign Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Yeats2 T A 16: 19,972,916 (GRCm39) D23E probably damaging Het
Zan T A 5: 137,434,662 (GRCm39) I2214F unknown Het
Zbtb40 T C 4: 136,718,946 (GRCm39) D917G probably damaging Het
Zcchc2 C A 1: 105,949,453 (GRCm39) probably null Het
Zdhhc23 G T 16: 43,794,282 (GRCm39) Q131K probably benign Het
Zfp345 T C 2: 150,314,578 (GRCm39) T320A probably benign Het
Zfp532 A G 18: 65,757,998 (GRCm39) T644A possibly damaging Het
Other mutations in Iqgap1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTCTAAAAGCAGGGACTCATCC -3'
(R):5'- CCTGCATTGTTTGGAGCAGG -3'

Sequencing Primer
(F):5'- CTCTTCAATAAGCATGAGGCCTGG -3'
(R):5'- GGTGGAAGTGAATTTAATACCCAC -3'
Posted On 2014-10-01