Incidental Mutation 'R0325:Iqgap1'
ID 25728
Institutional Source Beutler Lab
Gene Symbol Iqgap1
Ensembl Gene ENSMUSG00000030536
Gene Name IQ motif containing GTPase activating protein 1
Synonyms D7Ertd257e, D7Ertd237e
MMRRC Submission 038535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0325 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80361331-80453288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80401678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 476 (W476R)
Ref Sequence ENSEMBL: ENSMUSP00000128278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167377]
AlphaFold Q9JKF1
Predicted Effect probably benign
Transcript: ENSMUST00000167377
AA Change: W476R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: W476R

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Adcyap1 A G 17: 93,510,260 (GRCm39) D96G probably benign Het
Adgrv1 C T 13: 81,688,134 (GRCm39) V1749M probably damaging Het
Adnp2 A T 18: 80,173,868 (GRCm39) N180K probably benign Het
Ahdc1 G T 4: 132,790,030 (GRCm39) A424S unknown Het
Alpk3 G A 7: 80,717,701 (GRCm39) R86H possibly damaging Het
Atf7ip A C 6: 136,537,987 (GRCm39) T49P possibly damaging Het
Atp7b G A 8: 22,518,467 (GRCm39) L124F probably benign Het
Bub1 A T 2: 127,643,314 (GRCm39) L1010* probably null Het
Cd300c C A 11: 114,850,411 (GRCm39) E131* probably null Het
Cep135 A G 5: 76,763,590 (GRCm39) K527E probably damaging Het
Cfd G T 10: 79,727,592 (GRCm39) E89* probably null Het
Crb1 A C 1: 139,168,904 (GRCm39) C871W probably damaging Het
D6Ertd527e A T 6: 87,088,277 (GRCm39) S147C unknown Het
Ddx60 A T 8: 62,436,889 (GRCm39) E946D probably benign Het
Dmrt1 G A 19: 25,523,371 (GRCm39) E241K probably benign Het
Dnah11 C G 12: 117,976,074 (GRCm39) V2782L probably benign Het
Dzip1 T C 14: 119,146,969 (GRCm39) I313M probably damaging Het
Egln3 T C 12: 54,250,298 (GRCm39) E17G probably benign Het
Eif3d A G 15: 77,852,420 (GRCm39) V42A probably damaging Het
Elapor1 A G 3: 108,368,567 (GRCm39) L808P probably damaging Het
Eogt C A 6: 97,090,916 (GRCm39) G408W probably damaging Het
Fip1l1 T A 5: 74,756,503 (GRCm39) N498K probably damaging Het
Fmn2 T A 1: 174,437,520 (GRCm39) probably null Het
Fndc3b T C 3: 27,521,579 (GRCm39) E532G probably damaging Het
Gabrb3 T C 7: 57,415,278 (GRCm39) L116P probably damaging Het
Galnt6 A T 15: 100,591,352 (GRCm39) probably null Het
Glmp G A 3: 88,232,391 (GRCm39) M1I probably null Het
Gm5478 T C 15: 101,552,761 (GRCm39) D79G probably damaging Het
Gnb1 T G 4: 155,636,140 (GRCm39) D153E probably benign Het
Grik2 T C 10: 49,116,821 (GRCm39) I86V probably damaging Het
Hdac3 C T 18: 38,074,005 (GRCm39) probably null Het
Hdgfl2 G A 17: 56,406,181 (GRCm39) R523H possibly damaging Het
Ifngr1 T A 10: 19,473,180 (GRCm39) N43K probably damaging Het
Jag1 A G 2: 136,937,365 (GRCm39) probably null Het
Kars1 T C 8: 112,734,848 (GRCm39) D46G probably benign Het
Kcnd2 A G 6: 21,216,682 (GRCm39) I129V probably damaging Het
Lama3 A C 18: 12,615,183 (GRCm39) D1369A probably damaging Het
Lars1 A T 18: 42,383,967 (GRCm39) V76E possibly damaging Het
Lgals9 T C 11: 78,854,274 (GRCm39) I337V probably damaging Het
Lrp1b T C 2: 40,741,723 (GRCm39) D3068G probably damaging Het
Med12l A G 3: 58,984,480 (GRCm39) T462A possibly damaging Het
Megf9 T A 4: 70,374,178 (GRCm39) D286V probably damaging Het
Meox1 T A 11: 101,770,227 (GRCm39) S167C probably damaging Het
Mier2 C T 10: 79,378,430 (GRCm39) probably null Het
Mrps2 C A 2: 28,359,791 (GRCm39) T216K probably damaging Het
Mto1 A T 9: 78,360,286 (GRCm39) D258V probably damaging Het
Mug1 A T 6: 121,826,801 (GRCm39) H208L probably benign Het
Myo15b T A 11: 115,775,091 (GRCm39) I751N probably damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ndrg4 T A 8: 96,437,563 (GRCm39) M17K probably damaging Het
Nfrkb T G 9: 31,325,476 (GRCm39) M973R probably benign Het
Nxph4 C T 10: 127,362,780 (GRCm39) R37H probably damaging Het
Oas1e A G 5: 120,933,460 (GRCm39) I35T probably damaging Het
Oc90 C T 15: 65,769,514 (GRCm39) probably null Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Or52d3 A T 7: 104,229,567 (GRCm39) D238V probably damaging Het
Or8j3 G A 2: 86,029,055 (GRCm39) L14F possibly damaging Het
Or8k30 A T 2: 86,339,549 (GRCm39) T249S probably benign Het
Or9a7 A T 6: 40,521,057 (GRCm39) N285K possibly damaging Het
Papola T A 12: 105,773,452 (GRCm39) I157N probably damaging Het
Pcyox1l G C 18: 61,830,964 (GRCm39) P303A possibly damaging Het
Pkdrej T C 15: 85,703,752 (GRCm39) N728S probably benign Het
Pkp4 A G 2: 59,148,873 (GRCm39) D542G probably damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Poln C T 5: 34,307,108 (GRCm39) R31H probably benign Het
Ppp3ca G A 3: 136,640,900 (GRCm39) A484T probably benign Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Pramel28 A T 4: 143,693,310 (GRCm39) V56E probably damaging Het
Prex2 G A 1: 11,270,281 (GRCm39) probably null Het
Prrc2b G T 2: 32,089,103 (GRCm39) W403L probably damaging Het
Pter A T 2: 13,005,748 (GRCm39) K307M probably damaging Het
Ptpn5 G A 7: 46,740,506 (GRCm39) S99L probably benign Het
Ptpn5 A C 7: 46,740,507 (GRCm39) S99A probably benign Het
Rpap1 A C 2: 119,602,321 (GRCm39) H674Q probably benign Het
Rph3a A T 5: 121,081,127 (GRCm39) D623E probably benign Het
Sdr9c7 G T 10: 127,734,588 (GRCm39) E25D probably benign Het
Septin9 T G 11: 117,247,458 (GRCm39) V479G probably damaging Het
Sgo2a A G 1: 58,055,856 (GRCm39) D680G probably benign Het
Sgo2b A T 8: 64,381,410 (GRCm39) I474N probably benign Het
Sgsm1 A T 5: 113,436,701 (GRCm39) I43N probably damaging Het
Shprh G A 10: 11,045,853 (GRCm39) M891I probably benign Het
Skic2 A T 17: 35,063,791 (GRCm39) Y551N possibly damaging Het
Slc12a9 A G 5: 137,321,108 (GRCm39) M469T probably damaging Het
Slc4a2 A T 5: 24,640,941 (GRCm39) I747F probably damaging Het
Slc7a6 T A 8: 106,921,149 (GRCm39) N373K probably damaging Het
Slc7a6os T C 8: 106,927,688 (GRCm39) D296G probably benign Het
Sncaip A G 18: 53,038,881 (GRCm39) T120A probably damaging Het
Sorcs1 G C 19: 50,301,480 (GRCm39) probably null Het
Spata16 A G 3: 26,721,605 (GRCm39) E42G probably damaging Het
Spata31e2 G T 1: 26,724,347 (GRCm39) Q278K possibly damaging Het
Syne2 A T 12: 76,009,415 (GRCm39) M2440L probably benign Het
Taf7l2 T C 10: 115,949,474 (GRCm39) I17M probably damaging Het
Tead2 A G 7: 44,875,179 (GRCm39) E232G probably damaging Het
Tmf1 T G 6: 97,153,465 (GRCm39) T203P possibly damaging Het
Trrap C A 5: 144,753,205 (GRCm39) H1843Q probably benign Het
Unc79 C A 12: 103,137,903 (GRCm39) Q2314K probably damaging Het
Unc80 G T 1: 66,550,040 (GRCm39) G766V probably damaging Het
Vmn1r217 A G 13: 23,298,764 (GRCm39) L46P probably damaging Het
Vmn2r80 A T 10: 78,984,773 (GRCm39) I42F possibly damaging Het
Vwa5a T C 9: 38,639,961 (GRCm39) V403A probably damaging Het
Zfp42 T C 8: 43,748,988 (GRCm39) E171G probably damaging Het
Zfp64 A T 2: 168,767,960 (GRCm39) S551T probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CATCAGCTCATCGAGATACCTGCC -3'
(R):5'- TGAACTGAGCCTGCATTGTTTGGAG -3'

Sequencing Primer
(F):5'- ccaaccccagcaccaac -3'
(R):5'- GAAGTGAATTTAATACCCACATCTCC -3'
Posted On 2013-04-16