Incidental Mutation 'R0126:Iqgap1'
ID 21367
Institutional Source Beutler Lab
Gene Symbol Iqgap1
Ensembl Gene ENSMUSG00000030536
Gene Name IQ motif containing GTPase activating protein 1
Synonyms D7Ertd257e, D7Ertd237e
MMRRC Submission 038411-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0126 (G1)
Quality Score 200
Status Validated
Chromosome 7
Chromosomal Location 80361331-80453288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80388070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 859 (I859T)
Ref Sequence ENSEMBL: ENSMUSP00000128278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167377]
AlphaFold Q9JKF1
Predicted Effect probably benign
Transcript: ENSMUST00000167377
AA Change: I859T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: I859T

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: ENSMUST00000205383
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.2%
  • 20x: 81.8%
Validation Efficiency 98% (102/104)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,742 (GRCm39) L1730P possibly damaging Het
Adam9 T C 8: 25,460,753 (GRCm39) N577S probably damaging Het
Add1 T C 5: 34,770,923 (GRCm39) Y316H probably benign Het
Agpat3 T C 10: 78,113,890 (GRCm39) D266G probably null Het
Aldh3a2 C A 11: 61,115,384 (GRCm39) Q524H probably benign Het
Alox12b A C 11: 69,058,297 (GRCm39) S550R probably benign Het
Ano4 T A 10: 88,788,154 (GRCm39) I753F possibly damaging Het
AW011738 T A 4: 156,288,104 (GRCm39) probably benign Het
B4galt3 C T 1: 171,103,738 (GRCm39) T103M probably damaging Het
Cabs1 C T 5: 88,128,054 (GRCm39) T235I probably damaging Het
Casq2 A G 3: 102,040,715 (GRCm39) H272R probably damaging Het
Ccdc180 T C 4: 45,912,866 (GRCm39) probably null Het
Cdh12 A T 15: 21,584,031 (GRCm39) M624L probably benign Het
Cdh5 A C 8: 104,867,314 (GRCm39) probably null Het
Col7a1 A G 9: 108,798,651 (GRCm39) probably benign Het
Cpne2 A T 8: 95,281,561 (GRCm39) I199F probably damaging Het
Crebbp A T 16: 3,901,927 (GRCm39) F2399L possibly damaging Het
Defb36 T C 2: 152,454,499 (GRCm39) C53R probably damaging Het
Degs1 T C 1: 182,107,257 (GRCm39) M1V probably null Het
Disp2 T A 2: 118,620,819 (GRCm39) F517Y probably damaging Het
Dnah5 A G 15: 28,246,465 (GRCm39) D601G probably benign Het
Dnpep G A 1: 75,289,182 (GRCm39) Q310* probably null Het
Dsg1a A G 18: 20,473,935 (GRCm39) T1003A probably benign Het
Fbrsl1 C G 5: 110,543,906 (GRCm39) probably benign Het
Foxh1 A T 15: 76,553,454 (GRCm39) L116H probably damaging Het
Gigyf2 G A 1: 87,339,597 (GRCm39) probably benign Het
Golm2 T C 2: 121,736,565 (GRCm39) probably benign Het
Gp1ba A T 11: 70,531,859 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,945,218 (GRCm39) probably benign Het
Gucy2g T G 19: 55,229,598 (GRCm39) D24A probably benign Het
Hirip3 A G 7: 126,462,614 (GRCm39) K190R probably damaging Het
Hmmr T C 11: 40,596,781 (GRCm39) N717D probably damaging Het
Il12b A T 11: 44,301,045 (GRCm39) Y187F probably damaging Het
Jmjd1c T C 10: 67,055,105 (GRCm39) L175P probably damaging Het
Klc2 T C 19: 5,162,774 (GRCm39) M242V possibly damaging Het
Klf3 T C 5: 64,979,446 (GRCm39) M96T probably benign Het
Lrrc66 G T 5: 73,764,431 (GRCm39) H871N probably benign Het
Ltn1 A T 16: 87,222,528 (GRCm39) D168E probably benign Het
Mak T C 13: 41,186,072 (GRCm39) D532G probably damaging Het
Marchf6 A G 15: 31,462,151 (GRCm39) M859T probably benign Het
Meak7 T C 8: 120,489,089 (GRCm39) D398G possibly damaging Het
Mlxipl C A 5: 135,161,177 (GRCm39) N365K probably damaging Het
Mplkip T C 13: 17,870,337 (GRCm39) S90P possibly damaging Het
Myo5c A T 9: 75,176,807 (GRCm39) H584L probably benign Het
Myt1l A G 12: 29,901,719 (GRCm39) T228A possibly damaging Het
Nxpe3 A T 16: 55,686,592 (GRCm39) Y139N possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51f2 A G 7: 102,526,347 (GRCm39) T7A probably benign Het
Or8k40 T A 2: 86,584,981 (GRCm39) I34L probably damaging Het
Pak6 C T 2: 118,520,813 (GRCm39) S268F possibly damaging Het
Parp10 G A 15: 76,127,266 (GRCm39) A57V probably damaging Het
Pik3r3 T A 4: 116,113,465 (GRCm39) D69E probably damaging Het
Polr2a T G 11: 69,638,251 (GRCm39) K105T probably damaging Het
Prdm16 A T 4: 154,413,295 (GRCm39) probably benign Het
Prepl G A 17: 85,390,670 (GRCm39) T96I probably benign Het
Ret C T 6: 118,142,956 (GRCm39) probably benign Het
Rgl3 A T 9: 21,887,108 (GRCm39) D541E probably benign Het
Rpa1 A C 11: 75,209,355 (GRCm39) Y143D probably benign Het
Rps16 T A 7: 28,050,508 (GRCm39) L47Q probably damaging Het
Sbno2 A T 10: 79,904,687 (GRCm39) probably null Het
Scube1 A T 15: 83,505,264 (GRCm39) N385K probably damaging Het
Shank2 A G 7: 143,585,092 (GRCm39) E31G probably damaging Het
Slc38a9 G T 13: 112,865,791 (GRCm39) C496F possibly damaging Het
Snap47 A G 11: 59,328,813 (GRCm39) V163A probably damaging Het
Sntg2 T C 12: 30,251,260 (GRCm39) probably benign Het
Sp7 C A 15: 102,266,895 (GRCm39) V322F probably damaging Het
Spic T C 10: 88,511,924 (GRCm39) K111E probably damaging Het
Sqor T C 2: 122,639,947 (GRCm39) probably benign Het
St6galnac1 T A 11: 116,657,410 (GRCm39) M385L probably benign Het
Synpo2 A T 3: 122,873,511 (GRCm39) S1211T possibly damaging Het
Sytl2 T A 7: 90,045,797 (GRCm39) V638E probably damaging Het
Taar1 T A 10: 23,796,445 (GRCm39) S48T probably benign Het
Tbx18 T A 9: 87,611,706 (GRCm39) D108V possibly damaging Het
Tdh C T 14: 63,735,042 (GRCm39) probably benign Het
Tlr9 T A 9: 106,102,881 (GRCm39) L724Q probably benign Het
Tmem270 T A 5: 134,931,642 (GRCm39) Y100F probably benign Het
Trim65 G C 11: 116,015,430 (GRCm39) probably benign Het
Trrap A T 5: 144,742,560 (GRCm39) K1393* probably null Het
Ttc13 A G 8: 125,410,030 (GRCm39) V523A probably damaging Het
Utrn T A 10: 12,587,219 (GRCm39) D939V probably benign Het
Vmn1r46 G T 6: 89,953,935 (GRCm39) M261I probably benign Het
Vwa5a A G 9: 38,649,103 (GRCm39) probably null Het
Zfp108 A T 7: 23,960,149 (GRCm39) T247S probably benign Het
Zfp366 A T 13: 99,365,129 (GRCm39) I97F probably benign Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C 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
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
Predicted Primers PCR Primer
(F):5'- TGGACTCCACACTCCCTGTTAGAC -3'
(R):5'- TAACCCGACTACGGACTGCACTTG -3'

Sequencing Primer
(F):5'- CTGTTAGACAAGGCTGGACTC -3'
(R):5'- GACGATTGTCTGAGCACGTT -3'
Posted On 2013-04-11