Incidental Mutation 'R0652:Iqgap1'
ID 62295
Institutional Source Beutler Lab
Gene Symbol Iqgap1
Ensembl Gene ENSMUSG00000030536
Gene Name IQ motif containing GTPase activating protein 1
Synonyms D7Ertd257e, D7Ertd237e
MMRRC Submission 038837-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0652 (G1)
Quality Score 82
Status Not validated
Chromosome 7
Chromosomal Location 80361331-80453288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80386143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 936 (K936I)
Ref Sequence ENSEMBL: ENSMUSP00000128278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167377]
AlphaFold Q9JKF1
Predicted Effect probably damaging
Transcript: ENSMUST00000167377
AA Change: K936I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: K936I

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 0.3656 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.3%
  • 20x: 90.1%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,042,889 (GRCm39) N387D probably benign Het
Adgrg5 T A 8: 95,660,785 (GRCm39) probably null Het
Ahi1 C A 10: 20,855,360 (GRCm39) H556Q probably damaging Het
Amph A G 13: 19,270,791 (GRCm39) probably null Het
Apol7a T C 15: 77,274,055 (GRCm39) probably benign Het
Apoo-ps A T 13: 107,550,910 (GRCm39) noncoding transcript Het
Arpc1b A G 5: 145,063,670 (GRCm39) D306G probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Atm A G 9: 53,397,314 (GRCm39) V1673A probably damaging Het
B3gnt3 A T 8: 72,146,466 (GRCm39) V21E probably benign Het
Bco1 A G 8: 117,832,435 (GRCm39) D77G probably damaging Het
Brinp2 A T 1: 158,074,191 (GRCm39) H643Q probably damaging Het
Bsn A G 9: 107,982,941 (GRCm39) F3604S unknown Het
Cacna1c A G 6: 118,579,190 (GRCm39) F1753L probably damaging Het
Cd74 T C 18: 60,944,957 (GRCm39) S201P probably damaging Het
Cep192 T A 18: 67,940,336 (GRCm39) L101Q probably benign Het
Cfap161 T C 7: 83,442,484 (GRCm39) I110V probably null Het
Cnksr3 T C 10: 7,070,463 (GRCm39) D257G probably damaging Het
Col14a1 A C 15: 55,208,278 (GRCm39) E121A unknown Het
Cpne3 T C 4: 19,532,486 (GRCm39) D309G probably benign Het
Ctnnd1 A G 2: 84,433,240 (GRCm39) I609T probably benign Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Dock7 T C 4: 98,943,586 (GRCm39) D552G possibly damaging Het
Dpyd A G 3: 119,220,924 (GRCm39) D965G probably damaging Het
Efcab2 T A 1: 178,308,911 (GRCm39) M138K probably damaging Het
Eml3 T C 19: 8,910,649 (GRCm39) S204P probably damaging Het
Fbxw16 T A 9: 109,265,236 (GRCm39) S432C possibly damaging Het
Fbxw20 T G 9: 109,061,400 (GRCm39) Q116H probably damaging Het
Fech A G 18: 64,591,240 (GRCm39) S395P probably damaging Het
Fgf7 A G 2: 125,877,875 (GRCm39) K81E probably benign Het
Fras1 T A 5: 96,929,199 (GRCm39) Y3868N possibly damaging Het
Ganab A T 19: 8,892,766 (GRCm39) probably null Het
Gfra1 T C 19: 58,288,986 (GRCm39) N153S possibly damaging Het
Gja4 T A 4: 127,205,920 (GRCm39) Y281F probably benign Het
Gm5141 T C 13: 62,921,946 (GRCm39) T407A probably damaging Het
Gm5422 T C 10: 31,125,277 (GRCm39) noncoding transcript Het
Greb1 T C 12: 16,746,457 (GRCm39) Y1271C probably damaging Het
Hp1bp3 C A 4: 137,956,080 (GRCm39) N50K possibly damaging Het
Hspg2 T C 4: 137,242,033 (GRCm39) F589S probably damaging Het
Ido1 A G 8: 25,075,260 (GRCm39) F183S probably damaging Het
Kdm4a T C 4: 118,032,886 (GRCm39) D60G probably benign Het
L3mbtl4 G A 17: 69,081,286 (GRCm39) C558Y probably damaging Het
Lrrc28 T C 7: 67,267,833 (GRCm39) N98S probably damaging Het
Lypd11 T A 7: 24,423,622 (GRCm39) N14I possibly damaging Het
Map1a A G 2: 121,133,264 (GRCm39) D1360G probably benign Het
Megf10 C T 18: 57,410,796 (GRCm39) P702S probably benign Het
Met A G 6: 17,491,709 (GRCm39) E157G probably benign Het
Mff A G 1: 82,728,285 (GRCm39) D187G possibly damaging Het
Mlph A T 1: 90,870,630 (GRCm39) I514F possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Myo15b T C 11: 115,755,468 (GRCm39) V976A probably benign Het
Myo9a A G 9: 59,779,209 (GRCm39) D1655G probably benign Het
Ncoa6 C T 2: 155,233,131 (GRCm39) G2059D probably benign Het
Ndst4 A T 3: 125,405,188 (GRCm39) H481L possibly damaging Het
Nipbl A G 15: 8,332,964 (GRCm39) S2220P probably benign Het
Nom1 C A 5: 29,640,309 (GRCm39) P212T probably damaging Het
Nsd1 A G 13: 55,395,399 (GRCm39) D1000G possibly damaging Het
Nudt9 T C 5: 104,198,467 (GRCm39) F44S possibly damaging Het
Numb C T 12: 83,842,566 (GRCm39) V537I probably damaging Het
Or10j3b T A 1: 173,043,524 (GRCm39) I102N possibly damaging Het
Or13a27 A T 7: 139,925,545 (GRCm39) M119K probably damaging Het
Or51q1c A G 7: 103,652,446 (GRCm39) probably null Het
Or5b109 A T 19: 13,211,899 (GRCm39) Y95F possibly damaging Het
Or5h17 A G 16: 58,820,063 (GRCm39) N5S probably damaging Het
Or6c211 T A 10: 129,506,248 (GRCm39) T47S probably benign Het
Osgin1 A T 8: 120,172,211 (GRCm39) Y335F probably damaging Het
Pcdh10 T A 3: 45,334,199 (GRCm39) V171E probably damaging Het
Pira13 T A 7: 3,825,762 (GRCm39) Y369F probably benign Het
Plxna4 T C 6: 32,162,436 (GRCm39) N1359S probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Prr5l T C 2: 101,602,635 (GRCm39) T2A possibly damaging Het
Rbp3 T A 14: 33,680,605 (GRCm39) I1069N possibly damaging Het
Rnf144b A G 13: 47,373,983 (GRCm39) Y60C probably damaging Het
Sbno2 A T 10: 79,903,128 (GRCm39) V396E probably damaging Het
Sdk1 A G 5: 141,940,713 (GRCm39) T494A probably benign Het
Serac1 G T 17: 6,102,031 (GRCm39) D384E probably damaging Het
Sgk1 A G 10: 21,758,556 (GRCm39) N7D probably damaging Het
Sigirr A T 7: 140,672,980 (GRCm39) V69D possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
St6gal2 T C 17: 55,805,290 (GRCm39) Y396H probably benign Het
Ttn A T 2: 76,598,956 (GRCm39) F19319Y probably damaging Het
Ubr4 T A 4: 139,128,637 (GRCm39) I599N probably damaging Het
Vmn1r213 A G 13: 23,195,564 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,817,830 (GRCm39) M469K probably benign Het
Wasf1 T A 10: 40,807,902 (GRCm39) probably null Het
Wdr20rt T C 12: 65,272,689 (GRCm39) S51P probably 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
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'- ATCCCTCAGTGGAAACCAGGTAGG -3'
(R):5'- ATGGCGTGGGTTCTTCACACAG -3'

Sequencing Primer
(F):5'- TTCCCCCGGAGAAGTCAGTC -3'
(R):5'- TTCTTCACACAGGCGGGTG -3'
Posted On 2013-07-30