Incidental Mutation 'R4925:Iqgap1'
ID 378956
Institutional Source Beutler Lab
Gene Symbol Iqgap1
Ensembl Gene ENSMUSG00000030536
Gene Name IQ motif containing GTPase activating protein 1
Synonyms D7Ertd257e, D7Ertd237e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4925 (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 A at 80415065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 149 (I149F)
Ref Sequence ENSEMBL: ENSMUSP00000128278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167377] [ENSMUST00000205304] [ENSMUST00000205813]
AlphaFold Q9JKF1
Predicted Effect probably damaging
Transcript: ENSMUST00000167377
AA Change: I149F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: I149F

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 probably benign
Transcript: ENSMUST00000205304
Predicted Effect probably damaging
Transcript: ENSMUST00000205813
AA Change: I171F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206149
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,316,540 (GRCm39) C173* probably null Het
3425401B19Rik T A 14: 32,385,137 (GRCm39) H276L possibly damaging Het
Adam21 T G 12: 81,607,163 (GRCm39) M200L probably benign Het
Adamts3 A T 5: 89,832,182 (GRCm39) S974T probably benign Het
Adamtsl3 T A 7: 82,251,507 (GRCm39) probably null Het
Atp8b2 A G 3: 89,853,930 (GRCm39) probably null Het
Brd8 T C 18: 34,740,388 (GRCm39) T552A probably benign Het
Btaf1 A G 19: 36,988,733 (GRCm39) S1826G probably benign Het
Ccdc163 A G 4: 116,568,528 (GRCm39) E77G possibly damaging Het
Ces2g A G 8: 105,691,526 (GRCm39) R194G probably benign Het
Cip2a T C 16: 48,836,726 (GRCm39) probably null Het
Cln8 A G 8: 14,945,004 (GRCm39) H106R possibly damaging Het
Col12a1 T G 9: 79,582,077 (GRCm39) L1391F probably damaging Het
Col16a1 G A 4: 129,947,969 (GRCm39) D230N probably damaging Het
Crhbp C A 13: 95,580,318 (GRCm39) G87V possibly damaging Het
Cyp3a16 C T 5: 145,389,644 (GRCm39) M240I probably benign Het
Cyp4a14 A T 4: 115,353,133 (GRCm39) W60R possibly damaging Het
Fam47e A G 5: 92,733,149 (GRCm39) Y304C probably damaging Het
Fgfbp1 A T 5: 44,136,634 (GRCm39) D219E probably damaging Het
Fgfr2 A T 7: 129,787,002 (GRCm39) Y485N probably damaging Het
Fhdc1 C T 3: 84,360,840 (GRCm39) V363M probably damaging Het
Foxb1 T A 9: 69,667,437 (GRCm39) E31V probably damaging Het
Galnt9 T C 5: 110,692,605 (GRCm39) V13A possibly damaging Het
Ghrl T C 6: 113,693,218 (GRCm39) D77G probably damaging Het
Gpr85 A G 6: 13,835,977 (GRCm39) V309A probably benign Het
Greb1 T C 12: 16,731,472 (GRCm39) Y1622C probably damaging Het
Greb1l T A 18: 10,547,447 (GRCm39) M1555K possibly damaging Het
Grin2a T A 16: 9,487,687 (GRCm39) N404Y probably damaging Het
Gtpbp1 A C 15: 79,600,169 (GRCm39) I399L probably benign Het
Hectd4 T C 5: 121,460,753 (GRCm39) S911P possibly damaging Het
Igkc A T 6: 70,703,520 (GRCm39) K34* probably null Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lama1 C T 17: 68,101,309 (GRCm39) A1934V probably benign Het
Lrp1 C A 10: 127,410,944 (GRCm39) E1415* probably null Het
Lypd8l T A 11: 58,501,513 (GRCm39) T157S probably damaging Het
Macf1 A C 4: 123,420,445 (GRCm39) C270G probably benign Het
Marveld3 A G 8: 110,674,943 (GRCm39) V291A probably benign Het
Med23 T C 10: 24,786,645 (GRCm39) F917S probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Ncan A T 8: 70,562,604 (GRCm39) D551E probably benign Het
Or1e23 A T 11: 73,407,998 (GRCm39) I9N possibly damaging Het
Or4x6 T A 2: 89,949,121 (GRCm39) T274S probably damaging Het
Or52h2 T C 7: 103,839,387 (GRCm39) Y9C possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pla2g12a T C 3: 129,672,467 (GRCm39) W34R probably damaging Het
Plekha7 A G 7: 115,757,363 (GRCm39) F529S probably damaging Het
Potefam1 T C 2: 111,048,961 (GRCm39) K273E probably benign Het
Ppl T A 16: 4,922,846 (GRCm39) D215V probably damaging Het
Pramel15 A T 4: 144,104,502 (GRCm39) M1K probably null Het
Prdm1 T A 10: 44,316,165 (GRCm39) Y690F probably damaging Het
Prkcd T A 14: 30,329,570 (GRCm39) D124V probably damaging Het
Ptprc C A 1: 138,027,235 (GRCm39) D538Y probably benign Het
Rasl10b G A 11: 83,303,505 (GRCm39) V21M probably damaging Het
Rgsl1 T A 1: 153,688,023 (GRCm39) Y657F probably benign Het
Rrn3 T C 16: 13,617,836 (GRCm39) C360R probably damaging Het
Scarb1 T C 5: 125,374,363 (GRCm39) T257A probably damaging Het
Serpinb2 T A 1: 107,443,219 (GRCm39) M6K probably benign Het
Slco4a1 T C 2: 180,113,849 (GRCm39) Y429H probably benign Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Taar3 T A 10: 23,826,441 (GRCm39) F329Y probably damaging Het
Tardbp A T 4: 148,703,108 (GRCm39) N285K probably benign Het
Tcstv7b A G 13: 120,702,384 (GRCm39) Y60C probably damaging Het
Tnni2 A T 7: 141,996,430 (GRCm39) E4V probably benign Het
Tnpo2 A T 8: 85,776,654 (GRCm39) I454F probably damaging Het
Tpr T G 1: 150,308,316 (GRCm39) H1690Q probably benign Het
Trav18 T C 14: 54,068,577 (GRCm39) S6P probably benign Het
Trf T C 9: 103,096,445 (GRCm39) N25S probably benign Het
Vmn1r59 T C 7: 5,457,115 (GRCm39) N215S probably benign Het
Vmn2r2 T C 3: 64,044,892 (GRCm39) M1V probably null Het
Wdr64 T C 1: 175,552,268 (GRCm39) probably null Het
Wdr73 T C 7: 80,542,943 (GRCm39) S222G 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
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
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'- GGTGTTTCGGTAAGGATAATAGCC -3'
(R):5'- CCTTGCAGAGAGCTTTAGGC -3'

Sequencing Primer
(F):5'- TCGGTAAGGATAATAGCCTTCTATTC -3'
(R):5'- CCTGCAAATGTTGATGTTACTGC -3'
Posted On 2016-04-15