Incidental Mutation 'R3522:Iqgap3'
ID 267517
Institutional Source Beutler Lab
Gene Symbol Iqgap3
Ensembl Gene ENSMUSG00000028068
Gene Name IQ motif containing GTPase activating protein 3
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R3522 (G1)
Quality Score 219
Status Validated
Chromosome 3
Chromosomal Location 87989309-88028355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87998089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 282 (A282V)
Ref Sequence ENSEMBL: ENSMUSP00000071715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071812] [ENSMUST00000195465]
AlphaFold F8VQ29
Predicted Effect probably null
Transcript: ENSMUST00000071812
AA Change: A282V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: A282V

DomainStartEndE-ValueType
CH 36 145 1.72e-14 SMART
internal_repeat_2 197 249 1.75e-5 PROSPERO
internal_repeat_1 209 418 1.31e-14 PROSPERO
low complexity region 419 438 N/A INTRINSIC
internal_repeat_1 446 651 1.31e-14 PROSPERO
internal_repeat_2 600 652 1.75e-5 PROSPERO
IQ 730 752 1.18e1 SMART
IQ 760 782 3.76e-6 SMART
IQ 790 812 3.08e-2 SMART
IQ 820 842 1.72e0 SMART
RasGAP 977 1330 1.74e-57 SMART
Blast:RasGAP 1338 1422 1e-9 BLAST
Pfam:RasGAP_C 1434 1555 2e-36 PFAM
low complexity region 1591 1602 N/A INTRINSIC
low complexity region 1615 1630 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193940
Predicted Effect possibly damaging
Transcript: ENSMUST00000195465
AA Change: A282V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142013
Gene: ENSMUSG00000028068
AA Change: A282V

DomainStartEndE-ValueType
CH 36 145 8.5e-17 SMART
internal_repeat_1 209 379 1.33e-7 PROSPERO
low complexity region 419 438 N/A INTRINSIC
internal_repeat_1 446 612 1.33e-7 PROSPERO
Meta Mutation Damage Score 0.2210 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,592,378 (GRCm39) E888G probably damaging Het
Arhgef10 T C 8: 15,004,918 (GRCm39) F150S probably damaging Het
Atp10d G T 5: 72,396,500 (GRCm39) R235L probably benign Het
Cacna1b A G 2: 24,653,055 (GRCm39) V2A possibly damaging Het
Cand1 A T 10: 119,075,102 (GRCm39) L15Q probably benign Het
Cavin3 C A 7: 105,130,350 (GRCm39) G154V probably benign Het
Ccdc73 A T 2: 104,821,830 (GRCm39) D593V probably damaging Het
Cdk5rap2 T C 4: 70,168,647 (GRCm39) K161E probably damaging Het
Chil4 A T 3: 106,111,056 (GRCm39) N279K probably benign Het
Chst13 T G 6: 90,295,245 (GRCm39) D56A probably damaging Het
Cnn1 C A 9: 22,010,664 (GRCm39) H5N probably benign Het
Cpsf4l T A 11: 113,593,319 (GRCm39) K88N probably damaging Het
Ctnnbl1 G T 2: 157,713,113 (GRCm39) probably null Het
Dnah7a A C 1: 53,657,275 (GRCm39) F834V probably damaging Het
Fbxo41 A G 6: 85,461,163 (GRCm39) S182P probably benign Het
Fkbp5 T C 17: 28,634,970 (GRCm39) T180A probably benign Het
Flg2 T A 3: 93,127,334 (GRCm39) I2082N unknown Het
Gm4968 A G 6: 127,210,725 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 116,761,747 (GRCm39) H612Q probably benign Het
Gsg1 A T 6: 135,218,251 (GRCm39) V212D probably damaging Het
Hipk1 A G 3: 103,651,430 (GRCm39) V1111A probably damaging Het
Hormad1 A T 3: 95,483,596 (GRCm39) Q136L probably benign Het
Ifi35 T A 11: 101,348,511 (GRCm39) S147R probably benign Het
Iqca1l A G 5: 24,754,624 (GRCm39) probably null Het
Jmy T C 13: 93,590,558 (GRCm39) D515G probably damaging Het
Kctd10 G A 5: 114,512,984 (GRCm39) R64C probably damaging Het
Kidins220 T C 12: 25,040,757 (GRCm39) V121A probably damaging Het
Lcn3 G A 2: 25,656,133 (GRCm39) V63M possibly damaging Het
Lmx1b T A 2: 33,529,543 (GRCm39) Y72F probably benign Het
Lrp1 T C 10: 127,389,424 (GRCm39) D3164G probably damaging Het
Mdh1b C T 1: 63,758,927 (GRCm39) V222M probably damaging Het
Mst1 T C 9: 107,958,702 (GRCm39) probably benign Het
Myo7b C A 18: 32,143,132 (GRCm39) V189F probably damaging Het
Ndc1 T C 4: 107,250,355 (GRCm39) S533P probably damaging Het
Ndrg3 T C 2: 156,785,947 (GRCm39) D164G probably damaging Het
Nol11 C T 11: 107,064,454 (GRCm39) C500Y possibly damaging Het
Nsd3 A G 8: 26,196,642 (GRCm39) N1208D probably benign Het
Nup155 C T 15: 8,186,162 (GRCm39) probably benign Het
Or5ak20 A T 2: 85,183,347 (GRCm39) C308S probably benign Het
Or6c38 A G 10: 128,929,711 (GRCm39) I44T possibly damaging Het
Or8b47 A G 9: 38,435,081 (GRCm39) T18A probably damaging Het
Or8b54 A T 9: 38,687,016 (GRCm39) D155V possibly damaging Het
Phf3 A G 1: 30,844,684 (GRCm39) L1425P probably damaging Het
Pla2r1 A G 2: 60,279,250 (GRCm39) Y777H probably damaging Het
Pld1 A G 3: 28,085,396 (GRCm39) E184G probably damaging Het
Plxna1 T C 6: 89,314,335 (GRCm39) probably null Het
Ptgfrn T C 3: 100,950,718 (GRCm39) E865G probably damaging Het
Ptpn13 G T 5: 103,737,720 (GRCm39) probably benign Het
Pygb G T 2: 150,670,473 (GRCm39) V763F probably benign Het
Ros1 A C 10: 51,967,091 (GRCm39) Y1705* probably null Het
Sec61a2 A G 2: 5,898,027 (GRCm39) F5L probably benign Het
Skint5 A G 4: 113,614,102 (GRCm39) probably null Het
Sntg2 A G 12: 30,362,566 (GRCm39) V60A probably damaging Het
Sppl2a A G 2: 126,762,242 (GRCm39) C280R possibly damaging Het
Srrm4 A C 5: 116,584,603 (GRCm39) M1R probably null Het
Sult1c2 T C 17: 54,279,043 (GRCm39) E91G probably damaging Het
Themis2 C G 4: 132,512,906 (GRCm39) R440P probably damaging Het
Tmem229a A G 6: 24,955,058 (GRCm39) L232P probably benign Het
Trappc1 T C 11: 69,215,248 (GRCm39) F43L probably damaging Het
Trappc11 A T 8: 47,951,708 (GRCm39) Y982N possibly damaging Het
Trpv6 A T 6: 41,604,339 (GRCm39) M139K probably damaging Het
Txnrd3 A G 6: 89,640,057 (GRCm39) probably null Het
Vmn1r184 T A 7: 25,967,008 (GRCm39) Y251* probably null Het
Vmn1r216 A G 13: 23,283,544 (GRCm39) N76D possibly damaging Het
Vmn1r71 C A 7: 10,481,792 (GRCm39) V233F probably benign Het
Vps13a A C 19: 16,743,857 (GRCm39) probably benign Het
Vwa5b2 A G 16: 20,420,358 (GRCm39) S756G probably damaging Het
Wdr36 T A 18: 32,994,538 (GRCm39) probably null Het
Wdr86 A G 5: 24,923,305 (GRCm39) V129A probably benign Het
Zfyve9 A G 4: 108,576,940 (GRCm39) L47S probably benign Het
Other mutations in Iqgap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Iqgap3 APN 3 88,014,867 (GRCm39) missense probably damaging 1.00
IGL01062:Iqgap3 APN 3 88,017,429 (GRCm39) missense probably benign 0.00
IGL01517:Iqgap3 APN 3 88,016,703 (GRCm39) missense probably benign 0.09
IGL01530:Iqgap3 APN 3 88,019,610 (GRCm39) critical splice acceptor site probably null
IGL01658:Iqgap3 APN 3 88,023,278 (GRCm39) missense possibly damaging 0.89
IGL02027:Iqgap3 APN 3 87,994,649 (GRCm39) missense possibly damaging 0.67
IGL02352:Iqgap3 APN 3 88,009,267 (GRCm39) missense probably benign 0.00
IGL02359:Iqgap3 APN 3 88,009,267 (GRCm39) missense probably benign 0.00
IGL02522:Iqgap3 APN 3 88,015,705 (GRCm39) missense possibly damaging 0.94
IGL02717:Iqgap3 APN 3 88,005,666 (GRCm39) missense probably benign 0.01
IGL02971:Iqgap3 APN 3 87,997,611 (GRCm39) missense probably benign 0.30
IGL03079:Iqgap3 APN 3 88,020,477 (GRCm39) missense probably benign
IGL03240:Iqgap3 APN 3 88,022,281 (GRCm39) missense probably benign 0.00
adjutant UTSW 3 88,008,834 (GRCm39) missense possibly damaging 0.51
Booster UTSW 3 88,020,435 (GRCm39) missense probably damaging 0.99
peso_ligero UTSW 3 88,020,078 (GRCm39) frame shift probably null
R0048:Iqgap3 UTSW 3 88,023,256 (GRCm39) missense probably benign 0.00
R0048:Iqgap3 UTSW 3 88,023,256 (GRCm39) missense probably benign 0.00
R0285:Iqgap3 UTSW 3 88,004,297 (GRCm39) missense probably benign 0.11
R0442:Iqgap3 UTSW 3 88,023,266 (GRCm39) missense probably damaging 0.96
R0490:Iqgap3 UTSW 3 88,021,363 (GRCm39) splice site probably benign
R0569:Iqgap3 UTSW 3 87,998,032 (GRCm39) splice site probably benign
R0747:Iqgap3 UTSW 3 88,014,810 (GRCm39) splice site probably benign
R0843:Iqgap3 UTSW 3 88,015,738 (GRCm39) missense possibly damaging 0.94
R1260:Iqgap3 UTSW 3 88,021,330 (GRCm39) missense probably benign
R1465:Iqgap3 UTSW 3 87,994,616 (GRCm39) missense probably damaging 0.99
R1465:Iqgap3 UTSW 3 87,994,616 (GRCm39) missense probably damaging 0.99
R1544:Iqgap3 UTSW 3 88,006,200 (GRCm39) missense probably benign 0.00
R1662:Iqgap3 UTSW 3 88,005,708 (GRCm39) missense probably benign 0.33
R1686:Iqgap3 UTSW 3 88,015,663 (GRCm39) splice site probably benign
R1748:Iqgap3 UTSW 3 88,021,287 (GRCm39) missense possibly damaging 0.92
R1836:Iqgap3 UTSW 3 88,015,675 (GRCm39) missense probably damaging 1.00
R1972:Iqgap3 UTSW 3 87,991,235 (GRCm39) splice site probably null
R1973:Iqgap3 UTSW 3 87,991,235 (GRCm39) splice site probably null
R2051:Iqgap3 UTSW 3 88,027,474 (GRCm39) missense probably damaging 1.00
R2314:Iqgap3 UTSW 3 88,023,338 (GRCm39) missense probably benign 0.01
R2352:Iqgap3 UTSW 3 88,011,815 (GRCm39) missense possibly damaging 0.94
R2857:Iqgap3 UTSW 3 88,014,903 (GRCm39) nonsense probably null
R2859:Iqgap3 UTSW 3 88,014,903 (GRCm39) nonsense probably null
R3435:Iqgap3 UTSW 3 88,001,911 (GRCm39) missense probably benign 0.00
R4281:Iqgap3 UTSW 3 88,006,167 (GRCm39) missense probably benign 0.19
R4283:Iqgap3 UTSW 3 88,006,167 (GRCm39) missense probably benign 0.19
R4397:Iqgap3 UTSW 3 88,011,665 (GRCm39) missense probably damaging 1.00
R4414:Iqgap3 UTSW 3 88,004,293 (GRCm39) missense probably benign
R4660:Iqgap3 UTSW 3 88,027,483 (GRCm39) missense probably damaging 1.00
R4872:Iqgap3 UTSW 3 88,020,435 (GRCm39) missense probably damaging 0.99
R4883:Iqgap3 UTSW 3 88,014,842 (GRCm39) missense probably benign
R4915:Iqgap3 UTSW 3 88,008,834 (GRCm39) missense possibly damaging 0.51
R5050:Iqgap3 UTSW 3 87,997,493 (GRCm39) missense probably damaging 1.00
R5130:Iqgap3 UTSW 3 88,016,161 (GRCm39) missense probably damaging 0.97
R5151:Iqgap3 UTSW 3 88,025,067 (GRCm39) missense possibly damaging 0.58
R5645:Iqgap3 UTSW 3 88,025,006 (GRCm39) missense probably damaging 1.00
R5706:Iqgap3 UTSW 3 88,023,215 (GRCm39) missense probably benign 0.03
R5748:Iqgap3 UTSW 3 88,016,677 (GRCm39) missense probably damaging 1.00
R5880:Iqgap3 UTSW 3 88,024,509 (GRCm39) missense possibly damaging 0.67
R5982:Iqgap3 UTSW 3 87,998,899 (GRCm39) nonsense probably null
R6006:Iqgap3 UTSW 3 87,998,854 (GRCm39) missense probably damaging 0.98
R6026:Iqgap3 UTSW 3 87,997,478 (GRCm39) missense probably damaging 1.00
R6188:Iqgap3 UTSW 3 88,006,200 (GRCm39) missense probably benign 0.00
R6211:Iqgap3 UTSW 3 87,998,822 (GRCm39) missense probably benign
R6291:Iqgap3 UTSW 3 87,997,037 (GRCm39) critical splice donor site probably null
R6344:Iqgap3 UTSW 3 87,989,401 (GRCm39) critical splice donor site probably null
R6854:Iqgap3 UTSW 3 88,004,258 (GRCm39) missense probably damaging 1.00
R6875:Iqgap3 UTSW 3 88,020,078 (GRCm39) frame shift probably null
R6877:Iqgap3 UTSW 3 88,020,078 (GRCm39) frame shift probably null
R6958:Iqgap3 UTSW 3 88,020,673 (GRCm39) missense possibly damaging 0.89
R7008:Iqgap3 UTSW 3 88,020,078 (GRCm39) frame shift probably null
R7050:Iqgap3 UTSW 3 88,006,220 (GRCm39) missense probably damaging 1.00
R7144:Iqgap3 UTSW 3 88,024,217 (GRCm39) missense probably damaging 1.00
R7170:Iqgap3 UTSW 3 88,009,370 (GRCm39) missense probably damaging 1.00
R7288:Iqgap3 UTSW 3 88,016,142 (GRCm39) missense probably damaging 1.00
R7952:Iqgap3 UTSW 3 88,005,677 (GRCm39) missense probably benign
R8008:Iqgap3 UTSW 3 88,016,770 (GRCm39) missense probably damaging 0.98
R8049:Iqgap3 UTSW 3 88,011,609 (GRCm39) missense probably damaging 1.00
R8176:Iqgap3 UTSW 3 88,001,957 (GRCm39) missense probably damaging 0.96
R8190:Iqgap3 UTSW 3 87,998,086 (GRCm39) missense probably damaging 0.98
R8772:Iqgap3 UTSW 3 87,997,144 (GRCm39) missense probably benign 0.05
R8878:Iqgap3 UTSW 3 88,020,532 (GRCm39) missense probably damaging 1.00
R8893:Iqgap3 UTSW 3 87,997,193 (GRCm39) missense probably damaging 1.00
R9072:Iqgap3 UTSW 3 88,016,773 (GRCm39) missense
R9072:Iqgap3 UTSW 3 87,998,883 (GRCm39) missense probably benign
R9073:Iqgap3 UTSW 3 88,016,773 (GRCm39) missense
R9337:Iqgap3 UTSW 3 88,023,425 (GRCm39) critical splice donor site probably null
R9489:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
R9492:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
R9593:Iqgap3 UTSW 3 88,011,657 (GRCm39) missense probably damaging 1.00
R9655:Iqgap3 UTSW 3 88,016,728 (GRCm39) missense possibly damaging 0.53
R9708:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
R9709:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
R9752:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
R9753:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
R9765:Iqgap3 UTSW 3 88,017,361 (GRCm39) missense possibly damaging 0.47
R9771:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
R9772:Iqgap3 UTSW 3 88,016,176 (GRCm39) missense probably damaging 1.00
Z1177:Iqgap3 UTSW 3 87,996,278 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCGACTGGCTTAATTGTTGG -3'
(R):5'- GGTAAGAACCTCTCTGCTGAG -3'

Sequencing Primer
(F):5'- TCCTCAGCAGGCTGGTCTTG -3'
(R):5'- TCTCTGCTGAGGCCAGAGAG -3'
Posted On 2015-02-18