Incidental Mutation 'R8190:Iqgap3'
ID 635058
Institutional Source Beutler Lab
Gene Symbol Iqgap3
Ensembl Gene ENSMUSG00000028068
Gene Name IQ motif containing GTPase activating protein 3
Synonyms
MMRRC Submission 067613-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R8190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87989309-88028355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87998086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 281 (Q281L)
Ref Sequence ENSEMBL: ENSMUSP00000071715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071812] [ENSMUST00000195465]
AlphaFold F8VQ29
Predicted Effect probably damaging
Transcript: ENSMUST00000071812
AA Change: Q281L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: Q281L

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 probably damaging
Transcript: ENSMUST00000195465
AA Change: Q281L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142013
Gene: ENSMUSG00000028068
AA Change: Q281L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,706,030 (GRCm39) V113A possibly damaging Het
Adcy7 A G 8: 89,037,666 (GRCm39) M245V possibly damaging Het
Adgra1 G T 7: 139,456,034 (GRCm39) R554L probably benign Het
Agfg2 T A 5: 137,653,664 (GRCm39) M351L probably benign Het
Ahnak G A 19: 8,979,619 (GRCm39) G301D probably benign Het
Ambra1 C T 2: 91,602,697 (GRCm39) A227V possibly damaging Het
Ankrd24 T A 10: 81,474,152 (GRCm39) D166E unknown Het
Anks1 C T 17: 28,205,778 (GRCm39) P341S probably benign Het
Ano4 C T 10: 88,808,607 (GRCm39) D766N probably benign Het
Apol7e A T 15: 77,602,007 (GRCm39) T202S possibly damaging Het
Arhgap44 C A 11: 64,929,479 (GRCm39) C275F probably damaging Het
Arl6ip4 A C 5: 124,255,095 (GRCm39) K95T probably damaging Het
Bbs9 T C 9: 22,590,284 (GRCm39) L674P probably damaging Het
Bmp4 T A 14: 46,621,972 (GRCm39) M191L probably benign Het
Celsr1 A G 15: 85,787,090 (GRCm39) L2753P probably damaging Het
Cerkl T A 2: 79,163,901 (GRCm39) H473L probably benign Het
Cfap99 A T 5: 34,482,502 (GRCm39) T538S possibly damaging Het
Clock A T 5: 76,375,051 (GRCm39) V706E probably damaging Het
Cpne6 T C 14: 55,749,485 (GRCm39) M15T probably benign Het
Deaf1 T C 7: 140,894,324 (GRCm39) D351G probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Eif3j1 A T 2: 121,877,969 (GRCm39) D119V probably damaging Het
Eps8l1 C A 7: 4,474,297 (GRCm39) S195Y probably benign Het
Exosc5 T C 7: 25,365,769 (GRCm39) probably null Het
Fabp2 A T 3: 122,690,419 (GRCm39) H34L probably benign Het
Fbln5 T A 12: 101,723,555 (GRCm39) Q382L probably damaging Het
Fbxo34 C A 14: 47,767,879 (GRCm39) T464K possibly damaging Het
Fndc8 T G 11: 82,788,686 (GRCm39) V172G probably damaging Het
Frs2 C T 10: 116,910,784 (GRCm39) V193I possibly damaging Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gprin3 A G 6: 59,331,456 (GRCm39) S284P possibly damaging Het
Gsta4 T C 9: 78,105,654 (GRCm39) V28A possibly damaging Het
Herc1 T A 9: 66,325,733 (GRCm39) D1402E probably benign Het
Hipk2 A T 6: 38,795,728 (GRCm39) S180R possibly damaging Het
Hrg A T 16: 22,779,793 (GRCm39) H357L unknown Het
Htr4 A G 18: 62,570,971 (GRCm39) Q342R possibly damaging Het
Impa1 A G 3: 10,386,688 (GRCm39) S184P possibly damaging Het
Kcnh8 C T 17: 53,263,936 (GRCm39) P811L probably damaging Het
Lpin1 T C 12: 16,599,003 (GRCm39) I628V Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mfn1 A T 3: 32,622,538 (GRCm39) I599F possibly damaging Het
Nalcn T A 14: 123,837,351 (GRCm39) R4S possibly damaging Het
Nbeal2 C T 9: 110,455,158 (GRCm39) R2580Q probably benign Het
Nlrp4b A G 7: 10,448,319 (GRCm39) N174S probably damaging Het
Or3a4 T A 11: 73,945,305 (GRCm39) R93S probably benign Het
Or4q3 A T 14: 50,583,179 (GRCm39) V240D probably damaging Het
Or52a5 A T 7: 103,426,802 (GRCm39) V250D probably damaging Het
Or5p63 A G 7: 107,811,014 (GRCm39) F241L possibly damaging Het
Pabpc2 G A 18: 39,908,520 (GRCm39) R595Q probably benign Het
Pak6 C T 2: 118,520,578 (GRCm39) Q190* probably null Het
Pds5a A T 5: 65,781,341 (GRCm39) H1046Q probably damaging Het
Plin1 A G 7: 79,373,028 (GRCm39) S314P probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptpra G A 2: 30,328,351 (GRCm39) S224N probably damaging Het
Rbp1 T G 9: 98,326,709 (GRCm39) W107G probably damaging Het
Rgs7bp T C 13: 105,189,617 (GRCm39) N61D probably damaging Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Smarcc1 T A 9: 110,031,602 (GRCm39) D783E probably benign Het
Sufu G T 19: 46,389,636 (GRCm39) E86* probably null Het
Synm A T 7: 67,383,654 (GRCm39) M1336K probably benign Het
Tgm1 C T 14: 55,942,341 (GRCm39) G670D probably damaging Het
Tmc8 T G 11: 117,682,186 (GRCm39) probably null Het
Togaram1 T C 12: 65,053,686 (GRCm39) V1322A probably damaging Het
Uxs1 A T 1: 43,810,911 (GRCm39) I225K possibly damaging Het
Vil1 G T 1: 74,474,052 (GRCm39) E796* probably null Het
Vmn1r174 T C 7: 23,453,568 (GRCm39) F78S probably damaging Het
Vps13d T A 4: 144,879,321 (GRCm39) I1501F Het
Vps8 A T 16: 21,393,780 (GRCm39) T1216S possibly damaging Het
Yipf4 G T 17: 74,800,967 (GRCm39) R95L probably damaging Het
Zan T A 5: 137,465,346 (GRCm39) T470S probably damaging Het
Zfp113 G T 5: 138,143,258 (GRCm39) H331N probably damaging Het
Zfp62 A G 11: 49,106,902 (GRCm39) Y331C probably damaging Het
Zfyve26 T C 12: 79,327,610 (GRCm39) H580R 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
R3522:Iqgap3 UTSW 3 87,998,089 (GRCm39) missense probably null 0.90
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
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'- CTCTGGTAAGAACCTCTCTGC -3'

Sequencing Primer
(F):5'- TCCTCAGCAGGCTGGTCTTG -3'
(R):5'- TCTCTGCTGAGGCCAGAGAG -3'
Posted On 2020-07-13