Incidental Mutation 'R0285:Iqgap3'
ID 24652
Institutional Source Beutler Lab
Gene Symbol Iqgap3
Ensembl Gene ENSMUSG00000028068
Gene Name IQ motif containing GTPase activating protein 3
Synonyms
MMRRC Submission 038506-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R0285 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87989309-88028355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88004297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 461 (C461F)
Ref Sequence ENSEMBL: ENSMUSP00000071715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071812] [ENSMUST00000195465]
AlphaFold F8VQ29
Predicted Effect probably benign
Transcript: ENSMUST00000071812
AA Change: C461F

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: C461F

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 benign
Transcript: ENSMUST00000195465
AA Change: C461F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142013
Gene: ENSMUSG00000028068
AA Change: C461F

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy3 A G 19: 4,038,193 (GRCm39) E162G probably benign Het
Angptl1 T C 1: 156,672,785 (GRCm39) S204P probably benign Het
Atf6b C T 17: 34,869,370 (GRCm39) probably benign Het
Card11 G A 5: 140,872,856 (GRCm39) S619F probably damaging Het
Ccdc192 G A 18: 57,666,937 (GRCm39) G5S probably damaging Het
Ccl11 G A 11: 81,953,084 (GRCm39) V81I probably damaging Het
Cds1 T C 5: 101,944,904 (GRCm39) I126T probably damaging Het
Chd1 A G 17: 17,594,942 (GRCm39) probably benign Het
Cndp1 C A 18: 84,636,363 (GRCm39) V384F possibly damaging Het
Cuta A G 17: 27,158,423 (GRCm39) probably null Het
Diaph3 G A 14: 87,352,460 (GRCm39) T47I possibly damaging Het
Dop1a A T 9: 86,394,692 (GRCm39) S598C probably damaging Het
Dsp A G 13: 38,356,770 (GRCm39) M217V probably benign Het
Entrep1 G A 19: 23,956,749 (GRCm39) probably benign Het
Esyt1 T A 10: 128,348,087 (GRCm39) I898F possibly damaging Het
Fcsk G C 8: 111,620,349 (GRCm39) H235Q probably benign Het
Fgd3 A T 13: 49,417,424 (GRCm39) W680R possibly damaging Het
Folh1 A G 7: 86,391,373 (GRCm39) probably benign Het
Gadl1 C A 9: 115,859,806 (GRCm39) probably benign Het
Garem1 A G 18: 21,262,669 (GRCm39) M715T probably benign Het
Gpd2 A T 2: 57,228,967 (GRCm39) D257V probably benign Het
Hdac7 A G 15: 97,696,103 (GRCm39) probably null Het
Heatr5b A G 17: 79,115,882 (GRCm39) M858T probably benign Het
Inpp4b A T 8: 82,761,145 (GRCm39) probably benign Het
Lamb1 C A 12: 31,376,644 (GRCm39) C559* probably null Het
Lratd2 T C 15: 60,694,816 (GRCm39) H310R probably benign Het
Lrrc31 T C 3: 30,739,097 (GRCm39) N308S probably benign Het
Ly75 T C 2: 60,148,663 (GRCm39) Y1222C probably damaging Het
Map3k10 C A 7: 27,373,325 (GRCm39) R42L probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mmp11 T C 10: 75,761,502 (GRCm39) Y366C probably damaging Het
N4bp2 T A 5: 65,963,902 (GRCm39) D650E probably benign Het
Ncoa6 T C 2: 155,257,621 (GRCm39) M641V probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nol4l G A 2: 153,325,773 (GRCm39) probably benign Het
Notch1 T G 2: 26,350,873 (GRCm39) D2089A possibly damaging Het
Or10q3 A G 19: 11,848,502 (GRCm39) L26P probably damaging Het
Or13c7 G A 4: 43,854,398 (GRCm39) V30M possibly damaging Het
Or52h2 A T 7: 103,838,531 (GRCm39) Y294* probably null Het
Or5b24 A T 19: 12,912,536 (GRCm39) M145L probably benign Het
Or5l13 A G 2: 87,780,475 (GRCm39) I34T probably damaging Het
Or5p68 A G 7: 107,945,706 (GRCm39) S161P probably benign Het
Or8d23 T A 9: 38,842,070 (GRCm39) I201N possibly damaging Het
Otof C T 5: 30,536,877 (GRCm39) probably null Het
Paox T C 7: 139,709,053 (GRCm39) F324L probably damaging Het
Pycr1 A T 11: 120,531,142 (GRCm39) I277N probably benign Het
R3hcc1l A T 19: 42,564,568 (GRCm39) H627L probably damaging Het
Rab21 G A 10: 115,126,768 (GRCm39) S193L probably benign Het
Ralgds T G 2: 28,440,581 (GRCm39) probably null Het
Rbm42 A G 7: 30,345,265 (GRCm39) S169P possibly damaging Het
Rfpl4 A G 7: 5,113,377 (GRCm39) V262A probably benign Het
Rhobtb3 A G 13: 76,025,628 (GRCm39) I496T possibly damaging Het
Rnf31 G A 14: 55,838,846 (GRCm39) A901T probably damaging Het
Ryr2 T C 13: 11,731,863 (GRCm39) D2359G probably damaging Het
Sgo2b A C 8: 64,381,823 (GRCm39) Y336* probably null Het
Slc16a7 T A 10: 125,130,500 (GRCm39) I62L probably benign Het
Slc22a21 A T 11: 53,850,022 (GRCm39) probably benign Het
Slc25a21 A G 12: 56,904,810 (GRCm39) probably null Het
Slc5a4b T C 10: 75,898,117 (GRCm39) I532M probably damaging Het
Spata31f1a G A 4: 42,850,236 (GRCm39) T640M probably benign Het
Srrm4 C A 5: 116,605,848 (GRCm39) probably benign Het
Stxbp1 C A 2: 32,713,554 (GRCm39) E27D probably benign Het
Sult2a5 T A 7: 13,362,685 (GRCm39) Y131N probably damaging Het
Svopl T C 6: 37,961,457 (GRCm39) Q492R probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem87a A G 2: 120,224,905 (GRCm39) S119P probably benign Het
Tmprss11c A G 5: 86,419,289 (GRCm39) L90P probably damaging Het
Tmprss6 T A 15: 78,337,068 (GRCm39) D346V probably damaging Het
Ubr4 A C 4: 139,168,112 (GRCm39) S2820R probably damaging Het
Usp4 T C 9: 108,255,763 (GRCm39) V607A probably benign Het
Usp45 A G 4: 21,798,603 (GRCm39) probably null Het
Vill C T 9: 118,899,895 (GRCm39) probably benign Het
Vmn1r13 C A 6: 57,186,979 (GRCm39) T46N probably benign Het
Vmn2r107 A G 17: 20,565,873 (GRCm39) T63A probably benign Het
Vmn2r82 T A 10: 79,232,391 (GRCm39) W797R probably damaging Het
Washc2 T A 6: 116,198,800 (GRCm39) D287E probably damaging Het
Xpc G A 6: 91,475,046 (GRCm39) L660F probably damaging 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
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
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'- CCAGGTGTTGAGCAAGAGTACTGTG -3'
(R):5'- GCAACTTCGAGCAGAACTGTCCAC -3'

Sequencing Primer
(F):5'- agttggcccagtggttaag -3'
(R):5'- AGAACTGTCCACCGTCTGC -3'
Posted On 2013-04-16