Incidental Mutation 'R4660:Iqgap3'
ID 352737
Institutional Source Beutler Lab
Gene Symbol Iqgap3
Ensembl Gene ENSMUSG00000028068
Gene Name IQ motif containing GTPase activating protein 3
Synonyms
MMRRC Submission 041920-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R4660 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87989309-88028355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 88027483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 702 (L702R)
Ref Sequence ENSEMBL: ENSMUSP00000142035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071812] [ENSMUST00000194440]
AlphaFold F8VQ29
Predicted Effect probably damaging
Transcript: ENSMUST00000071812
AA Change: L1600R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: L1600R

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: ENSMUST00000194440
AA Change: L702R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068
AA Change: L702R

DomainStartEndE-ValueType
Blast:RasGAP 1 67 3e-30 BLAST
RasGAP 79 432 1e-59 SMART
Blast:RasGAP 440 524 5e-10 BLAST
Pfam:RasGAP_C 535 660 5.7e-30 PFAM
low complexity region 693 704 N/A INTRINSIC
low complexity region 717 732 N/A INTRINSIC
Meta Mutation Damage Score 0.6043 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (102/106)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d T C 2: 131,403,062 (GRCm39) T343A probably damaging Het
Angptl4 A T 17: 33,996,249 (GRCm39) probably benign Het
Antxr2 A T 5: 98,151,913 (GRCm39) probably null Het
Ap1b1 T A 11: 4,966,760 (GRCm39) V145E probably damaging Het
Asns G T 6: 7,678,012 (GRCm39) N355K probably benign Het
Asxl3 A G 18: 22,649,534 (GRCm39) T508A probably benign Het
B4galt7 T A 13: 55,752,111 (GRCm39) V54D possibly damaging Het
Bach2 C T 4: 32,562,777 (GRCm39) P415S probably benign Het
Bbs9 G A 9: 22,490,063 (GRCm39) R278Q probably benign Het
Blzf1 C T 1: 164,134,062 (GRCm39) probably benign Het
Btd A T 14: 31,389,760 (GRCm39) T494S probably benign Het
Casp9 C T 4: 141,540,934 (GRCm39) T434I probably benign Het
Cavin2 T C 1: 51,340,510 (GRCm39) S396P probably benign Het
Ccnk C T 12: 108,168,575 (GRCm39) probably benign Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clip1 G A 5: 123,717,437 (GRCm39) T1284I probably damaging Het
Coch T C 12: 51,642,268 (GRCm39) V80A probably benign Het
Cttnbp2 A G 6: 18,406,536 (GRCm39) S1052P probably benign Het
Cyp2j7 C T 4: 96,083,579 (GRCm39) R457K probably benign Het
Dalrd3 T C 9: 108,447,568 (GRCm39) S129P probably benign Het
Ddx10 A G 9: 53,147,698 (GRCm39) probably null Het
Dnah7b A T 1: 46,328,696 (GRCm39) T3143S probably damaging Het
Dynlt1b A G 17: 6,699,279 (GRCm39) T10A probably benign Het
Eif2s2 G A 2: 154,730,189 (GRCm39) T36I probably benign Het
Fam118b A T 9: 35,146,551 (GRCm39) H105Q possibly damaging Het
Galntl5 T A 5: 25,408,377 (GRCm39) I250N probably damaging Het
Gm11544 C T 11: 94,736,306 (GRCm39) noncoding transcript Het
Gm5709 C T 3: 59,526,124 (GRCm39) noncoding transcript Het
Golgb1 T A 16: 36,707,980 (GRCm39) I107N probably damaging Het
Gpld1 T C 13: 25,166,586 (GRCm39) probably null Het
Grik1 T A 16: 87,720,019 (GRCm39) T768S probably damaging Het
H2-T23 T G 17: 36,341,108 (GRCm39) Q349P probably damaging Het
Ing3 A T 6: 21,973,710 (GRCm39) probably benign Het
Itga8 A G 2: 12,270,069 (GRCm39) V139A probably damaging Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Kbtbd12 T C 6: 88,594,772 (GRCm39) I353V probably benign Het
Kif27 T C 13: 58,471,730 (GRCm39) E786G probably damaging Het
Lingo4 T A 3: 94,310,672 (GRCm39) S537T probably benign Het
Lipo3 C T 19: 33,598,360 (GRCm39) probably benign Het
Lrrc3 G T 10: 77,729,866 (GRCm39) probably benign Het
Ltbp3 T A 19: 5,798,814 (GRCm39) probably null Het
Lyg1 T A 1: 37,985,942 (GRCm39) probably benign Het
Mcm9 T C 10: 53,424,623 (GRCm39) I656V probably benign Het
Mfsd8 T A 3: 40,776,372 (GRCm39) I427F probably benign Het
Mga T A 2: 119,769,104 (GRCm39) probably benign Het
Miga1 A G 3: 151,993,155 (GRCm39) L422P probably damaging Het
Msantd3 A G 4: 48,552,536 (GRCm39) I42V probably benign Het
Mybbp1a T C 11: 72,336,538 (GRCm39) V510A probably benign Het
Nccrp1 G T 7: 28,245,760 (GRCm39) P135T probably damaging Het
Neb T A 2: 52,145,600 (GRCm39) M2975L possibly damaging Het
Nfxl1 A T 5: 72,710,011 (GRCm39) I171N probably damaging Het
Odad2 A G 18: 7,211,609 (GRCm39) V755A possibly damaging Het
Or10q3 T C 19: 11,848,412 (GRCm39) H56R possibly damaging Het
Or12j5 A T 7: 140,083,933 (GRCm39) F146L probably benign Het
Or13a19 T C 7: 139,903,325 (GRCm39) F238L possibly damaging Het
Otop1 T G 5: 38,457,368 (GRCm39) S376A possibly damaging Het
Pdgfra T C 5: 75,322,932 (GRCm39) V10A possibly damaging Het
Pgs1 T C 11: 117,910,503 (GRCm39) V538A probably damaging Het
Ppa2 A T 3: 133,032,445 (GRCm39) T97S probably damaging Het
Pramel22 T A 4: 143,380,847 (GRCm39) Y392F probably benign Het
Pramel26 A G 4: 143,538,435 (GRCm39) S179P probably benign Het
Prdm10 G A 9: 31,238,624 (GRCm39) C172Y probably damaging Het
Prrc2c G A 1: 162,508,464 (GRCm39) P1091L probably damaging Het
Pthlh G A 6: 147,158,796 (GRCm39) R55C probably damaging Het
Ptpn9 A T 9: 56,943,782 (GRCm39) T105S probably benign Het
Rundc1 T A 11: 101,324,830 (GRCm39) V512E possibly damaging Het
Scrib G A 15: 75,937,185 (GRCm39) S307L probably damaging Het
Sec23ip A G 7: 128,352,010 (GRCm39) S26G probably null Het
Sec61a2 A G 2: 5,878,504 (GRCm39) probably benign Het
Sema3c T C 5: 17,877,511 (GRCm39) V206A probably damaging Het
Sgk2 C T 2: 162,839,763 (GRCm39) H124Y possibly damaging Het
Slc26a6 C T 9: 108,738,540 (GRCm39) T592I probably damaging Het
Slc5a11 T C 7: 122,864,486 (GRCm39) Y361H probably damaging Het
Smc6 T C 12: 11,324,008 (GRCm39) V51A probably damaging Het
Stab1 A T 14: 30,876,872 (GRCm39) N817K possibly damaging Het
Swt1 A T 1: 151,283,348 (GRCm39) D336E probably benign Het
Taf13 T A 3: 108,480,293 (GRCm39) probably benign Het
Tmub2 T C 11: 102,175,845 (GRCm39) probably benign Het
Tnf A G 17: 35,419,156 (GRCm39) S209P probably benign Het
Try10 A G 6: 41,334,761 (GRCm39) Y229C probably damaging Het
Ttbk1 G T 17: 46,788,714 (GRCm39) Y183* probably null Het
Ttc17 A T 2: 94,194,774 (GRCm39) I533N possibly damaging Het
Tubb6 C T 18: 67,535,016 (GRCm39) P305L probably damaging Het
Tulp3 G A 6: 128,300,017 (GRCm39) probably benign Het
Usp9x A G X: 12,989,747 (GRCm39) R776G possibly damaging Het
Virma T C 4: 11,513,505 (GRCm39) V453A probably damaging Het
Vmn2r103 A T 17: 20,032,077 (GRCm39) N617I probably damaging Het
Xirp1 G T 9: 119,846,058 (GRCm39) L942M probably damaging Het
Zc3h7b T G 15: 81,676,451 (GRCm39) V731G probably benign Het
Zfp534 C T 4: 147,759,175 (GRCm39) G498D probably benign Het
Zfp639 T C 3: 32,574,679 (GRCm39) Y435H probably damaging Het
Zxdc A G 6: 90,355,820 (GRCm39) H443R 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
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
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'- ACAGATTCTCCGGTGTTTGC -3'
(R):5'- CTTCAGCCAAGTAGGACAATTC -3'

Sequencing Primer
(F):5'- GTTTGCCTTGAGTAAGAAACCCGC -3'
(R):5'- ACAATTCCTCTTGGGCGG -3'
Posted On 2015-10-08