Incidental Mutation 'R9655:Iqgap3'
ID 735435
Institutional Source Beutler Lab
Gene Symbol Iqgap3
Ensembl Gene ENSMUSG00000028068
Gene Name IQ motif containing GTPase activating protein 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R9655 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87989309-88028355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88016728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1070 (V1070D)
Ref Sequence ENSEMBL: ENSMUSP00000071715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071812] [ENSMUST00000194440] [ENSMUST00000195465]
AlphaFold F8VQ29
Predicted Effect possibly damaging
Transcript: ENSMUST00000071812
AA Change: V1070D

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071715
Gene: ENSMUSG00000028068
AA Change: V1070D

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: ENSMUST00000194440
AA Change: V172D

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142035
Gene: ENSMUSG00000028068
AA Change: V172D

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
Predicted Effect probably benign
Transcript: ENSMUST00000195465
SMART Domains Protein: ENSMUSP00000142013
Gene: ENSMUSG00000028068

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,695 (GRCm39) I174F possibly damaging Het
Ada C A 2: 163,574,270 (GRCm39) V129F probably damaging Het
Adgrl4 G T 3: 151,248,450 (GRCm39) M707I probably damaging Het
Ahcyl A T 16: 45,974,564 (GRCm39) I271N probably damaging Het
Arrb2 A G 11: 70,331,073 (GRCm39) Q419R probably null Het
Atad2 A T 15: 57,998,303 (GRCm39) L23Q probably damaging Het
Btbd2 A T 10: 80,492,045 (GRCm39) F107Y probably benign Het
C7 T A 15: 5,041,464 (GRCm39) T481S probably damaging Het
Capn10 T A 1: 92,867,111 (GRCm39) W114R probably damaging Het
Ccdc121 C T 5: 31,644,976 (GRCm39) T243I probably benign Het
Cdc16 T A 8: 13,809,153 (GRCm39) D39E possibly damaging Het
Cfap74 A T 4: 155,522,665 (GRCm39) I684F Het
Cyp2c70 T A 19: 40,149,121 (GRCm39) N342Y possibly damaging Het
Dnah17 G A 11: 117,971,649 (GRCm39) T2128I possibly damaging Het
Dnah5 A G 15: 28,242,900 (GRCm39) N545S probably benign Het
Dnmt3c A G 2: 153,561,914 (GRCm39) N539S probably damaging Het
Elfn1 A G 5: 139,958,964 (GRCm39) E656G possibly damaging Het
Exd1 A T 2: 119,350,855 (GRCm39) C469S probably damaging Het
F5 A T 1: 164,021,730 (GRCm39) I1402F probably benign Het
Fam186a A G 15: 99,840,973 (GRCm39) L1757P probably damaging Het
Fbxo42 A T 4: 140,895,171 (GRCm39) R45W probably damaging Het
Fer1l5 T C 1: 36,460,696 (GRCm39) V1978A probably benign Het
Fpr1 T A 17: 18,097,618 (GRCm39) I124F probably damaging Het
Fry A T 5: 150,362,251 (GRCm39) D2173V possibly damaging Het
Gabbr2 G T 4: 46,815,684 (GRCm39) T228K possibly damaging Het
Galnt9 A T 5: 110,762,104 (GRCm39) Y414F probably damaging Het
Gask1a T A 9: 121,794,170 (GRCm39) L108Q probably benign Het
Ggt5 A T 10: 75,444,635 (GRCm39) M318L probably benign Het
Glod4 A C 11: 76,125,292 (GRCm39) S156A probably benign Het
Gm5431 A T 11: 48,785,799 (GRCm39) M192K probably benign Het
Golga5 C T 12: 102,446,008 (GRCm39) S421L possibly damaging Het
Gpr18 T C 14: 122,149,992 (GRCm39) D11G probably benign Het
Igf2bp3 C T 6: 49,064,338 (GRCm39) V560I probably benign Het
Igfals A G 17: 25,099,665 (GRCm39) N252S probably damaging Het
Ighv8-5 C T 12: 115,031,416 (GRCm39) C41Y probably damaging Het
Kdr G A 5: 76,122,488 (GRCm39) A479V probably benign Het
Kidins220 T C 12: 25,047,295 (GRCm39) L247P probably damaging Het
Kmt5a A G 5: 124,589,393 (GRCm39) Y197C probably damaging Het
Krt33a A C 11: 99,906,624 (GRCm39) probably null Het
Mageb3 A G 2: 121,785,649 (GRCm39) S18P unknown Het
Mast1 T A 8: 85,650,660 (GRCm39) Y387F probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Med17 C T 9: 15,176,719 (GRCm39) V503M possibly damaging Het
Mpp3 A G 11: 101,899,481 (GRCm39) C347R probably benign Het
Mtr A G 13: 12,203,030 (GRCm39) L1191P probably damaging Het
Mybphl A T 3: 108,282,099 (GRCm39) I110F probably damaging Het
Nkx2-1 T A 12: 56,581,802 (GRCm39) D15V probably damaging Het
Nwd2 G A 5: 63,964,568 (GRCm39) W1384* probably null Het
Onecut1 A G 9: 74,770,330 (GRCm39) H251R possibly damaging Het
Or10ak8 T A 4: 118,773,804 (GRCm39) N287Y probably damaging Het
Or13f5 C T 4: 52,825,526 (GRCm39) T43I probably benign Het
Or51a6 A G 7: 102,604,319 (GRCm39) F163S probably damaging Het
Or8b37 A T 9: 37,959,387 (GRCm39) I290L probably benign Het
Palmd T C 3: 116,716,840 (GRCm39) *552W probably null Het
Pcdhgb2 A G 18: 37,823,285 (GRCm39) E92G probably damaging Het
Pcdhgb5 G T 18: 37,865,122 (GRCm39) E306* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pex1 T A 5: 3,655,653 (GRCm39) L160Q probably damaging Het
Phxr2 A T 10: 98,961,974 (GRCm39) S29T unknown Het
Ppargc1a A G 5: 51,705,852 (GRCm39) probably null Het
Psmb11 T C 14: 54,862,965 (GRCm39) V61A probably damaging Het
Ripor2 A T 13: 24,908,983 (GRCm39) I1034F possibly damaging Het
Rnaset2b T A 17: 7,259,134 (GRCm39) N133K probably damaging Het
Rtn4 A G 11: 29,657,504 (GRCm39) T553A probably damaging Het
Samd9l T A 6: 3,373,578 (GRCm39) T1228S probably benign Het
Sdr42e2 A G 7: 120,430,279 (GRCm39) T379A probably benign Het
Shisal2a C A 4: 108,234,616 (GRCm39) V84L possibly damaging Het
Slc1a1 C T 19: 28,870,283 (GRCm39) A94V probably damaging Het
Snx31 C T 15: 36,534,582 (GRCm39) C197Y probably damaging Het
Tbc1d4 A G 14: 101,744,567 (GRCm39) V353A probably damaging Het
Tbc1d9b A G 11: 50,059,610 (GRCm39) D1004G possibly damaging Het
Tex15 T A 8: 34,066,784 (GRCm39) Y2071* probably null Het
Tnni3k G A 3: 154,645,410 (GRCm39) R492* probably null Het
Tns2 A G 15: 102,012,933 (GRCm39) H7R probably benign Het
Top2a G T 11: 98,905,334 (GRCm39) N369K probably damaging Het
Tpbg A T 9: 85,726,252 (GRCm39) T74S probably damaging Het
Trpm6 A G 19: 18,869,466 (GRCm39) N2018D probably benign Het
Trub2 A T 2: 29,669,833 (GRCm39) probably null Het
Vps13d A G 4: 144,813,305 (GRCm39) F3324L Het
Wdr20rt A T 12: 65,273,707 (GRCm39) Q390L probably benign Het
Wdr49 T A 3: 75,240,561 (GRCm39) D436V probably damaging Het
Zfp111 C T 7: 23,898,543 (GRCm39) G357D probably damaging Het
Zfp668 A G 7: 127,466,113 (GRCm39) V357A possibly 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
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
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'- TAGCTATGTCCTCCTTAAAGGCATG -3'
(R):5'- AGCAGAGAAAGTCATGGCCC -3'

Sequencing Primer
(F):5'- ATGAGGCCAGTGACCTATTGCAC -3'
(R):5'- ATGGCCCAAGTCTCCTATAGG -3'
Posted On 2022-11-14