Incidental Mutation 'IGL02684:Iqsec3'
ID303482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqsec3
Ensembl Gene ENSMUSG00000040797
Gene NameIQ motif and Sec7 domain 3
SynonymssynarfGEF, BRAG3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.287) question?
Stock #IGL02684
Quality Score
Status
Chromosome6
Chromosomal Location121372933-121473678 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 121412941 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 524 (Q524*)
Ref Sequence ENSEMBL: ENSMUSP00000145523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046373] [ENSMUST00000129815] [ENSMUST00000151397] [ENSMUST00000152103]
Predicted Effect probably null
Transcript: ENSMUST00000046373
AA Change: Q524*
SMART Domains Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: Q524*

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Blast:Sec7 285 354 5e-16 BLAST
low complexity region 367 386 N/A INTRINSIC
Blast:Sec7 476 507 2e-9 BLAST
low complexity region 508 531 N/A INTRINSIC
low complexity region 542 594 N/A INTRINSIC
low complexity region 598 628 N/A INTRINSIC
Sec7 652 843 9.53e-89 SMART
PH 874 985 4.03e0 SMART
low complexity region 1065 1105 N/A INTRINSIC
low complexity region 1126 1144 N/A INTRINSIC
low complexity region 1160 1178 N/A INTRINSIC
low complexity region 1182 1194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129815
SMART Domains Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000151397
AA Change: Q524*
SMART Domains Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: Q524*

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Blast:Sec7 288 354 2e-16 BLAST
low complexity region 367 386 N/A INTRINSIC
Blast:Sec7 476 507 9e-10 BLAST
low complexity region 508 531 N/A INTRINSIC
low complexity region 542 594 N/A INTRINSIC
low complexity region 598 628 N/A INTRINSIC
Pfam:Sec7 655 722 6.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152103
SMART Domains Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,810,063 L185* probably null Het
Actrt3 A T 3: 30,599,691 D53E probably benign Het
Ankrd34b T C 13: 92,438,508 S83P probably damaging Het
Asap1 A G 15: 64,094,169 V1029A probably benign Het
Blk T C 14: 63,379,694 E288G probably benign Het
Cep192 T G 18: 67,834,563 V706G probably damaging Het
Chd2 T C 7: 73,475,349 K908E probably damaging Het
Dnm1l A T 16: 16,321,657 I391N possibly damaging Het
Fam84a T C 12: 14,150,645 D27G probably damaging Het
Fmn1 A G 2: 113,525,277 R688G unknown Het
Gdap2 A G 3: 100,171,020 D100G probably benign Het
Gm43638 T C 5: 87,462,910 I522V possibly damaging Het
Gm438 A G 4: 144,778,185 probably benign Het
Gsap A T 5: 21,242,803 probably null Het
Hoxd12 A G 2: 74,675,561 S159G probably benign Het
Ints7 A G 1: 191,613,637 probably null Het
Klra10 T A 6: 130,281,882 H14L possibly damaging Het
Mettl15 T C 2: 109,131,580 E228G probably damaging Het
Olfr466 G A 13: 65,152,396 M57I probably damaging Het
Olfr624 T C 7: 103,670,384 M216V probably benign Het
Pabpc1l A G 2: 164,031,277 N156D probably benign Het
Pkhd1l1 G T 15: 44,516,209 probably null Het
Pm20d1 T A 1: 131,804,959 N345K probably benign Het
Rasgrp1 A G 2: 117,282,576 V785A probably benign Het
Sos2 A G 12: 69,596,666 L980S probably damaging Het
Stam2 A T 2: 52,719,935 H56Q probably damaging Het
Trpm6 T A 19: 18,802,207 probably benign Het
Trpm7 A T 2: 126,846,159 D249E probably damaging Het
Vmn1r203 A T 13: 22,524,369 T107S possibly damaging Het
Vmn2r55 A G 7: 12,670,960 L172P probably damaging Het
Vrtn A G 12: 84,650,149 R558G probably benign Het
Zfp977 A T 7: 42,583,015 D7E probably damaging Het
Other mutations in Iqsec3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Iqsec3 APN 6 121473124 missense possibly damaging 0.90
IGL01615:Iqsec3 APN 6 121410621 missense probably damaging 1.00
IGL01728:Iqsec3 APN 6 121412664 utr 3 prime probably benign
IGL01935:Iqsec3 APN 6 121383992 missense probably damaging 1.00
IGL02146:Iqsec3 APN 6 121383957 missense probably damaging 0.99
IGL02369:Iqsec3 APN 6 121412934 utr 3 prime probably benign
IGL03180:Iqsec3 APN 6 121413508 utr 3 prime probably benign
R0032:Iqsec3 UTSW 6 121473130 missense possibly damaging 0.71
R0088:Iqsec3 UTSW 6 121473289 missense probably damaging 0.97
R0189:Iqsec3 UTSW 6 121413562 utr 3 prime probably benign
R0193:Iqsec3 UTSW 6 121410724 missense probably damaging 1.00
R0528:Iqsec3 UTSW 6 121412784 utr 3 prime probably benign
R1885:Iqsec3 UTSW 6 121428367 intron probably benign
R2698:Iqsec3 UTSW 6 121413471 utr 3 prime probably benign
R3751:Iqsec3 UTSW 6 121376255 missense probably benign 0.19
R3753:Iqsec3 UTSW 6 121376255 missense probably benign 0.19
R3947:Iqsec3 UTSW 6 121387824 nonsense probably null
R3948:Iqsec3 UTSW 6 121387824 nonsense probably null
R3949:Iqsec3 UTSW 6 121387824 nonsense probably null
R4006:Iqsec3 UTSW 6 121376228 missense probably damaging 1.00
R4007:Iqsec3 UTSW 6 121376228 missense probably damaging 1.00
R4210:Iqsec3 UTSW 6 121413040 utr 3 prime probably benign
R4535:Iqsec3 UTSW 6 121380018 missense possibly damaging 0.80
R4567:Iqsec3 UTSW 6 121387762 missense probably damaging 1.00
R5096:Iqsec3 UTSW 6 121386698 missense probably damaging 1.00
R5135:Iqsec3 UTSW 6 121383919 missense probably damaging 1.00
R5289:Iqsec3 UTSW 6 121386700 critical splice acceptor site probably null
R5537:Iqsec3 UTSW 6 121412644 utr 3 prime probably benign
R6555:Iqsec3 UTSW 6 121384219 missense probably damaging 1.00
R6942:Iqsec3 UTSW 6 121473103 missense probably damaging 1.00
R7122:Iqsec3 UTSW 6 121473358 missense not run
Posted On2015-04-16