Incidental Mutation 'IGL02506:Iqsec1'
ID296316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqsec1
Ensembl Gene ENSMUSG00000034312
Gene NameIQ motif and Sec7 domain 1
SynonymsD6Ertd349e, cI-43, BRAG2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.231) question?
Stock #IGL02506
Quality Score
Status
Chromosome6
Chromosomal Location90656088-90988685 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90672075 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 687 (I687V)
Ref Sequence ENSEMBL: ENSMUSP00000098710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000212100]
Predicted Effect possibly damaging
Transcript: ENSMUST00000101151
AA Change: I687V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: I687V

DomainStartEndE-ValueType
low complexity region 57 68 N/A INTRINSIC
Blast:Sec7 69 369 6e-39 BLAST
low complexity region 370 389 N/A INTRINSIC
low complexity region 396 430 N/A INTRINSIC
low complexity region 450 481 N/A INTRINSIC
Sec7 505 696 1.31e-95 SMART
PH 737 848 2.39e-2 SMART
low complexity region 901 914 N/A INTRINSIC
low complexity region 963 976 N/A INTRINSIC
low complexity region 978 1000 N/A INTRINSIC
low complexity region 1014 1060 N/A INTRINSIC
low complexity region 1062 1094 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101153
AA Change: I701V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: I701V

DomainStartEndE-ValueType
low complexity region 71 82 N/A INTRINSIC
Blast:Sec7 83 383 4e-39 BLAST
low complexity region 384 403 N/A INTRINSIC
low complexity region 410 444 N/A INTRINSIC
low complexity region 464 495 N/A INTRINSIC
Sec7 519 710 1.31e-95 SMART
PH 751 862 2.39e-2 SMART
low complexity region 915 928 N/A INTRINSIC
low complexity region 948 957 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154198
Predicted Effect possibly damaging
Transcript: ENSMUST00000212100
AA Change: I791V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in neurons fail to exhibit mGluR- and NMDAR-mediated long term depression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,692,488 E189G possibly damaging Het
Acad11 T C 9: 104,091,732 probably null Het
Adcy7 G T 8: 88,317,943 R488L probably damaging Het
Akt1 C T 12: 112,659,280 probably benign Het
Ano9 C T 7: 141,102,254 probably benign Het
Arhgap15 A G 2: 44,063,808 D182G possibly damaging Het
Asxl3 T A 18: 22,452,399 V127D probably benign Het
Cacna1g A G 11: 94,429,129 M1407T probably damaging Het
Card9 A C 2: 26,354,415 probably benign Het
Cdh5 A G 8: 104,137,822 N472D probably damaging Het
Ceacam2 T A 7: 25,527,954 T343S probably benign Het
Cic T A 7: 25,290,857 C1928S probably benign Het
Clk3 C T 9: 57,754,644 W31* probably null Het
Cntn4 A G 6: 106,618,388 T489A probably benign Het
Crispld1 G A 1: 17,756,305 R431H probably damaging Het
Crmp1 T A 5: 37,278,855 probably benign Het
Cyld A G 8: 88,729,590 T423A possibly damaging Het
Cyp3a44 A T 5: 145,799,388 I84N probably damaging Het
D2hgdh A G 1: 93,829,785 N141D probably damaging Het
Dip2b T A 15: 100,157,281 L341Q probably damaging Het
F3 C T 3: 121,731,674 T53I possibly damaging Het
Fam227b T A 2: 126,003,911 Y386F probably benign Het
Fmn1 A T 2: 113,525,295 T694S unknown Het
Gcnt2 T A 13: 40,887,380 V5E probably benign Het
Herpud1 G T 8: 94,394,642 E355* probably null Het
Igf1r T C 7: 68,193,396 S752P probably benign Het
Kdm5a T C 6: 120,432,149 S1598P probably damaging Het
Klk9 A G 7: 43,795,639 E185G probably benign Het
Myo16 G T 8: 10,390,217 R423L probably damaging Het
Myo7b T C 18: 31,967,154 E1609G probably damaging Het
Nom1 T A 5: 29,439,816 probably benign Het
Nomo1 A G 7: 46,078,056 I1040V possibly damaging Het
Olfr887 G A 9: 38,085,445 G203D probably damaging Het
Paqr9 T C 9: 95,560,695 V246A probably benign Het
Pfkfb4 A T 9: 109,030,336 D437V probably benign Het
Phldb1 G T 9: 44,710,926 D797E probably benign Het
Pkd1l3 A G 8: 109,647,500 E1399G probably damaging Het
Plekhs1 G A 19: 56,471,766 C97Y probably damaging Het
Plscr4 A T 9: 92,489,991 I272L possibly damaging Het
Prlhr A C 19: 60,467,928 Y67D probably damaging Het
Rab3gap2 A G 1: 185,252,024 probably benign Het
Rad23b T C 4: 55,382,511 V238A probably benign Het
Sel1l2 T C 2: 140,275,460 T164A possibly damaging Het
Serpinh1 T A 7: 99,346,992 K295M probably damaging Het
Slc45a4 T C 15: 73,581,838 E770G probably benign Het
Spag4 T C 2: 156,069,222 L390P probably damaging Het
Stip1 A G 19: 7,035,489 probably benign Het
Tacr1 A G 6: 82,403,758 N50S probably damaging Het
Tg T C 15: 66,741,594 V433A possibly damaging Het
Ubap1l T A 9: 65,369,211 probably benign Het
Usp40 A T 1: 87,982,016 I572K probably damaging Het
Vps13b G T 15: 35,917,162 E3717D probably damaging Het
Wdr81 T C 11: 75,444,406 N1778S probably benign Het
Ylpm1 T A 12: 85,049,191 F1162Y probably damaging Het
Zbtb10 T A 3: 9,265,237 F552I probably damaging Het
Zfp507 T C 7: 35,776,466 I811V probably damaging Het
Zfp663 A T 2: 165,353,951 V116D probably benign Het
Other mutations in Iqsec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Iqsec1 APN 6 90689703 missense probably damaging 1.00
IGL01749:Iqsec1 APN 6 90680504 missense probably benign 0.03
IGL01960:Iqsec1 APN 6 90676780 missense probably damaging 1.00
IGL02007:Iqsec1 APN 6 90690349 missense probably benign 0.37
IGL02045:Iqsec1 APN 6 90664069 missense probably damaging 0.96
IGL02186:Iqsec1 APN 6 90676877 missense probably damaging 1.00
IGL02211:Iqsec1 APN 6 90671609 missense probably damaging 1.00
IGL02503:Iqsec1 APN 6 90668788 missense probably damaging 1.00
IGL02554:Iqsec1 APN 6 90669345 missense probably damaging 1.00
PIT4260001:Iqsec1 UTSW 6 90690489 missense probably damaging 1.00
PIT4810001:Iqsec1 UTSW 6 90670491 missense probably damaging 1.00
R0139:Iqsec1 UTSW 6 90809758 intron probably benign
R0371:Iqsec1 UTSW 6 90670403 splice site probably benign
R0617:Iqsec1 UTSW 6 90689970 missense probably damaging 1.00
R0619:Iqsec1 UTSW 6 90670406 splice site probably null
R1157:Iqsec1 UTSW 6 90669384 missense possibly damaging 0.83
R1168:Iqsec1 UTSW 6 90689676 missense probably damaging 1.00
R1190:Iqsec1 UTSW 6 90689677 missense probably damaging 1.00
R1192:Iqsec1 UTSW 6 90671976 splice site probably benign
R1435:Iqsec1 UTSW 6 90672024 missense probably damaging 1.00
R1449:Iqsec1 UTSW 6 90690808 nonsense probably null
R1697:Iqsec1 UTSW 6 90809770 nonsense probably null
R1921:Iqsec1 UTSW 6 90662895 missense probably benign 0.00
R1958:Iqsec1 UTSW 6 90670459 missense probably damaging 1.00
R2017:Iqsec1 UTSW 6 90689930 missense probably benign 0.02
R2082:Iqsec1 UTSW 6 90694574 missense probably damaging 1.00
R2372:Iqsec1 UTSW 6 90694654 missense probably damaging 1.00
R2442:Iqsec1 UTSW 6 90689883 missense possibly damaging 0.52
R4120:Iqsec1 UTSW 6 90662602 nonsense probably null
R4371:Iqsec1 UTSW 6 90694606 missense probably damaging 1.00
R4645:Iqsec1 UTSW 6 90668013 missense probably damaging 1.00
R4864:Iqsec1 UTSW 6 90664056 missense probably damaging 1.00
R5436:Iqsec1 UTSW 6 90845361 intron probably benign
R5790:Iqsec1 UTSW 6 90689880 nonsense probably null
R6007:Iqsec1 UTSW 6 90660987 nonsense probably null
R6143:Iqsec1 UTSW 6 90809684 splice site probably null
R6218:Iqsec1 UTSW 6 90689635 missense probably damaging 1.00
R6972:Iqsec1 UTSW 6 90676768 missense probably damaging 1.00
R7506:Iqsec1 UTSW 6 90662806 missense possibly damaging 0.53
R7506:Iqsec1 UTSW 6 90667909 missense probably damaging 1.00
R7539:Iqsec1 UTSW 6 90662891 missense probably benign 0.00
R7921:Iqsec1 UTSW 6 90667941 missense probably damaging 1.00
R7946:Iqsec1 UTSW 6 90690270 missense probably damaging 1.00
R8238:Iqsec1 UTSW 6 90689930 missense probably benign 0.01
Posted On2015-04-16