Incidental Mutation 'IGL02503:Iqsec1'
ID296177
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: 0.183) question?
Stock #IGL02503
Quality Score
Status
Chromosome6
Chromosomal Location90656088-90988685 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 90668788 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 809 (I809F)
Ref Sequence ENSEMBL: ENSMUSP00000098710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000212100]
Predicted Effect probably damaging
Transcript: ENSMUST00000101151
AA Change: I809F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: I809F

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 damaging
Transcript: ENSMUST00000101153
AA Change: I823F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: I823F

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 probably damaging
Transcript: ENSMUST00000212100
AA Change: I913F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 55,771,505 W822R probably damaging Het
Ago4 A T 4: 126,496,805 Y807* probably null Het
Alkbh8 G A 9: 3,347,852 G215D probably damaging Het
Cfap57 C T 4: 118,569,348 probably null Het
Cspg4 G A 9: 56,897,403 V1833M probably damaging Het
Cyp4f17 T C 17: 32,524,966 probably null Het
Dapk1 T A 13: 60,761,807 Y1411* probably null Het
Dmrtc1b T A X: 102,714,760 S199T possibly damaging Het
Elk4 A G 1: 132,014,539 N50D probably damaging Het
Filip1l T A 16: 57,571,575 V604E probably benign Het
Fmo3 A T 1: 162,968,864 H46Q probably benign Het
Fndc1 T A 17: 7,771,516 Y1116F unknown Het
Fpr-rs3 T A 17: 20,624,555 N108I probably damaging Het
Glmn A T 5: 107,562,778 M316K probably damaging Het
Gm5591 C A 7: 38,520,009 R480I probably damaging Het
Gm8122 G T 14: 43,235,188 R39S unknown Het
Gprasp1 T A X: 135,802,530 Y1157* probably null Het
Hist2h2be A G 3: 96,221,223 T20A probably benign Het
Hsf1 T C 15: 76,498,670 L370P probably benign Het
Itsn1 G T 16: 91,889,204 M54I possibly damaging Het
Klra2 T C 6: 131,230,094 N184S probably benign Het
Lifr T A 15: 7,185,623 V737E probably damaging Het
Lrpprc T C 17: 84,726,339 T1037A probably benign Het
Map3k13 A T 16: 21,908,704 I439F possibly damaging Het
Megf8 T C 7: 25,363,563 V2448A possibly damaging Het
Mthfd1l T A 10: 4,083,824 V737D probably damaging Het
Mtm1 A G X: 71,299,670 T386A probably damaging Het
Muc5b T C 7: 141,867,667 V4298A probably benign Het
Olfr1053 C T 2: 86,314,639 G216R possibly damaging Het
Olfr1123 T G 2: 87,418,292 F81L probably benign Het
Olfr1143 A T 2: 87,802,520 I44F probably benign Het
Plch1 A G 3: 63,697,864 S1531P probably damaging Het
Poc1b T A 10: 99,144,348 probably benign Het
Rictor T A 15: 6,786,443 N1065K probably benign Het
Rpsa A G 9: 120,128,593 E35G possibly damaging Het
Scfd1 T A 12: 51,422,921 D416E possibly damaging Het
Sdad1 A T 5: 92,301,802 probably benign Het
Skor1 A G 9: 63,146,115 S191P probably damaging Het
Slc28a2 T C 2: 122,458,212 F600L probably benign Het
Tmem229b-ps A G 10: 53,475,154 noncoding transcript Het
Top2b A G 14: 16,407,163 M678V possibly damaging Het
Ttn T C 2: 76,786,763 N8092S probably damaging Het
Ttn C T 2: 76,741,689 V26287I probably damaging Het
Tulp4 T A 17: 6,213,391 I345N probably damaging Het
U2surp C T 9: 95,502,569 V21I probably benign Het
Ubr5 T C 15: 38,018,320 T859A possibly damaging Het
Ubr5 T C 15: 38,018,314 K861E probably damaging Het
Unc13d A G 11: 116,068,802 V617A possibly damaging Het
Vmn2r10 T C 5: 109,003,475 Y91C probably damaging Het
Vmn2r120 T A 17: 57,509,385 I657F probably benign Het
Wwc2 T C 8: 47,849,383 R931G unknown 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
IGL02506:Iqsec1 APN 6 90672075 missense possibly damaging 0.94
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