Incidental Mutation 'IGL02554:Iqsec1'
ID 298438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqsec1
Ensembl Gene ENSMUSG00000034312
Gene Name IQ motif and Sec7 domain 1
Synonyms cI-43, BRAG2, D6Ertd349e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL02554
Quality Score
Status
Chromosome 6
Chromosomal Location 90636578-90965766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90646327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 784 (Y784C)
Ref Sequence ENSEMBL: ENSMUSP00000098710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000212100]
AlphaFold Q8R0S2
Predicted Effect probably damaging
Transcript: ENSMUST00000101151
AA Change: Y784C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: Y784C

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: Y798C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: Y798C

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: Y888C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,838,830 (GRCm39) M586L probably damaging Het
Abcg3 T C 5: 105,117,318 (GRCm39) D204G possibly damaging Het
Acox3 C A 5: 35,765,710 (GRCm39) L588I probably damaging Het
Adamts9 G T 6: 92,857,828 (GRCm39) L849I probably benign Het
Alkbh3 T G 2: 93,826,692 (GRCm39) T170P probably damaging Het
Anks1b A T 10: 90,757,240 (GRCm39) H300L probably damaging Het
Arhgap29 T C 3: 121,786,173 (GRCm39) probably benign Het
Brd8dc A G 18: 34,726,068 (GRCm39) S112P probably benign Het
Cd86 C T 16: 36,438,847 (GRCm39) G181D probably benign Het
Cep68 A T 11: 20,190,096 (GRCm39) H305Q possibly damaging Het
Cimip4 A G 15: 78,262,736 (GRCm39) M245T possibly damaging Het
Clptm1l A T 13: 73,755,879 (GRCm39) D165V probably benign Het
Dctn1 T C 6: 83,159,704 (GRCm39) Y61H probably damaging Het
Dnah7a A T 1: 53,657,205 (GRCm39) M857K possibly damaging Het
Gpr158 A G 2: 21,831,407 (GRCm39) M836V probably benign Het
Gria1 G T 11: 57,180,314 (GRCm39) A755S possibly damaging Het
Helb G A 10: 119,925,617 (GRCm39) T920M probably damaging Het
Hr T C 14: 70,797,306 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,864,994 (GRCm39) S152P probably damaging Het
Ldah T A 12: 8,333,935 (GRCm39) C275* probably null Het
Lpin3 T C 2: 160,738,707 (GRCm39) S220P probably damaging Het
Med23 T C 10: 24,774,473 (GRCm39) probably null Het
Mllt1 T C 17: 57,206,806 (GRCm39) D346G probably benign Het
Myef2 A C 2: 124,942,345 (GRCm39) probably null Het
Myh2 A G 11: 67,079,991 (GRCm39) S1095G probably benign Het
Nav1 A G 1: 135,512,651 (GRCm39) silent Het
Or10a3m A G 7: 108,312,949 (GRCm39) M118V possibly damaging Het
Piwil2 G A 14: 70,628,935 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,441,896 (GRCm39) F3612I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
S100pbp A T 4: 129,075,644 (GRCm39) probably null Het
Scnn1b T C 7: 121,516,746 (GRCm39) I495T probably damaging Het
Sgo2b A C 8: 64,379,571 (GRCm39) V1087G probably damaging Het
Sil1 A T 18: 35,481,786 (GRCm39) V91E probably damaging Het
Slc5a4b A G 10: 75,946,685 (GRCm39) I29T possibly damaging Het
Spink5 A T 18: 44,148,661 (GRCm39) N908I probably benign Het
Svopl A C 6: 37,993,978 (GRCm39) I351S probably damaging Het
Syngr3 A G 17: 24,905,302 (GRCm39) V198A probably benign Het
Tbck C A 3: 132,456,953 (GRCm39) Y622* probably null Het
Tkt T A 14: 30,280,737 (GRCm39) M56K probably damaging Het
Trip10 T C 17: 57,570,135 (GRCm39) V544A probably damaging Het
Txndc16 T C 14: 45,409,995 (GRCm39) E195G probably damaging Het
Vmn2r69 G A 7: 85,059,014 (GRCm39) P516S probably damaging Het
Vmn2r74 T C 7: 85,606,581 (GRCm39) N255S probably benign Het
Xpo4 T C 14: 57,827,545 (GRCm39) T884A probably benign Het
Zdhhc2 A G 8: 40,915,155 (GRCm39) N167S probably damaging Het
Other mutations in Iqsec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Iqsec1 APN 6 90,666,685 (GRCm39) missense probably damaging 1.00
IGL01749:Iqsec1 APN 6 90,657,486 (GRCm39) missense probably benign 0.03
IGL01960:Iqsec1 APN 6 90,653,762 (GRCm39) missense probably damaging 1.00
IGL02007:Iqsec1 APN 6 90,667,331 (GRCm39) missense probably benign 0.37
IGL02045:Iqsec1 APN 6 90,641,051 (GRCm39) missense probably damaging 0.96
IGL02186:Iqsec1 APN 6 90,653,859 (GRCm39) missense probably damaging 1.00
IGL02211:Iqsec1 APN 6 90,648,591 (GRCm39) missense probably damaging 1.00
IGL02503:Iqsec1 APN 6 90,645,770 (GRCm39) missense probably damaging 1.00
IGL02506:Iqsec1 APN 6 90,649,057 (GRCm39) missense possibly damaging 0.94
PIT4260001:Iqsec1 UTSW 6 90,667,471 (GRCm39) missense probably damaging 1.00
PIT4810001:Iqsec1 UTSW 6 90,647,473 (GRCm39) missense probably damaging 1.00
R0139:Iqsec1 UTSW 6 90,786,740 (GRCm39) intron probably benign
R0371:Iqsec1 UTSW 6 90,647,385 (GRCm39) splice site probably benign
R0617:Iqsec1 UTSW 6 90,666,952 (GRCm39) missense probably damaging 1.00
R0619:Iqsec1 UTSW 6 90,647,388 (GRCm39) splice site probably null
R1157:Iqsec1 UTSW 6 90,646,366 (GRCm39) missense possibly damaging 0.83
R1168:Iqsec1 UTSW 6 90,666,658 (GRCm39) missense probably damaging 1.00
R1190:Iqsec1 UTSW 6 90,666,659 (GRCm39) missense probably damaging 1.00
R1192:Iqsec1 UTSW 6 90,648,958 (GRCm39) splice site probably benign
R1435:Iqsec1 UTSW 6 90,649,006 (GRCm39) missense probably damaging 1.00
R1449:Iqsec1 UTSW 6 90,667,790 (GRCm39) nonsense probably null
R1697:Iqsec1 UTSW 6 90,786,752 (GRCm39) nonsense probably null
R1921:Iqsec1 UTSW 6 90,639,877 (GRCm39) missense probably benign 0.00
R1958:Iqsec1 UTSW 6 90,647,441 (GRCm39) missense probably damaging 1.00
R2017:Iqsec1 UTSW 6 90,666,912 (GRCm39) missense probably benign 0.02
R2082:Iqsec1 UTSW 6 90,671,556 (GRCm39) missense probably damaging 1.00
R2372:Iqsec1 UTSW 6 90,671,636 (GRCm39) missense probably damaging 1.00
R2442:Iqsec1 UTSW 6 90,666,865 (GRCm39) missense possibly damaging 0.52
R4120:Iqsec1 UTSW 6 90,639,584 (GRCm39) nonsense probably null
R4371:Iqsec1 UTSW 6 90,671,588 (GRCm39) missense probably damaging 1.00
R4645:Iqsec1 UTSW 6 90,644,995 (GRCm39) missense probably damaging 1.00
R4864:Iqsec1 UTSW 6 90,641,038 (GRCm39) missense probably damaging 1.00
R5436:Iqsec1 UTSW 6 90,822,343 (GRCm39) intron probably benign
R5790:Iqsec1 UTSW 6 90,666,862 (GRCm39) nonsense probably null
R6007:Iqsec1 UTSW 6 90,637,969 (GRCm39) nonsense probably null
R6143:Iqsec1 UTSW 6 90,786,666 (GRCm39) splice site probably null
R6218:Iqsec1 UTSW 6 90,666,617 (GRCm39) missense probably damaging 1.00
R6972:Iqsec1 UTSW 6 90,653,750 (GRCm39) missense probably damaging 1.00
R7506:Iqsec1 UTSW 6 90,644,891 (GRCm39) missense probably damaging 1.00
R7506:Iqsec1 UTSW 6 90,639,788 (GRCm39) missense possibly damaging 0.53
R7539:Iqsec1 UTSW 6 90,639,873 (GRCm39) missense probably benign 0.00
R7921:Iqsec1 UTSW 6 90,644,923 (GRCm39) missense probably damaging 1.00
R7946:Iqsec1 UTSW 6 90,667,252 (GRCm39) missense probably damaging 1.00
R8238:Iqsec1 UTSW 6 90,666,912 (GRCm39) missense probably benign 0.01
R9536:Iqsec1 UTSW 6 90,666,659 (GRCm39) missense probably damaging 1.00
R9738:Iqsec1 UTSW 6 90,671,672 (GRCm39) nonsense probably null
Posted On 2015-04-16