Incidental Mutation 'R2017:Iqsec1'
ID 223189
Institutional Source Beutler Lab
Gene Symbol Iqsec1
Ensembl Gene ENSMUSG00000034312
Gene Name IQ motif and Sec7 domain 1
Synonyms cI-43, BRAG2, D6Ertd349e
MMRRC Submission 040026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R2017 (G1)
Quality Score 144
Status Not validated
Chromosome 6
Chromosomal Location 90636578-90965766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 90666912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 508 (H508Q)
Ref Sequence ENSEMBL: ENSMUSP00000148669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000156834] [ENSMUST00000212100]
AlphaFold Q8R0S2
Predicted Effect probably benign
Transcript: ENSMUST00000101151
AA Change: H404Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: H404Q

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: H418Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: H418Q

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: ENSMUST00000133492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146977
Predicted Effect probably benign
Transcript: ENSMUST00000156834
SMART Domains Protein: ENSMUSP00000118802
Gene: ENSMUSG00000034312

DomainStartEndE-ValueType
low complexity region 72 83 N/A INTRINSIC
Blast:Sec7 84 208 5e-24 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204662
Predicted Effect probably benign
Transcript: ENSMUST00000212100
AA Change: H508Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205068
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abcc1 T A 16: 14,279,068 (GRCm39) V1126E probably damaging Het
Abcc12 A G 8: 87,290,617 (GRCm39) L41S probably damaging Het
Adgrg7 T C 16: 56,553,169 (GRCm39) T643A probably benign Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Apool T A X: 111,274,258 (GRCm39) S234T probably benign Het
Ascc3 C T 10: 50,566,307 (GRCm39) P751S probably benign Het
Astn2 G A 4: 65,459,178 (GRCm39) T1079I probably damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcas1 A C 2: 170,190,081 (GRCm39) probably null Het
Btk T C X: 133,448,350 (GRCm39) D355G probably benign Het
C2cd4c A G 10: 79,448,823 (GRCm39) V108A possibly damaging Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Cd22 A T 7: 30,572,205 (GRCm39) L423Q probably damaging Het
Cep128 T C 12: 91,333,238 (GRCm39) D9G probably damaging Het
Cer1 A T 4: 82,801,120 (GRCm39) V181D probably damaging Het
Ciita T C 16: 10,329,540 (GRCm39) L584P probably damaging Het
Cmss1 T C 16: 57,136,641 (GRCm39) D77G probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Cyria T A 12: 12,412,362 (GRCm39) V208D probably damaging Het
Dcaf1 A G 9: 106,725,122 (GRCm39) E536G probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dsg1c T C 18: 20,399,253 (GRCm39) V119A possibly damaging Het
Edn3 A G 2: 174,620,455 (GRCm39) E103G probably benign Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Epx T C 11: 87,765,163 (GRCm39) D178G probably damaging Het
Fkbp10 G A 11: 100,312,499 (GRCm39) V252I possibly damaging Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Gla C T X: 133,497,071 (GRCm39) A39T probably damaging Het
Hivep2 C T 10: 14,006,501 (GRCm39) T1033M probably damaging Het
Hsd17b8 A T 17: 34,245,187 (GRCm39) M259K probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Ikzf4 C T 10: 128,470,026 (GRCm39) G498D probably damaging Het
Impg1 T C 9: 80,322,720 (GRCm39) Y95C probably damaging Het
Ino80c T A 18: 24,244,810 (GRCm39) K136* probably null Het
Itgb3 A G 11: 104,528,788 (GRCm39) H305R possibly damaging Het
Jup T A 11: 100,277,167 (GRCm39) T14S probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 T C 14: 100,260,073 (GRCm39) R219G possibly damaging Het
Klhl42 G T 6: 147,009,291 (GRCm39) V377L probably benign Het
Large1 A G 8: 73,578,825 (GRCm39) F460S probably damaging Het
Loxl3 A T 6: 83,025,958 (GRCm39) D402V probably damaging Het
Lrrc37a T A 11: 103,391,951 (GRCm39) Y1158F probably benign Het
Map2 T A 1: 66,451,958 (GRCm39) S365T probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Med26 A G 8: 73,250,791 (GRCm39) S103P probably damaging Het
Muc4 T C 16: 32,570,121 (GRCm39) S394P possibly damaging Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Obox5 T C 7: 15,492,807 (GRCm39) I254T probably benign Het
Or1p1c T A 11: 74,161,159 (GRCm39) W315R probably benign Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or52j3 T C 7: 102,836,137 (GRCm39) F110L probably benign Het
Or7c19 T C 8: 85,957,373 (GRCm39) L83P possibly damaging Het
Pacs2 A T 12: 113,026,077 (GRCm39) N545Y probably damaging Het
Palld T C 8: 62,137,799 (GRCm39) E652G probably damaging Het
Pgm5 T C 19: 24,801,676 (GRCm39) N184S probably benign Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Pramel13 A G 4: 144,121,244 (GRCm39) V260A possibly damaging Het
Prr36 T A 8: 4,265,205 (GRCm39) T182S probably benign Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Ptprm G T 17: 67,264,148 (GRCm39) probably null Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Rfx6 A G 10: 51,597,700 (GRCm39) N513S possibly damaging Het
Rhbdf1 A G 11: 32,160,471 (GRCm39) I693T probably damaging Het
Scn9a T C 2: 66,345,665 (GRCm39) T1143A probably damaging Het
Spata17 A G 1: 186,780,650 (GRCm39) S366P possibly damaging Het
Svep1 A G 4: 58,070,568 (GRCm39) L2406P probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tgfb2 A T 1: 186,362,962 (GRCm39) Y287* probably null Het
Trip11 A T 12: 101,851,619 (GRCm39) V815E probably benign Het
Trp53bp2 G T 1: 182,276,580 (GRCm39) V854L probably benign Het
Vmn1r78 T C 7: 11,887,270 (GRCm39) S294P possibly damaging Het
Vmn2r86 T C 10: 130,282,582 (GRCm39) K678R probably benign Het
Yeats2 T A 16: 19,977,931 (GRCm39) N138K probably benign Het
Zup1 A T 10: 33,803,460 (GRCm39) N541K possibly 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
IGL02554:Iqsec1 APN 6 90,646,327 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCTGAAAGCTGGAGAGTCC -3'
(R):5'- GAAGCACACCATCACTGGAG -3'

Sequencing Primer
(F):5'- AGGACTCAGAGCTGCAGTTTATG -3'
(R):5'- ACCATCACTGGAGCGGCC -3'
Posted On 2014-08-25