Incidental Mutation 'R1435:Iqsec1'
ID 159446
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 039490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R1435 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 90636578-90965766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90649006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 808 (S808P)
Ref Sequence ENSEMBL: ENSMUSP00000148669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000212100]
AlphaFold Q8R0S2
Predicted Effect probably damaging
Transcript: ENSMUST00000101151
AA Change: S704P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312
AA Change: S704P

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: S718P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312
AA Change: S718P

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: S808P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.0%
  • 20x: 81.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T G 11: 69,905,642 (GRCm39) T62P probably benign Het
Amz1 A T 5: 140,733,921 (GRCm39) N166Y probably damaging Het
Anxa6 T C 11: 54,882,236 (GRCm39) Q518R probably benign Het
Aox3 G A 1: 58,202,605 (GRCm39) probably null Het
Arid1a C T 4: 133,408,009 (GRCm39) R2166Q unknown Het
Asb4 T G 6: 5,398,410 (GRCm39) I125S probably benign Het
Aspscr1 T C 11: 120,580,048 (GRCm39) S196P probably benign Het
Atxn3 A G 12: 101,908,460 (GRCm39) F131L probably benign Het
B3gnt5 T A 16: 19,587,924 (GRCm39) Y48N probably damaging Het
Bglap3 A G 3: 88,276,453 (GRCm39) M35T possibly damaging Het
Cabp1 A T 5: 115,311,267 (GRCm39) D79E probably damaging Het
Cemip2 A T 19: 21,822,070 (GRCm39) Q1155L probably benign Het
Chd2 C T 7: 73,102,884 (GRCm39) R1367Q probably damaging Het
Clec5a T A 6: 40,561,358 (GRCm39) Q29L probably damaging Het
Cmtr2 T C 8: 110,947,711 (GRCm39) L7P probably benign Het
Cnbd1 T C 4: 18,907,026 (GRCm39) I183V probably benign Het
Col7a1 G A 9: 108,792,341 (GRCm39) G1297D unknown Het
Csnk1g3 G A 18: 54,039,746 (GRCm39) probably null Het
Cyp4a32 A T 4: 115,463,863 (GRCm39) N134I probably damaging Het
Cyp4f16 CTATG CTATGTATG 17: 32,769,708 (GRCm39) probably null Het
Dst G A 1: 34,153,026 (GRCm39) V56M probably damaging Het
Engase A T 11: 118,375,727 (GRCm39) T32S probably damaging Het
Fam117b T C 1: 60,008,222 (GRCm39) I352T possibly damaging Het
Golga4 C A 9: 118,364,508 (GRCm39) D290E probably benign Het
Gtf2a1l C A 17: 89,001,743 (GRCm39) H153N probably damaging Het
Hivep1 C A 13: 42,311,519 (GRCm39) T1253N probably damaging Het
Hps1 T C 19: 42,750,714 (GRCm39) S398G probably benign Het
Il1r2 T A 1: 40,144,459 (GRCm39) F49I probably damaging Het
Lrrk1 A G 7: 65,922,776 (GRCm39) L289P probably damaging Het
Magi2 T A 5: 20,563,943 (GRCm39) D358E probably damaging Het
Man2b2 A G 5: 36,970,411 (GRCm39) W832R probably damaging Het
Mfsd4a G T 1: 131,995,494 (GRCm39) T46K probably damaging Het
N4bp3 G A 11: 51,535,167 (GRCm39) R341W probably damaging Het
Odad2 T A 18: 7,222,646 (GRCm39) H541L probably benign Het
Or51f2 T C 7: 102,526,974 (GRCm39) S216P probably damaging Het
Or8s5 A T 15: 98,238,209 (GRCm39) H220Q possibly damaging Het
Otof A G 5: 30,536,039 (GRCm39) L1353S probably benign Het
Pcsk5 A T 19: 17,541,246 (GRCm39) C844* probably null Het
Pdk2 T C 11: 94,922,721 (GRCm39) Y153C probably damaging Het
Pes1 T C 11: 3,926,075 (GRCm39) V292A probably benign Het
Pex14 T C 4: 149,047,984 (GRCm39) T198A probably benign Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pnpla2 G A 7: 141,037,324 (GRCm39) R109H probably benign Het
Polh G A 17: 46,505,181 (GRCm39) T145I probably damaging Het
Polr3d A T 14: 70,677,479 (GRCm39) V299E probably benign Het
Polr3e C T 7: 120,540,011 (GRCm39) T586M probably benign Het
Rbm20 T A 19: 53,802,588 (GRCm39) F365L probably benign Het
Resf1 A G 6: 149,227,580 (GRCm39) T209A probably benign Het
Rnf213 G T 11: 119,326,831 (GRCm39) C1606F probably damaging Het
Sipa1l2 A G 8: 126,195,464 (GRCm39) V758A probably damaging Het
Slc22a16 T A 10: 40,463,603 (GRCm39) M451K probably damaging Het
Slc28a1 T C 7: 80,803,265 (GRCm39) S359P probably damaging Het
Slc45a1 G T 4: 150,728,505 (GRCm39) F99L probably damaging Het
Sp3 A T 2: 72,768,500 (GRCm39) N754K possibly damaging Het
Taf4b A T 18: 14,940,466 (GRCm39) Q315L probably damaging Het
Tcstv2a T A 13: 120,725,524 (GRCm39) W63R probably damaging Het
Tmprss15 A T 16: 78,818,342 (GRCm39) N544K probably benign Het
Tnfsf13b A G 8: 10,085,358 (GRCm39) I283V probably benign Het
Tnfsf14 T A 17: 57,497,605 (GRCm39) E209V possibly damaging Het
Uckl1 T G 2: 181,214,926 (GRCm39) S283R probably benign Het
Ush1g T C 11: 115,209,294 (GRCm39) D300G probably damaging Het
Virma C T 4: 11,528,621 (GRCm39) A1286V probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r59 A T 7: 41,695,629 (GRCm39) M261K possibly damaging Het
Vwf A T 6: 125,619,212 (GRCm39) K1297* probably null Het
Zdbf2 G A 1: 63,342,199 (GRCm39) E193K possibly damaging Het
Zfp759 T G 13: 67,286,830 (GRCm39) I127S 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
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
Predicted Primers PCR Primer
(F):5'- TGCCACTTGAGGGCCTAATGTTC -3'
(R):5'- AGCACTGTTCTGTGACCTGCTG -3'

Sequencing Primer
(F):5'- GCCTAATGTTCTCAGGTAAGCAG -3'
(R):5'- GTCTGCTGGTTCCAGATAGAAAC -3'
Posted On 2014-03-14