Incidental Mutation 'R0371:Iqsec1'
ID 30470
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 038577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R0371 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 90636578-90965766 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 90647385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101151] [ENSMUST00000101153] [ENSMUST00000212100]
AlphaFold Q8R0S2
Predicted Effect probably benign
Transcript: ENSMUST00000101151
SMART Domains Protein: ENSMUSP00000098710
Gene: ENSMUSG00000034312

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
SMART Domains Protein: ENSMUSP00000098712
Gene: ENSMUSG00000034312

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 benign
Transcript: ENSMUST00000212100
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency 99% (67/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 G A 16: 4,105,911 (GRCm39) R1068C probably benign Het
Afmid C T 11: 117,725,966 (GRCm39) probably benign Het
Aqr A G 2: 113,988,085 (GRCm39) V159A possibly damaging Het
Atp6v0d2 G C 4: 19,880,033 (GRCm39) T288R possibly damaging Het
Btnl1 T C 17: 34,600,031 (GRCm39) V178A probably damaging Het
Ccdc110 T A 8: 46,395,843 (GRCm39) M578K possibly damaging Het
Ccdc38 G T 10: 93,398,674 (GRCm39) E51* probably null Het
Cep290 T A 10: 100,354,426 (GRCm39) probably benign Het
Cilp2 T C 8: 70,334,256 (GRCm39) E914G probably damaging Het
Col6a2 T C 10: 76,450,307 (GRCm39) N208S probably benign Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Cyp4a12a C G 4: 115,183,880 (GRCm39) R229G probably damaging Het
Dach1 C T 14: 98,207,339 (GRCm39) V337M probably damaging Het
Dcbld2 A G 16: 58,271,186 (GRCm39) N321S probably benign Het
Enpep C T 3: 129,077,516 (GRCm39) probably null Het
Fat1 T C 8: 45,404,929 (GRCm39) L560P probably damaging Het
Fdxr T C 11: 115,166,915 (GRCm39) H58R possibly damaging Het
Filip1 G T 9: 79,767,373 (GRCm39) P147T probably damaging Het
Fras1 G A 5: 96,703,190 (GRCm39) E318K possibly damaging Het
Grk2 T C 19: 4,341,614 (GRCm39) probably null Het
Gvin-ps6 A T 7: 106,021,986 (GRCm39) C339S unknown Het
Havcr1 T C 11: 46,643,416 (GRCm39) I112T possibly damaging Het
Hjurp G A 1: 88,205,090 (GRCm39) probably benign Het
Ildr2 G A 1: 166,131,133 (GRCm39) V330I probably damaging Het
Ino80d T C 1: 63,097,115 (GRCm39) probably benign Het
Irf2bpl C T 12: 86,928,417 (GRCm39) W752* probably null Het
Kdr T A 5: 76,102,494 (GRCm39) H1211L probably benign Het
Klri2 A G 6: 129,709,106 (GRCm39) *249R probably null Het
Ktn1 A T 14: 47,961,460 (GRCm39) K1054* probably null Het
Lactb2 A G 1: 13,720,984 (GRCm39) S83P possibly damaging Het
Lrrc3b A T 14: 15,358,560 (GRCm38) C15* probably null Het
Mrs2 T C 13: 25,177,078 (GRCm39) I430V probably benign Het
Myo3b C T 2: 70,083,304 (GRCm39) probably benign Het
Nbas C T 12: 13,381,096 (GRCm39) T696I probably damaging Het
Nsun6 T C 2: 15,034,898 (GRCm39) D240G probably damaging Het
Nup107 T C 10: 117,599,674 (GRCm39) E615G probably damaging Het
Or2a25 A T 6: 42,888,872 (GRCm39) R138S probably benign Het
Or3a1d T A 11: 74,237,760 (GRCm39) I217F probably damaging Het
Or4k77 A T 2: 111,199,498 (GRCm39) I174L probably benign Het
Or5ac23 A G 16: 59,149,585 (GRCm39) C96R possibly damaging Het
Pabpc1l G A 2: 163,877,192 (GRCm39) V256M probably benign Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Sik1 T C 17: 32,067,958 (GRCm39) D409G probably benign Het
Slc22a22 A T 15: 57,113,131 (GRCm39) D369E possibly damaging Het
Smg1 T A 7: 117,767,523 (GRCm39) probably benign Het
Snap29 C A 16: 17,224,067 (GRCm39) D27E probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sorcs3 A G 19: 48,592,333 (GRCm39) I333V probably benign Het
Spag7 A G 11: 70,555,622 (GRCm39) M105T probably damaging Het
Srgap3 A T 6: 112,748,432 (GRCm39) S407T probably damaging Het
Supt6 T C 11: 78,113,983 (GRCm39) N854S probably benign Het
Syne2 T C 12: 75,980,619 (GRCm39) S1460P probably damaging Het
Taok3 C T 5: 117,344,752 (GRCm39) Q160* probably null Het
Tchhl1 C A 3: 93,376,884 (GRCm39) A27E probably damaging Het
Tet1 T C 10: 62,714,178 (GRCm39) D539G probably damaging Het
Tut1 T C 19: 8,940,137 (GRCm39) F374L probably damaging Het
Unc5c C T 3: 141,533,283 (GRCm39) P770S probably benign Het
Vmn2r101 T A 17: 19,810,394 (GRCm39) N393K probably benign Het
Vmn2r94 T A 17: 18,477,556 (GRCm39) H285L probably benign Het
Wdr62 G A 7: 29,941,583 (GRCm39) S700L possibly damaging Het
Wscd1 A G 11: 71,679,549 (GRCm39) D474G probably damaging Het
Zcchc7 A G 4: 44,762,190 (GRCm39) N106S probably damaging Het
Zfp345 G T 2: 150,313,983 (GRCm39) T518N possibly damaging Het
Zfp648 A T 1: 154,080,413 (GRCm39) S191C possibly damaging Het
Zkscan8 C T 13: 21,710,844 (GRCm39) E89K 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGGGCCAGATAGAGTCCTACAATG -3'
(R):5'- ATGCAACCTAAGTCCTGCCCAGAG -3'

Sequencing Primer
(F):5'- GTCCTACAATGTAGAGCACTCTGG -3'
(R):5'- GACAGAATCTCAGTGCCCCTG -3'
Posted On 2013-04-24