Incidental Mutation 'R4006:Iqsec3'
ID 311469
Institutional Source Beutler Lab
Gene Symbol Iqsec3
Ensembl Gene ENSMUSG00000040797
Gene Name IQ motif and Sec7 domain 3
Synonyms BRAG3, synarfGEF
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 121349892-121450637 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121353187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1144 (S1144P)
Ref Sequence ENSEMBL: ENSMUSP00000038653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046373] [ENSMUST00000129815] [ENSMUST00000152103]
AlphaFold Q3TES0
Predicted Effect probably damaging
Transcript: ENSMUST00000046373
AA Change: S1144P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: S1144P

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Blast:Sec7 285 354 5e-16 BLAST
low complexity region 367 386 N/A INTRINSIC
Blast:Sec7 476 507 2e-9 BLAST
low complexity region 508 531 N/A INTRINSIC
low complexity region 542 594 N/A INTRINSIC
low complexity region 598 628 N/A INTRINSIC
Sec7 652 843 9.53e-89 SMART
PH 874 985 4.03e0 SMART
low complexity region 1065 1105 N/A INTRINSIC
low complexity region 1126 1144 N/A INTRINSIC
low complexity region 1160 1178 N/A INTRINSIC
low complexity region 1182 1194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129815
SMART Domains Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152103
SMART Domains Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Meta Mutation Damage Score 0.1438 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging Het
Other mutations in Iqsec3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Iqsec3 APN 6 121,450,083 (GRCm39) missense possibly damaging 0.90
IGL01615:Iqsec3 APN 6 121,387,580 (GRCm39) missense probably damaging 1.00
IGL01728:Iqsec3 APN 6 121,389,623 (GRCm39) utr 3 prime probably benign
IGL01935:Iqsec3 APN 6 121,360,951 (GRCm39) missense probably damaging 1.00
IGL02146:Iqsec3 APN 6 121,360,916 (GRCm39) missense probably damaging 0.99
IGL02369:Iqsec3 APN 6 121,389,893 (GRCm39) utr 3 prime probably benign
IGL02684:Iqsec3 APN 6 121,389,900 (GRCm39) nonsense probably null
IGL03180:Iqsec3 APN 6 121,390,467 (GRCm39) utr 3 prime probably benign
R0032:Iqsec3 UTSW 6 121,450,089 (GRCm39) missense possibly damaging 0.71
R0088:Iqsec3 UTSW 6 121,450,248 (GRCm39) missense probably damaging 0.97
R0189:Iqsec3 UTSW 6 121,390,521 (GRCm39) utr 3 prime probably benign
R0193:Iqsec3 UTSW 6 121,387,683 (GRCm39) missense probably damaging 1.00
R0528:Iqsec3 UTSW 6 121,389,743 (GRCm39) utr 3 prime probably benign
R1885:Iqsec3 UTSW 6 121,405,326 (GRCm39) intron probably benign
R2698:Iqsec3 UTSW 6 121,390,430 (GRCm39) utr 3 prime probably benign
R3751:Iqsec3 UTSW 6 121,353,214 (GRCm39) missense probably benign 0.19
R3753:Iqsec3 UTSW 6 121,353,214 (GRCm39) missense probably benign 0.19
R3947:Iqsec3 UTSW 6 121,364,783 (GRCm39) nonsense probably null
R3948:Iqsec3 UTSW 6 121,364,783 (GRCm39) nonsense probably null
R3949:Iqsec3 UTSW 6 121,364,783 (GRCm39) nonsense probably null
R4007:Iqsec3 UTSW 6 121,353,187 (GRCm39) missense probably damaging 1.00
R4210:Iqsec3 UTSW 6 121,389,999 (GRCm39) utr 3 prime probably benign
R4535:Iqsec3 UTSW 6 121,356,977 (GRCm39) missense possibly damaging 0.80
R4567:Iqsec3 UTSW 6 121,364,721 (GRCm39) missense probably damaging 1.00
R5096:Iqsec3 UTSW 6 121,363,657 (GRCm39) missense probably damaging 1.00
R5135:Iqsec3 UTSW 6 121,360,878 (GRCm39) missense probably damaging 1.00
R5289:Iqsec3 UTSW 6 121,363,659 (GRCm39) critical splice acceptor site probably null
R5537:Iqsec3 UTSW 6 121,389,603 (GRCm39) utr 3 prime probably benign
R6555:Iqsec3 UTSW 6 121,361,178 (GRCm39) missense probably damaging 1.00
R6942:Iqsec3 UTSW 6 121,450,062 (GRCm39) missense probably damaging 1.00
R7122:Iqsec3 UTSW 6 121,450,317 (GRCm39) missense unknown
R7372:Iqsec3 UTSW 6 121,360,991 (GRCm39) nonsense probably null
R7394:Iqsec3 UTSW 6 121,363,569 (GRCm39) missense possibly damaging 0.47
R7559:Iqsec3 UTSW 6 121,364,739 (GRCm39) missense probably damaging 1.00
R7729:Iqsec3 UTSW 6 121,360,940 (GRCm39) missense probably damaging 1.00
R7815:Iqsec3 UTSW 6 121,450,317 (GRCm39) missense probably benign 0.17
R8114:Iqsec3 UTSW 6 121,390,458 (GRCm39) missense unknown
R8115:Iqsec3 UTSW 6 121,449,989 (GRCm39) missense unknown
R8197:Iqsec3 UTSW 6 121,389,971 (GRCm39) missense unknown
R8353:Iqsec3 UTSW 6 121,364,779 (GRCm39) missense probably damaging 1.00
R8453:Iqsec3 UTSW 6 121,364,779 (GRCm39) missense probably damaging 1.00
R8467:Iqsec3 UTSW 6 121,358,676 (GRCm39) missense probably benign 0.28
R8500:Iqsec3 UTSW 6 121,389,813 (GRCm39) utr 3 prime probably benign
R8514:Iqsec3 UTSW 6 121,390,521 (GRCm39) missense unknown
R8890:Iqsec3 UTSW 6 121,389,515 (GRCm39) missense probably damaging 1.00
R8909:Iqsec3 UTSW 6 121,390,118 (GRCm39) missense unknown
R8970:Iqsec3 UTSW 6 121,366,528 (GRCm39) missense probably damaging 1.00
R8993:Iqsec3 UTSW 6 121,390,272 (GRCm39) missense unknown
R9012:Iqsec3 UTSW 6 121,389,996 (GRCm39) missense unknown
R9534:Iqsec3 UTSW 6 121,367,077 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- CTAAGGGTAGAGCCTACACCAG -3'
(R):5'- TTCACAACAGGCTTCAAACG -3'

Sequencing Primer
(F):5'- GCAGAACTGATGAGGGTGGTTGT -3'
(R):5'- AGCACAGCCCCAAGTTGG -3'
Posted On 2015-04-29