Incidental Mutation 'R0032:Iqsec3'
ID 59397
Institutional Source Beutler Lab
Gene Symbol Iqsec3
Ensembl Gene ENSMUSG00000040797
Gene Name IQ motif and Sec7 domain 3
Synonyms BRAG3, synarfGEF
MMRRC Submission 038326-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0032 (G1) of strain 731
Quality Score 155
Status Validated
Chromosome 6
Chromosomal Location 121349892-121450637 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121450089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000116317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046373] [ENSMUST00000129815] [ENSMUST00000151397] [ENSMUST00000152103]
AlphaFold Q3TES0
Predicted Effect unknown
Transcript: ENSMUST00000046373
AA Change: D145G
SMART Domains Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: D145G

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 possibly damaging
Transcript: ENSMUST00000129815
AA Change: D145G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797
AA Change: D145G

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000151397
AA Change: D145G
SMART Domains Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: D145G

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Blast:Sec7 288 354 2e-16 BLAST
low complexity region 367 386 N/A INTRINSIC
Blast:Sec7 476 507 9e-10 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
Pfam:Sec7 655 722 6.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152103
AA Change: D145G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797
AA Change: D145G

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Meta Mutation Damage Score 0.1809 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,959,156 (GRCm39) T97S probably benign Het
Adcy1 T C 11: 7,094,729 (GRCm39) S552P possibly damaging Het
Arrb1 T C 7: 99,231,472 (GRCm39) F9L probably damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
C2cd3 T A 7: 100,093,652 (GRCm39) probably benign Het
Ccbe1 T G 18: 66,424,723 (GRCm39) T35P possibly damaging Het
Cct6b G T 11: 82,644,469 (GRCm39) T202K possibly damaging Het
Cd86 A T 16: 36,441,235 (GRCm39) S77R probably damaging Het
Cdk5rap3 A T 11: 96,799,579 (GRCm39) L412Q possibly damaging Het
Cdsn G A 17: 35,866,452 (GRCm39) G327D probably damaging Het
Cfap54 C T 10: 92,768,559 (GRCm39) R188H probably benign Het
Clca3a2 T A 3: 144,522,494 (GRCm39) I176F probably benign Het
Cop1 T C 1: 159,152,606 (GRCm39) probably null Het
Cpne8 T A 15: 90,453,771 (GRCm39) probably benign Het
Ctsg T A 14: 56,339,196 (GRCm39) I21F probably damaging Het
Cyp2j9 T G 4: 96,457,043 (GRCm39) N476T possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dennd4c T C 4: 86,746,387 (GRCm39) probably null Het
Des A G 1: 75,338,810 (GRCm39) E195G possibly damaging Het
Dicer1 A T 12: 104,671,057 (GRCm39) L995* probably null Het
Dnah10 A G 5: 124,877,955 (GRCm39) K2623R possibly damaging Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Dnmbp A C 19: 43,891,158 (GRCm39) L203R probably damaging Het
Eif4g1 C T 16: 20,504,648 (GRCm39) S829F probably damaging Het
Enkur T C 2: 21,194,115 (GRCm39) I153V probably benign Het
Epb41l3 G T 17: 69,517,379 (GRCm39) probably null Het
Erf T C 7: 24,944,500 (GRCm39) Y277C possibly damaging Het
Fcsk G A 8: 111,618,735 (GRCm39) T341M possibly damaging Het
Fstl5 T A 3: 76,555,742 (GRCm39) probably benign Het
Galnt16 T C 12: 80,639,243 (GRCm39) V419A probably damaging Het
Gm10226 A G 17: 21,910,963 (GRCm39) D66G possibly damaging Het
Gm15821 T A 17: 34,431,199 (GRCm39) probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Impdh2 A G 9: 108,438,860 (GRCm39) D71G probably damaging Het
Ipo11 A C 13: 106,970,971 (GRCm39) probably benign Het
Ipo8 A G 6: 148,712,209 (GRCm39) C261R probably damaging Het
Itga11 T C 9: 62,681,377 (GRCm39) F998L probably benign Het
Junb T C 8: 85,704,415 (GRCm39) H215R probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn3 CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG 3: 89,427,972 (GRCm39) probably benign Het
Krt73 T C 15: 101,702,487 (GRCm39) S459G probably benign Het
Krt74 T A 15: 101,669,887 (GRCm39) noncoding transcript Het
Meis3 C A 7: 15,916,210 (GRCm39) probably benign Het
Mlh3 A G 12: 85,292,523 (GRCm39) probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Naip6 C T 13: 100,439,745 (GRCm39) E341K probably benign Het
Nbeal2 G T 9: 110,466,936 (GRCm39) probably benign Het
Nfx1 T A 4: 41,015,321 (GRCm39) V842E probably benign Het
Oma1 T A 4: 103,223,209 (GRCm39) S465T possibly damaging Het
Opa1 A T 16: 29,433,887 (GRCm39) H574L probably damaging Het
Or10al2 T A 17: 37,983,378 (GRCm39) W155R probably damaging Het
Or6c210 T A 10: 129,496,269 (GRCm39) V198D probably benign Het
Or8c13 A G 9: 38,091,904 (GRCm39) C72R probably damaging Het
Otog T A 7: 45,937,637 (GRCm39) L1782* probably null Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcsk5 T C 19: 17,542,179 (GRCm39) N804S possibly damaging Het
Pde4a C A 9: 21,112,728 (GRCm39) probably benign Het
Pilra T A 5: 137,829,527 (GRCm39) D179V probably damaging Het
Piwil1 G A 5: 128,820,344 (GRCm39) S247N probably benign Het
Ppp2r1a G A 17: 21,165,846 (GRCm39) probably benign Het
Prss58 T G 6: 40,872,633 (GRCm39) T158P probably benign Het
Setmar T A 6: 108,053,377 (GRCm39) C290* probably null Het
Slc35e3 T C 10: 117,580,837 (GRCm39) M156V probably benign Het
Slc4a5 T A 6: 83,250,139 (GRCm39) I509N probably damaging Het
Slit2 G A 5: 48,414,198 (GRCm39) R938Q probably damaging Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Sycn C T 7: 28,240,717 (GRCm39) A128V possibly damaging Het
Synm C A 7: 67,383,675 (GRCm39) R1329M possibly damaging Het
Syt8 T C 7: 141,992,926 (GRCm39) V152A probably benign Het
Tcp10a T C 17: 7,604,306 (GRCm39) M247T probably benign Het
Tjp2 A G 19: 24,086,059 (GRCm39) L821S probably damaging Het
Tppp2 G T 14: 52,156,866 (GRCm39) R81L possibly damaging Het
Trim34b A G 7: 103,985,784 (GRCm39) D473G possibly damaging Het
Trpc3 A G 3: 36,698,405 (GRCm39) I618T probably damaging Het
Trpm5 A T 7: 142,638,978 (GRCm39) D264E probably damaging Het
Tuba8 A T 6: 121,202,863 (GRCm39) D392V probably benign Het
Vmn1r50 C A 6: 90,084,782 (GRCm39) P176T probably damaging Het
Vmn1r76 T C 7: 11,665,194 (GRCm39) I7V probably benign Het
Vmn2r26 T A 6: 124,016,858 (GRCm39) W441R possibly damaging Het
Vmn2r57 T C 7: 41,049,157 (GRCm39) probably null Het
Zc3h4 T A 7: 16,168,565 (GRCm39) D891E unknown Het
Zfp120 A T 2: 149,959,512 (GRCm39) V270E possibly damaging Het
Znhit1 G C 5: 137,013,901 (GRCm39) R8G 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
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
R4006:Iqsec3 UTSW 6 121,353,187 (GRCm39) missense probably damaging 1.00
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'- ACCTTCCAACGCGGATCTCAAG -3'
(R):5'- TTCAGGACCACGGACAGCTCATAC -3'

Sequencing Primer
(F):5'- AAGGCATTTTTGCCCGC -3'
(R):5'- GGACAGCTCATACCCGCTTC -3'
Posted On 2013-07-11