Incidental Mutation 'R4210:Iqsec3'
ID 319123
Institutional Source Beutler Lab
Gene Symbol Iqsec3
Ensembl Gene ENSMUSG00000040797
Gene Name IQ motif and Sec7 domain 3
Synonyms BRAG3, synarfGEF
MMRRC Submission 041039-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4210 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 121349892-121450637 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 121389999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: N491D
SMART Domains Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: N491D

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 unknown
Transcript: ENSMUST00000151397
AA Change: N491D
SMART Domains Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: N491D

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 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,490,222 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,708 (GRCm39) Y1076H probably damaging Het
Adamts7 C T 9: 90,076,063 (GRCm39) T1265I possibly damaging Het
Adgb T C 10: 10,283,209 (GRCm39) I166V probably benign Het
Axin2 T A 11: 108,833,402 (GRCm39) I529N possibly damaging Het
Bbof1 T C 12: 84,455,957 (GRCm39) M1T probably null Het
Clcc1 A T 3: 108,570,907 (GRCm39) Y105F possibly damaging Het
Cmpk2 G T 12: 26,519,570 (GRCm39) A74S probably benign Het
Colgalt1 G A 8: 72,075,350 (GRCm39) V419I probably benign Het
Crybg3 A G 16: 59,364,414 (GRCm39) S2403P probably damaging Het
D930048N14Rik G A 11: 51,545,632 (GRCm39) probably benign Het
Dnah7b T A 1: 46,176,578 (GRCm39) C733S possibly damaging Het
Drc1 G A 5: 30,504,490 (GRCm39) V211M possibly damaging Het
Ephx2 T C 14: 66,322,393 (GRCm39) T525A probably damaging Het
Eya4 A G 10: 23,102,698 (GRCm39) probably null Het
Foxc1 T C 13: 31,991,690 (GRCm39) F167S probably damaging Het
Fsip2 C T 2: 82,805,493 (GRCm39) T604I probably damaging Het
Gm6370 C A 5: 146,430,734 (GRCm39) F306L possibly damaging Het
Hmgcr A G 13: 96,796,729 (GRCm39) V187A probably damaging Het
Igkv9-129 T A 6: 67,817,242 (GRCm39) S114R possibly damaging Het
Ikbke T A 1: 131,191,085 (GRCm39) I519F probably damaging Het
Ikzf3 T C 11: 98,381,313 (GRCm39) Y89C probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Itga3 C A 11: 94,953,449 (GRCm39) V298L probably benign Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Larp7 T A 3: 127,340,603 (GRCm39) R112S probably benign Het
Lbh T A 17: 73,228,178 (GRCm39) probably null Het
Lrba G A 3: 86,267,433 (GRCm39) G1708S probably damaging Het
Lrig2 C T 3: 104,374,620 (GRCm39) V154I probably benign Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mast4 A T 13: 102,875,713 (GRCm39) F1318L probably damaging Het
Ncam2 T C 16: 81,323,991 (GRCm39) V545A probably benign Het
Numa1 T G 7: 101,658,945 (GRCm39) L356R probably damaging Het
Or2w1 A T 13: 21,317,607 (GRCm39) I221L possibly damaging Het
Or6n2 G A 1: 173,897,574 (GRCm39) A237T probably damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Pdlim4 T G 11: 53,946,744 (GRCm39) D181A possibly damaging Het
Phtf1 G A 3: 103,910,919 (GRCm39) probably null Het
Pik3r4 G A 9: 105,527,957 (GRCm39) A437T possibly damaging Het
Proser3 G A 7: 30,245,525 (GRCm39) probably benign Het
Rax T A 18: 66,068,152 (GRCm39) N318Y unknown Het
Rnf152 A G 1: 105,212,077 (GRCm39) V160A probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Sidt2 T C 9: 45,854,073 (GRCm39) T652A probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Sspo C A 6: 48,441,835 (GRCm39) H1948Q probably benign Het
Stap2 G T 17: 56,304,827 (GRCm39) Y318* probably null Het
Sytl1 T C 4: 132,980,876 (GRCm39) D421G probably damaging Het
Taar7e A T 10: 23,913,932 (GRCm39) I141F probably damaging Het
Taar7f T A 10: 23,925,921 (GRCm39) W172R probably damaging Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tenm3 C T 8: 48,802,439 (GRCm39) G374D probably damaging Het
Terf2 A G 8: 107,806,080 (GRCm39) S291P probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmod4 A G 3: 95,035,140 (GRCm39) D215G probably benign Het
Tnxb T C 17: 34,929,951 (GRCm39) I2895T possibly damaging Het
Tsbp1 G T 17: 34,679,257 (GRCm39) probably benign Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Uxs1 T A 1: 43,789,398 (GRCm39) H419L possibly damaging Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Vmn1r79 A G 7: 11,910,415 (GRCm39) Y99C possibly damaging Het
Zc3h14 A G 12: 98,751,658 (GRCm39) H199R probably damaging Het
Zfand2b A T 1: 75,146,454 (GRCm39) M110L probably benign Het
Zfp976 A G 7: 42,265,749 (GRCm39) F12S probably 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
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
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'- TCAGCTGCTCAGAGTTGTCG -3'
(R):5'- TGGAGCCTCAAGACCATGTG -3'

Sequencing Primer
(F):5'- GCTCAGAGTTGTCGCCTCC -3'
(R):5'- TCAAGACCATGTGCTCGCTG -3'
Posted On 2015-06-10