Incidental Mutation 'R1169:Iqsec2'
ID101581
Institutional Source Beutler Lab
Gene Symbol Iqsec2
Ensembl Gene ENSMUSG00000041115
Gene NameIQ motif and Sec7 domain 2
Synonyms
MMRRC Submission 039242-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #R1169 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location152144268-152225236 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 152144731 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 87 (S87G)
Ref Sequence ENSEMBL: ENSMUSP00000108224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112604] [ENSMUST00000112605] [ENSMUST00000168786]
Predicted Effect probably benign
Transcript: ENSMUST00000112604
AA Change: S87G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000108223
Gene: ENSMUSG00000041115
AA Change: S87G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
coiled coil region 23 74 N/A INTRINSIC
low complexity region 167 174 N/A INTRINSIC
low complexity region 206 232 N/A INTRINSIC
low complexity region 369 382 N/A INTRINSIC
low complexity region 433 451 N/A INTRINSIC
low complexity region 514 539 N/A INTRINSIC
low complexity region 548 560 N/A INTRINSIC
low complexity region 600 615 N/A INTRINSIC
low complexity region 649 666 N/A INTRINSIC
low complexity region 696 720 N/A INTRINSIC
Sec7 750 941 2.19e-88 SMART
PH 972 1083 6.87e-3 SMART
Blast:Sec7 1091 1136 3e-18 BLAST
low complexity region 1137 1151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112605
AA Change: S87G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000108224
Gene: ENSMUSG00000041115
AA Change: S87G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
coiled coil region 23 74 N/A INTRINSIC
low complexity region 167 174 N/A INTRINSIC
low complexity region 206 232 N/A INTRINSIC
low complexity region 369 382 N/A INTRINSIC
low complexity region 433 451 N/A INTRINSIC
low complexity region 514 539 N/A INTRINSIC
low complexity region 548 560 N/A INTRINSIC
low complexity region 600 615 N/A INTRINSIC
low complexity region 649 666 N/A INTRINSIC
low complexity region 696 720 N/A INTRINSIC
Sec7 750 941 2.19e-88 SMART
PH 972 1083 6.87e-3 SMART
Blast:Sec7 1091 1136 4e-18 BLAST
low complexity region 1137 1151 N/A INTRINSIC
low complexity region 1201 1211 N/A INTRINSIC
low complexity region 1228 1253 N/A INTRINSIC
low complexity region 1273 1318 N/A INTRINSIC
low complexity region 1337 1349 N/A INTRINSIC
low complexity region 1392 1462 N/A INTRINSIC
low complexity region 1470 1482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168786
AA Change: S87G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000127249
Gene: ENSMUSG00000041115
AA Change: S87G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
coiled coil region 23 74 N/A INTRINSIC
low complexity region 167 174 N/A INTRINSIC
low complexity region 206 232 N/A INTRINSIC
low complexity region 369 382 N/A INTRINSIC
low complexity region 433 451 N/A INTRINSIC
low complexity region 514 539 N/A INTRINSIC
low complexity region 548 560 N/A INTRINSIC
low complexity region 600 615 N/A INTRINSIC
low complexity region 649 666 N/A INTRINSIC
low complexity region 696 720 N/A INTRINSIC
Sec7 750 941 2.19e-88 SMART
Blast:PH 972 1074 7e-61 BLAST
Blast:Sec7 1082 1127 4e-18 BLAST
low complexity region 1128 1142 N/A INTRINSIC
low complexity region 1192 1202 N/A INTRINSIC
low complexity region 1219 1244 N/A INTRINSIC
low complexity region 1264 1309 N/A INTRINSIC
low complexity region 1328 1340 N/A INTRINSIC
low complexity region 1383 1453 N/A INTRINSIC
low complexity region 1461 1473 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A G 2: 23,256,982 K275E possibly damaging Het
Abhd17a T C 10: 80,583,947 E275G probably damaging Het
Adam10 T A 9: 70,746,292 I123N probably damaging Het
Adam8 A T 7: 139,983,929 L715Q probably benign Het
Adcyap1r1 T A 6: 55,494,116 F418L probably damaging Het
Ankrd50 A T 3: 38,454,252 I1322K probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atxn7 T C 14: 14,095,468 S389P possibly damaging Het
C4b A T 17: 34,742,972 L100Q probably benign Het
Cacul1 G A 19: 60,580,408 A104V probably damaging Het
Camsap3 T C 8: 3,603,866 F512S probably damaging Het
Casp1 T C 9: 5,299,454 V61A possibly damaging Het
Chd1 T A 17: 15,735,732 F531Y probably damaging Het
Clec2h C T 6: 128,674,795 Q156* probably null Het
Clip2 T A 5: 134,492,250 E978V probably benign Het
Cnpy2 T G 10: 128,323,596 L34R probably damaging Het
Cog6 A T 3: 53,013,844 C114S probably benign Het
Col6a3 A T 1: 90,822,014 V366E possibly damaging Het
Col6a5 A G 9: 105,896,974 probably null Het
Dmbt1 G A 7: 131,074,524 probably null Het
Dok1 A G 6: 83,032,048 F218L possibly damaging Het
Dph7 T A 2: 24,966,571 N178K probably benign Het
Enam A T 5: 88,503,258 E800D probably damaging Het
Fads3 A T 19: 10,054,099 Q205L possibly damaging Het
Fbxo44 T C 4: 148,155,976 H265R probably benign Het
Gli1 T A 10: 127,338,451 S24C probably damaging Het
Gm4894 T A 9: 49,274,226 C43* probably null Het
Gpbp1l1 C T 4: 116,574,366 H74Y possibly damaging Het
H2-Eb2 T A 17: 34,333,357 F59I possibly damaging Het
Hspa14 T C 2: 3,498,124 N211S possibly damaging Het
Ifnlr1 T G 4: 135,705,108 F285C probably benign Het
Igf1r G T 7: 68,165,127 V259L probably benign Het
Igf2bp2 A T 16: 22,078,730 Y244* probably null Het
Ighg2c A T 12: 113,285,952 probably benign Het
Ighv8-14 A T 12: 115,808,455 probably null Het
Itsn2 A G 12: 4,639,694 K589R probably damaging Het
Khdc1a A C 1: 21,350,271 E38D possibly damaging Het
Krt42 T G 11: 100,263,345 probably null Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lpo T C 11: 87,817,317 N183S possibly damaging Het
Lrrc3 T A 10: 77,900,930 Y224F probably damaging Het
Ly6g6f T A 17: 35,083,264 D99V probably damaging Het
Lyplal1 T C 1: 186,114,334 I42V probably benign Het
Mis18bp1 G A 12: 65,143,283 Q793* probably null Het
Myh10 T G 11: 68,762,841 M346R probably damaging Het
Nav1 G T 1: 135,455,205 H1256Q probably damaging Het
Nbea A G 3: 55,968,323 V1642A probably benign Het
Olfr1066 A G 2: 86,455,587 I228T possibly damaging Het
Olfr1104 A G 2: 87,021,717 F276L probably damaging Het
Olfr1428 C T 19: 12,109,489 R19H probably benign Het
Olfr870 T C 9: 20,171,058 N171S probably benign Het
Orm3 G A 4: 63,357,848 V166M probably damaging Het
Oxct1 T A 15: 4,091,226 I264N probably damaging Het
Paox G A 7: 140,126,331 V55I probably benign Het
Pde4d C A 13: 109,950,928 probably null Het
Pnliprp1 A G 19: 58,734,951 N258S probably damaging Het
Prl7b1 C A 13: 27,606,904 R66L possibly damaging Het
Ptpre G T 7: 135,667,612 C261F probably benign Het
Rho C G 6: 115,932,238 N78K probably damaging Het
Rnf17 A G 14: 56,514,165 N1487D possibly damaging Het
Ryr3 G A 2: 112,733,014 T2922I probably benign Het
Saxo2 A C 7: 82,635,171 F160V possibly damaging Het
Sbf2 A T 7: 110,310,184 Y1786N probably benign Het
Sdad1 A T 5: 92,298,233 V280E probably benign Het
Sgsm1 T C 5: 113,279,485 D90G probably damaging Het
Siglec1 A T 2: 131,074,827 D1169E probably damaging Het
Sim1 T A 10: 50,981,522 V456E probably benign Het
Skint8 T A 4: 111,928,513 I52N possibly damaging Het
Slc27a1 C A 8: 71,580,653 R280S probably benign Het
Slc9a3 G A 13: 74,150,743 V94I probably damaging Het
Sorcs2 C A 5: 36,027,925 V936L possibly damaging Het
Syce1 A G 7: 140,778,207 F255S probably benign Het
Tmc7 G A 7: 118,551,260 S350L probably benign Het
Tmem200a T A 10: 25,994,348 I8F probably damaging Het
Trip6 T C 5: 137,311,920 H322R probably benign Het
Vmn2r72 A T 7: 85,751,309 N177K probably benign Het
Wdr66 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,254,610 probably benign Het
Other mutations in Iqsec2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0193:Iqsec2 UTSW X 152223403 missense probably benign 0.33
R0675:Iqsec2 UTSW X 152204124 missense possibly damaging 0.76
R1171:Iqsec2 UTSW X 152144731 missense probably benign 0.01
R4395:Iqsec2 UTSW X 152209053 missense probably damaging 0.98
R4397:Iqsec2 UTSW X 152209053 missense probably damaging 0.98
R4553:Iqsec2 UTSW X 152211281 missense probably benign 0.03
X0026:Iqsec2 UTSW X 152209650 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15