Incidental Mutation 'IGL02225:Dlg3'
ID285299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlg3
Ensembl Gene ENSMUSG00000000881
Gene Namediscs large MAGUK scaffold protein 3
SynonymsDlgh3, DLG3, SAP102
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.655) question?
Stock #IGL02225
Quality Score
Status
ChromosomeX
Chromosomal Location100767722-100818410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100807188 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 232 (K232R)
Ref Sequence ENSEMBL: ENSMUSP00000109364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000901] [ENSMUST00000087984] [ENSMUST00000113735] [ENSMUST00000113736]
Predicted Effect probably benign
Transcript: ENSMUST00000000901
AA Change: K569R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: K569R

DomainStartEndE-ValueType
MAGUK_N_PEST 49 130 5.38e-8 SMART
PDZ 139 218 3.88e-21 SMART
PDZ 234 313 1.15e-23 SMART
PDZ 394 467 3.59e-25 SMART
low complexity region 484 495 N/A INTRINSIC
SH3 504 570 2.28e-11 SMART
GuKc 626 805 7.7e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087984
AA Change: K587R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: K587R

DomainStartEndE-ValueType
MAGUK_N_PEST 49 148 5.74e-26 SMART
PDZ 157 236 3.88e-21 SMART
PDZ 252 331 1.15e-23 SMART
PDZ 412 485 3.59e-25 SMART
low complexity region 502 513 N/A INTRINSIC
SH3 522 588 2.28e-11 SMART
low complexity region 629 638 N/A INTRINSIC
GuKc 658 837 7.7e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113735
AA Change: K232R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881
AA Change: K232R

DomainStartEndE-ValueType
low complexity region 8 33 N/A INTRINSIC
PDZ 57 130 3.59e-25 SMART
low complexity region 147 158 N/A INTRINSIC
SH3 167 233 2.28e-11 SMART
low complexity region 257 272 N/A INTRINSIC
low complexity region 292 301 N/A INTRINSIC
GuKc 321 500 7.7e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113736
AA Change: K587R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: K587R

DomainStartEndE-ValueType
MAGUK_N_PEST 49 148 5.74e-26 SMART
PDZ 157 236 3.88e-21 SMART
PDZ 252 331 1.15e-23 SMART
PDZ 412 485 3.59e-25 SMART
low complexity region 502 513 N/A INTRINSIC
SH3 522 588 2.28e-11 SMART
GuKc 644 823 7.7e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146772
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151020
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,256,741 probably null Het
Adgrf4 C A 17: 42,663,378 probably null Het
Aqp9 A T 9: 71,130,547 probably benign Het
C1s1 A G 6: 124,541,334 W8R probably benign Het
Cfap43 A G 19: 47,812,177 I345T probably benign Het
Cwh43 T C 5: 73,421,567 Y306H probably damaging Het
Cyp4a32 A T 4: 115,610,503 H228L probably benign Het
Ddx24 A G 12: 103,417,371 L607P probably damaging Het
Fgfr1op T G 17: 8,182,419 D257E probably damaging Het
Fig4 A G 10: 41,256,452 S453P probably benign Het
Frem1 A G 4: 82,940,506 L1556P probably damaging Het
Gjb2 T C 14: 57,100,188 K188E probably damaging Het
Gp1bb C A 16: 18,620,900 W148L possibly damaging Het
Grip1 C T 10: 120,049,453 T375M probably damaging Het
Hnf1b T C 11: 83,861,785 L82P probably damaging Het
Jakmip1 T C 5: 37,104,856 V333A probably damaging Het
Magi1 G T 6: 93,694,026 R1069S probably damaging Het
Myh15 A T 16: 49,091,163 E319D probably benign Het
Myl4 A G 11: 104,580,402 I42V probably benign Het
Obsl1 A T 1: 75,503,798 V394E probably damaging Het
Olfr1137 C T 2: 87,711,399 C169Y possibly damaging Het
Olfr376 T A 11: 73,375,078 F110I probably damaging Het
Olfr598 A T 7: 103,329,166 I227F probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Pkd1l3 T C 8: 109,638,678 Y1144H probably damaging Het
Pogz A G 3: 94,879,016 K972E probably damaging Het
Sccpdh A G 1: 179,679,699 T227A probably benign Het
Sec16b A G 1: 157,532,044 probably benign Het
Slain2 T A 5: 72,941,390 V163E probably damaging Het
Snx1 G A 9: 66,109,621 P56L probably benign Het
Snx14 G A 9: 88,413,524 T196I probably damaging Het
Sspo T C 6: 48,484,334 F3570L probably benign Het
Tbrg4 C A 11: 6,624,094 V43F probably damaging Het
Traf3ip3 A G 1: 193,195,100 I176T probably benign Het
Trbv20 T A 6: 41,188,307 probably benign Het
Ubc A T 5: 125,386,133 V710D probably benign Het
Ugt2b35 T C 5: 87,007,405 probably benign Het
Zbed5 C T 5: 129,902,133 probably null Het
Zc3hav1 T C 6: 38,340,341 Y108C probably damaging Het
Other mutations in Dlg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Dlg3 APN X 100806593 missense probably damaging 0.99
IGL01287:Dlg3 APN X 100807242 missense possibly damaging 0.51
IGL02377:Dlg3 APN X 100773401 missense possibly damaging 0.92
IGL03268:Dlg3 APN X 100809887 missense probably damaging 0.98
R2192:Dlg3 UTSW X 100774221 missense probably damaging 0.98
R4290:Dlg3 UTSW X 100796682 splice site probably benign
R4293:Dlg3 UTSW X 100796682 splice site probably benign
R4294:Dlg3 UTSW X 100796682 splice site probably benign
Posted On2015-04-16