Incidental Mutation 'IGL01287:Dlg3'
ID72759
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: 0.571) question?
Stock #IGL01287
Quality Score
Status
ChromosomeX
Chromosomal Location100767722-100818410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100807242 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 587 (I587T)
Ref Sequence ENSEMBL: ENSMUSP00000000901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000901] [ENSMUST00000087984] [ENSMUST00000113735] [ENSMUST00000113736]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000901
AA Change: I587T

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: I587T

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: I605T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: I605T

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: I250T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881
AA Change: I250T

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 possibly damaging
Transcript: ENSMUST00000113736
AA Change: I605T

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: I605T

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,257,757 K445E probably damaging Het
1700061G19Rik C T 17: 56,882,203 Q204* probably null Het
Abca15 A T 7: 120,332,858 probably benign Het
Acvr1c A T 2: 58,280,242 C371* probably null Het
AI464131 T A 4: 41,498,923 I236F possibly damaging Het
Brs3 T C X: 57,047,367 probably benign Het
Car14 C T 3: 95,899,559 V198M possibly damaging Het
Cenpc1 G A 5: 86,022,454 R704* probably null Het
Crybg1 C T 10: 43,992,494 R1396H possibly damaging Het
Cubn A G 2: 13,310,566 S3019P probably damaging Het
Cyp2j9 T C 4: 96,583,428 E222G probably benign Het
Defb50 C A 8: 21,831,171 T59K probably benign Het
Doc2a C T 7: 126,851,001 R204C probably damaging Het
Galc T C 12: 98,246,244 probably benign Het
Gm8257 A T 14: 44,655,343 F67I probably damaging Het
Hnrnpul1 A T 7: 25,726,898 N509K probably damaging Het
Iars2 T A 1: 185,296,428 I678F possibly damaging Het
Ifit1 A G 19: 34,648,133 E223G possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrp4 C A 2: 91,473,948 D157E probably damaging Het
Ltk T A 2: 119,755,705 T21S probably benign Het
Lvrn A T 18: 46,864,666 probably benign Het
Maob G A X: 16,712,642 A424V probably damaging Het
Myo1g C A 11: 6,515,856 V410F possibly damaging Het
Naxe T C 3: 88,056,674 H250R probably damaging Het
Nek5 T C 8: 22,111,183 N174S possibly damaging Het
Olfr1158 A G 2: 87,990,944 T278A probably benign Het
Olfr131 G T 17: 38,082,107 N290K probably damaging Het
Olfr606 C T 7: 103,451,795 R153W probably damaging Het
Pex1 A G 5: 3,606,027 T285A probably benign Het
Pfas A G 11: 69,001,260 S141P probably benign Het
Pmm1 T C 15: 81,955,744 T127A probably damaging Het
Proc C A 18: 32,123,820 probably benign Het
Ranbp9 T C 13: 43,480,504 E142G probably damaging Het
Recql4 C A 15: 76,709,912 probably benign Het
Robo4 C T 9: 37,413,040 P955S possibly damaging Het
Ryr3 T A 2: 112,709,073 N3274I probably damaging Het
Serpinb10 T C 1: 107,540,882 probably benign Het
Slc9c1 A T 16: 45,584,448 K848* probably null Het
Slfn5 A G 11: 82,956,981 T231A probably damaging Het
Syncrip T C 9: 88,456,607 probably benign Het
Syt16 A T 12: 74,266,739 T480S probably damaging Het
Taf1c G A 8: 119,601,192 T293M probably benign Het
Tbc1d5 T C 17: 50,813,798 D430G possibly damaging Het
Tbx18 T C 9: 87,724,331 T254A probably damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Usp17la T C 7: 104,861,315 S376P probably benign Het
Vmn1r19 A G 6: 57,405,194 D244G probably damaging Het
Vmn1r58 A T 7: 5,411,055 F59I probably benign Het
Vmn2r45 A T 7: 8,485,623 M136K probably benign Het
Vmn2r70 T A 7: 85,569,019 R24* probably null Het
Vmn2r75 T A 7: 86,148,593 I671F probably damaging Het
Other mutations in Dlg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Dlg3 APN X 100806593 missense probably damaging 0.99
IGL02225:Dlg3 APN X 100807188 missense probably benign 0.01
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 On2013-10-07