Incidental Mutation 'IGL02377:Dlg3'
ID 291184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlg3
Ensembl Gene ENSMUSG00000000881
Gene Name discs large MAGUK scaffold protein 3
Synonyms SAP102, Dlgh3, DLG3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # IGL02377
Quality Score
Status
Chromosome X
Chromosomal Location 99811328-99862016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99817007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 326 (Y326F)
Ref Sequence ENSEMBL: ENSMUSP00000000901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000901] [ENSMUST00000087984] [ENSMUST00000113735] [ENSMUST00000113736]
AlphaFold P70175
Predicted Effect possibly damaging
Transcript: ENSMUST00000000901
AA Change: Y326F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: Y326F

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 possibly damaging
Transcript: ENSMUST00000087984
AA Change: Y344F

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: Y344F

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
SMART Domains Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881

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: Y344F

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: Y344F

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: ENSMUST00000147863
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,937,689 (GRCm39) probably benign Het
Abca15 T C 7: 119,965,133 (GRCm39) probably benign Het
App T C 16: 84,879,719 (GRCm39) Q138R probably benign Het
Asah2 T A 19: 31,986,814 (GRCm39) I529F probably benign Het
Atp8b3 A G 10: 80,356,128 (GRCm39) S1195P probably benign Het
Brca1 A G 11: 101,415,149 (GRCm39) M134T probably benign Het
Cacna1s T C 1: 135,996,732 (GRCm39) L111P probably damaging Het
Capns2 A T 8: 93,628,215 (GRCm39) N35Y probably benign Het
Ccne1 A G 7: 37,798,415 (GRCm39) probably null Het
Cfap91 G T 16: 38,153,181 (GRCm39) probably benign Het
Csf1r G T 18: 61,257,540 (GRCm39) probably benign Het
Dipk2b T A X: 18,313,930 (GRCm39) I131F possibly damaging Het
Dnah8 T C 17: 31,013,770 (GRCm39) V3837A probably damaging Het
Dock10 A G 1: 80,562,711 (GRCm39) probably null Het
Emg1 A G 6: 124,681,620 (GRCm39) V208A probably benign Het
Eml6 T A 11: 29,727,282 (GRCm39) D1280V probably damaging Het
Ep400 T C 5: 110,868,691 (GRCm39) D911G unknown Het
Fam171a1 T C 2: 3,224,623 (GRCm39) probably null Het
Fcgbp T C 7: 27,806,395 (GRCm39) V2121A possibly damaging Het
Fggy G A 4: 95,511,714 (GRCm39) probably benign Het
Fignl1 G T 11: 11,752,845 (GRCm39) T70K possibly damaging Het
Fndc3b T C 3: 27,674,801 (GRCm39) E47G probably damaging Het
Frmd4a A G 2: 4,539,385 (GRCm39) K189E possibly damaging Het
Hpse T A 5: 100,839,199 (GRCm39) Y383F probably damaging Het
Ip6k2 T C 9: 108,681,798 (GRCm39) L197P probably damaging Het
Klf1 A C 8: 85,631,561 (GRCm39) H375P probably damaging Het
Krtap6-5 T A 16: 88,844,734 (GRCm39) probably benign Het
Lacc1 A T 14: 77,267,055 (GRCm39) S403T probably damaging Het
Lama3 A G 18: 12,689,807 (GRCm39) I2850V possibly damaging Het
Lats2 C T 14: 57,929,052 (GRCm39) R941Q probably damaging Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrig3 A T 10: 125,850,743 (GRCm39) H1103L probably benign Het
Lrrc40 G A 3: 157,742,365 (GRCm39) M1I probably null Het
Magee2 A T X: 103,900,399 (GRCm39) V84D possibly damaging Het
Msantd2 G A 9: 37,434,602 (GRCm39) V281I possibly damaging Het
Mycbpap A G 11: 94,394,076 (GRCm39) V340A probably damaging Het
Myh6 A T 14: 55,181,775 (GRCm39) M1842K probably benign Het
Mylk4 T C 13: 32,906,130 (GRCm39) D145G possibly damaging Het
Nfkbid C T 7: 30,124,689 (GRCm39) Q160* probably null Het
Or11h6 T A 14: 50,879,975 (GRCm39) probably null Het
Or2y1d A T 11: 49,321,859 (GRCm39) K185N probably damaging Het
Or5w1b T A 2: 87,475,630 (GRCm39) Y279F probably damaging Het
Or7e168 C T 9: 19,720,343 (GRCm39) S243F probably damaging Het
Or8c11 A T 9: 38,289,542 (GRCm39) T122S probably damaging Het
Or9q2 T G 19: 13,772,693 (GRCm39) Q94P possibly damaging Het
Pdgfrb A C 18: 61,213,404 (GRCm39) Q916P probably damaging Het
Pex14 T C 4: 149,050,743 (GRCm39) Q174R probably benign Het
Pogz T C 3: 94,786,321 (GRCm39) S970P probably damaging Het
Potegl T C 2: 23,102,667 (GRCm39) probably benign Het
Rabggta A G 14: 55,955,952 (GRCm39) V165A possibly damaging Het
Rdh10 G A 1: 16,176,438 (GRCm39) W66* probably null Het
Ripor2 T A 13: 24,879,549 (GRCm39) probably benign Het
Slc35g1 T A 19: 38,391,678 (GRCm39) M320K possibly damaging Het
Slc9a7 A G X: 20,068,963 (GRCm39) Y197H probably damaging Het
Smn1 T C 13: 100,272,192 (GRCm39) probably benign Het
Spam1 G A 6: 24,796,696 (GRCm39) G216S probably damaging Het
Spata31 A T 13: 65,068,194 (GRCm39) N114I probably damaging Het
Sptbn1 A T 11: 30,069,491 (GRCm39) V1615D possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc2 T A X: 40,914,355 (GRCm39) Q1005H possibly damaging Het
Thra G A 11: 98,652,742 (GRCm39) R189Q probably damaging Het
Trappc11 A T 8: 47,983,685 (GRCm39) probably null Het
Vps13d G T 4: 144,882,934 (GRCm39) H886Q probably damaging Het
Zfp157 G A 5: 138,445,859 (GRCm39) W71* probably null Het
Other mutations in Dlg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Dlg3 APN X 99,850,199 (GRCm39) missense probably damaging 0.99
IGL01287:Dlg3 APN X 99,850,848 (GRCm39) missense possibly damaging 0.51
IGL02225:Dlg3 APN X 99,850,794 (GRCm39) missense probably benign 0.01
IGL03268:Dlg3 APN X 99,853,493 (GRCm39) missense probably damaging 0.98
R2192:Dlg3 UTSW X 99,817,827 (GRCm39) missense probably damaging 0.98
R4290:Dlg3 UTSW X 99,840,288 (GRCm39) splice site probably benign
R4293:Dlg3 UTSW X 99,840,288 (GRCm39) splice site probably benign
R4294:Dlg3 UTSW X 99,840,288 (GRCm39) splice site probably benign
Posted On 2015-04-16