Incidental Mutation 'IGL01753:Dlg4'
ID 153163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlg4
Ensembl Gene ENSMUSG00000020886
Gene Name discs large MAGUK scaffold protein 4
Synonyms SAP90, PSD-95, Dlgh4, SAP90A, PSD95
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01753
Quality Score
Status
Chromosome 11
Chromosomal Location 69908029-69938107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69932173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 480 (F480I)
Ref Sequence ENSEMBL: ENSMUSP00000104230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018700] [ENSMUST00000108588] [ENSMUST00000108589] [ENSMUST00000123687] [ENSMUST00000132597] [ENSMUST00000231415] [ENSMUST00000231628] [ENSMUST00000231506] [ENSMUST00000231452] [ENSMUST00000231221]
AlphaFold Q62108
Predicted Effect probably benign
Transcript: ENSMUST00000018700
AA Change: F377I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018700
Gene: ENSMUSG00000020886
AA Change: F377I

DomainStartEndE-ValueType
MAGUK_N_PEST 10 64 1.36e-4 SMART
PDZ 73 152 3.38e-21 SMART
PDZ 168 247 1.12e-21 SMART
PDZ 321 394 4.13e-25 SMART
SH3 431 497 1.68e-9 SMART
GuKc 533 712 3.65e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108588
AA Change: F437I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
AA Change: F437I

DomainStartEndE-ValueType
MAGUK_N_PEST 10 61 1e-7 SMART
PDZ 70 149 3.38e-21 SMART
PDZ 165 244 1.12e-21 SMART
PDZ 318 391 4.13e-25 SMART
SH3 428 494 1.68e-9 SMART
GuKc 530 709 3.65e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108589
AA Change: F480I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
AA Change: F480I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
MAGUK_N_PEST 53 107 1.36e-4 SMART
PDZ 116 195 3.38e-21 SMART
PDZ 211 290 1.12e-21 SMART
PDZ 364 437 4.13e-25 SMART
SH3 474 540 1.68e-9 SMART
GuKc 576 755 3.65e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123687
AA Change: F480I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
AA Change: F480I

DomainStartEndE-ValueType
SH3 11 77 1.68e-9 SMART
GuKc 113 205 7.37e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131497
Predicted Effect probably benign
Transcript: ENSMUST00000132597
SMART Domains Protein: ENSMUSP00000114165
Gene: ENSMUSG00000020886

DomainStartEndE-ValueType
Pfam:MAGUK_N_PEST 2 43 5.8e-13 PFAM
PDZ 52 131 3.38e-21 SMART
PDZ 147 226 1.12e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000231415
AA Change: F434I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231628
AA Change: F377I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231506
AA Change: F477I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231452
AA Change: F377I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231221
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 (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severely impaired spatial learning, alterations in long-term potentiation and depression, and lack of hyperalgesia responses in a neuropathic pain model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,599,112 (GRCm39) F163L probably benign Het
Ap2b1 A G 11: 83,212,799 (GRCm39) T60A probably damaging Het
Casp3 A G 8: 47,082,776 (GRCm39) probably benign Het
Ces1d T C 8: 93,919,438 (GRCm39) Y118C probably damaging Het
Chuk T C 19: 44,087,015 (GRCm39) probably benign Het
Clec4b2 A T 6: 123,179,169 (GRCm39) Y157F possibly damaging Het
Crppa C T 12: 36,523,176 (GRCm39) L202F probably damaging Het
Dock8 T A 19: 25,038,656 (GRCm39) probably benign Het
Dsg1b T C 18: 20,530,906 (GRCm39) probably benign Het
Dstyk T C 1: 132,390,677 (GRCm39) Y830H probably damaging Het
Hook2 T C 8: 85,719,865 (GRCm39) probably null Het
Ighv2-9-1 T C 12: 113,733,548 (GRCm39) D91G probably damaging Het
Igkv12-41 T C 6: 69,835,510 (GRCm39) R81G probably damaging Het
Jmjd1c T A 10: 67,067,794 (GRCm39) S1766T probably damaging Het
Mdn1 G A 4: 32,708,483 (GRCm39) V1670I probably benign Het
Naa15 T C 3: 51,350,274 (GRCm39) F124L probably damaging Het
Nek2 C T 1: 191,557,598 (GRCm39) Q187* probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Pif1 G A 9: 65,500,590 (GRCm39) G505D probably damaging Het
Plxna4 T A 6: 32,287,413 (GRCm39) I495F probably benign Het
Ppp1r21 T C 17: 88,869,530 (GRCm39) probably benign Het
Prex1 T C 2: 166,444,802 (GRCm39) I282V probably benign Het
Pzp A T 6: 128,479,146 (GRCm39) I669N possibly damaging Het
Sipa1l2 T A 8: 126,180,031 (GRCm39) probably benign Het
Top2a T A 11: 98,898,100 (GRCm39) T689S probably damaging Het
Trerf1 T A 17: 47,626,362 (GRCm39) noncoding transcript Het
Uso1 T C 5: 92,300,777 (GRCm39) probably null Het
Vmn2r-ps158 T A 7: 42,674,139 (GRCm39) V399E probably damaging Het
Zcchc7 A G 4: 44,929,217 (GRCm39) I390V probably benign Het
Zfp90 C T 8: 107,150,782 (GRCm39) T165I probably benign Het
Other mutations in Dlg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Dlg4 APN 11 69,933,093 (GRCm39) missense probably damaging 1.00
IGL03097:Dlg4 UTSW 11 69,933,028 (GRCm39) missense probably damaging 1.00
R0103:Dlg4 UTSW 11 69,922,019 (GRCm39) missense probably damaging 1.00
R0103:Dlg4 UTSW 11 69,922,019 (GRCm39) missense probably damaging 1.00
R0628:Dlg4 UTSW 11 69,922,610 (GRCm39) missense probably damaging 1.00
R0734:Dlg4 UTSW 11 69,933,531 (GRCm39) missense probably damaging 1.00
R1587:Dlg4 UTSW 11 69,922,572 (GRCm39) missense possibly damaging 0.88
R1946:Dlg4 UTSW 11 69,930,401 (GRCm39) missense probably damaging 1.00
R2190:Dlg4 UTSW 11 69,933,430 (GRCm39) missense probably damaging 1.00
R2259:Dlg4 UTSW 11 69,922,196 (GRCm39) missense probably damaging 1.00
R2289:Dlg4 UTSW 11 69,917,752 (GRCm39) missense probably damaging 1.00
R2411:Dlg4 UTSW 11 69,932,755 (GRCm39) critical splice donor site probably null
R3161:Dlg4 UTSW 11 69,908,051 (GRCm39) missense probably damaging 0.99
R4059:Dlg4 UTSW 11 69,917,909 (GRCm39) missense probably benign
R4782:Dlg4 UTSW 11 69,917,780 (GRCm39) missense probably damaging 1.00
R4910:Dlg4 UTSW 11 69,921,751 (GRCm39) missense probably damaging 1.00
R5077:Dlg4 UTSW 11 69,917,852 (GRCm39) missense possibly damaging 0.71
R5557:Dlg4 UTSW 11 69,933,106 (GRCm39) missense probably damaging 1.00
R5996:Dlg4 UTSW 11 69,908,057 (GRCm39) missense probably benign 0.00
R6649:Dlg4 UTSW 11 69,914,779 (GRCm39) unclassified probably benign
R6653:Dlg4 UTSW 11 69,914,779 (GRCm39) unclassified probably benign
R7155:Dlg4 UTSW 11 69,908,042 (GRCm39) start codon destroyed probably null 0.00
R7284:Dlg4 UTSW 11 69,932,908 (GRCm39) nonsense probably null
R7683:Dlg4 UTSW 11 69,930,680 (GRCm39) missense possibly damaging 0.95
R7976:Dlg4 UTSW 11 69,930,008 (GRCm39) missense probably damaging 0.99
R8051:Dlg4 UTSW 11 69,922,468 (GRCm39) unclassified probably benign
R8408:Dlg4 UTSW 11 69,933,078 (GRCm39) missense possibly damaging 0.81
R8431:Dlg4 UTSW 11 69,930,388 (GRCm39) missense probably benign 0.36
R9283:Dlg4 UTSW 11 69,922,617 (GRCm39) nonsense probably null
R9451:Dlg4 UTSW 11 69,922,065 (GRCm39) missense probably damaging 1.00
Z1088:Dlg4 UTSW 11 69,921,956 (GRCm39) missense probably damaging 1.00
Z1176:Dlg4 UTSW 11 69,932,746 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04