Incidental Mutation 'R8431:Dlg4'
| ID |
653763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg4
|
| Ensembl Gene |
ENSMUSG00000020886 |
| Gene Name |
discs large MAGUK scaffold protein 4 |
| Synonyms |
SAP90, PSD-95, Dlgh4, SAP90A, PSD95 |
| MMRRC Submission |
067776-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69908029-69938107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69930388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 388
(I388V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018700]
[ENSMUST00000108588]
[ENSMUST00000108589]
[ENSMUST00000123687]
[ENSMUST00000132597]
[ENSMUST00000231221]
[ENSMUST00000231415]
[ENSMUST00000231452]
[ENSMUST00000231506]
[ENSMUST00000231628]
|
| AlphaFold |
Q62108 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018700
AA Change: I328V
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018700
Gene: ENSMUSG00000020886
AA Change: I328V
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000108588
AA Change: I388V
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
AA Change: I388V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000108589
AA Change: I431V
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
AA Change: I431V
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000123687
AA Change: I431V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
AA Change: I431V
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
11 |
77 |
1.68e-9 |
SMART |
|
GuKc
|
113 |
205 |
7.37e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132597
|
| SMART Domains |
Protein: ENSMUSP00000114165
Gene: ENSMUSG00000020886
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000231221
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231415
AA Change: I385V
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231452
AA Change: I328V
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231506
AA Change: I428V
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231628
AA Change: I328V
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,694,873 (GRCm39) |
F273S |
|
Het |
| Abhd14b |
G |
T |
9: 106,328,612 (GRCm39) |
A78S |
probably benign |
Het |
| Adamtsl5 |
G |
A |
10: 80,181,228 (GRCm39) |
P51L |
probably benign |
Het |
| Adap1 |
A |
C |
5: 139,259,180 (GRCm39) |
F336V |
probably benign |
Het |
| Ankrd33b |
T |
C |
15: 31,305,248 (GRCm39) |
N172S |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,040,464 (GRCm39) |
E560G |
possibly damaging |
Het |
| Ascc2 |
A |
T |
11: 4,614,227 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Card6 |
A |
T |
15: 5,129,758 (GRCm39) |
F546Y |
probably damaging |
Het |
| Cby3 |
T |
G |
11: 50,250,084 (GRCm39) |
S2A |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,831 (GRCm39) |
S385P |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Cpne3 |
C |
A |
4: 19,526,316 (GRCm39) |
A408S |
probably damaging |
Het |
| Ctsr |
A |
C |
13: 61,308,304 (GRCm39) |
L280R |
probably damaging |
Het |
| D930048N14Rik |
GGG |
GGGG |
11: 51,541,946 (GRCm39) |
|
probably null |
Het |
| Ednrb |
T |
A |
14: 104,080,633 (GRCm39) |
I94F |
probably benign |
Het |
| Eftud2 |
C |
A |
11: 102,737,062 (GRCm39) |
A573S |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,811,910 (GRCm39) |
P2743Q |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Ier5 |
C |
A |
1: 154,974,306 (GRCm39) |
D291Y |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,558,070 (GRCm39) |
I223V |
unknown |
Het |
| Ifi208 |
T |
C |
1: 173,510,844 (GRCm39) |
V333A |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,667,509 (GRCm39) |
I313V |
probably benign |
Het |
| Klhl7 |
T |
C |
5: 24,343,473 (GRCm39) |
V263A |
possibly damaging |
Het |
| Klrg2 |
T |
C |
6: 38,605,122 (GRCm39) |
D314G |
probably benign |
Het |
| Lrr1 |
T |
C |
12: 69,225,470 (GRCm39) |
M382T |
possibly damaging |
Het |
| Ly6e |
A |
T |
15: 74,830,190 (GRCm39) |
Q48L |
probably benign |
Het |
| Marchf6 |
C |
T |
15: 31,505,892 (GRCm39) |
W43* |
probably null |
Het |
| Mepe |
A |
G |
5: 104,486,047 (GRCm39) |
T396A |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,174,440 (GRCm39) |
L229R |
possibly damaging |
Het |
| Ndufa10 |
C |
G |
1: 92,379,732 (GRCm39) |
|
probably null |
Het |
| Nek1 |
C |
A |
8: 61,487,066 (GRCm39) |
A272E |
possibly damaging |
Het |
| Nr1h2 |
T |
C |
7: 44,199,767 (GRCm39) |
Y384C |
probably damaging |
Het |
| Or4c118 |
C |
A |
2: 88,974,723 (GRCm39) |
V215F |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,975,078 (GRCm39) |
F294S |
unknown |
Het |
| Polr3e |
A |
T |
7: 120,530,528 (GRCm39) |
I173F |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,671,952 (GRCm39) |
R464* |
probably null |
Het |
| Ppp1r9a |
T |
A |
6: 5,115,456 (GRCm39) |
S860T |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,377,300 (GRCm39) |
Y93C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,673,894 (GRCm39) |
E3390G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,534,164 (GRCm39) |
T504A |
possibly damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,018,904 (GRCm39) |
D645A |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,235,170 (GRCm39) |
H130Y |
probably benign |
Het |
| Ston2 |
T |
A |
12: 91,615,071 (GRCm39) |
I446F |
probably damaging |
Het |
| Tcp11l1 |
G |
A |
2: 104,530,314 (GRCm39) |
P57S |
probably damaging |
Het |
| Th |
G |
T |
7: 142,446,801 (GRCm39) |
H488Q |
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,095,661 (GRCm39) |
I61N |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,049,481 (GRCm39) |
|
probably null |
Het |
| Xpnpep1 |
T |
C |
19: 52,983,937 (GRCm39) |
N596S |
probably benign |
Het |
|
| Other mutations in Dlg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Dlg4
|
APN |
11 |
69,932,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAGAGTCCTGTGCTCTTGG -3'
(R):5'- CGGCTATACTCTGAGAAAGGACAAG -3'
Sequencing Primer
(F):5'- GGGGCTCAATGGGCTCAAG -3'
(R):5'- CAAGAAGGTTCTGGAACTCTGCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation