Incidental Mutation 'R5996:Dlg4'
| ID |
481141 |
| 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 |
044175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69908029-69938107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69908057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 6
(R6K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018718]
[ENSMUST00000102574]
[ENSMUST00000102575]
[ENSMUST00000108588]
[ENSMUST00000108589]
[ENSMUST00000123687]
[ENSMUST00000231506]
[ENSMUST00000232002]
[ENSMUST00000190940]
[ENSMUST00000134376]
[ENSMUST00000231415]
[ENSMUST00000133140]
[ENSMUST00000231221]
|
| AlphaFold |
Q62108 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018718
|
| SMART Domains |
Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
74 |
188 |
4.4e-22 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
192 |
245 |
5.1e-20 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
306 |
455 |
6.7e-41 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
321 |
445 |
2.8e-12 |
PFAM |
|
Blast:HisKA
|
460 |
557 |
6e-10 |
BLAST |
|
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102574
|
| SMART Domains |
Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
96 |
210 |
2.5e-25 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
214 |
316 |
5.5e-25 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
328 |
477 |
2.5e-41 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
343 |
467 |
8.7e-14 |
PFAM |
|
Blast:HisKA
|
482 |
579 |
7e-10 |
BLAST |
|
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102575
|
| SMART Domains |
Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
Pfam:Dishevelled
|
160 |
232 |
8.1e-27 |
PFAM |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108588
|
| SMART Domains |
Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
| 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 |
probably benign
Transcript: ENSMUST00000108589
AA Change: R6K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
AA Change: R6K
| 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: R6K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
AA Change: R6K
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
11 |
77 |
1.68e-9 |
SMART |
|
GuKc
|
113 |
205 |
7.37e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231506
AA Change: R6K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190940
|
| SMART Domains |
Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
Pfam:Dishevelled
|
160 |
232 |
8.1e-27 |
PFAM |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134376
|
| SMART Domains |
Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886
| Domain | Start | End | E-Value | Type |
|---|
|
MAGUK_N_PEST
|
10 |
97 |
3.39e-37 |
SMART |
|
PDZ
|
106 |
165 |
1.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133140
|
| SMART Domains |
Protein: ENSMUSP00000126707
Gene: ENSMUSG00000020886
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
13 |
92 |
3.38e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231221
|
| Meta Mutation Damage Score |
0.0776 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
97% (69/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
G |
11: 23,468,928 (GRCm39) |
M1T |
probably null |
Het |
| A2m |
T |
A |
6: 121,636,353 (GRCm39) |
W741R |
probably damaging |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Acan |
A |
G |
7: 78,761,068 (GRCm39) |
T1927A |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 110,812,869 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,985,265 (GRCm39) |
F865S |
probably benign |
Het |
| Ccr8 |
T |
A |
9: 119,923,529 (GRCm39) |
C215S |
probably damaging |
Het |
| Cd209b |
T |
C |
8: 3,968,688 (GRCm39) |
T314A |
probably benign |
Het |
| Cd244a |
T |
G |
1: 171,409,208 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,249,356 (GRCm39) |
E849G |
possibly damaging |
Het |
| Cep57 |
A |
G |
9: 13,721,175 (GRCm39) |
V268A |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,163,305 (GRCm39) |
S626P |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,367,152 (GRCm39) |
G477R |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,433,449 (GRCm39) |
D1498G |
unknown |
Het |
| Coro6 |
T |
C |
11: 77,357,322 (GRCm39) |
V177A |
probably benign |
Het |
| Crip3 |
T |
C |
17: 46,742,210 (GRCm39) |
S202P |
possibly damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,197,619 (GRCm39) |
C38R |
probably damaging |
Het |
| Cyp4f13 |
C |
T |
17: 33,148,447 (GRCm39) |
G327R |
possibly damaging |
Het |
| Dab2 |
C |
T |
15: 6,464,792 (GRCm39) |
Q415* |
probably null |
Het |
| Dennd5b |
A |
G |
6: 148,969,593 (GRCm39) |
F287L |
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,614,033 (GRCm39) |
K429E |
probably damaging |
Het |
| Fam107b |
T |
A |
2: 3,780,667 (GRCm39) |
|
probably null |
Het |
| Flt4 |
A |
T |
11: 49,541,897 (GRCm39) |
D1360V |
probably damaging |
Het |
| Gm1043 |
A |
T |
5: 37,317,168 (GRCm39) |
|
probably benign |
Het |
| Gm4894 |
A |
T |
9: 49,189,970 (GRCm39) |
I82L |
unknown |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gpr176 |
A |
C |
2: 118,114,385 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
T |
C |
15: 85,748,381 (GRCm39) |
L262P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,166,393 (GRCm39) |
W46R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,662,955 (GRCm39) |
Y557C |
probably benign |
Het |
| Kcnab2 |
A |
C |
4: 152,519,287 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
G |
A |
2: 63,014,441 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
T |
A |
1: 171,429,396 (GRCm39) |
Q230L |
probably damaging |
Het |
| Map2 |
C |
A |
1: 66,454,043 (GRCm39) |
H978N |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,388,732 (GRCm39) |
I225V |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,723,995 (GRCm39) |
N326D |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,844,537 (GRCm39) |
F85L |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,274,269 (GRCm39) |
P192L |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,923,704 (GRCm39) |
T97A |
probably benign |
Het |
| Mycbpap |
C |
T |
11: 94,404,420 (GRCm39) |
G121D |
probably benign |
Het |
| Nabp1 |
A |
G |
1: 51,510,544 (GRCm39) |
S153P |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,590,049 (GRCm39) |
F222I |
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,582,969 (GRCm39) |
V310A |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,991 (GRCm39) |
D180V |
probably benign |
Het |
| Pex6 |
C |
A |
17: 47,025,384 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
C |
A |
7: 140,839,015 (GRCm39) |
|
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,485,936 (GRCm39) |
T365A |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,499,672 (GRCm39) |
M519T |
probably benign |
Het |
| Rfx4 |
G |
A |
10: 84,675,881 (GRCm39) |
W32* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,723,666 (GRCm39) |
N4131S |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,745,306 (GRCm39) |
E580G |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,263,385 (GRCm39) |
D719G |
probably benign |
Het |
| Slfn9 |
A |
G |
11: 82,878,310 (GRCm39) |
I273T |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,205,037 (GRCm39) |
E781G |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,471,110 (GRCm39) |
P4686S |
possibly damaging |
Het |
| Stab1 |
G |
T |
14: 30,861,508 (GRCm39) |
R2500S |
probably benign |
Het |
| Stox2 |
A |
T |
8: 47,656,182 (GRCm39) |
M98K |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,213 (GRCm39) |
S633P |
probably damaging |
Het |
| Tex51 |
G |
T |
18: 32,595,545 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,491 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
T |
A |
17: 72,011,778 (GRCm39) |
F486I |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,797,113 (GRCm39) |
S140P |
possibly damaging |
Het |
| Ttc29 |
A |
T |
8: 79,003,525 (GRCm39) |
N247I |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,340,589 (GRCm39) |
E668D |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,061,117 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,341,994 (GRCm39) |
L1412I |
possibly damaging |
Het |
| Xrcc5 |
T |
A |
1: 72,349,617 (GRCm39) |
D15E |
probably damaging |
Het |
| Zfp661 |
T |
C |
2: 127,418,968 (GRCm39) |
K391E |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,977 (GRCm39) |
I106T |
probably benign |
Het |
| Zfyve9 |
A |
C |
4: 108,576,557 (GRCm39) |
S175A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAAGGTACACTATGCGG -3'
(R):5'- AGATCACTGTGCAGCACTG -3'
Sequencing Primer
(F):5'- GAGCAAAGTGTTACCTGGTGACC -3'
(R):5'- TCCAGACACCATGGATAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation