Incidental Mutation 'IGL02225:Dlg3'
| ID |
285299 |
| 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: 0.569)
|
| Stock # |
IGL02225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
99811328-99862016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99850794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 232
(K232R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000901]
[ENSMUST00000087984]
[ENSMUST00000113735]
[ENSMUST00000113736]
|
| AlphaFold |
P70175 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000901
AA Change: K569R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: K569R
| Domain | Start | End | E-Value | Type |
|---|
|
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: K587R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: K587R
| Domain | Start | End | E-Value | Type |
|---|
|
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: K232R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881
AA Change: K232R
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000113736
AA Change: K587R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: K587R
| Domain | Start | End | E-Value | Type |
|---|
|
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,906,165 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
| Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,910 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
| Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
| Hnf1b |
T |
C |
11: 83,752,611 (GRCm39) |
L82P |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
| Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
| Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
| Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
| Snx1 |
G |
A |
9: 66,016,903 (GRCm39) |
P56L |
probably benign |
Het |
| Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
| Tbrg4 |
C |
A |
11: 6,574,094 (GRCm39) |
V43F |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
| Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,463,197 (GRCm39) |
V710D |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
| Zbed5 |
C |
T |
5: 129,930,974 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
probably damaging |
Het |
|
| Other mutations in Dlg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02377:Dlg3
|
APN |
X |
99,817,007 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
Incidental Mutation