Incidental Mutation 'IGL02732:Dlgap4'
| ID |
305518 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dlgap4
|
| Ensembl Gene |
ENSMUSG00000061689 |
| Gene Name |
DLG associated protein 4 |
| Synonyms |
PSD-95/SAP90 binding protein 4, Sapap4, DAP4, WBP16, SAP90/PSD-95-associated protein 4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
IGL02732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156591243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 120
(K120E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000094]
[ENSMUST00000070782]
[ENSMUST00000099145]
[ENSMUST00000109566]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000169464]
[ENSMUST00000146412]
[ENSMUST00000131157]
[ENSMUST00000171030]
[ENSMUST00000137356]
[ENSMUST00000177013]
|
| AlphaFold |
B1AZP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000094
AA Change: K133E
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689
AA Change: K133E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
3 |
232 |
2.4e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070782
AA Change: K824E
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: K824E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
638 |
989 |
1.2e-132 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099145
AA Change: K288E
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: K288E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
98 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
114 |
453 |
2.4e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109566
AA Change: K120E
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689
AA Change: K120E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
285 |
2e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109567
AA Change: K824E
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: K824E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
620 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
636 |
989 |
4.4e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109568
AA Change: K810E
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: K810E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
620 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
636 |
975 |
5.6e-126 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169464
AA Change: K827E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: K827E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
660 |
992 |
1.5e-148 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146412
AA Change: K120E
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135156
Gene: ENSMUSG00000061689
AA Change: K120E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
122 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131157
AA Change: K3E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689
AA Change: K3E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
110 |
2.2e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171030
AA Change: K120E
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689
AA Change: K120E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
266 |
8.7e-103 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177013
|
| SMART Domains |
Protein: ENSMUSP00000135409
Gene: ENSMUSG00000061689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. The encoded protein may play a role in synapse organization and neuronal signalling. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
C |
A |
13: 107,551,123 (GRCm39) |
|
noncoding transcript |
Het |
| Ash1l |
T |
A |
3: 88,873,535 (GRCm39) |
V106E |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,961,044 (GRCm39) |
T1618A |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,383,045 (GRCm39) |
S1732P |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,392,955 (GRCm39) |
I813N |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,184,902 (GRCm39) |
R1183* |
probably null |
Het |
| Cep170 |
C |
T |
1: 176,564,440 (GRCm39) |
E1479K |
probably damaging |
Het |
| Cep68 |
A |
T |
11: 20,186,109 (GRCm39) |
|
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,522,590 (GRCm39) |
V750I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,209,375 (GRCm39) |
T271A |
probably benign |
Het |
| Cyb5d1 |
A |
C |
11: 69,284,635 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
T |
C |
5: 9,186,098 (GRCm39) |
I75V |
possibly damaging |
Het |
| Fnip2 |
T |
C |
3: 79,373,004 (GRCm39) |
T995A |
probably damaging |
Het |
| Hecw2 |
G |
A |
1: 53,965,847 (GRCm39) |
|
probably benign |
Het |
| Il17rd |
T |
A |
14: 26,809,376 (GRCm39) |
F111I |
probably damaging |
Het |
| Itgb8 |
A |
C |
12: 119,127,088 (GRCm39) |
M722R |
probably benign |
Het |
| Maip1 |
A |
G |
1: 57,449,114 (GRCm39) |
D165G |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,287,227 (GRCm39) |
C26S |
probably benign |
Het |
| Mdp1 |
T |
C |
14: 55,896,678 (GRCm39) |
I128V |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,966,164 (GRCm39) |
F385L |
possibly damaging |
Het |
| Nebl |
C |
T |
2: 17,457,295 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,466,061 (GRCm39) |
E227G |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,652 (GRCm39) |
S227P |
probably damaging |
Het |
| Or51m1 |
T |
G |
7: 103,578,336 (GRCm39) |
M102R |
probably damaging |
Het |
| Or52e3 |
A |
C |
7: 102,869,447 (GRCm39) |
N174T |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,486 (GRCm39) |
H595L |
probably benign |
Het |
| Pate5 |
C |
T |
9: 35,750,345 (GRCm39) |
G109D |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 80,944,864 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
T |
C |
2: 28,355,192 (GRCm39) |
N91S |
probably damaging |
Het |
| Ptpn22 |
A |
T |
3: 103,793,349 (GRCm39) |
E500V |
probably damaging |
Het |
| Ptprg |
G |
T |
14: 12,225,617 (GRCm38) |
|
probably null |
Het |
| R3hdm2 |
T |
C |
10: 127,319,929 (GRCm39) |
F513L |
probably benign |
Het |
| Ramac |
T |
C |
7: 81,417,473 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
C |
A |
13: 76,059,056 (GRCm39) |
L247F |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,469,756 (GRCm39) |
S434P |
probably benign |
Het |
| Serpinb3d |
T |
A |
1: 107,010,526 (GRCm39) |
|
probably null |
Het |
| Sin3b |
T |
C |
8: 73,460,081 (GRCm39) |
F223L |
possibly damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,370,548 (GRCm39) |
V263A |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,596 (GRCm39) |
S207P |
possibly damaging |
Het |
| Sqor |
A |
T |
2: 122,641,682 (GRCm39) |
T1S |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,328,602 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
G |
13: 3,623,626 (GRCm39) |
V2108A |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,493,454 (GRCm39) |
V167A |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Trdn |
G |
A |
10: 33,344,195 (GRCm39) |
|
probably null |
Het |
| Trim5 |
T |
A |
7: 103,927,672 (GRCm39) |
E156V |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,478,890 (GRCm39) |
S273P |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,191,164 (GRCm39) |
V320A |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Dlgap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02164:Dlgap4
|
APN |
2 |
156,553,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Dlgap4
|
APN |
2 |
156,542,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Dlgap4
|
APN |
2 |
156,552,938 (GRCm39) |
splice site |
probably null |
|
|
IGL03220:Dlgap4
|
APN |
2 |
156,546,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E0374:Dlgap4
|
UTSW |
2 |
156,603,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Dlgap4
|
UTSW |
2 |
156,604,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Dlgap4
|
UTSW |
2 |
156,588,111 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0645:Dlgap4
|
UTSW |
2 |
156,603,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Dlgap4
|
UTSW |
2 |
156,587,898 (GRCm39) |
nonsense |
probably null |
|
|
R1472:Dlgap4
|
UTSW |
2 |
156,602,821 (GRCm39) |
nonsense |
probably null |
|
|
R1620:Dlgap4
|
UTSW |
2 |
156,591,056 (GRCm39) |
nonsense |
probably null |
|
|
R1636:Dlgap4
|
UTSW |
2 |
156,587,997 (GRCm39) |
nonsense |
probably null |
|
|
R2078:Dlgap4
|
UTSW |
2 |
156,604,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Dlgap4
|
UTSW |
2 |
156,604,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Dlgap4
|
UTSW |
2 |
156,543,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2348:Dlgap4
|
UTSW |
2 |
156,543,126 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3608:Dlgap4
|
UTSW |
2 |
156,590,332 (GRCm39) |
intron |
probably benign |
|
|
R3872:Dlgap4
|
UTSW |
2 |
156,591,267 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3873:Dlgap4
|
UTSW |
2 |
156,591,267 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3874:Dlgap4
|
UTSW |
2 |
156,591,267 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3897:Dlgap4
|
UTSW |
2 |
156,587,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Dlgap4
|
UTSW |
2 |
156,549,031 (GRCm39) |
missense |
probably benign |
|
|
R5286:Dlgap4
|
UTSW |
2 |
156,587,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Dlgap4
|
UTSW |
2 |
156,602,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Dlgap4
|
UTSW |
2 |
156,604,821 (GRCm39) |
makesense |
probably null |
|
|
R5691:Dlgap4
|
UTSW |
2 |
156,546,390 (GRCm39) |
missense |
probably benign |
|
|
R5741:Dlgap4
|
UTSW |
2 |
156,552,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Dlgap4
|
UTSW |
2 |
156,546,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Dlgap4
|
UTSW |
2 |
156,604,649 (GRCm39) |
splice site |
probably null |
|
|
R6992:Dlgap4
|
UTSW |
2 |
156,590,860 (GRCm39) |
splice site |
probably null |
|
|
R7082:Dlgap4
|
UTSW |
2 |
156,590,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7566:Dlgap4
|
UTSW |
2 |
156,604,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7698:Dlgap4
|
UTSW |
2 |
156,591,015 (GRCm39) |
nonsense |
probably null |
|
|
R7767:Dlgap4
|
UTSW |
2 |
156,587,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Dlgap4
|
UTSW |
2 |
156,547,802 (GRCm39) |
missense |
probably benign |
|
|
R7944:Dlgap4
|
UTSW |
2 |
156,591,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8366:Dlgap4
|
UTSW |
2 |
156,542,694 (GRCm39) |
nonsense |
probably null |
|
|
R8835:Dlgap4
|
UTSW |
2 |
156,587,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9136:Dlgap4
|
UTSW |
2 |
156,588,075 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9288:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9289:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9296:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9319:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9480:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9522:Dlgap4
|
UTSW |
2 |
156,546,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2015-04-16 |
Incidental Mutation