Incidental Mutation 'R3874:Dlgap4'
| ID |
276706 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R3874 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156591267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 818
(S818P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000094]
[ENSMUST00000070782]
[ENSMUST00000099145]
[ENSMUST00000109566]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000169464]
[ENSMUST00000131157]
[ENSMUST00000171030]
[ENSMUST00000137356]
[ENSMUST00000146412]
[ENSMUST00000177013]
|
| AlphaFold |
B1AZP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000094
AA Change: S141P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000000094
Gene: ENSMUSG00000061689
AA Change: S141P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
3 |
232 |
2.4e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070782
AA Change: S832P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: S832P
| 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: S296P
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: S296P
| 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: S128P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105194
Gene: ENSMUSG00000061689
AA Change: S128P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
285 |
2e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109567
AA Change: S832P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: S832P
| 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: S818P
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: S818P
| 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: S835P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: S835P
| 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: ENSMUST00000131157
AA Change: S11P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134941
Gene: ENSMUSG00000061689
AA Change: S11P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
110 |
2.2e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171030
AA Change: S128P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129756
Gene: ENSMUSG00000061689
AA Change: S128P
| 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: ENSMUST00000146412
|
| SMART Domains |
Protein: ENSMUSP00000135156
Gene: ENSMUSG00000061689
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GKAP
|
1 |
122 |
3.4e-23 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0868 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130213A22Rik |
C |
A |
11: 69,012,301 (GRCm39) |
G26* |
probably null |
Het |
| Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
| Acox2 |
A |
G |
14: 8,248,061 (GRCm38) |
I407T |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,567,520 (GRCm39) |
N408D |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,708,925 (GRCm39) |
T39S |
probably benign |
Het |
| Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,386,790 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
A |
G |
8: 120,462,035 (GRCm39) |
I303V |
possibly damaging |
Het |
| Bpifc |
C |
T |
10: 85,827,118 (GRCm39) |
V144I |
probably benign |
Het |
| Camk4 |
A |
G |
18: 33,291,907 (GRCm39) |
E189G |
possibly damaging |
Het |
| Casz1 |
A |
G |
4: 149,024,046 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
T |
C |
15: 82,015,643 (GRCm39) |
V41A |
possibly damaging |
Het |
| Chrd |
A |
T |
16: 20,557,660 (GRCm39) |
T753S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,988,739 (GRCm39) |
D30G |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,562,735 (GRCm39) |
V125A |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,410,842 (GRCm39) |
F1687S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
| Dnai2 |
G |
T |
11: 114,623,781 (GRCm39) |
G15W |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,410,109 (GRCm39) |
I526V |
probably benign |
Het |
| Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
| Gli1 |
A |
T |
10: 127,166,088 (GRCm39) |
V1055E |
probably damaging |
Het |
| Hand2 |
G |
T |
8: 57,775,011 (GRCm39) |
A24S |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,942 (GRCm39) |
I249V |
probably benign |
Het |
| Hspa4l |
G |
A |
3: 40,727,074 (GRCm39) |
V492M |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,266,660 (GRCm39) |
I1916T |
probably damaging |
Het |
| Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
| Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,375,345 (GRCm39) |
L353H |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,615 (GRCm39) |
F47L |
probably benign |
Het |
| Klhl13 |
T |
C |
X: 23,151,415 (GRCm39) |
D21G |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
| Krt9 |
C |
T |
11: 100,081,675 (GRCm39) |
V285I |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,146 (GRCm39) |
R344G |
possibly damaging |
Het |
| Mier2 |
G |
T |
10: 79,377,631 (GRCm39) |
P439T |
possibly damaging |
Het |
| Mppe1 |
T |
A |
18: 67,358,957 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
G |
A |
18: 65,300,606 (GRCm39) |
A243T |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,797,043 (GRCm39) |
C934* |
probably null |
Het |
| Nsmce3 |
C |
T |
7: 64,521,916 (GRCm39) |
D251N |
probably damaging |
Het |
| Or10a49 |
C |
T |
7: 108,468,335 (GRCm39) |
V9M |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,525 (GRCm39) |
C192R |
probably damaging |
Het |
| Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,470 (GRCm39) |
I164T |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,034,067 (GRCm39) |
T6A |
probably benign |
Het |
| Picalm |
T |
A |
7: 89,838,427 (GRCm39) |
F493Y |
probably damaging |
Het |
| Prl7d1 |
A |
G |
13: 27,900,651 (GRCm39) |
M1T |
probably null |
Het |
| Prl8a1 |
T |
C |
13: 27,759,441 (GRCm39) |
K199E |
possibly damaging |
Het |
| Rims1 |
C |
T |
1: 22,498,740 (GRCm39) |
R764H |
probably damaging |
Het |
| Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
| Rufy2 |
T |
C |
10: 62,833,916 (GRCm39) |
L294P |
probably damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
| Slc22a30 |
G |
T |
19: 8,314,213 (GRCm39) |
T491K |
probably benign |
Het |
| Slc35b3 |
T |
C |
13: 39,127,044 (GRCm39) |
N20D |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,017,489 (GRCm39) |
F429L |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,887,636 (GRCm39) |
I270T |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,926,947 (GRCm39) |
I860F |
probably damaging |
Het |
| Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,584,443 (GRCm39) |
T22222P |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,338,494 (GRCm39) |
K652* |
probably null |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,954 (GRCm39) |
F278L |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,627,032 (GRCm39) |
F86L |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,856 (GRCm39) |
I70K |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,722,317 (GRCm39) |
A332T |
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,722,821 (GRCm39) |
C589S |
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 |
|
IGL02732:Dlgap4
|
APN |
2 |
156,591,243 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCGCAACCTCTCCTATG -3'
(R):5'- AGGGAGCTACTATCATAATGCTCATC -3'
Sequencing Primer
(F):5'- TGGAGACAACAGCGACCCTG -3'
(R):5'- TCATAATGCTCATCTGGGAAGAGGTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation