Incidental Mutation 'R9136:Dlgap4'
ID |
694003 |
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 |
068931-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R9136 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 156588075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 640
(E640K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000094]
[ENSMUST00000070782]
[ENSMUST00000099145]
[ENSMUST00000109566]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000131157]
[ENSMUST00000137356]
[ENSMUST00000146412]
[ENSMUST00000169464]
[ENSMUST00000171030]
[ENSMUST00000177013]
|
AlphaFold |
B1AZP2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000094
|
SMART Domains |
Protein: ENSMUSP00000000094 Gene: ENSMUSG00000061689
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
3 |
232 |
2.4e-81 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070782
AA Change: E657K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068745 Gene: ENSMUSG00000061689 AA Change: E657K
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: E118K
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096749 Gene: ENSMUSG00000061689 AA Change: E118K
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
|
SMART Domains |
Protein: ENSMUSP00000105194 Gene: ENSMUSG00000061689
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
1 |
285 |
2e-114 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109567
AA Change: E657K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105195 Gene: ENSMUSG00000061689 AA Change: E657K
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 |
possibly damaging
Transcript: ENSMUST00000109568
AA Change: E640K
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105196 Gene: ENSMUSG00000061689 AA Change: E640K
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 |
probably benign
Transcript: ENSMUST00000131157
|
SMART Domains |
Protein: ENSMUSP00000134941 Gene: ENSMUSG00000061689
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
1 |
110 |
2.2e-60 |
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 |
possibly damaging
Transcript: ENSMUST00000169464
AA Change: E657K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126980 Gene: ENSMUSG00000061689 AA Change: E657K
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: ENSMUST00000171030
|
SMART Domains |
Protein: ENSMUSP00000129756 Gene: ENSMUSG00000061689
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
1 |
266 |
8.7e-103 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (71/71) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
G |
17: 24,596,807 (GRCm39) |
Q420R |
probably benign |
Het |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Acsl5 |
A |
T |
19: 55,266,400 (GRCm39) |
K109N |
probably benign |
Het |
Agpat3 |
T |
C |
10: 78,120,893 (GRCm39) |
N95S |
probably damaging |
Het |
Akna |
C |
T |
4: 63,310,392 (GRCm39) |
D451N |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,392,278 (GRCm39) |
D1797E |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,959,962 (GRCm39) |
N691S |
probably damaging |
Het |
Arrdc1 |
A |
T |
2: 24,817,193 (GRCm39) |
|
probably benign |
Het |
Ccdc63 |
G |
A |
5: 122,259,146 (GRCm39) |
R251W |
probably damaging |
Het |
Cd70 |
T |
C |
17: 57,453,152 (GRCm39) |
T171A |
possibly damaging |
Het |
Cenpf |
A |
T |
1: 189,403,352 (GRCm39) |
S382T |
probably benign |
Het |
Cox5b-ps |
A |
C |
13: 21,685,587 (GRCm39) |
M1R |
probably null |
Het |
Ddx19b |
G |
T |
8: 111,734,906 (GRCm39) |
D487E |
probably benign |
Het |
Dtnbp1 |
A |
T |
13: 45,084,546 (GRCm39) |
F198Y |
possibly damaging |
Het |
Epha10 |
T |
C |
4: 124,796,427 (GRCm39) |
Y379H |
|
Het |
Eral1 |
A |
G |
11: 77,964,960 (GRCm39) |
I411T |
|
Het |
Exd1 |
C |
T |
2: 119,359,385 (GRCm39) |
G193E |
probably damaging |
Het |
Fat3 |
C |
A |
9: 15,833,738 (GRCm39) |
A105S |
|
Het |
Fbp2 |
C |
T |
13: 63,002,840 (GRCm39) |
V71M |
possibly damaging |
Het |
Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Grm5 |
G |
A |
7: 87,689,254 (GRCm39) |
V542I |
possibly damaging |
Het |
Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
Hspe1 |
G |
T |
1: 55,128,314 (GRCm39) |
K36N |
probably damaging |
Het |
Hypk |
T |
A |
2: 121,287,636 (GRCm39) |
L17* |
probably null |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Immt |
C |
T |
6: 71,851,403 (GRCm39) |
T588I |
probably damaging |
Het |
Kat2b |
T |
A |
17: 53,936,364 (GRCm39) |
S179T |
probably benign |
Het |
Krtap19-5 |
C |
T |
16: 88,693,246 (GRCm39) |
G22D |
unknown |
Het |
Lipk |
A |
G |
19: 33,999,830 (GRCm39) |
D153G |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,750,090 (GRCm39) |
V1000A |
probably benign |
Het |
Map3k7cl |
T |
C |
16: 87,391,227 (GRCm39) |
L117P |
probably damaging |
Het |
Meikin |
A |
G |
11: 54,285,464 (GRCm39) |
E167G |
possibly damaging |
Het |
Miox |
A |
G |
15: 89,220,740 (GRCm39) |
Y215C |
probably damaging |
Het |
Mthfd1 |
T |
G |
12: 76,350,649 (GRCm39) |
M677R |
probably damaging |
Het |
Ncoa7 |
G |
A |
10: 30,567,628 (GRCm39) |
S350L |
probably benign |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Nrg3 |
A |
T |
14: 38,119,262 (GRCm39) |
N403K |
possibly damaging |
Het |
Nup210 |
T |
C |
6: 91,020,830 (GRCm39) |
T955A |
possibly damaging |
Het |
Odf2l |
C |
A |
3: 144,851,698 (GRCm39) |
T82K |
|
Het |
Or10ag56 |
A |
G |
2: 87,139,219 (GRCm39) |
I49V |
possibly damaging |
Het |
Or1m1 |
T |
C |
9: 18,666,175 (GRCm39) |
Y252C |
probably damaging |
Het |
Or4c108 |
T |
A |
2: 88,804,113 (GRCm39) |
M41L |
probably benign |
Het |
Or8w1 |
A |
G |
2: 87,465,341 (GRCm39) |
V250A |
probably benign |
Het |
Otud7b |
T |
A |
3: 96,059,815 (GRCm39) |
|
probably benign |
Het |
Pcm1 |
C |
T |
8: 41,732,825 (GRCm39) |
S694L |
probably benign |
Het |
Pex11b |
T |
C |
3: 96,551,259 (GRCm39) |
L248P |
probably damaging |
Het |
Pira13 |
A |
T |
7: 3,826,285 (GRCm39) |
I236N |
|
Het |
Ppp3cb |
T |
C |
14: 20,581,867 (GRCm39) |
I49M |
probably benign |
Het |
Prorp |
C |
T |
12: 55,350,727 (GRCm39) |
P12L |
probably benign |
Het |
Prr14l |
A |
C |
5: 32,986,080 (GRCm39) |
C1138W |
|
Het |
Prss1 |
T |
G |
6: 41,438,280 (GRCm39) |
|
probably benign |
Het |
Psg22 |
T |
A |
7: 18,460,811 (GRCm39) |
I480K |
probably damaging |
Het |
Rgs21 |
A |
C |
1: 144,412,653 (GRCm39) |
F57C |
|
Het |
Rngtt |
T |
A |
4: 33,404,218 (GRCm39) |
D468E |
probably damaging |
Het |
Rorb |
A |
T |
19: 18,934,686 (GRCm39) |
V313E |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,697,203 (GRCm39) |
F1736S |
probably damaging |
Het |
Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
Slitrk1 |
T |
C |
14: 109,148,981 (GRCm39) |
I577V |
|
Het |
Sos2 |
C |
A |
12: 69,633,446 (GRCm39) |
E1143D |
possibly damaging |
Het |
Spen |
T |
C |
4: 141,249,623 (GRCm39) |
D55G |
unknown |
Het |
Stoml1 |
C |
A |
9: 58,168,236 (GRCm39) |
Q316K |
possibly damaging |
Het |
Synpo2l |
C |
T |
14: 20,715,857 (GRCm39) |
A243T |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,473,125 (GRCm39) |
I974F |
possibly damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,067,092 (GRCm39) |
I545F |
possibly damaging |
Het |
Unc13a |
T |
C |
8: 72,104,994 (GRCm39) |
D756G |
possibly damaging |
Het |
Uqcrc1 |
A |
G |
9: 108,776,973 (GRCm39) |
N393D |
possibly damaging |
Het |
Vcl |
T |
A |
14: 21,057,344 (GRCm39) |
D505E |
probably benign |
Het |
Vwf |
A |
T |
6: 125,576,356 (GRCm39) |
|
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,204,816 (GRCm39) |
H207R |
|
Het |
Zc3h7b |
A |
G |
15: 81,653,312 (GRCm39) |
D72G |
probably damaging |
Het |
Zfp507 |
A |
T |
7: 35,475,883 (GRCm39) |
D813E |
probably damaging |
Het |
Zfp704 |
T |
C |
3: 9,509,324 (GRCm39) |
S374G |
probably benign |
Het |
Zfp97 |
G |
A |
17: 17,365,215 (GRCm39) |
C238Y |
probably benign |
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 |
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 |
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'- GAGTCTGCTCAGGATACCTACC -3'
(R):5'- TTAGCCACTTGGGGCAGATG -3'
Sequencing Primer
(F):5'- GGATACCTACCTGGACAGTCAAG -3'
(R):5'- GGCAGATGCACCAGAATAGAC -3'
|
Posted On |
2022-01-20 |