Incidental Mutation 'R5917:Dlgap4'
ID |
461379 |
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 |
044114-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R5917 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 156546460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 376
(D376G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070782]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000169464]
|
AlphaFold |
B1AZP2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070782
AA Change: D376G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068745 Gene: ENSMUSG00000061689 AA Change: D376G
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 damaging
Transcript: ENSMUST00000109567
AA Change: D376G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105195 Gene: ENSMUSG00000061689 AA Change: D376G
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 damaging
Transcript: ENSMUST00000109568
AA Change: D376G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105196 Gene: ENSMUSG00000061689 AA Change: D376G
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 damaging
Transcript: ENSMUST00000169464
AA Change: D376G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126980 Gene: ENSMUSG00000061689 AA Change: D376G
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,832,516 (GRCm39) |
R1153* |
probably null |
Het |
Amdhd1 |
T |
C |
10: 93,360,332 (GRCm39) |
H409R |
possibly damaging |
Het |
Anks1b |
C |
T |
10: 90,412,803 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
C |
11: 4,631,506 (GRCm39) |
L649P |
probably benign |
Het |
Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
Clec4a4 |
A |
T |
6: 122,981,017 (GRCm39) |
K83N |
probably benign |
Het |
Comp |
T |
A |
8: 70,829,011 (GRCm39) |
|
probably null |
Het |
Cryz |
T |
A |
3: 154,327,403 (GRCm39) |
S144T |
probably benign |
Het |
Ctss |
A |
G |
3: 95,450,424 (GRCm39) |
D125G |
probably benign |
Het |
Dact1 |
G |
T |
12: 71,365,456 (GRCm39) |
V746L |
possibly damaging |
Het |
Dhx29 |
A |
G |
13: 113,099,377 (GRCm39) |
H1134R |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,615,749 (GRCm39) |
H1660L |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,512,808 (GRCm39) |
|
probably benign |
Het |
Fbxo30 |
A |
T |
10: 11,165,262 (GRCm39) |
|
probably null |
Het |
Fcrl2 |
T |
A |
3: 87,164,094 (GRCm39) |
H345L |
probably damaging |
Het |
Galnt11 |
C |
A |
5: 25,452,670 (GRCm39) |
|
probably null |
Het |
Il31ra |
A |
G |
13: 112,682,846 (GRCm39) |
C87R |
probably benign |
Het |
Itga4 |
A |
T |
2: 79,117,442 (GRCm39) |
Q416L |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,461,666 (GRCm39) |
T806S |
probably damaging |
Het |
Lama2 |
A |
G |
10: 27,066,693 (GRCm39) |
S1063P |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,924,028 (GRCm39) |
S479T |
probably benign |
Het |
Lgi4 |
C |
T |
7: 30,759,603 (GRCm39) |
T53M |
possibly damaging |
Het |
Limk1 |
A |
G |
5: 134,686,789 (GRCm39) |
F533L |
probably damaging |
Het |
Loxl1 |
A |
G |
9: 58,220,006 (GRCm39) |
L55P |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,697 (GRCm39) |
E1933G |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,409,912 (GRCm39) |
C447* |
probably null |
Het |
Mmrn1 |
T |
C |
6: 60,950,134 (GRCm39) |
|
probably null |
Het |
Or2a7 |
C |
T |
6: 43,151,646 (GRCm39) |
S242F |
probably damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,049 (GRCm39) |
I208N |
possibly damaging |
Het |
Or4d1 |
A |
T |
11: 87,805,215 (GRCm39) |
N172K |
probably damaging |
Het |
Otor |
A |
G |
2: 142,920,431 (GRCm39) |
I4M |
probably benign |
Het |
P2rx3 |
A |
T |
2: 84,865,591 (GRCm39) |
V18E |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,879,097 (GRCm39) |
V884A |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,619 (GRCm39) |
V643D |
probably damaging |
Het |
Pelo |
A |
G |
13: 115,225,930 (GRCm39) |
S176P |
possibly damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,183 (GRCm39) |
V380E |
probably benign |
Het |
Proc |
T |
A |
18: 32,260,513 (GRCm39) |
D204V |
probably benign |
Het |
Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,236,179 (GRCm39) |
F1500L |
probably damaging |
Het |
Rtl1 |
T |
G |
12: 109,558,087 (GRCm39) |
T1251P |
possibly damaging |
Het |
Sema6a |
T |
G |
18: 47,414,405 (GRCm39) |
I482L |
probably benign |
Het |
Smpdl3a |
T |
A |
10: 57,681,654 (GRCm39) |
|
probably null |
Het |
Strc |
T |
A |
2: 121,209,790 (GRCm39) |
M178L |
probably benign |
Het |
Taok1 |
A |
T |
11: 77,451,144 (GRCm39) |
M312K |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,416,750 (GRCm39) |
|
probably null |
Het |
Tle3 |
A |
G |
9: 61,316,190 (GRCm39) |
D296G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,191,485 (GRCm39) |
D498G |
probably benign |
Het |
Vars1 |
C |
A |
17: 35,231,491 (GRCm39) |
L672M |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,826,580 (GRCm39) |
T2866I |
probably damaging |
Het |
Zfp423 |
C |
A |
8: 88,508,860 (GRCm39) |
E370* |
probably null |
Het |
Zfp521 |
T |
A |
18: 13,978,612 (GRCm39) |
K600N |
probably damaging |
Het |
Zfp788 |
A |
G |
7: 41,298,572 (GRCm39) |
K351E |
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
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 |
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'- AGTGACTGGCTGGAAACCTG -3'
(R):5'- GGTGGCTTTTACAGGGTTCAAC -3'
Sequencing Primer
(F):5'- TGGAAACCTGGCTGGCTG -3'
(R):5'- GGCTTTTACAGGGTTCAACTCAAG -3'
|
Posted On |
2017-02-28 |