Incidental Mutation 'R6992:Dlgap4'
ID |
557107 |
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 |
045098-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R6992 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 156590860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135409
(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 null
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 null
Transcript: ENSMUST00000070782
|
SMART Domains |
Protein: ENSMUSP00000068745 Gene: ENSMUSG00000061689
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 null
Transcript: ENSMUST00000099145
|
SMART Domains |
Protein: ENSMUSP00000096749 Gene: ENSMUSG00000061689
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 null
Transcript: ENSMUST00000109566
|
SMART Domains |
Protein: ENSMUSP00000105194 Gene: ENSMUSG00000061689
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
1 |
285 |
2e-114 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109567
|
SMART Domains |
Protein: ENSMUSP00000105195 Gene: ENSMUSG00000061689
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 null
Transcript: ENSMUST00000109568
|
SMART Domains |
Protein: ENSMUSP00000105196 Gene: ENSMUSG00000061689
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 null
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 null
Transcript: ENSMUST00000137356
|
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000169464
|
SMART Domains |
Protein: ENSMUSP00000126980 Gene: ENSMUSG00000061689
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 null
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 null
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (64/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
Antxr2 |
T |
C |
5: 98,108,564 (GRCm39) |
T316A |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,266,118 (GRCm39) |
A282V |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
Il18rap |
G |
A |
1: 40,581,195 (GRCm39) |
E356K |
probably benign |
Het |
Inpp4a |
A |
T |
1: 37,428,772 (GRCm39) |
M699L |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,310,715 (GRCm39) |
Q74L |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,654,436 (GRCm39) |
S508P |
possibly damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,952 (GRCm39) |
Y550N |
probably damaging |
Het |
Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
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 |
|
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'- AGACAACCTTATGACCTTGTCC -3'
(R):5'- GCTTGATCTGGGCAATCTTG -3'
Sequencing Primer
(F):5'- GACAACCTTATGACCTTGTCCTTGTG -3'
(R):5'- CAATCTTGGGGGCCTGTC -3'
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Posted On |
2019-06-21 |