Incidental Mutation 'R7767:Dlgap4'
ID |
598277 |
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 |
045823-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R7767 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 156587973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 606
(R606W)
|
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: R623W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068745 Gene: ENSMUSG00000061689 AA Change: R623W
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: ENSMUST00000099145
AA Change: R84W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096749 Gene: ENSMUSG00000061689 AA Change: R84W
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: R623W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105195 Gene: ENSMUSG00000061689 AA Change: R623W
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: R606W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105196 Gene: ENSMUSG00000061689 AA Change: R606W
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 |
probably damaging
Transcript: ENSMUST00000169464
AA Change: R623W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126980 Gene: ENSMUSG00000061689 AA Change: R623W
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 |
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
Arhgef15 |
T |
C |
11: 68,844,673 (GRCm39) |
E308G |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,559,281 (GRCm39) |
D142G |
probably benign |
Het |
Atg13 |
A |
G |
2: 91,509,711 (GRCm39) |
S394P |
probably damaging |
Het |
Atp10a |
G |
C |
7: 58,308,597 (GRCm39) |
W132S |
probably damaging |
Het |
Bltp1 |
G |
T |
3: 36,974,436 (GRCm39) |
|
probably null |
Het |
Bod1l |
T |
A |
5: 41,974,099 (GRCm39) |
N2405I |
probably benign |
Het |
Capsl |
C |
T |
15: 9,462,770 (GRCm39) |
R137C |
probably damaging |
Het |
Cd109 |
T |
A |
9: 78,617,441 (GRCm39) |
M1313K |
probably damaging |
Het |
Chst13 |
G |
A |
6: 90,286,566 (GRCm39) |
A132V |
possibly damaging |
Het |
Cobl |
T |
C |
11: 12,362,117 (GRCm39) |
|
probably benign |
Het |
Coq9 |
A |
T |
8: 95,577,214 (GRCm39) |
E193V |
probably benign |
Het |
Cpd |
T |
A |
11: 76,704,385 (GRCm39) |
I410F |
probably benign |
Het |
Cyth3 |
T |
G |
5: 143,693,229 (GRCm39) |
V351G |
probably damaging |
Het |
Dcdc2c |
T |
C |
12: 28,520,256 (GRCm39) |
K607E |
|
Het |
Dcp1a |
T |
C |
14: 30,201,775 (GRCm39) |
|
probably null |
Het |
Dennd3 |
A |
G |
15: 73,394,079 (GRCm39) |
I35V |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
Erbin |
A |
G |
13: 103,995,907 (GRCm39) |
L265P |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,291,134 (GRCm39) |
D847G |
probably damaging |
Het |
Esyt3 |
T |
G |
9: 99,207,024 (GRCm39) |
S342R |
probably benign |
Het |
Exoc2 |
A |
T |
13: 31,060,752 (GRCm39) |
I584K |
probably benign |
Het |
Fam240a |
T |
C |
9: 110,744,090 (GRCm39) |
R50G |
probably damaging |
Het |
Glis3 |
A |
T |
19: 28,241,360 (GRCm39) |
M858K |
probably benign |
Het |
Gls2 |
C |
T |
10: 128,030,998 (GRCm39) |
R86C |
unknown |
Het |
Gm10972 |
C |
A |
3: 94,550,901 (GRCm39) |
Y25* |
probably null |
Het |
H2-T10 |
A |
T |
17: 36,428,622 (GRCm39) |
M350K |
probably benign |
Het |
Has1 |
A |
T |
17: 18,070,792 (GRCm39) |
V43D |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,878,275 (GRCm39) |
S4609R |
probably benign |
Het |
Hmgcs2 |
A |
C |
3: 98,198,582 (GRCm39) |
T162P |
probably damaging |
Het |
Hspg2 |
G |
T |
4: 137,239,177 (GRCm39) |
C368F |
probably damaging |
Het |
Ighv11-1 |
A |
G |
12: 113,945,722 (GRCm39) |
S44P |
probably damaging |
Het |
Inppl1 |
A |
G |
7: 101,473,545 (GRCm39) |
V1035A |
probably benign |
Het |
Kmt2a |
C |
T |
9: 44,730,295 (GRCm39) |
V3341I |
unknown |
Het |
Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
Lrriq1 |
G |
C |
10: 103,051,815 (GRCm39) |
S312R |
probably damaging |
Het |
Map1a |
G |
A |
2: 121,132,517 (GRCm39) |
S1111N |
probably damaging |
Het |
Myo15a |
T |
C |
11: 60,392,922 (GRCm39) |
V1029A |
|
Het |
Nol11 |
T |
C |
11: 107,069,908 (GRCm39) |
H314R |
possibly damaging |
Het |
Nphs1 |
A |
T |
7: 30,162,733 (GRCm39) |
D404V |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,247,788 (GRCm39) |
V387A |
probably benign |
Het |
Or51r1 |
A |
T |
7: 102,220,971 (GRCm39) |
|
probably benign |
Het |
Pabpc2 |
T |
C |
18: 39,907,607 (GRCm39) |
Y291H |
possibly damaging |
Het |
Pcdh15 |
G |
A |
10: 74,322,088 (GRCm39) |
A1020T |
probably benign |
Het |
Pla2g4f |
A |
C |
2: 120,135,490 (GRCm39) |
S395A |
possibly damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,178,176 (GRCm39) |
Q17R |
probably damaging |
Het |
Prokr2 |
A |
T |
2: 132,215,996 (GRCm39) |
V155D |
probably damaging |
Het |
Pwwp2a |
T |
G |
11: 43,596,696 (GRCm39) |
C620W |
probably damaging |
Het |
Rabepk |
T |
C |
2: 34,675,605 (GRCm39) |
D175G |
probably damaging |
Het |
Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
Rgma |
C |
A |
7: 73,067,752 (GRCm39) |
L446I |
unknown |
Het |
Rnf212b |
T |
C |
14: 55,079,825 (GRCm39) |
S182P |
probably damaging |
Het |
Rnf6 |
C |
A |
5: 146,147,986 (GRCm39) |
R344I |
probably damaging |
Het |
Rnf6 |
T |
A |
5: 146,147,987 (GRCm39) |
R344* |
probably null |
Het |
Sgo1 |
A |
G |
17: 53,986,639 (GRCm39) |
I184T |
possibly damaging |
Het |
Sgpl1 |
A |
T |
10: 60,953,502 (GRCm39) |
I78N |
possibly damaging |
Het |
Snx13 |
T |
A |
12: 35,157,483 (GRCm39) |
Y510N |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,784,171 (GRCm39) |
E638K |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,428,316 (GRCm39) |
T349A |
probably damaging |
Het |
Sv2c |
C |
T |
13: 96,126,223 (GRCm39) |
S343N |
probably damaging |
Het |
Syne1 |
C |
A |
10: 5,283,560 (GRCm39) |
V1502F |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,283,632 (GRCm39) |
I1478F |
possibly damaging |
Het |
Tmem121 |
C |
T |
12: 113,151,992 (GRCm39) |
A70V |
probably damaging |
Het |
Tmem215 |
A |
G |
4: 40,474,042 (GRCm39) |
I40V |
possibly damaging |
Het |
Trim25 |
A |
G |
11: 88,899,943 (GRCm39) |
|
probably null |
Het |
Trio |
A |
G |
15: 27,889,504 (GRCm39) |
V534A |
unknown |
Het |
Tyr |
T |
A |
7: 87,142,218 (GRCm39) |
E114V |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,285,457 (GRCm39) |
T1998S |
probably benign |
Het |
Usp40 |
G |
T |
1: 87,909,900 (GRCm39) |
A518E |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,331,956 (GRCm39) |
|
probably null |
Het |
Vash1 |
T |
A |
12: 86,733,767 (GRCm39) |
F152L |
probably damaging |
Het |
Vsig10l |
C |
A |
7: 43,113,141 (GRCm39) |
P31Q |
probably damaging |
Het |
Xab2 |
C |
T |
8: 3,669,018 (GRCm39) |
E43K |
probably benign |
Het |
Zfp423 |
G |
A |
8: 88,507,512 (GRCm39) |
S944F |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,736,392 (GRCm39) |
D350E |
probably benign |
Het |
Zscan4e |
T |
G |
7: 11,041,461 (GRCm39) |
Q165P |
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 |
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 |
|
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'- TAGTGGCATATAAGAAGACCCCAC -3'
(R):5'- TAATTACACGCAGGCCGGTG -3'
Sequencing Primer
(F):5'- ACCGGTCCCTCCACGAAC -3'
(R):5'- CCGGTGCACAGAGTAGAC -3'
|
Posted On |
2019-11-26 |