Incidental Mutation 'R7944:Dlgap4'
ID |
649207 |
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 |
045990-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R7944 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 156591054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 747
(Y747N)
|
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 damaging
Transcript: ENSMUST00000000094
AA Change: Y70N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000000094 Gene: ENSMUSG00000061689 AA Change: Y70N
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
3 |
232 |
2.4e-81 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070782
AA Change: Y761N
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000068745 Gene: ENSMUSG00000061689 AA Change: Y761N
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: Y225N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096749 Gene: ENSMUSG00000061689 AA Change: Y225N
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 |
possibly damaging
Transcript: ENSMUST00000109566
AA Change: Y57N
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105194 Gene: ENSMUSG00000061689 AA Change: Y57N
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
1 |
285 |
2e-114 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109567
AA Change: Y761N
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105195 Gene: ENSMUSG00000061689 AA Change: Y761N
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: Y747N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105196 Gene: ENSMUSG00000061689 AA Change: Y747N
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 |
possibly damaging
Transcript: ENSMUST00000146412
AA Change: Y57N
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135156 Gene: ENSMUSG00000061689 AA Change: Y57N
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
1 |
122 |
3.4e-23 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169464
AA Change: Y764N
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126980 Gene: ENSMUSG00000061689 AA Change: Y764N
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 |
possibly damaging
Transcript: ENSMUST00000171030
AA Change: Y57N
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000129756 Gene: ENSMUSG00000061689 AA Change: Y57N
Domain | Start | End | E-Value | Type |
Pfam:GKAP
|
1 |
266 |
8.7e-103 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177013
AA Change: Y57N
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135409 Gene: ENSMUSG00000061689 AA Change: Y57N
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
T |
A |
8: 13,271,929 (GRCm39) |
R1610W |
probably damaging |
Het |
Aig1 |
A |
T |
10: 13,744,417 (GRCm39) |
M29K |
probably damaging |
Het |
Alms1 |
A |
T |
6: 85,618,362 (GRCm39) |
I2334F |
probably benign |
Het |
Ano6 |
A |
G |
15: 95,839,190 (GRCm39) |
Y423C |
probably damaging |
Het |
Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,010,670 (GRCm39) |
T346S |
probably benign |
Het |
Asb13 |
T |
A |
13: 3,699,413 (GRCm39) |
F204L |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,926,565 (GRCm39) |
V79A |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,645,909 (GRCm39) |
T1661A |
probably benign |
Het |
Ccna1 |
G |
T |
3: 54,958,010 (GRCm39) |
T165K |
possibly damaging |
Het |
Cdc42ep1 |
T |
A |
15: 78,731,973 (GRCm39) |
S139R |
possibly damaging |
Het |
Chil3 |
A |
C |
3: 106,057,464 (GRCm39) |
Y233* |
probably null |
Het |
Clec1a |
T |
C |
6: 129,409,150 (GRCm39) |
S159G |
probably benign |
Het |
Cltc |
A |
T |
11: 86,627,967 (GRCm39) |
N60K |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,266,163 (GRCm39) |
N2244S |
probably benign |
Het |
Ephb3 |
A |
G |
16: 21,040,434 (GRCm39) |
T811A |
probably damaging |
Het |
Fbxo21 |
T |
C |
5: 118,146,212 (GRCm39) |
Y612H |
possibly damaging |
Het |
Gale |
T |
C |
4: 135,692,982 (GRCm39) |
L75P |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,734,466 (GRCm39) |
S1279P |
probably benign |
Het |
Hdgfl3 |
T |
C |
7: 81,583,706 (GRCm39) |
Y22C |
possibly damaging |
Het |
Hmx3 |
T |
G |
7: 131,146,111 (GRCm39) |
I273S |
probably damaging |
Het |
Hpse2 |
T |
C |
19: 43,373,248 (GRCm39) |
N127S |
probably benign |
Het |
Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
Ifit1bl1 |
T |
A |
19: 34,571,224 (GRCm39) |
H411L |
probably benign |
Het |
Krtap27-1 |
T |
C |
16: 88,468,340 (GRCm39) |
N68S |
probably benign |
Het |
Ltbp1 |
T |
G |
17: 75,697,546 (GRCm39) |
*1713G |
probably null |
Het |
Lypd6b |
A |
G |
2: 49,833,612 (GRCm39) |
E84G |
probably damaging |
Het |
Meiosin |
T |
A |
7: 18,834,011 (GRCm39) |
K508N |
unknown |
Het |
Mrgprx2 |
T |
C |
7: 48,132,753 (GRCm39) |
T22A |
probably benign |
Het |
Mrto4 |
T |
C |
4: 139,077,000 (GRCm39) |
Y39C |
probably benign |
Het |
Mtmr4 |
T |
C |
11: 87,495,254 (GRCm39) |
V437A |
probably damaging |
Het |
Mylk4 |
T |
C |
13: 32,911,096 (GRCm39) |
T221A |
probably benign |
Het |
Neb |
T |
C |
2: 52,161,360 (GRCm39) |
D2144G |
probably damaging |
Het |
Nup210 |
T |
G |
6: 91,050,179 (GRCm39) |
D430A |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,984,235 (GRCm39) |
E1740V |
probably damaging |
Het |
Or8i2 |
A |
G |
2: 86,852,657 (GRCm39) |
V77A |
probably benign |
Het |
Panx1 |
A |
G |
9: 14,919,125 (GRCm39) |
C245R |
probably damaging |
Het |
Pcdha6 |
C |
A |
18: 37,101,965 (GRCm39) |
T386N |
possibly damaging |
Het |
Pcsk1 |
G |
A |
13: 75,280,211 (GRCm39) |
A679T |
probably benign |
Het |
Pdzph1 |
T |
C |
17: 59,239,455 (GRCm39) |
T958A |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,560,481 (GRCm39) |
Y363N |
possibly damaging |
Het |
Plekha5 |
T |
A |
6: 140,526,201 (GRCm39) |
H946Q |
possibly damaging |
Het |
Rhbg |
A |
G |
3: 88,155,007 (GRCm39) |
L168P |
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rtn2 |
T |
A |
7: 19,020,987 (GRCm39) |
S153R |
probably benign |
Het |
Serpinb1a |
C |
A |
13: 33,034,239 (GRCm39) |
A51S |
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,016,588 (GRCm39) |
T382S |
probably damaging |
Het |
Sgip1 |
T |
G |
4: 102,772,298 (GRCm39) |
M229R |
probably benign |
Het |
Slc1a5 |
C |
A |
7: 16,523,807 (GRCm39) |
R271S |
possibly damaging |
Het |
Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
Slc7a6 |
C |
T |
8: 106,906,239 (GRCm39) |
P157L |
possibly damaging |
Het |
Spsb1 |
T |
C |
4: 149,990,903 (GRCm39) |
I222V |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,951,079 (GRCm39) |
E410V |
probably damaging |
Het |
Trappc3 |
T |
C |
4: 126,168,999 (GRCm39) |
I163T |
probably damaging |
Het |
Treh |
T |
C |
9: 44,592,584 (GRCm39) |
V63A |
probably damaging |
Het |
Ttc6 |
T |
G |
12: 57,707,229 (GRCm39) |
L712R |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,715,309 (GRCm39) |
Q7928K |
unknown |
Het |
Tuft1 |
G |
A |
3: 94,539,909 (GRCm39) |
P159S |
probably benign |
Het |
Vmn2r108 |
T |
C |
17: 20,691,890 (GRCm39) |
H211R |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,399,105 (GRCm39) |
I58T |
probably benign |
Het |
Zfp78 |
C |
T |
7: 6,381,589 (GRCm39) |
T213I |
possibly damaging |
Het |
Zmat4 |
T |
A |
8: 24,238,436 (GRCm39) |
I6N |
possibly damaging |
Het |
Zp3r |
G |
T |
1: 130,524,560 (GRCm39) |
P226Q |
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 |
|
R7767:Dlgap4
|
UTSW |
2 |
156,587,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R7853:Dlgap4
|
UTSW |
2 |
156,547,802 (GRCm39) |
missense |
probably benign |
|
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'- GGTTTCTGGCCCTCTTAGTGAC -3'
(R):5'- ACCCACCTTCTTCAGAGAGG -3'
Sequencing Primer
(F):5'- AGAAGCAGTGCCCCCTCTC -3'
(R):5'- ACCTTCTTCAGAGAGGTTGTTC -3'
|
Posted On |
2020-09-15 |