Incidental Mutation 'R1636:Dlgap4'
| ID |
173144 |
| 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 |
039672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R1636 (G1)
|
| Quality Score |
174 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 156587997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 631
(E631*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000094]
[ENSMUST00000070782]
[ENSMUST00000099145]
[ENSMUST00000109566]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000169464]
[ENSMUST00000177013]
[ENSMUST00000146412]
[ENSMUST00000131157]
[ENSMUST00000171030]
[ENSMUST00000137356]
|
| 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 null
Transcript: ENSMUST00000070782
AA Change: E631*
|
| SMART Domains |
Protein: ENSMUSP00000068745
Gene: ENSMUSG00000061689
AA Change: E631*
| 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
AA Change: E92*
|
| SMART Domains |
Protein: ENSMUSP00000096749
Gene: ENSMUSG00000061689
AA Change: E92*
| 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 null
Transcript: ENSMUST00000109567
AA Change: E631*
|
| SMART Domains |
Protein: ENSMUSP00000105195
Gene: ENSMUSG00000061689
AA Change: E631*
| 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
AA Change: E614*
|
| SMART Domains |
Protein: ENSMUSP00000105196
Gene: ENSMUSG00000061689
AA Change: E614*
| 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 |
noncoding transcript
Transcript: ENSMUST00000127944
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169464
AA Change: E631*
|
| SMART Domains |
Protein: ENSMUSP00000126980
Gene: ENSMUSG00000061689
AA Change: E631*
| 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: ENSMUST00000177013
|
| SMART Domains |
Protein: ENSMUSP00000135409
Gene: ENSMUSG00000061689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
| 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 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: 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: ENSMUST00000137356
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
96% (85/89) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Abca7 |
A |
G |
10: 79,844,832 (GRCm39) |
H1518R |
probably benign |
Het |
| Adam4 |
A |
G |
12: 81,466,464 (GRCm39) |
L719S |
probably damaging |
Het |
| Adprm |
T |
C |
11: 66,932,549 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,472,923 (GRCm39) |
Y78F |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,995,761 (GRCm39) |
P665L |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,788,987 (GRCm39) |
K637R |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,966,898 (GRCm39) |
L502M |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,860,841 (GRCm39) |
L315P |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,760,110 (GRCm39) |
Y613N |
probably damaging |
Het |
| Cdca7l |
G |
A |
12: 117,840,663 (GRCm39) |
R395H |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,226,156 (GRCm39) |
I368K |
probably damaging |
Het |
| D6Wsu163e |
T |
C |
6: 126,923,564 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ddx52 |
A |
G |
11: 83,846,169 (GRCm39) |
T470A |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,442,892 (GRCm39) |
E316G |
possibly damaging |
Het |
| Dip2a |
A |
T |
10: 76,157,412 (GRCm39) |
N64K |
probably benign |
Het |
| Dner |
T |
C |
1: 84,563,051 (GRCm39) |
K190E |
possibly damaging |
Het |
| Eif2b4 |
T |
A |
5: 31,349,610 (GRCm39) |
|
probably null |
Het |
| Eif3a |
A |
T |
19: 60,770,343 (GRCm39) |
D119E |
possibly damaging |
Het |
| Ercc2 |
C |
T |
7: 19,121,049 (GRCm39) |
T276M |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,715,965 (GRCm39) |
K830R |
probably benign |
Het |
| F2r |
G |
T |
13: 95,740,400 (GRCm39) |
Y378* |
probably null |
Het |
| Fam186a |
G |
A |
15: 99,839,539 (GRCm39) |
T2235I |
unknown |
Het |
| Fmo3 |
T |
G |
1: 162,781,994 (GRCm39) |
K453T |
probably benign |
Het |
| Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
| Galns |
A |
G |
8: 123,330,955 (GRCm39) |
|
probably benign |
Het |
| Gm1818 |
T |
C |
12: 48,602,550 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9955 |
C |
A |
18: 24,842,287 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
C |
12: 41,750,470 (GRCm39) |
V113A |
probably damaging |
Het |
| Iyd |
T |
A |
10: 3,495,588 (GRCm39) |
M82K |
possibly damaging |
Het |
| Kif21a |
A |
T |
15: 90,869,008 (GRCm39) |
|
probably benign |
Het |
| Lipf |
A |
G |
19: 33,953,935 (GRCm39) |
D342G |
probably damaging |
Het |
| Lmbrd1 |
C |
A |
1: 24,786,011 (GRCm39) |
Y435* |
probably null |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Mtrf1l |
A |
G |
10: 5,763,265 (GRCm39) |
S355P |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,820,560 (GRCm39) |
S788G |
probably damaging |
Het |
| Nfx1 |
T |
G |
4: 41,016,072 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,069,737 (GRCm39) |
V546A |
possibly damaging |
Het |
| Nwd2 |
G |
A |
5: 63,964,900 (GRCm39) |
V1495M |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,150,621 (GRCm39) |
I84F |
probably benign |
Het |
| Obscn |
A |
G |
11: 59,013,463 (GRCm39) |
F1153S |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,333,904 (GRCm39) |
C396S |
possibly damaging |
Het |
| Omg |
A |
G |
11: 79,393,166 (GRCm39) |
S231P |
probably benign |
Het |
| Or51a7 |
T |
G |
7: 102,614,898 (GRCm39) |
I197S |
possibly damaging |
Het |
| Or8g35 |
T |
C |
9: 39,381,215 (GRCm39) |
D269G |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,016 (GRCm39) |
T53A |
possibly damaging |
Het |
| Pik3r2 |
A |
T |
8: 71,224,542 (GRCm39) |
H244Q |
probably benign |
Het |
| Pinx1 |
A |
T |
14: 64,103,586 (GRCm39) |
H55L |
probably damaging |
Het |
| Pwwp2b |
T |
A |
7: 138,834,758 (GRCm39) |
H66Q |
probably benign |
Het |
| Rell2 |
A |
G |
18: 38,091,132 (GRCm39) |
D99G |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,203,681 (GRCm39) |
A1191V |
probably damaging |
Het |
| Rprm |
T |
C |
2: 53,975,316 (GRCm39) |
M1V |
probably null |
Het |
| Sav1 |
A |
C |
12: 70,031,269 (GRCm39) |
H84Q |
probably benign |
Het |
| Scamp5 |
T |
C |
9: 57,358,692 (GRCm39) |
D28G |
possibly damaging |
Het |
| Selenbp2 |
G |
A |
3: 94,604,122 (GRCm39) |
G9D |
probably damaging |
Het |
| Sh3tc2 |
T |
C |
18: 62,122,792 (GRCm39) |
W518R |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,777,012 (GRCm39) |
N29K |
probably benign |
Het |
| Spindoc |
C |
A |
19: 7,351,922 (GRCm39) |
D142Y |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,795 (GRCm39) |
D60E |
probably benign |
Het |
| Sugt1 |
A |
G |
14: 79,825,422 (GRCm39) |
I23V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,051,506 (GRCm39) |
C4079R |
probably benign |
Het |
| Tex15 |
T |
G |
8: 34,066,415 (GRCm39) |
Y1948* |
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,668,616 (GRCm39) |
M1046K |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,213,814 (GRCm39) |
E321G |
probably damaging |
Het |
| Tmem198b |
A |
G |
10: 128,638,065 (GRCm39) |
L166P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,730,566 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
G |
A |
8: 72,106,034 (GRCm39) |
T690I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,198,373 (GRCm39) |
I1479T |
possibly damaging |
Het |
| Vcan |
G |
A |
13: 89,851,786 (GRCm39) |
T1058I |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,096,522 (GRCm39) |
Q45R |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,380 (GRCm39) |
N209D |
probably damaging |
Het |
| Wbp1l |
A |
G |
19: 46,632,883 (GRCm39) |
Y40C |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,086,907 (GRCm39) |
H625L |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,892,623 (GRCm39) |
Y195C |
probably damaging |
Het |
| Zkscan6 |
C |
T |
11: 65,705,256 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
C |
A |
4: 127,017,560 (GRCm39) |
H1022N |
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 |
|
|
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 |
|
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'- TTCATCTCAGTCACCGTCCAGAGC -3'
(R):5'- TTTAGCCACTTGGGGCAGATGCAC -3'
Sequencing Primer
(F):5'- GGCTTGAGCAACTCATCAGA -3'
(R):5'- AGTGGGCCTCCACTAGATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation