Incidental Mutation 'R8366:Dlgap4'
ID |
646163 |
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 |
067737-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R8366 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156455625-156606283 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 156542694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 32
(Y32*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070782]
[ENSMUST00000109567]
[ENSMUST00000109568]
[ENSMUST00000169464]
|
AlphaFold |
B1AZP2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000070782
AA Change: Y32*
|
SMART Domains |
Protein: ENSMUSP00000068745 Gene: ENSMUSG00000061689 AA Change: Y32*
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: ENSMUST00000109567
AA Change: Y32*
|
SMART Domains |
Protein: ENSMUSP00000105195 Gene: ENSMUSG00000061689 AA Change: Y32*
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: Y32*
|
SMART Domains |
Protein: ENSMUSP00000105196 Gene: ENSMUSG00000061689 AA Change: Y32*
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: ENSMUST00000169464
AA Change: Y32*
|
SMART Domains |
Protein: ENSMUSP00000126980 Gene: ENSMUSG00000061689 AA Change: Y32*
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
G |
A |
11: 72,067,521 (GRCm39) |
Q590* |
probably null |
Het |
Adnp2 |
T |
C |
18: 80,173,725 (GRCm39) |
D228G |
probably damaging |
Het |
Adrb2 |
T |
A |
18: 62,311,775 (GRCm39) |
Y350F |
probably benign |
Het |
Agbl4 |
T |
C |
4: 111,423,861 (GRCm39) |
S296P |
probably damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Ampd1 |
A |
T |
3: 102,995,810 (GRCm39) |
D240V |
probably damaging |
Het |
Armh3 |
T |
C |
19: 45,920,793 (GRCm39) |
Y468C |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,419,707 (GRCm39) |
S838G |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,160,799 (GRCm39) |
F2056L |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,970,063 (GRCm39) |
S381T |
probably benign |
Het |
Ddx20 |
A |
G |
3: 105,594,695 (GRCm39) |
S17P |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,668,330 (GRCm39) |
F529L |
unknown |
Het |
Ei24 |
A |
G |
9: 36,697,800 (GRCm39) |
S117P |
possibly damaging |
Het |
Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
Gcfc2 |
A |
G |
6: 81,900,782 (GRCm39) |
E32G |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,125,699 (GRCm39) |
I2952T |
|
Het |
Mkrn3 |
A |
T |
7: 62,069,543 (GRCm39) |
S83T |
probably benign |
Het |
Ncoa2 |
T |
A |
1: 13,250,830 (GRCm39) |
D284V |
probably damaging |
Het |
Or10w1 |
A |
G |
19: 13,631,903 (GRCm39) |
S37G |
probably damaging |
Het |
Osmr |
T |
A |
15: 6,850,435 (GRCm39) |
T724S |
possibly damaging |
Het |
Pex1 |
A |
G |
5: 3,676,007 (GRCm39) |
E825G |
probably benign |
Het |
Ranbp6 |
A |
G |
19: 29,789,299 (GRCm39) |
L351P |
probably damaging |
Het |
Rbm20 |
C |
T |
19: 53,838,612 (GRCm39) |
T863I |
possibly damaging |
Het |
Rcbtb2 |
T |
C |
14: 73,444,632 (GRCm39) |
S506P |
probably benign |
Het |
Rdh12 |
T |
A |
12: 79,258,288 (GRCm39) |
I105N |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,267,195 (GRCm39) |
I299V |
possibly damaging |
Het |
Rpap3 |
C |
T |
15: 97,579,548 (GRCm39) |
R488K |
probably benign |
Het |
Rps6kb1 |
A |
C |
11: 86,402,655 (GRCm39) |
V346G |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,377,816 (GRCm39) |
S544P |
probably damaging |
Het |
Sis |
A |
T |
3: 72,865,566 (GRCm39) |
V162E |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 39,952,867 (GRCm39) |
V209A |
probably benign |
Het |
Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
Teddm2 |
G |
T |
1: 153,726,575 (GRCm39) |
H47N |
probably damaging |
Het |
Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
Trmt10c |
C |
T |
16: 55,854,426 (GRCm39) |
R403Q |
probably benign |
Het |
Vps11 |
A |
T |
9: 44,267,052 (GRCm39) |
Y394* |
probably null |
Het |
Zscan10 |
G |
T |
17: 23,828,952 (GRCm39) |
R498L |
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 |
|
R7944:Dlgap4
|
UTSW |
2 |
156,591,054 (GRCm39) |
missense |
probably damaging |
0.96 |
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'- TAACCAGCTGACCACTCATTG -3'
(R):5'- GCAGCCGATTGATCTTAGTGG -3'
Sequencing Primer
(F):5'- GTCTTTTCTCCCTAGGACAGCTG -3'
(R):5'- CCGATTGATCTTAGTGGCTTGG -3'
|
Posted On |
2020-09-02 |