Incidental Mutation 'R4344:Dlgap3'
| ID |
324256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlgap3
|
| Ensembl Gene |
ENSMUSG00000042388 |
| Gene Name |
DLG associated protein 3 |
| Synonyms |
Prpl8, SAP90/PSD 95 associated protein 3, DAP3, Sapap3, PSD-95/SAP90-binding protein 3 |
| MMRRC Submission |
041101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
127062997-127130815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127108141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 475
(S475P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046659]
[ENSMUST00000106092]
[ENSMUST00000106094]
|
| AlphaFold |
Q6PFD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046659
AA Change: S475P
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: S475P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
354 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
387 |
411 |
6.49e-5 |
PROSPERO |
|
low complexity region
|
419 |
429 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
493 |
517 |
6.49e-5 |
PROSPERO |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
615 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
619 |
977 |
1.3e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106092
AA Change: S475P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: S475P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
354 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
387 |
411 |
5.59e-5 |
PROSPERO |
|
low complexity region
|
419 |
429 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
493 |
517 |
5.59e-5 |
PROSPERO |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
615 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
619 |
966 |
1.8e-127 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106094
AA Change: S475P
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: S475P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
354 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
387 |
411 |
6.49e-5 |
PROSPERO |
|
low complexity region
|
419 |
429 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
493 |
517 |
6.49e-5 |
PROSPERO |
|
low complexity region
|
539 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
615 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
626 |
977 |
1.3e-149 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137062
|
| Meta Mutation Damage Score |
0.0818 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit skin lesions associated with excessive grooming, increased anxiety-related behaviors, altered synaptic transmission and abnormal sleep patterns. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,865,829 (GRCm39) |
R5S |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,100,151 (GRCm39) |
L316F |
possibly damaging |
Het |
| Ccdc187 |
T |
A |
2: 26,170,681 (GRCm39) |
K599I |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
| Ces2a |
T |
G |
8: 105,463,766 (GRCm39) |
D159E |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,507,561 (GRCm39) |
A917V |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,072,866 (GRCm39) |
A196V |
probably benign |
Het |
| Doc2a |
C |
T |
7: 126,450,321 (GRCm39) |
P156S |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,445,722 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Klk1b8 |
C |
A |
7: 43,595,186 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,264,968 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,873,051 (GRCm39) |
I2750K |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,666 (GRCm39) |
N2958S |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,591,106 (GRCm39) |
V163I |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,585,886 (GRCm39) |
W2475R |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 115,954,551 (GRCm39) |
C684Y |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,663,326 (GRCm39) |
H167L |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,886 (GRCm39) |
F165L |
possibly damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,865,749 (GRCm39) |
I482T |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,861,667 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,614,756 (GRCm39) |
G278D |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,063,073 (GRCm39) |
A215T |
probably benign |
Het |
| Zmynd15 |
C |
T |
11: 70,351,894 (GRCm39) |
R38* |
probably null |
Het |
|
| Other mutations in Dlgap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01667:Dlgap3
|
APN |
4 |
127,127,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03122:Dlgap3
|
APN |
4 |
127,089,018 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03259:Dlgap3
|
APN |
4 |
127,094,077 (GRCm39) |
missense |
probably benign |
0.05 |
|
Compulsive
|
UTSW |
4 |
127,089,502 (GRCm39) |
nonsense |
probably null |
|
|
R0363:Dlgap3
|
UTSW |
4 |
127,129,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Dlgap3
|
UTSW |
4 |
127,088,406 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R1386:Dlgap3
|
UTSW |
4 |
127,088,719 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1603:Dlgap3
|
UTSW |
4 |
127,089,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Dlgap3
|
UTSW |
4 |
127,089,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2119:Dlgap3
|
UTSW |
4 |
127,129,982 (GRCm39) |
missense |
probably benign |
|
|
R2696:Dlgap3
|
UTSW |
4 |
127,088,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Dlgap3
|
UTSW |
4 |
127,089,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Dlgap3
|
UTSW |
4 |
127,089,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4676:Dlgap3
|
UTSW |
4 |
127,127,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4720:Dlgap3
|
UTSW |
4 |
127,089,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4893:Dlgap3
|
UTSW |
4 |
127,088,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Dlgap3
|
UTSW |
4 |
127,130,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Dlgap3
|
UTSW |
4 |
127,089,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Dlgap3
|
UTSW |
4 |
127,089,502 (GRCm39) |
nonsense |
probably null |
|
|
R6379:Dlgap3
|
UTSW |
4 |
127,128,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Dlgap3
|
UTSW |
4 |
127,089,310 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7454:Dlgap3
|
UTSW |
4 |
127,128,852 (GRCm39) |
missense |
probably null |
0.01 |
|
R7479:Dlgap3
|
UTSW |
4 |
127,088,418 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8104:Dlgap3
|
UTSW |
4 |
127,129,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8853:Dlgap3
|
UTSW |
4 |
127,088,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8921:Dlgap3
|
UTSW |
4 |
127,127,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9483:Dlgap3
|
UTSW |
4 |
127,127,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9717:Dlgap3
|
UTSW |
4 |
127,129,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Dlgap3
|
UTSW |
4 |
127,130,127 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0024:Dlgap3
|
UTSW |
4 |
127,129,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dlgap3
|
UTSW |
4 |
127,129,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dlgap3
|
UTSW |
4 |
127,088,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATGGCCCAGAGAAGCC -3'
(R):5'- CAGAGGACATACTCACAGGAGC -3'
Sequencing Primer
(F):5'- GAGAACCTCCTGTCTCCAAGTG -3'
(R):5'- ATACTCACAGGAGCCGGGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation