Incidental Mutation 'R3076:Dlgap3'
| ID |
265203 |
| 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 |
040566-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R3076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
127062997-127130815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127089499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 365
(Y365C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046659]
[ENSMUST00000106092]
[ENSMUST00000106094]
|
| AlphaFold |
Q6PFD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046659
AA Change: Y365C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: Y365C
| 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 damaging
Transcript: ENSMUST00000106092
AA Change: Y365C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: Y365C
| 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 |
probably damaging
Transcript: ENSMUST00000106094
AA Change: Y365C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: Y365C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Amigo2 |
C |
T |
15: 97,143,315 (GRCm39) |
R369Q |
probably damaging |
Het |
| Aopep |
A |
C |
13: 63,387,929 (GRCm39) |
D3A |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,622,446 (GRCm39) |
L504Q |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,679,498 (GRCm39) |
V932A |
possibly damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,924,762 (GRCm39) |
K9R |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,818,725 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
A |
T |
2: 28,725,165 (GRCm39) |
V189E |
possibly damaging |
Het |
| Khdc3 |
C |
A |
9: 73,010,212 (GRCm39) |
F89L |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,734,668 (GRCm39) |
Q393R |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
| Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
C |
T |
7: 143,335,033 (GRCm39) |
A157T |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,498,879 (GRCm39) |
V76I |
possibly damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,768 (GRCm39) |
W1702R |
probably damaging |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,542 (GRCm39) |
T129A |
probably benign |
Het |
| Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,686 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,375 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,179,931 (GRCm39) |
S1450P |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,759,477 (GRCm39) |
I296T |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 58,983,518 (GRCm39) |
E471G |
probably damaging |
Het |
| St7 |
T |
G |
6: 17,846,237 (GRCm39) |
Y163* |
probably null |
Het |
| Svil |
T |
C |
18: 5,116,055 (GRCm39) |
S1623P |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,335 (GRCm39) |
A310T |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
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 |
|
R3738:Dlgap3
|
UTSW |
4 |
127,089,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4344:Dlgap3
|
UTSW |
4 |
127,108,141 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- TCCTACAGGGACTTGAGCTTC -3'
(R):5'- GATCCCTTCATTGTACAAATGGGG -3'
Sequencing Primer
(F):5'- AGCTTCAAGGGGCGTTC -3'
(R):5'- CCCTTCATTGTACAAATGGGGAAAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation