Incidental Mutation 'IGL03122:Dlgap3'
| ID |
410022 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL03122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
127062997-127130815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127089018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 205
(S205P)
|
| 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: S205P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: S205P
| 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: S205P
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: S205P
| 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: S205P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: S205P
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
G |
A |
16: 56,590,725 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,866,902 (GRCm39) |
D719G |
probably benign |
Het |
| Amph |
C |
T |
13: 19,287,113 (GRCm39) |
T274M |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,414 (GRCm39) |
D396E |
possibly damaging |
Het |
| Atpaf1 |
T |
C |
4: 115,648,475 (GRCm39) |
I164T |
probably damaging |
Het |
| Avpr1b |
C |
A |
1: 131,528,257 (GRCm39) |
P260Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,189,305 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,741,963 (GRCm39) |
I449V |
probably damaging |
Het |
| Ccdc24 |
A |
G |
4: 117,728,942 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,798,243 (GRCm39) |
Q84R |
possibly damaging |
Het |
| Cenpk |
C |
A |
13: 104,378,885 (GRCm39) |
Q134K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,438,007 (GRCm39) |
N373D |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,751 (GRCm39) |
S1042T |
unknown |
Het |
| Cry2 |
G |
A |
2: 92,243,640 (GRCm39) |
R439C |
probably damaging |
Het |
| Dip2a |
G |
T |
10: 76,110,880 (GRCm39) |
D1138E |
probably benign |
Het |
| Echdc2 |
T |
A |
4: 108,022,777 (GRCm39) |
S18T |
probably benign |
Het |
| Efcab2 |
T |
A |
1: 178,265,042 (GRCm39) |
V36E |
probably damaging |
Het |
| Galk1 |
A |
T |
11: 115,901,065 (GRCm39) |
|
probably null |
Het |
| Hoxc11 |
A |
T |
15: 102,863,390 (GRCm39) |
N144Y |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,305,884 (GRCm39) |
C824S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,663 (GRCm39) |
S401G |
probably benign |
Het |
| Kcnn1 |
T |
G |
8: 71,307,724 (GRCm39) |
D106A |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,943,959 (GRCm39) |
N754S |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,478,439 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,659 (GRCm39) |
C395G |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,192 (GRCm39) |
V48A |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,461 (GRCm39) |
M71K |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,801 (GRCm39) |
M211V |
probably benign |
Het |
| Or9q1 |
A |
G |
19: 13,805,014 (GRCm39) |
S249P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,836,842 (GRCm39) |
R477G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,732,894 (GRCm39) |
S984P |
probably damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,782,040 (GRCm38) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,872 (GRCm39) |
S65P |
probably damaging |
Het |
| Tnip2 |
T |
C |
5: 34,661,095 (GRCm39) |
E119G |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,381,782 (GRCm39) |
L310M |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation