Incidental Mutation 'IGL01667:Dlgap3'
| ID |
103349 |
| 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: 0.085)
|
| Stock # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
127062997-127130815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 127127690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 786
(T786K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046659]
[ENSMUST00000106092]
[ENSMUST00000106094]
|
| AlphaFold |
Q6PFD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046659
AA Change: T786K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: T786K
| 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: T786K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: T786K
| 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 benign
Transcript: ENSMUST00000106094
AA Change: T786K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: T786K
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
Het |
|
| Other mutations in Dlgap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation