Incidental Mutation 'R3738:Dlgap3'
| ID |
270222 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R3738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
127062997-127130815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127089399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 332
(T332A)
|
| 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: T332A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039724
Gene: ENSMUSG00000042388
AA Change: T332A
| 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: T332A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101698
Gene: ENSMUSG00000042388
AA Change: T332A
| 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: T332A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101700
Gene: ENSMUSG00000042388
AA Change: T332A
| 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 |
|
| Meta Mutation Damage Score |
0.0948 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
| Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,623,454 (GRCm39) |
|
probably benign |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,666,800 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,565,488 (GRCm39) |
D136G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,315,768 (GRCm39) |
D227N |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
| Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,517,981 (GRCm39) |
Y335F |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
| Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
| Insig1 |
T |
A |
5: 28,276,701 (GRCm39) |
I89N |
probably damaging |
Het |
| Itpkc |
T |
A |
7: 26,927,029 (GRCm39) |
D295V |
possibly damaging |
Het |
| Jak1 |
T |
C |
4: 101,048,665 (GRCm39) |
|
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,971,737 (GRCm39) |
D157N |
possibly damaging |
Het |
| Kmt2c |
A |
C |
5: 25,610,381 (GRCm39) |
F242V |
probably benign |
Het |
| Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
| Lin54 |
T |
C |
5: 100,607,665 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
| Nr1d2 |
T |
A |
14: 18,211,804 (GRCm38) |
N433I |
possibly damaging |
Het |
| Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
| Or4c112 |
T |
C |
2: 88,853,954 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4l15 |
T |
C |
14: 50,198,013 (GRCm39) |
N172S |
possibly damaging |
Het |
| Pld4 |
T |
C |
12: 112,734,469 (GRCm39) |
I410T |
probably benign |
Het |
| Pnma8b |
C |
T |
7: 16,680,521 (GRCm39) |
H502Y |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,143,212 (GRCm39) |
|
probably benign |
Het |
| Rbbp8nl |
G |
T |
2: 179,923,041 (GRCm39) |
T184K |
probably benign |
Het |
| Saa4 |
T |
A |
7: 46,379,053 (GRCm39) |
N96Y |
possibly damaging |
Het |
| Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,049,053 (GRCm39) |
M306K |
probably benign |
Het |
| Slfn4 |
T |
C |
11: 83,076,137 (GRCm39) |
M1T |
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,139,659 (GRCm39) |
I1168V |
probably benign |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
| Trim9 |
T |
C |
12: 70,297,969 (GRCm39) |
T579A |
probably damaging |
Het |
| Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
| Ube2j1 |
A |
T |
4: 33,036,723 (GRCm39) |
M16L |
probably benign |
Het |
| Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
| Vmn2r62 |
G |
A |
7: 42,437,311 (GRCm39) |
P391L |
probably benign |
Het |
| Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably 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 |
|
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 |
|
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'- CAGTGACAGTGGCTTTCTGG -3'
(R):5'- AAGTATCACAAGGCAGCGC -3'
Sequencing Primer
(F):5'- GCTTTCTGGGTGGGAGAC -3'
(R):5'- AGCGCCTCCTTCCTCCAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation