Incidental Mutation 'R3881:Dlgap1'
| ID |
308795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlgap1
|
| Ensembl Gene |
ENSMUSG00000003279 |
| Gene Name |
DLG associated protein 1 |
| Synonyms |
GKAP/SAPAP, 4933422O14Rik, SAPAP1, Gkap, Sapap1, D17Bwg0511e, DAP-1 beta |
| MMRRC Submission |
040795-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3881 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
69969073-70821413 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70786815 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 710
(S710R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000097288]
[ENSMUST00000133717]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000140728]
[ENSMUST00000146730]
[ENSMUST00000148486]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060072
AA Change: S700R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: S700R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097288
AA Change: S402R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
AA Change: S402R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
345 |
625 |
9.4e-106 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126801
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133717
AA Change: S384R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279
AA Change: S384R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
327 |
666 |
1.3e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133983
AA Change: S700R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: S700R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135938
AA Change: S682R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: S682R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
624 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
625 |
964 |
9.3e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140728
AA Change: S410R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
AA Change: S410R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
352 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
353 |
692 |
1.4e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146730
AA Change: S710R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: S710R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
653 |
933 |
9.5e-106 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148486
AA Change: S400R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
AA Change: S400R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
215 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
342 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
343 |
682 |
1.3e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155016
AA Change: S710R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: S710R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
660 |
992 |
2e-153 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010003K11Rik |
T |
G |
19: 4,498,389 (GRCm38) |
K44T |
possibly damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 131,139,094 (GRCm38) |
E131G |
probably benign |
Het |
| Angptl4 |
G |
A |
17: 33,777,034 (GRCm38) |
P323S |
possibly damaging |
Het |
| Cep41 |
A |
G |
6: 30,658,398 (GRCm38) |
S201P |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,806,292 (GRCm38) |
I257V |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,957,318 (GRCm38) |
N590S |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,208,335 (GRCm38) |
L716P |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,618,617 (GRCm38) |
Q136L |
probably benign |
Het |
| Def6 |
T |
C |
17: 28,220,215 (GRCm38) |
C267R |
probably damaging |
Het |
| Dgat2 |
G |
A |
7: 99,169,743 (GRCm38) |
Q69* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,773,031 (GRCm38) |
I1539T |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,451,347 (GRCm38) |
I2932F |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,919,692 (GRCm38) |
S76P |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,167,620 (GRCm38) |
D19G |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,462,059 (GRCm38) |
|
probably null |
Het |
| Fbxw14 |
A |
T |
9: 109,271,194 (GRCm38) |
V464D |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 28,140,038 (GRCm38) |
C425* |
probably null |
Het |
| Gm21961 |
A |
G |
15: 65,014,867 (GRCm38) |
|
probably null |
Het |
| Gpd2 |
C |
T |
2: 57,338,975 (GRCm38) |
R264* |
probably null |
Het |
| Hps5 |
A |
G |
7: 46,771,996 (GRCm38) |
V648A |
possibly damaging |
Het |
| Ints4 |
A |
G |
7: 97,516,257 (GRCm38) |
T517A |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,113,840 (GRCm38) |
N1860S |
probably benign |
Het |
| Itsn2 |
G |
A |
12: 4,634,546 (GRCm38) |
|
probably benign |
Het |
| Jup |
A |
G |
11: 100,378,381 (GRCm38) |
V402A |
probably benign |
Het |
| Letm2 |
C |
A |
8: 25,593,868 (GRCm38) |
E116* |
probably null |
Het |
| Ly6c1 |
T |
C |
15: 75,045,587 (GRCm38) |
T71A |
probably benign |
Het |
| Mcm3ap |
G |
A |
10: 76,506,446 (GRCm38) |
S1591N |
probably benign |
Het |
| Mier2 |
C |
T |
10: 79,548,750 (GRCm38) |
|
probably null |
Het |
| Mocs2 |
T |
A |
13: 114,819,346 (GRCm38) |
L10* |
probably null |
Het |
| Myo6 |
A |
G |
9: 80,264,256 (GRCm38) |
D513G |
probably damaging |
Het |
| Myoz2 |
T |
C |
3: 123,013,720 (GRCm38) |
Y147C |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,042,541 (GRCm38) |
V1367M |
probably benign |
Het |
| Nr2f6 |
C |
T |
8: 71,376,031 (GRCm38) |
A200T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,056,949 (GRCm38) |
C4418Y |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,869,353 (GRCm38) |
M191V |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,768,780 (GRCm38) |
V146A |
probably benign |
Het |
| Or5g26 |
T |
A |
2: 85,664,425 (GRCm38) |
H3L |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,748,839 (GRCm38) |
R953Q |
probably damaging |
Het |
| Pcdha1 |
A |
T |
18: 36,931,401 (GRCm38) |
I373F |
possibly damaging |
Het |
| Pcdha7 |
G |
A |
18: 36,975,379 (GRCm38) |
E486K |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,893,954 (GRCm38) |
P849L |
probably benign |
Het |
| Recql5 |
G |
T |
11: 115,893,955 (GRCm38) |
P849T |
probably benign |
Het |
| Rnf180 |
A |
T |
13: 105,250,407 (GRCm38) |
M131K |
possibly damaging |
Het |
| Rplp1 |
A |
G |
9: 61,914,422 (GRCm38) |
S3P |
probably benign |
Het |
| Rpp38 |
T |
A |
2: 3,329,246 (GRCm38) |
R206S |
probably benign |
Het |
| Sdha |
G |
T |
13: 74,339,192 (GRCm38) |
P159Q |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 144,405,384 (GRCm38) |
V199A |
probably benign |
Het |
| Tex11 |
C |
A |
X: 100,933,415 (GRCm38) |
A487S |
possibly damaging |
Het |
| Timm50 |
C |
A |
7: 28,311,007 (GRCm38) |
A41S |
probably benign |
Het |
| Tmbim1 |
A |
G |
1: 74,289,998 (GRCm38) |
|
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,445,805 (GRCm38) |
V29M |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,183,240 (GRCm38) |
H411L |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,365,404 (GRCm38) |
|
probably null |
Het |
| Zdhhc22 |
T |
A |
12: 86,983,626 (GRCm38) |
M183L |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,532,149 (GRCm38) |
S830P |
probably benign |
Het |
|
| Other mutations in Dlgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Dlgap1
|
APN |
17 |
70,516,085 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01413:Dlgap1
|
APN |
17 |
70,516,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01531:Dlgap1
|
APN |
17 |
70,516,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02226:Dlgap1
|
APN |
17 |
70,516,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB009:Dlgap1
|
UTSW |
17 |
70,516,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB019:Dlgap1
|
UTSW |
17 |
70,516,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0453:Dlgap1
|
UTSW |
17 |
70,761,346 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0482:Dlgap1
|
UTSW |
17 |
70,516,190 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0520:Dlgap1
|
UTSW |
17 |
70,516,994 (GRCm38) |
nonsense |
probably null |
|
|
R1951:Dlgap1
|
UTSW |
17 |
70,761,311 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2072:Dlgap1
|
UTSW |
17 |
70,662,770 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2076:Dlgap1
|
UTSW |
17 |
70,786,831 (GRCm38) |
nonsense |
probably null |
|
|
R3438:Dlgap1
|
UTSW |
17 |
70,516,361 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3743:Dlgap1
|
UTSW |
17 |
70,718,226 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3981:Dlgap1
|
UTSW |
17 |
70,516,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4043:Dlgap1
|
UTSW |
17 |
70,761,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4272:Dlgap1
|
UTSW |
17 |
70,766,043 (GRCm38) |
missense |
probably benign |
|
|
R4273:Dlgap1
|
UTSW |
17 |
70,766,043 (GRCm38) |
missense |
probably benign |
|
|
R4557:Dlgap1
|
UTSW |
17 |
70,516,689 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4652:Dlgap1
|
UTSW |
17 |
70,761,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4771:Dlgap1
|
UTSW |
17 |
70,593,380 (GRCm38) |
nonsense |
probably null |
|
|
R5000:Dlgap1
|
UTSW |
17 |
70,766,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5004:Dlgap1
|
UTSW |
17 |
70,718,227 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5291:Dlgap1
|
UTSW |
17 |
70,718,210 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5304:Dlgap1
|
UTSW |
17 |
70,815,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5473:Dlgap1
|
UTSW |
17 |
70,517,030 (GRCm38) |
intron |
probably benign |
|
|
R5522:Dlgap1
|
UTSW |
17 |
70,516,998 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5586:Dlgap1
|
UTSW |
17 |
70,818,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5742:Dlgap1
|
UTSW |
17 |
70,718,199 (GRCm38) |
missense |
probably benign |
|
|
R5802:Dlgap1
|
UTSW |
17 |
70,766,091 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5850:Dlgap1
|
UTSW |
17 |
70,787,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5857:Dlgap1
|
UTSW |
17 |
70,815,393 (GRCm38) |
intron |
probably benign |
|
|
R5883:Dlgap1
|
UTSW |
17 |
70,517,013 (GRCm38) |
intron |
probably benign |
|
|
R6045:Dlgap1
|
UTSW |
17 |
70,818,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6336:Dlgap1
|
UTSW |
17 |
70,815,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6448:Dlgap1
|
UTSW |
17 |
70,593,330 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6682:Dlgap1
|
UTSW |
17 |
70,787,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6795:Dlgap1
|
UTSW |
17 |
70,818,074 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7147:Dlgap1
|
UTSW |
17 |
70,662,758 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7187:Dlgap1
|
UTSW |
17 |
70,516,098 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7382:Dlgap1
|
UTSW |
17 |
70,787,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7859:Dlgap1
|
UTSW |
17 |
70,516,688 (GRCm38) |
missense |
probably benign |
|
|
R7932:Dlgap1
|
UTSW |
17 |
70,516,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8477:Dlgap1
|
UTSW |
17 |
70,516,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8673:Dlgap1
|
UTSW |
17 |
70,815,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8866:Dlgap1
|
UTSW |
17 |
70,516,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8910:Dlgap1
|
UTSW |
17 |
70,786,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8997:Dlgap1
|
UTSW |
17 |
70,516,533 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R9012:Dlgap1
|
UTSW |
17 |
70,516,187 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9035:Dlgap1
|
UTSW |
17 |
70,516,860 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9067:Dlgap1
|
UTSW |
17 |
70,809,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9361:Dlgap1
|
UTSW |
17 |
70,761,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9464:Dlgap1
|
UTSW |
17 |
70,516,969 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9550:Dlgap1
|
UTSW |
17 |
70,786,907 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9564:Dlgap1
|
UTSW |
17 |
70,657,463 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9565:Dlgap1
|
UTSW |
17 |
70,657,463 (GRCm38) |
missense |
probably benign |
0.02 |
|
T0975:Dlgap1
|
UTSW |
17 |
70,516,955 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
Z1176:Dlgap1
|
UTSW |
17 |
70,815,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Dlgap1
|
UTSW |
17 |
70,662,743 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGTGAACAGCATATTCAATTC -3'
(R):5'- GGGTCAAAATCCGTGTCAAAG -3'
Sequencing Primer
(F):5'- TTCAAAGATCACCCCAACTGTTTC -3'
(R):5'- GGTCAAAATCCGTGTCAAAGTCGTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation