Incidental Mutation 'R3881:Dlgap1'
ID |
308795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dlgap1
|
Ensembl Gene |
ENSMUSG00000003279 |
Gene Name |
DLG associated protein 1 |
Synonyms |
Sapap1, Gkap, GKAP/SAPAP, SAPAP1, D17Bwg0511e, DAP-1 beta, 4933422O14Rik |
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 |
70276068-71128408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71093810 bp (GRCm39)
|
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]
[ENSMUST00000155016]
[ENSMUST00000146730]
[ENSMUST00000148486]
|
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: 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 |
|
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 |
|
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: 4,548,417 (GRCm39) |
K44T |
possibly damaging |
Het |
4933402N03Rik |
T |
C |
7: 130,740,823 (GRCm39) |
E131G |
probably benign |
Het |
Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
Cep41 |
A |
G |
6: 30,658,397 (GRCm39) |
S201P |
probably damaging |
Het |
Cep95 |
A |
G |
11: 106,697,118 (GRCm39) |
I257V |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cyfip2 |
A |
G |
11: 46,099,162 (GRCm39) |
L716P |
probably damaging |
Het |
Cyp2d34 |
T |
A |
15: 82,502,818 (GRCm39) |
Q136L |
probably benign |
Het |
Def6 |
T |
C |
17: 28,439,189 (GRCm39) |
C267R |
probably damaging |
Het |
Dgat2 |
G |
A |
7: 98,818,950 (GRCm39) |
Q69* |
probably null |
Het |
Dnah10 |
T |
C |
5: 124,850,095 (GRCm39) |
I1539T |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,342,173 (GRCm39) |
I2932F |
possibly damaging |
Het |
Enpp2 |
A |
G |
15: 54,783,088 (GRCm39) |
S76P |
probably damaging |
Het |
Esr2 |
T |
C |
12: 76,214,394 (GRCm39) |
D19G |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,595,112 (GRCm39) |
|
probably null |
Het |
Fbxw14 |
A |
T |
9: 109,100,262 (GRCm39) |
V464D |
possibly damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,463 (GRCm39) |
C425* |
probably null |
Het |
Gm21961 |
A |
G |
15: 64,886,716 (GRCm39) |
|
probably null |
Het |
Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
Ints4 |
A |
G |
7: 97,165,464 (GRCm39) |
T517A |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,332,814 (GRCm39) |
N1860S |
probably benign |
Het |
Itsn2 |
G |
A |
12: 4,684,546 (GRCm39) |
|
probably benign |
Het |
Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
Letm2 |
C |
A |
8: 26,083,884 (GRCm39) |
E116* |
probably null |
Het |
Ly6c1 |
T |
C |
15: 74,917,436 (GRCm39) |
T71A |
probably benign |
Het |
Mcm3ap |
G |
A |
10: 76,342,280 (GRCm39) |
S1591N |
probably benign |
Het |
Mier2 |
C |
T |
10: 79,384,584 (GRCm39) |
|
probably null |
Het |
Mocs2 |
T |
A |
13: 114,955,882 (GRCm39) |
L10* |
probably null |
Het |
Myo6 |
A |
G |
9: 80,171,538 (GRCm39) |
D513G |
probably damaging |
Het |
Myoz2 |
T |
C |
3: 122,807,369 (GRCm39) |
Y147C |
probably damaging |
Het |
Nin |
C |
T |
12: 70,089,315 (GRCm39) |
V1367M |
probably benign |
Het |
Nr2f6 |
C |
T |
8: 71,828,675 (GRCm39) |
A200T |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,947,775 (GRCm39) |
C4418Y |
probably damaging |
Het |
Or10ak9 |
A |
G |
4: 118,726,550 (GRCm39) |
M191V |
probably benign |
Het |
Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
Or5g26 |
T |
A |
2: 85,494,769 (GRCm39) |
H3L |
probably benign |
Het |
Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
Pcdha1 |
A |
T |
18: 37,064,454 (GRCm39) |
I373F |
possibly damaging |
Het |
Pcdha7 |
G |
A |
18: 37,108,432 (GRCm39) |
E486K |
probably benign |
Het |
Recql5 |
G |
A |
11: 115,784,780 (GRCm39) |
P849L |
probably benign |
Het |
Recql5 |
G |
T |
11: 115,784,781 (GRCm39) |
P849T |
probably benign |
Het |
Rnf180 |
A |
T |
13: 105,386,915 (GRCm39) |
M131K |
possibly damaging |
Het |
Rplp1 |
A |
G |
9: 61,821,704 (GRCm39) |
S3P |
probably benign |
Het |
Rpp38 |
T |
A |
2: 3,330,283 (GRCm39) |
R206S |
probably benign |
Het |
Sdha |
G |
T |
13: 74,487,311 (GRCm39) |
P159Q |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,959,121 (GRCm39) |
V199A |
probably benign |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Timm50 |
C |
A |
7: 28,010,432 (GRCm39) |
A41S |
probably benign |
Het |
Tmbim1 |
A |
G |
1: 74,329,157 (GRCm39) |
|
probably benign |
Het |
Tmprss11a |
C |
T |
5: 86,593,664 (GRCm39) |
V29M |
possibly damaging |
Het |
Ttc28 |
A |
T |
5: 111,331,106 (GRCm39) |
H411L |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,449,861 (GRCm39) |
|
probably null |
Het |
Zdhhc22 |
T |
A |
12: 87,030,400 (GRCm39) |
M183L |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,362,630 (GRCm39) |
S830P |
probably benign |
Het |
|
Other mutations in Dlgap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Dlgap1
|
APN |
17 |
70,823,080 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01413:Dlgap1
|
APN |
17 |
70,823,069 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01531:Dlgap1
|
APN |
17 |
70,823,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02226:Dlgap1
|
APN |
17 |
70,823,029 (GRCm39) |
missense |
probably damaging |
1.00 |
BB009:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R0453:Dlgap1
|
UTSW |
17 |
71,068,341 (GRCm39) |
missense |
probably benign |
0.03 |
R0482:Dlgap1
|
UTSW |
17 |
70,823,185 (GRCm39) |
missense |
probably benign |
0.11 |
R0520:Dlgap1
|
UTSW |
17 |
70,823,989 (GRCm39) |
nonsense |
probably null |
|
R1951:Dlgap1
|
UTSW |
17 |
71,068,306 (GRCm39) |
missense |
probably damaging |
0.96 |
R2072:Dlgap1
|
UTSW |
17 |
70,969,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R2076:Dlgap1
|
UTSW |
17 |
71,093,826 (GRCm39) |
nonsense |
probably null |
|
R3438:Dlgap1
|
UTSW |
17 |
70,823,356 (GRCm39) |
missense |
probably damaging |
0.97 |
R3743:Dlgap1
|
UTSW |
17 |
71,025,221 (GRCm39) |
critical splice donor site |
probably null |
|
R3981:Dlgap1
|
UTSW |
17 |
70,823,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R4043:Dlgap1
|
UTSW |
17 |
71,068,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
R4273:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
R4557:Dlgap1
|
UTSW |
17 |
70,823,684 (GRCm39) |
missense |
probably benign |
0.01 |
R4652:Dlgap1
|
UTSW |
17 |
71,068,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Dlgap1
|
UTSW |
17 |
70,900,375 (GRCm39) |
nonsense |
probably null |
|
R5000:Dlgap1
|
UTSW |
17 |
71,073,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Dlgap1
|
UTSW |
17 |
71,025,222 (GRCm39) |
critical splice donor site |
probably null |
|
R5291:Dlgap1
|
UTSW |
17 |
71,025,205 (GRCm39) |
missense |
probably benign |
0.03 |
R5304:Dlgap1
|
UTSW |
17 |
71,122,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5473:Dlgap1
|
UTSW |
17 |
70,824,025 (GRCm39) |
intron |
probably benign |
|
R5522:Dlgap1
|
UTSW |
17 |
70,823,993 (GRCm39) |
critical splice donor site |
probably null |
|
R5586:Dlgap1
|
UTSW |
17 |
71,125,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R5742:Dlgap1
|
UTSW |
17 |
71,025,194 (GRCm39) |
missense |
probably benign |
|
R5802:Dlgap1
|
UTSW |
17 |
71,073,086 (GRCm39) |
critical splice donor site |
probably null |
|
R5850:Dlgap1
|
UTSW |
17 |
71,094,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Dlgap1
|
UTSW |
17 |
71,122,388 (GRCm39) |
intron |
probably benign |
|
R5883:Dlgap1
|
UTSW |
17 |
70,824,008 (GRCm39) |
intron |
probably benign |
|
R6045:Dlgap1
|
UTSW |
17 |
71,125,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Dlgap1
|
UTSW |
17 |
71,122,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R6448:Dlgap1
|
UTSW |
17 |
70,900,325 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6682:Dlgap1
|
UTSW |
17 |
71,094,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R6795:Dlgap1
|
UTSW |
17 |
71,125,069 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7147:Dlgap1
|
UTSW |
17 |
70,969,753 (GRCm39) |
missense |
probably benign |
0.00 |
R7187:Dlgap1
|
UTSW |
17 |
70,823,093 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7382:Dlgap1
|
UTSW |
17 |
71,094,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R7859:Dlgap1
|
UTSW |
17 |
70,823,683 (GRCm39) |
missense |
probably benign |
|
R7932:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R8477:Dlgap1
|
UTSW |
17 |
70,823,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R8673:Dlgap1
|
UTSW |
17 |
71,122,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Dlgap1
|
UTSW |
17 |
70,823,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R8910:Dlgap1
|
UTSW |
17 |
71,093,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Dlgap1
|
UTSW |
17 |
70,823,528 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9012:Dlgap1
|
UTSW |
17 |
70,823,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9035:Dlgap1
|
UTSW |
17 |
70,823,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9067:Dlgap1
|
UTSW |
17 |
71,116,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9361:Dlgap1
|
UTSW |
17 |
71,068,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Dlgap1
|
UTSW |
17 |
70,823,964 (GRCm39) |
missense |
probably benign |
0.11 |
R9550:Dlgap1
|
UTSW |
17 |
71,093,902 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9564:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
R9565:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
T0975:Dlgap1
|
UTSW |
17 |
70,823,950 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1176:Dlgap1
|
UTSW |
17 |
71,122,204 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Dlgap1
|
UTSW |
17 |
70,969,738 (GRCm39) |
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 |