Incidental Mutation 'R7147:Dlgap1'
ID |
553913 |
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 |
045224-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7147 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70969753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 520
(S520P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000097288]
[ENSMUST00000133717]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000140728]
[ENSMUST00000146730]
[ENSMUST00000155016]
[ENSMUST00000148486]
|
AlphaFold |
Q9D415 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060072
AA Change: S520P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052858 Gene: ENSMUSG00000003279 AA Change: S520P
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 |
possibly damaging
Transcript: ENSMUST00000097288
AA Change: S212P
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000094890 Gene: ENSMUSG00000003279 AA Change: S212P
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 |
possibly damaging
Transcript: ENSMUST00000133717
AA Change: S222P
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122370 Gene: ENSMUSG00000003279 AA Change: S222P
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 |
possibly damaging
Transcript: ENSMUST00000133983
AA Change: S520P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000116716 Gene: ENSMUSG00000003279 AA Change: S520P
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 |
possibly damaging
Transcript: ENSMUST00000135938
AA Change: S520P
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118497 Gene: ENSMUSG00000003279 AA Change: S520P
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 |
possibly damaging
Transcript: ENSMUST00000140728
AA Change: S220P
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117358 Gene: ENSMUSG00000003279 AA Change: S220P
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 |
possibly damaging
Transcript: ENSMUST00000146730
AA Change: S520P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116072 Gene: ENSMUSG00000003279 AA Change: S520P
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 benign
Transcript: ENSMUST00000155016
AA Change: S520P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000122896 Gene: ENSMUSG00000003279 AA Change: S520P
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 |
possibly damaging
Transcript: ENSMUST00000148486
AA Change: S220P
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122337 Gene: ENSMUSG00000003279 AA Change: S220P
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
C |
T |
14: 56,017,182 (GRCm39) |
G303D |
probably damaging |
Het |
Adgra3 |
C |
T |
5: 50,118,587 (GRCm39) |
G987D |
probably damaging |
Het |
Akap11 |
A |
G |
14: 78,748,905 (GRCm39) |
S1161P |
|
Het |
Ampd3 |
G |
A |
7: 110,404,059 (GRCm39) |
E528K |
probably damaging |
Het |
Arl8b |
G |
A |
6: 108,791,976 (GRCm39) |
R79Q |
probably damaging |
Het |
Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
Cald1 |
A |
T |
6: 34,723,231 (GRCm39) |
Q105L |
|
Het |
Casd1 |
T |
C |
6: 4,624,187 (GRCm39) |
Y327H |
probably benign |
Het |
Chodl |
T |
A |
16: 78,743,629 (GRCm39) |
C239S |
probably damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,066,546 (GRCm39) |
H781L |
probably benign |
Het |
Dlg1 |
A |
T |
16: 31,610,672 (GRCm39) |
M318L |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,324,013 (GRCm39) |
I950V |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,985,755 (GRCm39) |
T1441S |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,849,654 (GRCm39) |
N1638K |
unknown |
Het |
Ect2 |
A |
T |
3: 27,204,239 (GRCm39) |
D23E |
probably benign |
Het |
Ephx1 |
T |
A |
1: 180,829,384 (GRCm39) |
T55S |
probably damaging |
Het |
F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
Fbxw27 |
A |
G |
9: 109,618,391 (GRCm39) |
|
probably null |
Het |
Fhl5 |
T |
A |
4: 25,213,777 (GRCm39) |
|
probably null |
Het |
Gm5145 |
G |
A |
17: 20,791,323 (GRCm39) |
E234K |
probably damaging |
Het |
Gpr39 |
G |
A |
1: 125,800,238 (GRCm39) |
D330N |
possibly damaging |
Het |
Greb1 |
C |
T |
12: 16,783,428 (GRCm39) |
R102H |
probably damaging |
Het |
H4c17 |
A |
G |
13: 21,996,159 (GRCm39) |
D69G |
probably damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,321,676 (GRCm39) |
K361R |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,629,400 (GRCm39) |
D245G |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,891,267 (GRCm39) |
V416A |
possibly damaging |
Het |
Kif21a |
A |
G |
15: 90,865,086 (GRCm39) |
S529P |
probably benign |
Het |
Limk1 |
A |
G |
5: 134,686,195 (GRCm39) |
M609T |
probably benign |
Het |
Lrrc75a |
G |
A |
11: 62,496,795 (GRCm39) |
P256S |
probably damaging |
Het |
Mcc |
T |
C |
18: 44,626,580 (GRCm39) |
R339G |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,065,495 (GRCm39) |
W371* |
probably null |
Het |
Mei4 |
T |
A |
9: 81,809,649 (GRCm39) |
L244Q |
probably damaging |
Het |
Mical2 |
C |
T |
7: 111,922,810 (GRCm39) |
P605L |
possibly damaging |
Het |
Mrgprf |
G |
T |
7: 144,862,128 (GRCm39) |
R230L |
possibly damaging |
Het |
Nlgn1 |
T |
A |
3: 26,187,509 (GRCm39) |
R125S |
probably benign |
Het |
Or52h7 |
A |
G |
7: 104,213,273 (GRCm39) |
|
probably benign |
Het |
Papola |
A |
T |
12: 105,774,897 (GRCm39) |
|
probably benign |
Het |
Pold2 |
T |
C |
11: 5,823,095 (GRCm39) |
D360G |
probably benign |
Het |
Prr12 |
T |
C |
7: 44,683,274 (GRCm39) |
R1797G |
unknown |
Het |
Psmg2 |
C |
T |
18: 67,786,338 (GRCm39) |
P233S |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,553,781 (GRCm39) |
W857R |
probably damaging |
Het |
Raet1e |
A |
T |
10: 22,057,179 (GRCm39) |
M168L |
probably benign |
Het |
Rhbdl2 |
A |
T |
4: 123,703,908 (GRCm39) |
Y61F |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,398,016 (GRCm39) |
N236S |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 110,046,268 (GRCm39) |
S310T |
probably benign |
Het |
Sdr42e2 |
A |
T |
7: 120,412,238 (GRCm39) |
R33S |
probably damaging |
Het |
Sh3d19 |
T |
A |
3: 86,011,584 (GRCm39) |
I390N |
possibly damaging |
Het |
Slco3a1 |
A |
G |
7: 74,154,042 (GRCm39) |
Y177H |
probably damaging |
Het |
Smo |
G |
A |
6: 29,758,448 (GRCm39) |
G531D |
possibly damaging |
Het |
Snx25 |
A |
C |
8: 46,558,233 (GRCm39) |
V258G |
probably damaging |
Het |
Spata31d1b |
T |
A |
13: 59,866,028 (GRCm39) |
S1059T |
probably benign |
Het |
Srgap2 |
C |
T |
1: 131,238,332 (GRCm39) |
C274Y |
|
Het |
Srrm1 |
A |
G |
4: 135,074,137 (GRCm39) |
I48T |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,199,340 (GRCm39) |
V3719E |
probably damaging |
Het |
Tcerg1 |
T |
A |
18: 42,683,128 (GRCm39) |
M616K |
probably benign |
Het |
Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
Tie1 |
A |
T |
4: 118,341,610 (GRCm39) |
V234D |
probably damaging |
Het |
Tom1 |
A |
G |
8: 75,783,895 (GRCm39) |
N293S |
probably damaging |
Het |
Trim13 |
A |
T |
14: 61,842,080 (GRCm39) |
K32N |
probably damaging |
Het |
Trim6 |
G |
A |
7: 103,874,777 (GRCm39) |
V5I |
probably benign |
Het |
Vps11 |
A |
T |
9: 44,266,379 (GRCm39) |
L436* |
probably null |
Het |
Vps50 |
C |
T |
6: 3,567,750 (GRCm39) |
Q549* |
probably null |
Het |
Vtcn1 |
T |
A |
3: 100,791,210 (GRCm39) |
F83I |
probably damaging |
Het |
Zfp131 |
T |
C |
13: 120,228,079 (GRCm39) |
T523A |
probably benign |
Het |
Zfp758 |
A |
T |
17: 22,594,981 (GRCm39) |
Y489F |
possibly damaging |
Het |
Zfp804a |
T |
C |
2: 82,088,531 (GRCm39) |
Y787H |
probably benign |
Het |
Zfp9 |
C |
T |
6: 118,441,963 (GRCm39) |
C233Y |
probably damaging |
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 |
|
R3881:Dlgap1
|
UTSW |
17 |
71,093,810 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GAACTGAGGGCCAGGTGTTTAC -3'
(R):5'- GAACCTGTCCTTCTCTGTGG -3'
Sequencing Primer
(F):5'- TTCCCACAGGTGAGCGAGATG -3'
(R):5'- GGACATAGGTGGCATTTGTTAC -3'
|
Posted On |
2019-05-15 |