Incidental Mutation 'R2076:Dlgap1'
| ID |
229190 |
| 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 |
040081-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 71093826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 716
(Q716*)
|
| 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 null
Transcript: ENSMUST00000060072
AA Change: Q706*
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: Q706*
| 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 null
Transcript: ENSMUST00000097288
AA Change: Q408*
|
| SMART Domains |
Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
AA Change: Q408*
| 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 null
Transcript: ENSMUST00000133717
AA Change: Q390*
|
| SMART Domains |
Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279
AA Change: Q390*
| 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 null
Transcript: ENSMUST00000133983
AA Change: Q706*
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: Q706*
| 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 null
Transcript: ENSMUST00000135938
AA Change: Q688*
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: Q688*
| 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 null
Transcript: ENSMUST00000140728
AA Change: Q416*
|
| SMART Domains |
Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
AA Change: Q416*
| 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 null
Transcript: ENSMUST00000155016
AA Change: Q716*
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: Q716*
| 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 null
Transcript: ENSMUST00000146730
AA Change: Q716*
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: Q716*
| 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 null
Transcript: ENSMUST00000148486
AA Change: Q406*
|
| SMART Domains |
Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
AA Change: Q406*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,178,478 (GRCm39) |
V1165D |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,627,910 (GRCm39) |
H103R |
probably damaging |
Het |
| Apba1 |
G |
T |
19: 23,870,587 (GRCm39) |
E140* |
probably null |
Het |
| Bicdl1 |
A |
T |
5: 115,793,987 (GRCm39) |
I253N |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,802 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,197,177 (GRCm39) |
R160G |
probably damaging |
Het |
| Cct7 |
A |
T |
6: 85,445,122 (GRCm39) |
I458F |
probably damaging |
Het |
| Cd3g |
T |
A |
9: 44,885,595 (GRCm39) |
D50V |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,745,660 (GRCm39) |
L461P |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,741 (GRCm39) |
D1763E |
possibly damaging |
Het |
| Csn2 |
A |
G |
5: 87,844,033 (GRCm39) |
S19P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,816,576 (GRCm39) |
V4D |
probably benign |
Het |
| Ddx3y |
A |
G |
Y: 1,266,593 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
G |
T |
18: 84,755,033 (GRCm39) |
D170Y |
probably damaging |
Het |
| Dlx6 |
A |
G |
6: 6,867,098 (GRCm39) |
S234G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,542,968 (GRCm39) |
T2401A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,281,481 (GRCm39) |
Y2847* |
probably null |
Het |
| Dpysl2 |
A |
G |
14: 67,102,571 (GRCm39) |
S30P |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,786,620 (GRCm39) |
D441G |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,553,567 (GRCm39) |
L50* |
probably null |
Het |
| Fam135b |
T |
A |
15: 71,350,092 (GRCm39) |
E349D |
probably damaging |
Het |
| Foxl3 |
A |
G |
5: 138,807,022 (GRCm39) |
D100G |
probably benign |
Het |
| Frat2 |
T |
C |
19: 41,836,242 (GRCm39) |
T37A |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,317,869 (GRCm39) |
|
probably null |
Het |
| Ift25 |
T |
C |
4: 107,136,964 (GRCm39) |
S121P |
possibly damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,162 (GRCm39) |
A213V |
probably damaging |
Het |
| Irf2 |
G |
T |
8: 47,298,962 (GRCm39) |
W252L |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,416,384 (GRCm39) |
D260G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,152,513 (GRCm39) |
H338L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,314,100 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
C |
16: 19,936,628 (GRCm39) |
V412A |
probably damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,750 (GRCm39) |
K70* |
probably null |
Het |
| Mrtfb |
T |
C |
16: 13,219,246 (GRCm39) |
S631P |
probably benign |
Het |
| Myo1e |
T |
A |
9: 70,291,159 (GRCm39) |
N983K |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,340,691 (GRCm39) |
R2010G |
probably benign |
Het |
| Npw |
A |
T |
17: 24,876,413 (GRCm39) |
V166D |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,262,881 (GRCm39) |
Y169C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,178,479 (GRCm39) |
Y579H |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,958,693 (GRCm39) |
T330A |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,042,229 (GRCm39) |
V1592M |
probably damaging |
Het |
| Ppp2r3d |
A |
C |
9: 101,021,570 (GRCm39) |
M955R |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,364 (GRCm39) |
I1349K |
probably damaging |
Het |
| Rad52 |
C |
T |
6: 119,888,040 (GRCm39) |
H9Y |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,520 (GRCm39) |
Q466R |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,262 (GRCm39) |
I1227N |
possibly damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,164,088 (GRCm39) |
M273V |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,082,410 (GRCm39) |
V406A |
possibly damaging |
Het |
| Slc30a3 |
G |
T |
5: 31,244,165 (GRCm39) |
Y323* |
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,742,770 (GRCm39) |
I441V |
possibly damaging |
Het |
| Spast |
G |
C |
17: 74,659,026 (GRCm39) |
G131A |
probably damaging |
Het |
| Syne1 |
C |
G |
10: 4,990,897 (GRCm39) |
W8444S |
probably damaging |
Het |
| Tgm4 |
G |
T |
9: 122,880,160 (GRCm39) |
A211S |
probably benign |
Het |
| Themis2 |
T |
C |
4: 132,513,113 (GRCm39) |
D371G |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
| Uba3 |
G |
T |
6: 97,176,241 (GRCm39) |
D88E |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,144 (GRCm39) |
M111K |
probably damaging |
Het |
| Wdr35 |
C |
T |
12: 9,074,281 (GRCm39) |
H971Y |
possibly damaging |
Het |
| Yeats2 |
C |
A |
16: 20,005,032 (GRCm39) |
H356Q |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,528 (GRCm39) |
K316E |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,902,771 (GRCm39) |
L900P |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,410 (GRCm39) |
N423D |
possibly damaging |
Het |
| Zfp932 |
A |
G |
5: 110,157,334 (GRCm39) |
Q344R |
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 |
|
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 |
|
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'- TTTCTCCAGACACCAAGATGG -3'
(R):5'- GATAGAGTCAATCCAGGGGTCC -3'
Sequencing Primer
(F):5'- TTTCTCCAGACACCAAGATGGAAAAG -3'
(R):5'- GGTCAAAATCCGTGTCAAAGTCGTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation