Incidental Mutation 'IGL02226:Dlgap1'
| ID |
285352 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dlgap1
|
| Ensembl Gene |
ENSMUSG00000003279 |
| Gene Name |
DLG associated protein 1 |
| Synonyms |
Sapap1, Gkap, GKAP/SAPAP, SAPAP1, D17Bwg0511e, DAP-1 beta, 4933422O14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70823029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 5
(S5P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060072
AA Change: S5P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: S5P
| 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 |
noncoding transcript
Transcript: ENSMUST00000125691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130971
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133983
AA Change: S5P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: S5P
| 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: S5P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: S5P
| 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: ENSMUST00000146730
AA Change: S5P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: S5P
| 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 |
noncoding transcript
Transcript: ENSMUST00000150798
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155016
AA Change: S5P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: S5P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
| Dhrs3 |
C |
T |
4: 144,650,519 (GRCm39) |
R248W |
possibly damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,595 (GRCm39) |
I227K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
| Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
| Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
| Idh1 |
A |
T |
1: 65,201,081 (GRCm39) |
M290K |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
| Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
| Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
| Nle1 |
A |
T |
11: 82,795,133 (GRCm39) |
Y299* |
probably null |
Het |
| Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
| Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
| Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
| Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,851,745 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
A |
G |
5: 53,225,073 (GRCm39) |
T405A |
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,695 (GRCm39) |
M14K |
probably damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,691,696 (GRCm39) |
M14I |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
| Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
probably null |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation