Incidental Mutation 'IGL00162:Dlgap1'
| ID |
768 |
| 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 # |
IGL00162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70823080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060072
AA Change: S22P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: S22P
| 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 benign
Transcript: ENSMUST00000133983
AA Change: S22P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: S22P
| 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 benign
Transcript: ENSMUST00000135938
AA Change: S22P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: S22P
| 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 benign
Transcript: ENSMUST00000146730
AA Change: S22P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: S22P
| 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 benign
Transcript: ENSMUST00000155016
AA Change: S22P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: S22P
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d1b |
T |
G |
4: 108,484,575 (GRCm39) |
L470R |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,892,162 (GRCm39) |
N275K |
possibly damaging |
Het |
| Col22a1 |
A |
G |
15: 71,732,807 (GRCm39) |
|
probably null |
Het |
| Cyb561 |
T |
C |
11: 105,826,662 (GRCm39) |
H197R |
probably damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,365,286 (GRCm39) |
|
probably benign |
Het |
| Fgf6 |
A |
T |
6: 127,001,048 (GRCm39) |
K185N |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,619 (GRCm39) |
N353S |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,359,335 (GRCm39) |
Y103* |
probably null |
Het |
| Gm7247 |
G |
A |
14: 51,760,962 (GRCm39) |
C177Y |
possibly damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,989 (GRCm39) |
F72L |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,470,416 (GRCm39) |
E368G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,942,462 (GRCm39) |
E851G |
probably benign |
Het |
| Kif3b |
A |
G |
2: 153,159,051 (GRCm39) |
D284G |
probably damaging |
Het |
| Kyat3 |
G |
A |
3: 142,440,235 (GRCm39) |
A320T |
probably benign |
Het |
| Mok |
C |
T |
12: 110,774,631 (GRCm39) |
|
probably benign |
Het |
| Mrgpra3 |
A |
G |
7: 47,239,267 (GRCm39) |
F220L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,407 (GRCm39) |
H192R |
probably benign |
Het |
| Or2ag19 |
A |
G |
7: 106,444,574 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,299,280 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Ptpn12 |
T |
C |
5: 21,234,848 (GRCm39) |
E45G |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,027,694 (GRCm39) |
*516R |
probably null |
Het |
| Rps23rg1 |
A |
G |
8: 3,633,904 (GRCm39) |
T2A |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,023,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Siglech |
T |
C |
7: 55,422,339 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,639,274 (GRCm39) |
L212P |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,772,668 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
T |
2: 26,259,324 (GRCm39) |
C609S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,707,979 (GRCm39) |
T139A |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,319 (GRCm39) |
T478A |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,853,727 (GRCm39) |
S198P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,720,823 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,463,034 (GRCm39) |
E406K |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,483 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
G |
4: 108,499,304 (GRCm39) |
V1338A |
possibly damaging |
Het |
|
| Other mutations in Dlgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation