Incidental Mutation 'IGL01413:Dlgap1'
| ID |
80128 |
| 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 # |
IGL01413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70823069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 18
(A18E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060072
AA Change: A18E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: A18E
| 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: A18E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: A18E
| 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: A18E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: A18E
| 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: A18E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: A18E
| 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: A18E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: A18E
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
A |
T |
18: 74,939,015 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
T |
A |
8: 84,656,486 (GRCm39) |
I268N |
probably damaging |
Het |
| Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
| Ass1 |
A |
G |
2: 31,366,934 (GRCm39) |
Y11C |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,644,632 (GRCm39) |
E448G |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,915,343 (GRCm39) |
S639P |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,448,969 (GRCm39) |
G1207E |
unknown |
Het |
| Cracdl |
G |
A |
1: 37,651,387 (GRCm39) |
A1160V |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,943,894 (GRCm39) |
L58Q |
possibly damaging |
Het |
| Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,323,790 (GRCm39) |
L3707F |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,120,812 (GRCm39) |
M669K |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,151,191 (GRCm39) |
N289D |
probably benign |
Het |
| Fbrsl1 |
T |
A |
5: 110,526,114 (GRCm39) |
E443D |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,052,239 (GRCm39) |
C288* |
probably null |
Het |
| Gabbr1 |
A |
G |
17: 37,373,598 (GRCm39) |
N498S |
possibly damaging |
Het |
| Gja10 |
T |
C |
4: 32,602,070 (GRCm39) |
K105E |
probably damaging |
Het |
| Glra4 |
C |
T |
X: 135,663,493 (GRCm39) |
R352H |
probably benign |
Het |
| Gm19402 |
G |
T |
10: 77,526,323 (GRCm39) |
|
probably benign |
Het |
| Hadha |
T |
A |
5: 30,346,025 (GRCm39) |
M200L |
probably benign |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,665,676 (GRCm39) |
Q1231L |
possibly damaging |
Het |
| Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
| Il1rl1 |
A |
T |
1: 40,485,329 (GRCm39) |
K260N |
possibly damaging |
Het |
| Lhx6 |
C |
A |
2: 35,993,528 (GRCm39) |
A57S |
probably benign |
Het |
| Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
| Met |
T |
C |
6: 17,558,895 (GRCm39) |
|
probably benign |
Het |
| Mgam |
A |
G |
6: 40,638,211 (GRCm39) |
D387G |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,302,411 (GRCm39) |
S287P |
probably benign |
Het |
| Nol8 |
T |
G |
13: 49,813,428 (GRCm39) |
N140K |
possibly damaging |
Het |
| Nrap |
C |
A |
19: 56,377,823 (GRCm39) |
A56S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,876,030 (GRCm39) |
T548A |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
| Or2i1 |
A |
T |
17: 37,508,554 (GRCm39) |
F102I |
possibly damaging |
Het |
| Pcdh11x |
A |
G |
X: 119,309,282 (GRCm39) |
T242A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,186,147 (GRCm39) |
I1215V |
possibly damaging |
Het |
| Plekha8 |
C |
T |
6: 54,599,261 (GRCm39) |
T265I |
probably benign |
Het |
| Pou4f2 |
T |
A |
8: 79,161,734 (GRCm39) |
I290F |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
| Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
| Rab28 |
A |
T |
5: 41,855,790 (GRCm39) |
D68E |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
| Samd4 |
A |
G |
14: 47,254,249 (GRCm39) |
T137A |
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,277,842 (GRCm39) |
D358E |
probably damaging |
Het |
| Serpinb9c |
G |
A |
13: 33,335,787 (GRCm39) |
L222F |
probably damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
| Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
| Spef2 |
T |
A |
15: 9,676,376 (GRCm39) |
I732L |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,999 (GRCm39) |
|
probably benign |
Het |
| Ssxb13 |
A |
G |
X: 8,615,692 (GRCm39) |
E75G |
probably benign |
Het |
| Stmnd1 |
A |
T |
13: 46,453,157 (GRCm39) |
I278L |
probably benign |
Het |
| Strap |
C |
A |
6: 137,722,502 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Tcf4 |
A |
C |
18: 69,788,090 (GRCm39) |
E160D |
probably damaging |
Het |
| Themis3 |
A |
G |
17: 66,863,092 (GRCm39) |
Y289H |
probably benign |
Het |
| Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,033,678 (GRCm39) |
V963A |
possibly damaging |
Het |
| Trav19 |
G |
T |
14: 54,083,072 (GRCm39) |
C49F |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
| Usp9x |
A |
G |
X: 13,017,579 (GRCm39) |
S1696G |
probably benign |
Het |
| Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,046 (GRCm39) |
V153E |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,282,827 (GRCm39) |
T174A |
probably benign |
Het |
| Wdr59 |
T |
A |
8: 112,227,706 (GRCm39) |
S124C |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,340,270 (GRCm39) |
D837V |
probably damaging |
Het |
| Zfp185 |
A |
G |
X: 72,061,997 (GRCm39) |
D403G |
possibly damaging |
Het |
| Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
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 |
|
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 |
2013-11-05 |
Incidental Mutation