Incidental Mutation 'R7859:Dlgap1'
ID |
607392 |
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 |
045912-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7859 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70823683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 223
(T223A)
|
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: T223A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052858 Gene: ENSMUSG00000003279 AA Change: T223A
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: ENSMUST00000133983
AA Change: T223A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116716 Gene: ENSMUSG00000003279 AA Change: T223A
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: T223A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118497 Gene: ENSMUSG00000003279 AA Change: T223A
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: T223A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116072 Gene: ENSMUSG00000003279 AA Change: T223A
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: T223A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122896 Gene: ENSMUSG00000003279 AA Change: T223A
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
Arsb |
T |
A |
13: 93,998,615 (GRCm39) |
S308T |
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,346,526 (GRCm39) |
D428G |
probably benign |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
Slc43a1 |
T |
C |
2: 84,687,220 (GRCm39) |
F374L |
possibly damaging |
Het |
Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
Usp54 |
T |
C |
14: 20,638,204 (GRCm39) |
E255G |
probably benign |
Het |
Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,212 (GRCm39) |
Y80C |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
Zfp457 |
A |
G |
13: 67,454,445 (GRCm39) |
|
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 |
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 |
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'- TTTACTAAGTCTCATTCCCTGGAGG -3'
(R):5'- AGGACCAGGCACTCTTCTTC -3'
Sequencing Primer
(F):5'- TCCAAAGGCAGCGTCAACG -3'
(R):5'- TTCTTCAGAAGCGGGGCATC -3'
|
Posted On |
2019-12-20 |