Incidental Mutation 'R5522:Dlgap1'
ID |
431639 |
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 |
043081-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5522 (G1)
|
Quality Score |
181 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 70823993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
AlphaFold |
Q9D415 |
Predicted Effect |
probably null
Transcript: ENSMUST00000060072
|
SMART Domains |
Protein: ENSMUSP00000052858 Gene: ENSMUSG00000003279
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 null
Transcript: ENSMUST00000133983
|
SMART Domains |
Protein: ENSMUSP00000116716 Gene: ENSMUSG00000003279
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
|
SMART Domains |
Protein: ENSMUSP00000118497 Gene: ENSMUSG00000003279
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: ENSMUST00000135938
|
SMART Domains |
Protein: ENSMUSP00000118497 Gene: ENSMUSG00000003279
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: ENSMUST00000146730
|
SMART Domains |
Protein: ENSMUSP00000116072 Gene: ENSMUSG00000003279
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: ENSMUST00000146730
|
SMART Domains |
Protein: ENSMUSP00000116072 Gene: ENSMUSG00000003279
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 null
Transcript: ENSMUST00000155016
|
SMART Domains |
Protein: ENSMUSP00000122896 Gene: ENSMUSG00000003279
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: 99.0%
- 3x: 97.4%
- 10x: 93.9%
- 20x: 85.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
T |
C |
8: 84,649,704 (GRCm39) |
Y121H |
possibly damaging |
Het |
Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
T |
A |
4: 140,731,671 (GRCm39) |
|
probably null |
Het |
Cd69 |
A |
T |
6: 129,248,379 (GRCm39) |
S36T |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,449,005 (GRCm39) |
I124L |
probably benign |
Het |
Cerkl |
T |
C |
2: 79,223,328 (GRCm39) |
H131R |
probably benign |
Het |
Cfap57 |
A |
T |
4: 118,453,085 (GRCm39) |
N539K |
probably benign |
Het |
Cyp4x1 |
C |
A |
4: 114,979,174 (GRCm39) |
W141L |
probably damaging |
Het |
Dnaaf9 |
G |
A |
2: 130,656,222 (GRCm39) |
|
probably benign |
Het |
Dst |
T |
C |
1: 34,296,954 (GRCm39) |
I5781T |
possibly damaging |
Het |
Epha2 |
T |
A |
4: 141,035,867 (GRCm39) |
V101E |
probably damaging |
Het |
Exph5 |
T |
C |
9: 53,285,613 (GRCm39) |
F898S |
possibly damaging |
Het |
Fyco1 |
G |
A |
9: 123,623,836 (GRCm39) |
R1398* |
probably null |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Grb10 |
T |
C |
11: 11,886,746 (GRCm39) |
I508V |
probably benign |
Het |
Igf1r |
C |
A |
7: 67,833,258 (GRCm39) |
Q473K |
probably damaging |
Het |
Ighv1-66 |
T |
A |
12: 115,556,755 (GRCm39) |
D109V |
probably damaging |
Het |
Ipmk |
C |
A |
10: 71,199,304 (GRCm39) |
T55K |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,087,225 (GRCm39) |
Y192H |
probably damaging |
Het |
Krt32 |
A |
T |
11: 99,977,497 (GRCm39) |
|
probably null |
Het |
Kti12 |
T |
A |
4: 108,705,620 (GRCm39) |
L178Q |
possibly damaging |
Het |
Mchr1 |
A |
T |
15: 81,122,211 (GRCm39) |
K320N |
possibly damaging |
Het |
Mdn1 |
T |
C |
4: 32,685,783 (GRCm39) |
L858S |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,464,353 (GRCm39) |
F198Y |
probably damaging |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nfatc1 |
T |
C |
18: 80,696,744 (GRCm39) |
T647A |
probably benign |
Het |
Nuf2 |
A |
G |
1: 169,326,453 (GRCm39) |
Y433H |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,061,972 (GRCm39) |
V717A |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,484 (GRCm39) |
Y123C |
probably damaging |
Het |
Or5h17 |
A |
T |
16: 58,820,268 (GRCm39) |
L73F |
probably benign |
Het |
Or6c35 |
A |
T |
10: 129,168,798 (GRCm39) |
D16V |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,811,520 (GRCm39) |
Y1210C |
probably damaging |
Het |
Pcdhb6 |
A |
G |
18: 37,467,402 (GRCm39) |
I108V |
probably benign |
Het |
Plac8 |
T |
A |
5: 100,710,584 (GRCm39) |
T6S |
probably benign |
Het |
Plbd1 |
A |
T |
6: 136,594,298 (GRCm39) |
V317E |
probably benign |
Het |
Rars1 |
A |
T |
11: 35,708,195 (GRCm39) |
Y406* |
probably null |
Het |
Scamp3 |
T |
C |
3: 89,084,929 (GRCm39) |
F11L |
possibly damaging |
Het |
Sctr |
A |
G |
1: 119,964,146 (GRCm39) |
N142S |
probably benign |
Het |
Sh2d4a |
T |
C |
8: 68,749,349 (GRCm39) |
S128P |
probably benign |
Het |
Snrnp70 |
C |
T |
7: 45,026,601 (GRCm39) |
|
probably benign |
Het |
Taf3 |
T |
C |
2: 9,945,816 (GRCm39) |
K596R |
probably damaging |
Het |
Tango6 |
T |
C |
8: 107,422,230 (GRCm39) |
|
probably null |
Het |
Taok3 |
A |
G |
5: 117,411,822 (GRCm39) |
T414A |
probably benign |
Het |
Tmem104 |
G |
A |
11: 115,079,149 (GRCm39) |
|
probably null |
Het |
Tmem231 |
T |
A |
8: 112,645,042 (GRCm39) |
S155C |
possibly damaging |
Het |
Tssk3 |
G |
A |
4: 129,383,343 (GRCm39) |
R110W |
possibly damaging |
Het |
Ugt2b37 |
T |
C |
5: 87,388,759 (GRCm39) |
T485A |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,613,974 (GRCm39) |
K292E |
possibly damaging |
Het |
Upf3a |
T |
A |
8: 13,845,497 (GRCm39) |
|
probably null |
Het |
Usp24 |
T |
A |
4: 106,229,918 (GRCm39) |
V797E |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,839,929 (GRCm39) |
T1872A |
possibly damaging |
Het |
Vmn1r195 |
A |
G |
13: 22,463,120 (GRCm39) |
M197V |
probably damaging |
Het |
Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,661,718 (GRCm39) |
D578E |
probably benign |
Het |
Xpo7 |
A |
T |
14: 70,909,090 (GRCm39) |
Y810* |
probably null |
Het |
Zcchc2 |
A |
G |
1: 105,951,426 (GRCm39) |
N587S |
probably benign |
Het |
Zfp189 |
C |
T |
4: 49,529,739 (GRCm39) |
R281* |
probably null |
Het |
Zranb1 |
T |
C |
7: 132,585,678 (GRCm39) |
*735R |
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 |
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 |
|
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'- AGGCTTCCCGGAGTAACAATG -3'
(R):5'- ATGAAGTTGCTAGACGATGTCTCC -3'
Sequencing Primer
(F):5'- GACATCAAGTGCTCCACCTGTG -3'
(R):5'- GCTAGACGATGTCTCCTTGAG -3'
|
Posted On |
2016-10-05 |