Incidental Mutation 'R3743:Dlgap1'
| ID |
270476 |
| 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 |
040729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 71025221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000097288]
[ENSMUST00000133717]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000140728]
[ENSMUST00000155016]
[ENSMUST00000146730]
[ENSMUST00000148486]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably benign
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 |
probably null
Transcript: ENSMUST00000097288
|
| SMART Domains |
Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
345 |
625 |
9.4e-106 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126801
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133717
|
| SMART Domains |
Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
327 |
666 |
1.3e-139 |
PFAM |
|
| Predicted Effect |
probably benign
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: ENSMUST00000140728
|
| SMART Domains |
Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
352 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
353 |
692 |
1.4e-139 |
PFAM |
|
| 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 |
|
| 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: ENSMUST00000150260
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148486
|
| SMART Domains |
Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
215 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
342 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
343 |
682 |
1.3e-139 |
PFAM |
|
| Meta Mutation Damage Score |
0.9477 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
| 1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
| Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
| Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
| Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
| Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
| Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
| Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
| Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
| Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
| Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
| Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGCTGATAGCTGCTGTCTTTC -3'
(R):5'- TACAGACAGACATGTGCGC -3'
Sequencing Primer
(F):5'- AGCTGCTGTCTTTCATTTTTGAAATC -3'
(R):5'- ACATGTGCGCCCCGTATTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation