Incidental Mutation 'R5850:Dlgap1'
| ID |
454641 |
| 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 |
043226-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71094087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 803
(V803M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000097288]
[ENSMUST00000133717]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000140728]
[ENSMUST00000146730]
[ENSMUST00000148486]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060072
AA Change: V793M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: V793M
| 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 damaging
Transcript: ENSMUST00000097288
AA Change: V495M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
AA Change: V495M
| 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 damaging
Transcript: ENSMUST00000133717
AA Change: V477M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279
AA Change: V477M
| 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 damaging
Transcript: ENSMUST00000133983
AA Change: V793M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: V793M
| 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 damaging
Transcript: ENSMUST00000135938
AA Change: V775M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: V775M
| 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 damaging
Transcript: ENSMUST00000140728
AA Change: V503M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
AA Change: V503M
| 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 damaging
Transcript: ENSMUST00000146730
AA Change: V803M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: V803M
| 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 damaging
Transcript: ENSMUST00000148486
AA Change: V493M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
AA Change: V493M
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155016
AA Change: V803M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: V803M
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Abhd14a |
A |
C |
9: 106,317,548 (GRCm39) |
L225R |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,790 (GRCm39) |
S39P |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,451,116 (GRCm39) |
S2637P |
possibly damaging |
Het |
| Apold1 |
T |
C |
6: 134,961,058 (GRCm39) |
F171L |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,049 (GRCm39) |
M967T |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,543,785 (GRCm39) |
|
probably null |
Het |
| Bcl2l15 |
T |
A |
3: 103,743,432 (GRCm39) |
V111D |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,149 (GRCm39) |
M1201K |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,859,747 (GRCm39) |
N965Y |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,577 (GRCm39) |
Y98H |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,460,775 (GRCm39) |
R117* |
probably null |
Het |
| Drd3 |
A |
C |
16: 43,638,695 (GRCm39) |
M299L |
probably benign |
Het |
| Ergic2 |
C |
A |
6: 148,084,605 (GRCm39) |
M34I |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,004 (GRCm39) |
D92E |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,086,111 (GRCm39) |
|
probably benign |
Het |
| Ganab |
C |
T |
19: 8,889,071 (GRCm39) |
R591W |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,683,172 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,099 (GRCm39) |
E813G |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,247,675 (GRCm39) |
T1621A |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,554,124 (GRCm39) |
Q139* |
probably null |
Het |
| Os9 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
10: 126,934,348 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
T |
G |
14: 54,605,121 (GRCm39) |
V11G |
possibly damaging |
Het |
| Padi1 |
A |
G |
4: 140,542,141 (GRCm39) |
Y594H |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,903,667 (GRCm39) |
F327I |
probably benign |
Het |
| Prf1 |
G |
T |
10: 61,135,972 (GRCm39) |
A83S |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,981,127 (GRCm39) |
E470G |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc19a2 |
A |
G |
1: 164,091,025 (GRCm39) |
I278V |
probably benign |
Het |
| Smco1 |
A |
T |
16: 32,092,674 (GRCm39) |
N115I |
probably damaging |
Het |
| Smyd3 |
G |
A |
1: 178,871,420 (GRCm39) |
L320F |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,098,900 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,144,749 (GRCm39) |
D1566G |
probably damaging |
Het |
| Tpm2 |
T |
C |
4: 43,523,296 (GRCm39) |
D20G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,281,045 (GRCm39) |
Y241C |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 122,960,417 (GRCm39) |
|
probably null |
Het |
| Wdr45b |
A |
G |
11: 121,221,923 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,745,414 (GRCm39) |
I468V |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
|
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'- CCAACAGTGTGACAACTGCAG -3'
(R):5'- GTTACACAAGTTGGGATGACGG -3'
Sequencing Primer
(F):5'- GACCTGGACTTCCATGATAATCTGG -3'
(R):5'- TTAGGAAAACGCACAAGCCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation