Incidental Mutation 'R9012:Dlgap1'
| ID |
685725 |
| 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 |
068842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70823182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 56
(E56K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060072
AA Change: E56K
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: E56K
| 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 |
possibly damaging
Transcript: ENSMUST00000133983
AA Change: E56K
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: E56K
| 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 |
possibly damaging
Transcript: ENSMUST00000135938
AA Change: E56K
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: E56K
| 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 |
possibly damaging
Transcript: ENSMUST00000146730
AA Change: E56K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: E56K
| 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 |
possibly damaging
Transcript: ENSMUST00000155016
AA Change: E56K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: E56K
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
T |
C |
8: 125,290,954 (GRCm39) |
N118D |
probably benign |
Het |
| Apol8 |
T |
C |
15: 77,634,324 (GRCm39) |
D84G |
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,187,838 (GRCm39) |
D19E |
probably benign |
Het |
| B3gnt3 |
G |
T |
8: 72,145,673 (GRCm39) |
H232N |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,921,964 (GRCm39) |
K347R |
probably damaging |
Het |
| Capn5 |
C |
T |
7: 97,814,050 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
C |
T |
1: 164,110,062 (GRCm39) |
R390W |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,859,077 (GRCm39) |
V93A |
|
Het |
| Cfap91 |
T |
C |
16: 38,122,335 (GRCm39) |
E712G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,268,567 (GRCm39) |
I191V |
possibly damaging |
Het |
| Coro1c |
T |
C |
5: 113,988,737 (GRCm39) |
D202G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,447 (GRCm39) |
I85T |
probably benign |
Het |
| Cyp2c55 |
C |
T |
19: 39,030,560 (GRCm39) |
T464I |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,470,156 (GRCm39) |
F298L |
probably damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,822,934 (GRCm39) |
W237R |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,711,347 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
A |
7: 80,032,884 (GRCm39) |
D287V |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,567,027 (GRCm39) |
W557L |
probably damaging |
Het |
| Gad2 |
A |
G |
2: 22,580,263 (GRCm39) |
N555D |
possibly damaging |
Het |
| Gm10277 |
C |
T |
11: 77,676,848 (GRCm39) |
R41K |
unknown |
Het |
| Gm21834 |
T |
C |
17: 58,049,162 (GRCm39) |
E18G |
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,829 (GRCm39) |
F346L |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,159,402 (GRCm39) |
V524E |
probably benign |
Het |
| Ikbke |
T |
C |
1: 131,201,190 (GRCm39) |
I207V |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,996 (GRCm39) |
I492V |
unknown |
Het |
| Itsn1 |
C |
A |
16: 91,645,849 (GRCm39) |
F846L |
unknown |
Het |
| Ldhal6b |
A |
T |
17: 5,467,942 (GRCm39) |
Y331N |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,978 (GRCm39) |
T1816P |
probably benign |
Het |
| Lzts1 |
C |
T |
8: 69,593,550 (GRCm39) |
R19H |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,934,606 (GRCm39) |
T338S |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,791,960 (GRCm39) |
E832G |
probably benign |
Het |
| Myom1 |
T |
G |
17: 71,407,103 (GRCm39) |
D1173E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,074,733 (GRCm39) |
I821F |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,021,423 (GRCm39) |
K806E |
probably benign |
Het |
| Or2ag13 |
T |
C |
7: 106,313,115 (GRCm39) |
M258V |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,929 (GRCm39) |
I209T |
possibly damaging |
Het |
| Or6c215 |
A |
C |
10: 129,637,471 (GRCm39) |
S308A |
probably benign |
Het |
| Palld |
T |
A |
8: 62,173,697 (GRCm39) |
S321C |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,062,847 (GRCm39) |
|
probably benign |
Het |
| Prr35 |
A |
G |
17: 26,166,685 (GRCm39) |
L284P |
probably benign |
Het |
| Psg26 |
T |
A |
7: 18,216,596 (GRCm39) |
H81L |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,489,411 (GRCm39) |
E905K |
probably benign |
Het |
| Siglecg |
T |
A |
7: 43,060,523 (GRCm39) |
L301Q |
probably damaging |
Het |
| Slc25a15 |
A |
G |
8: 22,867,878 (GRCm39) |
W301R |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,602,554 (GRCm39) |
V169D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,212,320 (GRCm39) |
V1174A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,982,491 (GRCm39) |
V363A |
probably damaging |
Het |
| Sppl3 |
C |
A |
5: 115,226,987 (GRCm39) |
P239T |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,500,611 (GRCm39) |
S650T |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,688 (GRCm39) |
T402A |
probably benign |
Het |
| Tmem104 |
A |
T |
11: 115,092,144 (GRCm39) |
E84D |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,523,208 (GRCm39) |
V56A |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,090 (GRCm39) |
T192A |
possibly damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,627 (GRCm39) |
D316G |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,915 (GRCm39) |
W218R |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,124,391 (GRCm39) |
S330G |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,971 (GRCm39) |
V220A |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,960 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,283 (GRCm39) |
C347S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,416 (GRCm39) |
C294* |
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 |
|
|
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 |
|
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'- TTAACGGGGTTCCCATGAC -3'
(R):5'- TAGCGTGTGATAGCCATCCC -3'
Sequencing Primer
(F):5'- GTTCCCATGACCCTGGGATTG -3'
(R):5'- CAAACTGATCCAGCAGGT -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation