Incidental Mutation 'R5473:Dlgap1'
| ID |
433954 |
| 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 |
043034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5473 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 70824025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 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 benign
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 benign
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 benign
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: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
C |
7: 119,312,173 (GRCm39) |
Y549H |
probably damaging |
Het |
| Adamtsl4 |
G |
T |
3: 95,587,303 (GRCm39) |
Q758K |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,449,115 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,492,797 (GRCm39) |
C1316S |
probably benign |
Het |
| Birc5 |
T |
C |
11: 117,743,533 (GRCm39) |
V89A |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,391,048 (GRCm39) |
|
probably benign |
Het |
| Ccdc47 |
A |
T |
11: 106,095,855 (GRCm39) |
S280R |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 116,016,986 (GRCm39) |
F193Y |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,579 (GRCm39) |
D70E |
possibly damaging |
Het |
| Col24a1 |
A |
C |
3: 145,243,016 (GRCm39) |
M1519L |
probably benign |
Het |
| Col2a1 |
G |
T |
15: 97,885,370 (GRCm39) |
A491D |
unknown |
Het |
| Crat |
A |
G |
2: 30,297,726 (GRCm39) |
L266P |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,174,591 (GRCm39) |
V153A |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,039,351 (GRCm39) |
H104L |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,782 (GRCm39) |
K774E |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,538 (GRCm39) |
I464T |
probably benign |
Het |
| Gorasp2 |
A |
C |
2: 70,508,950 (GRCm39) |
M123L |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,678,261 (GRCm39) |
V188E |
probably damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,541,913 (GRCm39) |
W333R |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,154,985 (GRCm39) |
Y175H |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,914,201 (GRCm39) |
T1756K |
probably benign |
Het |
| Kcnq5 |
A |
G |
1: 21,527,626 (GRCm39) |
|
probably null |
Het |
| Kiz |
G |
T |
2: 146,811,915 (GRCm39) |
E675* |
probably null |
Het |
| Mcm3ap |
T |
G |
10: 76,338,593 (GRCm39) |
L1407R |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,952 (GRCm39) |
D444G |
probably benign |
Het |
| Myl3 |
C |
A |
9: 110,597,026 (GRCm39) |
H129N |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,788,126 (GRCm39) |
N1309S |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,897,520 (GRCm39) |
Y269N |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,395,585 (GRCm39) |
N1165S |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,334,856 (GRCm39) |
D302G |
probably benign |
Het |
| Olfr908 |
A |
G |
9: 38,427,508 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or10j3 |
G |
C |
1: 173,031,732 (GRCm39) |
G270R |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,630 (GRCm39) |
F247L |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,981 (GRCm39) |
M116K |
possibly damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,045 (GRCm38) |
S241R |
probably damaging |
Het |
| Pde1a |
G |
T |
2: 79,736,372 (GRCm39) |
S87R |
probably damaging |
Het |
| Plagl2 |
A |
T |
2: 153,074,114 (GRCm39) |
C262* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,361,140 (GRCm39) |
K1233R |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,045,229 (GRCm39) |
M951K |
probably benign |
Het |
| Pramel12 |
A |
G |
4: 143,145,874 (GRCm39) |
R448G |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,642,824 (GRCm39) |
K438E |
probably benign |
Het |
| Pum3 |
C |
A |
19: 27,396,248 (GRCm39) |
V328F |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,495 (GRCm39) |
E1677G |
probably benign |
Het |
| Rpf2 |
A |
G |
10: 40,103,627 (GRCm39) |
V96A |
possibly damaging |
Het |
| Rsrc2 |
C |
T |
5: 123,869,150 (GRCm39) |
A98T |
probably damaging |
Het |
| Saraf |
G |
A |
8: 34,628,412 (GRCm39) |
R86Q |
probably damaging |
Het |
| Scara5 |
T |
A |
14: 65,977,788 (GRCm39) |
D349E |
possibly damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,641,734 (GRCm39) |
V460A |
possibly damaging |
Het |
| Tdrd7 |
G |
T |
4: 46,020,877 (GRCm39) |
V768L |
possibly damaging |
Het |
| Tshz2 |
T |
C |
2: 169,725,718 (GRCm39) |
S105P |
probably benign |
Het |
| Ufsp2 |
A |
G |
8: 46,445,258 (GRCm39) |
I362M |
probably damaging |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,159 (GRCm39) |
I106K |
probably benign |
Het |
| Zdhhc5 |
A |
G |
2: 84,520,810 (GRCm39) |
Y456H |
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 |
|
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'- ATCAAGTGCTCCACCTGTGC -3'
(R):5'- GGAAGACACATGCGCCATATC -3'
Sequencing Primer
(F):5'- TGGATGCCCCGCTTCTGAAG -3'
(R):5'- GACACATGCGCCATATCTAATAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation