Incidental Mutation 'IGL01604:Dlg1'
| ID |
92693 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dlg1
|
| Ensembl Gene |
ENSMUSG00000022770 |
| Gene Name |
discs large MAGUK scaffold protein 1 |
| Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 31675256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023454]
[ENSMUST00000064477]
[ENSMUST00000100001]
[ENSMUST00000115196]
[ENSMUST00000115201]
[ENSMUST00000115205]
[ENSMUST00000132176]
|
| AlphaFold |
Q811D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023454
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
441 |
514 |
1.84e-22 |
SMART |
|
low complexity region
|
534 |
542 |
N/A |
INTRINSIC |
|
SH3
|
551 |
617 |
1.27e-9 |
SMART |
|
GuKc
|
681 |
860 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064477
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
736 |
915 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100001
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115196
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
MAGUK_N_PEST
|
30 |
140 |
1.81e-14 |
SMART |
|
PDZ
|
149 |
228 |
5.98e-22 |
SMART |
|
PDZ
|
244 |
323 |
1.94e-21 |
SMART |
|
PDZ
|
391 |
464 |
1.84e-22 |
SMART |
|
low complexity region
|
484 |
492 |
N/A |
INTRINSIC |
|
SH3
|
501 |
567 |
1.27e-9 |
SMART |
|
GuKc
|
643 |
822 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115201
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
721 |
900 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115205
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155847
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132176
|
| SMART Domains |
Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
426 |
499 |
1.84e-22 |
SMART |
|
low complexity region
|
519 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147382
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal lethality, craniofacial defects, and abnormal eye morphology. Mice homozygous for knock-out alleles exhibit neonatal lethality, kidney defects, reproductive organ morphology, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,168,462 (GRCm39) |
I1416L |
possibly damaging |
Het |
| Abcc4 |
A |
T |
14: 118,765,406 (GRCm39) |
M992K |
possibly damaging |
Het |
| Adnp |
A |
G |
2: 168,026,258 (GRCm39) |
S346P |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Cblif |
A |
G |
19: 11,735,126 (GRCm39) |
T249A |
probably benign |
Het |
| Ccl12 |
A |
G |
11: 81,994,059 (GRCm39) |
*105W |
probably null |
Het |
| Chd1 |
A |
G |
17: 15,990,359 (GRCm39) |
D1637G |
possibly damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,436,038 (GRCm39) |
|
probably null |
Het |
| Cul4a |
T |
C |
8: 13,183,843 (GRCm39) |
|
probably null |
Het |
| Fam171b |
A |
G |
2: 83,709,944 (GRCm39) |
T539A |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,749 (GRCm39) |
N1792D |
probably benign |
Het |
| Gm9696 |
A |
C |
3: 59,879,723 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,482 (GRCm39) |
F728I |
probably damaging |
Het |
| Megf9 |
C |
A |
4: 70,367,028 (GRCm39) |
C318F |
probably null |
Het |
| Mpi |
G |
A |
9: 57,458,025 (GRCm39) |
A59V |
possibly damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,130 (GRCm39) |
I103T |
probably damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,144 (GRCm39) |
R329H |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,327 (GRCm39) |
L1681F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,332,535 (GRCm39) |
|
probably benign |
Het |
| Or4k52 |
A |
G |
2: 111,610,935 (GRCm39) |
K90R |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,612 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,585,389 (GRCm39) |
E1596K |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,454 (GRCm39) |
E270G |
probably benign |
Het |
| Skor2 |
C |
A |
18: 76,947,646 (GRCm39) |
A456E |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,294,221 (GRCm39) |
I220T |
possibly damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,291,362 (GRCm39) |
M361K |
probably damaging |
Het |
| Tars2 |
G |
A |
3: 95,647,590 (GRCm39) |
R608C |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,593,746 (GRCm39) |
|
probably null |
Het |
| Tex14 |
A |
G |
11: 87,400,524 (GRCm39) |
I439V |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,899,031 (GRCm39) |
I690F |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,418,244 (GRCm39) |
I1684V |
possibly damaging |
Het |
| Xdh |
T |
C |
17: 74,216,332 (GRCm39) |
I705V |
probably benign |
Het |
|
| Other mutations in Dlg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02277:Dlg1
|
APN |
16 |
31,609,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Dlg1
|
APN |
16 |
31,590,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03025:Dlg1
|
APN |
16 |
31,624,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03271:Dlg1
|
APN |
16 |
31,676,710 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4812001:Dlg1
|
UTSW |
16 |
31,665,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0068:Dlg1
|
UTSW |
16 |
31,655,018 (GRCm39) |
unclassified |
probably benign |
|
|
R0115:Dlg1
|
UTSW |
16 |
31,624,508 (GRCm39) |
nonsense |
probably null |
|
|
R0128:Dlg1
|
UTSW |
16 |
31,676,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0257:Dlg1
|
UTSW |
16 |
31,661,671 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Dlg1
|
UTSW |
16 |
31,503,011 (GRCm39) |
missense |
probably benign |
|
|
R0312:Dlg1
|
UTSW |
16 |
31,609,085 (GRCm39) |
missense |
probably benign |
|
|
R0321:Dlg1
|
UTSW |
16 |
31,676,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Dlg1
|
UTSW |
16 |
31,502,992 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Dlg1
|
UTSW |
16 |
31,615,682 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0540:Dlg1
|
UTSW |
16 |
31,656,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Dlg1
|
UTSW |
16 |
31,656,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Dlg1
|
UTSW |
16 |
31,484,398 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0894:Dlg1
|
UTSW |
16 |
31,561,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1107:Dlg1
|
UTSW |
16 |
31,665,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1349:Dlg1
|
UTSW |
16 |
31,631,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Dlg1
|
UTSW |
16 |
31,631,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Dlg1
|
UTSW |
16 |
31,661,640 (GRCm39) |
splice site |
probably null |
|
|
R1468:Dlg1
|
UTSW |
16 |
31,661,640 (GRCm39) |
splice site |
probably null |
|
|
R1696:Dlg1
|
UTSW |
16 |
31,600,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1772:Dlg1
|
UTSW |
16 |
31,484,485 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1795:Dlg1
|
UTSW |
16 |
31,561,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2106:Dlg1
|
UTSW |
16 |
31,631,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Dlg1
|
UTSW |
16 |
31,672,664 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2207:Dlg1
|
UTSW |
16 |
31,672,664 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2846:Dlg1
|
UTSW |
16 |
31,682,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Dlg1
|
UTSW |
16 |
31,676,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Dlg1
|
UTSW |
16 |
31,609,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Dlg1
|
UTSW |
16 |
31,610,570 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4898:Dlg1
|
UTSW |
16 |
31,676,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Dlg1
|
UTSW |
16 |
31,573,626 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4966:Dlg1
|
UTSW |
16 |
31,573,626 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4985:Dlg1
|
UTSW |
16 |
31,606,953 (GRCm39) |
splice site |
probably null |
|
|
R5068:Dlg1
|
UTSW |
16 |
31,503,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5069:Dlg1
|
UTSW |
16 |
31,503,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5078:Dlg1
|
UTSW |
16 |
31,675,287 (GRCm39) |
nonsense |
probably null |
|
|
R5090:Dlg1
|
UTSW |
16 |
31,656,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Dlg1
|
UTSW |
16 |
31,655,085 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5888:Dlg1
|
UTSW |
16 |
31,610,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5950:Dlg1
|
UTSW |
16 |
31,484,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Dlg1
|
UTSW |
16 |
31,612,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Dlg1
|
UTSW |
16 |
31,655,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6246:Dlg1
|
UTSW |
16 |
31,484,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6294:Dlg1
|
UTSW |
16 |
31,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Dlg1
|
UTSW |
16 |
31,675,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Dlg1
|
UTSW |
16 |
31,610,672 (GRCm39) |
missense |
probably benign |
|
|
R7216:Dlg1
|
UTSW |
16 |
31,615,736 (GRCm39) |
frame shift |
probably null |
|
|
R7963:Dlg1
|
UTSW |
16 |
31,609,119 (GRCm39) |
missense |
probably null |
0.92 |
|
R7985:Dlg1
|
UTSW |
16 |
31,606,923 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Dlg1
|
UTSW |
16 |
31,656,885 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8111:Dlg1
|
UTSW |
16 |
31,661,620 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8751:Dlg1
|
UTSW |
16 |
31,600,648 (GRCm39) |
missense |
probably benign |
|
|
R9052:Dlg1
|
UTSW |
16 |
31,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Dlg1
|
UTSW |
16 |
31,610,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9725:Dlg1
|
UTSW |
16 |
31,665,683 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9741:Dlg1
|
UTSW |
16 |
31,676,735 (GRCm39) |
nonsense |
probably null |
|
|
X0021:Dlg1
|
UTSW |
16 |
31,484,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation