Incidental Mutation 'IGL02897:Dlg1'
ID |
363457 |
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 # |
IGL02897
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 31590674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110859
(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 null
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 null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000155958
|
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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,467,308 (GRCm39) |
E108D |
probably benign |
Het |
Abca7 |
T |
C |
10: 79,837,426 (GRCm39) |
F437L |
probably damaging |
Het |
Abi2 |
T |
C |
1: 60,487,353 (GRCm39) |
V134A |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 35,990,470 (GRCm39) |
I75T |
probably damaging |
Het |
Aldh1a3 |
A |
G |
7: 66,077,075 (GRCm39) |
V29A |
probably benign |
Het |
Bptf |
T |
C |
11: 106,937,947 (GRCm39) |
K2715E |
probably damaging |
Het |
Cd163 |
A |
T |
6: 124,302,486 (GRCm39) |
S1017C |
probably damaging |
Het |
Cdc14b |
T |
C |
13: 64,395,067 (GRCm39) |
I76V |
probably benign |
Het |
Cers6 |
T |
A |
2: 68,764,877 (GRCm39) |
C63* |
probably null |
Het |
Chd9 |
T |
C |
8: 91,660,496 (GRCm39) |
|
probably benign |
Het |
Col19a1 |
T |
C |
1: 24,573,179 (GRCm39) |
N198D |
unknown |
Het |
Cse1l |
T |
C |
2: 166,761,628 (GRCm39) |
C61R |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,323,123 (GRCm39) |
T2815A |
possibly damaging |
Het |
Cyp19a1 |
G |
T |
9: 54,074,195 (GRCm39) |
T453K |
possibly damaging |
Het |
Dpp7 |
T |
C |
2: 25,243,684 (GRCm39) |
Y339C |
probably damaging |
Het |
Dtl |
T |
C |
1: 191,273,656 (GRCm39) |
|
probably benign |
Het |
Gm5591 |
T |
C |
7: 38,219,466 (GRCm39) |
E469G |
probably damaging |
Het |
Ing3 |
T |
A |
6: 21,969,325 (GRCm39) |
V202E |
probably benign |
Het |
Inpp5j |
A |
G |
11: 3,450,619 (GRCm39) |
L578P |
probably damaging |
Het |
Irak4 |
A |
G |
15: 94,451,872 (GRCm39) |
N155S |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,045 (GRCm39) |
S413T |
probably damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,807,692 (GRCm39) |
Y490F |
probably damaging |
Het |
Med17 |
T |
G |
9: 15,178,830 (GRCm39) |
D447A |
probably damaging |
Het |
Med26 |
T |
C |
8: 73,250,365 (GRCm39) |
T245A |
probably benign |
Het |
Nlrc3 |
A |
T |
16: 3,781,938 (GRCm39) |
S490R |
possibly damaging |
Het |
Nme5 |
A |
G |
18: 34,702,956 (GRCm39) |
|
probably benign |
Het |
Or51aa5 |
T |
C |
7: 103,167,337 (GRCm39) |
R85G |
probably benign |
Het |
Rnf10 |
G |
T |
5: 115,386,700 (GRCm39) |
Q530K |
probably benign |
Het |
Robo3 |
A |
T |
9: 37,338,798 (GRCm39) |
Y281* |
probably null |
Het |
Sclt1 |
T |
C |
3: 41,629,822 (GRCm39) |
I330V |
probably benign |
Het |
Smim14 |
A |
T |
5: 65,607,739 (GRCm39) |
|
probably benign |
Het |
Trank1 |
T |
G |
9: 111,196,585 (GRCm39) |
H1536Q |
probably damaging |
Het |
Tspan18 |
A |
G |
2: 93,050,518 (GRCm39) |
L35P |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,199,819 (GRCm39) |
V4568M |
probably damaging |
Het |
Vmn1r63 |
A |
G |
7: 5,805,744 (GRCm39) |
V296A |
possibly damaging |
Het |
|
Other mutations in Dlg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01604:Dlg1
|
APN |
16 |
31,675,256 (GRCm39) |
splice site |
probably benign |
|
IGL02277:Dlg1
|
APN |
16 |
31,609,082 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |